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Once Upon A Gene

Once Upon A Gene

True stories of raising rare kiddos

All Episodes

A Rare Mama Bear – Being a Single Parent and Adopting a Rare Disease Child with Epidermolysis Bullosa

ONCE UPON A GENE - EPISODE 141 A Rare Mama Bear - Being a Single Parent and Adopting a Rare Disease Child with Epidermolysis Bullosa Laura Dellicker is a hardworking mom who adopted a little boy named Salim four years ago. Salim has a rare disease called Epidermolysis Bullosa (EB). Laura shares her story of rare disease adoption and what inspired her decision. EPISODE HIGHLIGHTS Can you tell us about Salim? My son Salim is 7 years old and he has two unrelated genetic conditions. I adopted Salim from India four years ago and I was aware of his primary diagnosis of Epidermolysis Bullosa, which means his skin doesn't adhere to his body.  What was your motivation to adopt Salim despite his rare disease? I knew I wanted to adopt a child with EB after being involved in the ED world for 10 years prior after my friend's son was born with EB. Moreso, I knew Salim was my son and he just happened to be born on the other side of the world and I just did what I had to do to bring him home.  Where have you found support and community? There is a wonderful adoptive community and I have a lot of friends who have adopted kids from India. We've managed to even stay in touch with some of Salim's friends from India. I do sometimes feel a little out of place because there's no one in the adoptive community with either of Salim's genetic conditions, and I've not found another parent who has adopted as a single parent in the rare disease community.  What wisdom do you have for others considering adopting a child with medical complexities? Kids can look terrifying on paper, but they're so worth it. They mostly need love and family. It's worth it in the joy they have in experiencing the world. This isn't an easy road, but it's worth it and will force you to re-evaluate things and not take things for granted. LINKS & RESOURCES MENTIONED Effisode 050 - Global Genes RARE Disease Patient Advocacy Summit https://effieparks.com/podcast/effisode-050-global-genes-rare-disease-patient-advocacy-summit Global Genes Patient Advocacy Summit https://globalgenes.org/event/rare-patient-advocacy-summit/ @teamsupersalim on Instagram https://www.instagram.com/teamsupersalim/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ Once Upon a Gene TV https://www.thedisordercollection.com/
June 30, 2022
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Effisode – Global Genes RARE Disease Patient Advocacy Summit

Intro music by Scott Holmes
June 28, 2022
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A Rare Collection – Remember Who You Are

ONCE UPON A GENE - EPISODE 139 A Rare Collection - Remember Who You Are There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Madeleine Oudin When her daughter Margo was born, Madeleine couldn't wait to take her on adventures across the world. As Margo's due date approached, Madeleine had already applied for her passport and received it by the time she was only two months old. Her first trip to France was booked when she was three months old. Just two days before the trip, Margo had her first seizures and she was diagnosed with epilepsy. When Margo's genetic testing results were processed, she was diagnosed with two mutations in the SCN8A gene, one of a number of genes that can cause epilepsy. Despite Margo's medical complexities, extra planning and equipment, Madeleine has made her dreams of enjoying the magic of adventures with her family come true.  Alyssa Poskarbiewicz As a new mom to a son, Alyssa embraced her new title of mom. When she became a mom to her daughter, born six weeks early, her experience was much different. At just a couple days old, Alyssa learned that her daughter had multiple medical complexities. She had her first surgery at only five days old and was diagnosed with CHARGE syndrome.  Navigating hospital life, forced to face painful and gut-wrenching moments, motherhood didn't look like Alyssa imagined.The expectation of what motherhood would look like wasn't reflected in being a mom to her daughter-  it was terrifying. Shifting roles from mom to her son and mom to her daughter is complicated, messy, confusing and exhausting, but it's changed Alyssa. Her son made her a mom, but her daughter makes her a better mom.  Kaitlin Walden We're not just rare disease parents. We're still individuals who long for things, who need to feel fulfilled and nurtured. As a parent of a medically complex child, Kaitlin found herself losing touch with who she was, and instead, found herself navigating a world of advocacy and living the life of an active duty military spouse. The journey with rare kids is hard work and nothing detracts from the sacrifices that have to be made, but we're capable of being someone else too. Don't lose sight of your seed in the garden, water it, nurture it, and let it blossom. Erin Monast Early in her rare disease parenting journey, Erin recalls the guilt of doing anything besides parenting. After redefining the meaning of self care, Erin rediscovered the voice inside-  the one saying "I'm still here". Self care is doing anything that makes you feel most like yourself. Erin now puts herself at the top of the list so she can be better at all that she does. Listen to the voice inside and let it guide you back to the truest version of you. CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
June 16, 2022
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Effisode – Find Your Fairy Godmother

Intro music by Scott Holmes
June 14, 2022
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Advancing Therapies for Rare Liver Diseases and Alagille Syndrome with FDA Approved LIVMARLI with Chris Peetz – CEO of Mirum Pharmaceuticals

ONCE UPON A GENE - EPISODE 137 Advancing Therapies for Rare Liver Diseases and Alagille Syndrome with FDA Approved LIVMARLI with Chris Peetz - CEO of Mirum Pharmaceuticals Chris Peetz is the CEO of Mirum Pharmaceuticals, a pharmaceutical company focused on rare liver diseases. They work closely with patients and advocacy groups and have genuine connections which reinforces their sense of urgency to create treatments for liver-related diseases and help to make lives better.  EPISODE HIGHLIGHTS How was Mirum founded? Our current programs include two different medicines. LIVMARLI (maralixibat) is for the treatment of cholestatic pruritus in patients with Alagille syndrome (ALGS) and another is currently in development for other liver conditions. These programs were being developed by a larger company who decided not to work further on the program. Our co-founder had a relationship with families involved with the clinical studies of maralixibat and, upon seeing how good the patients were doing, decided to start the company and get the program back on course.  What does LIVMARLI do and what symptoms does it treat for Alagille patients? LIVMARLI is an oral liquid medicine that blocks the absorption of bile acids in the GI tract. In clinical studies, we've seen the itch that patients experience improves.  How do you decide what rare diseases to focus on and what's in the Mirum pipeline? We're currently focused on broadening access to LIVMARLI for ALGS patients and taking what we've learned and applying it to other liver diseases that have similar issues with bile acids.  How can rare disease advocacy groups help to push to get treatments approved? The impact patient groups have in working through the regulatory process is massive. They play a big role in providing a voice and awareness to help educate regulators. Patient groups do a lot to educate regulators, but also researchers so they can better understand the complex aspects of a rare disease. LINKS & RESOURCES MENTIONED Once Upon a Gene TV https://www.thedisordercollection.com/ ONCE UPON A GENE - EPISODE 036 - Anna Laurent on Alagille Syndrome and Her Road to Advocacy https://effieparks.com/podcast/episode-36-anna-laurent-alagille-syndrome Mirum Pharmaceuticals https://mirumpharma.com/ Mirum Access Plus https://www.livmarli.com/ The Alagille Syndrome Alliance https://alagille.org/ ClinicalTrials https://clinicaltrials.gov/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
June 2, 2022
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Effisode – Guilt – Ain't Nobody Got Time for That

Intro music by Scott Holmes
May 31, 2022
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The Value of Intensive Therapy for Kids with Disabilities with Jessie Cline and Erin Garrison of Climb Intensive Pediatric Therapy

ONCE UPON A GENE - EPISODE 136 The Value of Intensive Therapy for Kids with Disabilities with Jessie Cline and Erin Garrison of Climb Intensive Pediatric Therapy Jessie Cline is the Founder of Climb Intensive Pediatric Therapy and Erin Garrison is a Physical Therapist. Sometimes when you need something done (or always in the world of rare disease) you have to do it yourself. Together, Jessie and Erin have joined forces to offer physical therapy and dynamic movement intervention (DMI) services to children to help them reach therapeutic goals quicker than through typical therapeutic interventions. Climb Intensive Pediatric Therapy is the first and only pediatric therapy clinic in Tennessee to offer DMI therapy services. EPISODE HIGHLIGHTS What inspired you to take Crew's early intervention therapy to an intensive level of therapy? The early intervention model is to train, educate and equip parents.Crew was responsive to the therapy he was receiving and needed the intensive therapy to jump start and boost his therapy progress so we could further build on that. What is the science behind intensive therapy? Intensive therapy is two to three hours of therapy everyday, five days a week, for several weeks at a time. When you work through therapy at that intense level, while it's hard, you see more drastic results sooner. The brain is challenged by repetition and stimulated to open up new neuro pathways. What inspired you to open Climb Intensive Pediatric Therapy? When I was with Crew at LEAP Pediatric Physical Therapy, there was a sense of community and it was a safe space to allow kids to interact. When I returned to Tennessee, Erin and I began collaborating on how we could create that same community here with the best experience and care for kids and their parents. What services does Climb Intensive Pediatric Therapy offer? We currently offer DMI therapy services and physical therapy. We're hoping to also add speech therapy, feeding therapy and occupational therapy services soon. CONNECT WITH CLIMB Website https://www.climbintensive.com/ Facebook https://www.facebook.com/Climb-Intensive-Pediatric-Therapy-101004829103700 Instagram https://www.instagram.com/climb_intensive_peds_therapy/ LINKS & RESOURCES MENTIONED Rare and Relatable on Discord https://discord.com/invite/7UFUPAFs8K LEAP Pediatric Physical Therapy https://www.leappedtherapy.com/ NAPA Center https://napacenter.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
May 26, 2022
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A Rare Collection – Up At Night

ONCE UPON A GENE - EPISODE 135 A Rare Collection - Up at Night There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Mike Gralia, Dad to Tony and Founder of the Syngap Research Fund Mike recalls the nights insomnia kept him awake, looking at Tony as he rested, and wondering what his life would hold. In the darkness of night, his fears had the freedom to emerge. Tony wouldn't sleep without hours of walking the hall, singing and rocking. Then he'd wake up in the middle of the night crying. Mike and his wife had demanding jobs and the lack of sleep took its toll. When he was three years old, Tony began having seizures and he was diagnosed within a year with SynGAP1, which causes major sleep disturbances. Each day as the sun sets, Mike knows he's going to watch the rerun of a series he knows all too well.  Jennifer Sills, Mom to Jules and Founder of CSNK2A1 Foundation Jules, who has Okur-Chung Neurodevelopmental Syndrome (OCNDS), suffers from a severely disrupted sleep pattern. Jennifer shares of her loneliest nights, staring at the computer, searching for answers for Jules and an explanation for her symptoms. After Jules was diagnosed, the late night internet searches continued and revealed there were no OCNDS resources. Now, the nights aren't as lonely, as Jennifer has discovered over 190 families affected by OCNDS worldwide. She finds comfort in her community and knows she's not the only parent suffering from crushing fatigue. She finds comfort in reflecting on all that Jules has taught her about having purpose and perspective. Charlene Son Rigby, Mom to Juno and Founder of SDXBP1 Foundation As a night owl in college, Charlene spent countless hours hanging out with friends. After college, being a night owl leant itself well to life in the startup world. She prided herself on only sleeping 5 to 6 hours a night with so much to do. After having kids, nights became quiet and peaceful, a time to focus on projects and creative work. When her daughter Juno was diagnosed with SDXBP1 disorder, her nights turned into hours of worry and researching medical papers. Nights were driven by urgency to help Juno and driven by fear for her future. But nights were also driven by optimism and a belief that science could and would help.  Sunita Malepati, CACNA1A Foundation Sunita was told when she had her first child, sleep when the baby sleeps, but she was never good at taking that advice. Sunita pulls a second shift, staying up late, trying to figure out how to cure her daughter's rare disease, a CACNA1A-related disorder. After receiving a diagnosis, Sunita turned her grief and despair into hope and action. The CACNA1A Foundation became her second shift. As a rare disease patient advocacy organization, the foundation is focused on finding treatments and cures for the CACNA1A community by building a collaborative network of patients, families, clinicians and scientists.  CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
May 19, 2022
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Effisode – RARE Entrepreneur Bootcamp Warriors

Intro music by Scott Holmes
May 17, 2022
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The Critical Role of Newborn Screening – Rare Mom Alison Breitbarth and Infantile Pompe Disease

ONCE UPON A GENE - EPISODE 134 The Critical Role of Newborn Screening - Rare Mom Alison Breitbarth and Infantile Pompe Disease Alison Breitbarth's son was the first baby in the state of Indiana to be screened for Pompe Disease and receive a positive result. She joins me to talk about the importance of newborn screening. EPISODE HIGHLIGHTS Where does your diagnosis journey begin? Ten days after my son Grant was born, I received a call about results from his newborn screening that indicated he was flagged for Pompe Disease and they were doing further testing. We met with the genetic counselor and learned Grant had the infantile onset form of Pompe Disease, which is the most severe form. Because he was diagnosed through newborn screening, he was able to receive his first infusion at three weeks old and never had a symptom of the disease before treatment. Today, he's doing really well. What is the current treatment for Pompe Disease? An infusion takes about 5 hours and Grant receives them once a week. He will receive his 55th infusion this week and will have them for the rest of his life, or until another treatment becomes available.  What questions do you get from your older son and how do you address them? We've always been honest with Connor, but not gone into much detail. He knows Grant needs medicine every week to keep him healthy. He hasn't asked a lot of questions, but he's starting to understand that everyone has different needs. For example, we've talked about how Connor has Hemophilia, so we have compared how he bruises easily and Grant doesn't.  What is it like integrating with the Pompe Disease community with a child who was diagnosed through newborn screening with immediate treatment options? There are other kids who were diagnosed through newborn screening, but had symptoms right away. The Pompe Disease community is amazing and I've connected with amazing parents who have given me the hope I've needed in the past year.  What are your plans for advocacy? We're in the beginning stages of starting a foundation to raise awareness, help with fundraising efforts for Pompe research, and help families who need assistance getting to see a specialist. International Pompe Day is April 15th and we hope to share more by then. LINKS & RESOURCES MENTIONED Seattle Rare Disease Fair www.rarediseasefair.com ONCE UPON A GENE - Episode 119 - One of the Youngest Children to be Given Treatment for Spinal Muscular Atrophy I with Kathryn Alexander https://effieparks.com/podcast/episode-119-kathryn-alexander CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
May 12, 2022
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The Unique Expertise of a Genetic Counselor – Helping Rare Disease Individuals and Families Navigate Through Complex Emotions and Circumstances Like Guilt, Grief, and Shame with Mary-Francis Garber

ONCE UPON A GENE - EPISODE 133 The Unique Expertise of a Genetic Counselor - Helping Rare Disease Individuals and Families Navigate Through Complex Emotions and Circumstances Like Guilt, Grief, and Shame with Mary-Francis Garber Mary-Francis Garber is a Genetic Counselor who has a private practice where she offers support to patients and families affected by a rare disease diagnosis. We discuss emotional responses to grief, shame and guilt. EPISODE HIGHLIGHTS Where does your career in genetic counseling begin? I was fortunate to get into the program at Sarah Lawrence College, where the field of genetic counseling originated. I wanted to be a medical provider with a focus on helping people understand genetics. I also enjoyed the counseling side and focused my early career in high-risk obstetrics. I opened my personal practice to provide ongoing supportive care to patients, parents and families who are experiencing something related to genetics, during pregnancy, in pediatric settings or as adults.  How do you help a parent who feels an overwhelming guilt after their child is diagnosed? I sit with them, I'm present and I listen. Guilt is self-imposed and it's easy to get stuck in guilt and the early stages of depression after a diagnosis. Sometimes it takes time, but my hope is that someone can eventually see that the guilt they feel isn't necessarily the appropriate emotion. I remind patients to be good to themselves and to journal about why they feel guilt so they can take the feelings from their heart and head, put it on the paper and expel or release it. How is feeling ashamed different from guilt? Parents sometimes feel ashamed as a result of thoughts they've had about their child. We're all human and we have faults. When we're tired or overwhelmed, we have negative thoughts. Feeling ashamed, just like feeling guilty, isn't justified when you're trying to do your best.  What advice can you share for supporting someone who is going through a genetic diagnosis? My patients often don't want to share their news because they don't want to be pitied and they don't want to get questioned, especially when they can't answer a lot of questions themselves. Just be there, listen, reflect on what they say, validate their feelings and try not to bombard them with questions. LINKS & RESOURCES MENTIONED Listening Reflecting Healing listeningreflectinghealing.com Varient App  https://www.varientapp.com/ Once Upon a Gene TV https://www.thedisordercollection.com/ ONCE UPON A GENE - EPISODE 114 - The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman https://effieparks.com/podcast/episode-114-noah-siedman National Society of Genetic Counselors nsgc.org TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene
May 5, 2022
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Effisode – I Don't Like That

Intro music by Scott Holmes
May 3, 2022
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Rare Disease Caregiving Post Childhood with Rare Mom and Primary Ciliary Dyskinesia Advocate Karen McEwen

ONCE UPON A GENE - EPISODE 132 Rare Disease Caregiving Post Childhood with Rare Mom and Advocate Karen McEwen Karen McEwen has an 18 year old daughter with laryngeal cleft primary ciliary dyskinesia (PCD). Her and her daughter have been active advocates through speaking, writing and support groups. They're also fundraising for the PCD Foundation and working to get a PCD clinic at major hospitals in every state.  EPISODE HIGHLIGHTS Tell us about your family and your daughter Elana. My daughter Elana is 18 years old and a freshman in college. She has a rare disease called primary ciliary dyskinesia (PCD). I have another daughter, Madison, who is 11 years old and she's healthy. When Elana was born, she coughed before she cried. The doctors said she had fluid in her lungs from birth and that it wasn't anything to worry about. Two days later, she went for a check-up and she was sent for an x-ray. Since then, she's suffered from repeated pneumonia, bronchitis, ear infections, sinus infections and other upper respiratory problems. Elana has had over 60 surgeries, has been hospitalized over 100 times and she's had to get hearing aids as a result of the disease. She's been so resilient through everything.  Is it difficult for kids to get diagnosed with PCD? The PCD Foundation has a goal of establishing a PCD clinic in every state. For a PCD diagnosis, the process of collecting samples is very precise and requires special equipment. Having a clinic in each state would provide easier access to diagnostic procedures. Elana and I have spoken at several hospital family day events, medical schools and at rare disease day hoping to spread awareness about PCD and ease the diagnosis journey for affected families. How have things changed with Elana being grown and away at college? I feel like I've been fired. Now that she's 18, she wants to take the lead on her own appointments. After taking her to hundreds of doctors appointments and being through all the hospitalizations, picking her up from school- it was weird to watch her pull out of the driveway and go to an appointment without me. What superpowers do you feel you have? I can learn a lot of new things and do things I never thought possible. Being on this journey with Elana, I've had to learn medical terms, learn how to care for her, research and figure out how to conduct fundraisers, speak at medical conferences and our state capitol. LINKS & RESOURCES MENTIONED PCD Foundation https://pcdfoundation.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
April 28, 2022
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Kelley Coleman – Author of You will Feel Better – A Guidebook for Rare Disease Parents

ONCE UPON A GENE - EPISODE 131 Kelley Coleman - Author of You will Feel Better - A Guidebook for Rare Disease Parents Kelley Coleman is a mom and writer who is creating a series of books and other helpful resources for parents who are raising kids with disabilities. Be sure to tune in if you've been thinking about adding a service dog to your family because Kelley shares her experience of growing their family by one service dog named Heddie. EPISODE HIGHLIGHTS Can you tell us about your upcoming book release? The book is called You Will Feel Better which is an honest, real-life guide to doing life with a child with a disability. It's an actionable guide, a handbook that includes step-by-step questions and templates. My goal is to have my book in every doctor's office so when a family receives a diagnosis, there's a starting point for the parents.  What have you discovered you shouldn't waste your energy on? Google. If you are going to research things online on your own, be very focused, determine your best resources and know when to stop. I'm a compulsive list maker and it's helpful to make lists of what I can control and what I can't control. If something isn't controllable, let go of it so you can zero in on what you can control and what you want to be doing.  When did you become connected with the Undiagnosed Diseases Network and what has your experience been? We first connected with them through our geneticist. It's been a great opportunity for us to get genetic testing and connect with a community without a diagnosis. There's a possibility that dots can be connected by way of other families or doctors with such a far-reaching network. I believe if we are to get a diagnosis, the UDN is our path to get it. CONNECT WITH KELLEY Website https://www.kelleycoleman.com/ Facebook https://www.facebook.com/kelley.coleman.56 Instagram https://www.instagram.com/hellokelleycoleman/ LINKS & RESOURCES MENTIONED Canine Companions https://canine.org/ Varient App  https://www.varientapp.com/ Undiagnosed Diseases Network https://undiagnosed.hms.harvard.edu/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
April 21, 2022
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Effisode – Gimme a Break, Spring Break

Intro music by Scott Holmes
April 19, 2022
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A Rare Collection – Penny For Your Thoughts

ONCE UPON A GENE - EPISODE 130 A Rare Collection - Penny for your Thoughts There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Drie Barr, Physical Therapist A physical therapist is a movement therapist, an expert in body mechanics, movement pattern and providing diagnoses of the musculoskeletal system. While not an expert in language, Drie has learned through her experiences that communication is more than words strung together into sentences. Communication can present in the form of a variety of sounds, vocalizations, gestures, sign language, facial expressions, eye gaze, body language, laughter, tears and many other ways. In addition to her job diagnosing musculoskeletal impairments and teaching functional movement patterns, modern language skills are deeply intertwined and connected in the work. Movement is language and everyone has something to say. It's up to all of us to listen beyond words, to listen with the eyes and the heart.  Miaya Allen, Speech and Language Pathologist  Miaya has been a Speech and Language Pathologist for 16 years. Working with children with a variety of abilities and challenges has taught her about the power of resiliency and human spirit. Working with their families and caregivers has taught her the power of trust, patience and extending yourself grace. She shares her best advice with her patients' parents— Being a parent is the best and hardest job you will ever have, so enjoy the wins, try not to get stuck on the losses, and trust the process, be patient and extend yourself grace.  Sarah Putt, Podcaster and Founder of OT 4 Lyfe Sarah works as an Occupational Therapist in home-based early intervention. Going into a client's home makes for a unique and special experience, becoming familiar with where they live, but also meeting the people closest to them. Being aware of their daily routines makes supporting families easier when they need it. To all the parents and families out there who work with therapists in their homes, know this is more than a job to us. We do the work we do because it's who we are and it's a calling. Your child and your family touch our lives and forever change us.  Alissa Hughes, Rare Mom, Speech and Language Pathologist and Founder of Purposeful Play Everyday Being an SLP, that comes so naturally. Here is what I know. I love to read. I love to write. I love to rhyme and play and sing. Words, they are my everything. I love watching your kids grow and teaching you everything I know so you can teach them too. I love when the light bulb flickers and I can see they understand. I won't stop until they do. And if they still can't quite yet, I'll try something new. Again and again until the breakthrough. Because we all need to communicate and I'll do whatever it takes to share that gift with you. Gestures, sounds, pictures or signs. Or smiles in your eyes. You show me what works best and I will do the rest. It's just so black and white to me as your SLP. LINKS & RESOURCES MENTIONED OT 4 Lyfe https://ot4lyfe.com/ Purposeful Play Everyday https://www.alissahughesslpllc.com/ Drie Barr - Napa Center https://napacenter.org/our-team/adrienne-barr/ Miaya Allen  https://www.linkedin.com/in/miaya-allen-824ab789
April 14, 2022
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Self Care for Your Healthcare with Ehlers Danlos Patient and Miss Wheelchair Washington – Sarah Tompkins

ONCE UPON A GENE - EPISODE 129 Self Care for Your Healthcare with Ehlers Danlos Patient and Miss Wheelchair Washington - Sarah Tompkins Miss Wheelchair Washington, Sarah Tompkins has Ehlers Danlos Syndrome (EDS), she does extensive rare disease advocacy work, and centers her messaging around her slogan- practice self care for your healthcare.  EPISODE HIGHLIGHTS Tell us about your EDS journey and advocacy work. I'm an Ehlers Danlos Syndrome and chronic pain patient and rare disease, disability rights and invisible disabilities advocate. I've been fortunate to be able to advocate through the Rare Disease Legislative Advocates, Rare Disease Week and Rare Across America programs to grow my patient advocacy and gain confidence, validation and healing from hearing others' experiences. I've learned that being a patient advocate is part of my self care because while I'm advocating for others, I'm also advocating for myself, sharing my story and feeling heard. I encourage everyone to be their own best advocate in any way that's meaningful to them. Was there a time you didn't have the confidence to advocate for yourself? A few days after receiving a genetic diagnosis, I went to a support group and met a friend who taught me how to be my own best advocate and she really lit the torch for me. My friend later passed suddenly and unexpectedly as a result in large part to a lack of awareness and advocacy for EDS. That really lit a fire in me to continue advocating with the passion that was passed down to me. After a doctor disregarded my symptoms and concerns based on my appearance, it made me want to advocate more about EDS. Tell us about Miss Wheelchair. The Miss Wheelchair USA promotes glamour, self-confidence and community services celebrating accomplishments of women with disabilities. The Dane Foundation organizes the Miss Wheelchair pageant. Their mission is to provide for the unique needs of individuals with physical and developmental disabilities.  How do you pursue advocacy despite what you're going through? A recent surgery resulted in a more difficult and intense recovery than I expected. In needing more care giving than usual and feeling out of control of my own health, I realized the toll it took on my mental health. Through my Miss Wheelchair Washington message of practicing self care for your healthcare, I meant that to mean that as patients we may not realize we can be our own best caregivers and advocates. The same is true for caregivers who give so much of themselves to others and how hard it is to put their own self care first. Self care is important for everyone regardless of health, diagnosis and abilities. Everyone has the power to improve their self care by being their own best care givers and advocates by practicing kindness and compassion we'd offer others in our position, but sometimes struggle to give ourselves. CONNECT WITH SARAH Instagram @sarestthezebra https://www.instagram.com/sarestthezebra/ Email [email protected] [email protected] LINKS & RESOURCES MENTIONED 2022 CNP Virtual Family Symposium Registration  https://secured.societyhq.com/bch/2022/  The Dane Foundation http://www.thedanefoundation.org/ Miss Wheelchair USA https://www.mswheelchairusa.org/ Miss Wheelchair USA on Instagram https://www.instagram.com/mswheelchairusa/ Sponsor Sarah’s Pageant (Sponsor Your Favorite National Finalist > Sarah Tompkins) http://thedanefoundation.org/eventsprograms/sponsormwusafinalists.html
April 7, 2022
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Effisode – A Perfect Day for a Walk

Intro music by Scott Holmes
April 5, 2022
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Sisters’ Hope Foundation President and Founder Heidi Edwards on Recognizing ALSP Symptoms and the Importance of Genetic Testing

ONCE UPON A GENE - EPISODE 128 Sisters’ Hope Foundation President and Founder Heidi Edwards on Recognizing ALSP Symptoms and the Importance of Genetic Testing Heidi Edwards, President and Founder of Sisters’ Hope Foundation, has a family history of adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (ALSP). She's on a mission through the work of Sisters’ Hope Foundation to advocate and spread awareness for ALSP patients.  EPISODE HIGHLIGHTS Where did your ALSP journey begin? Twenty years ago, my aunt was the first to become sick with what we know now was ALSP. We've since had five family members pass away from the disease. I've lost two sisters and started Sisters’ Hope Foundation to honor my sisters, my mom and her siblings, to raise awareness and educate people about ALSP and to connect people affected by the disease. My family now has two additional people who have been diagnosed with the CS1FR gene mutation. What is ALSP and what are the symptoms? ALSP is a rare, progressive neurological disease that causes changes to specific areas of the brain. Mutations occur in the CS1FR gene. It's an autosomal dominant genetic, which means a child of a parent with the gene has a 50% chance of inheriting the gene and contracting the illness. ALSP causes dementia and movement issues, and early onset symptoms include personality changes like depression, memory issues or seizures. As ALSP progresses, it causes movement issues, slow movement, difficulty walking, tremors or muscle stiffness. In early stages, it affects the left side of the body and the entire body with disease progression.  Can you tell us about ALSP Awareness Month? The month of March is ALSP Awareness Month, which is also my and my twin sister Holly's birthday month. Holly designated the entire month of March as our birthday month and we spent the time celebrating and having fun. March also signifies new beginnings with the start of Spring and joy of the longer days after the shorter, colder months. For all these reasons, I thought March was the perfect month for spreading ALSP awareness. This month we kicked off a campaign called Bridging the Gap in ALSP Awareness. We had four bridges lit up pink and purple in Massachusetts and we're contacting everyone in the neurology field to educate them and raise awareness of this rare disease that doesn't have a cure. LINKS & RESOURCES MENTIONED 2022 CNP Virtual Family Symposium Registration  https://secured.societyhq.com/bch/2022/  Symposium Questions / Inquiries [email protected]  Sisters’ Hope Foundation https://sistershopefoundation.com/ ALSP Awareness Month https://sistershopefoundation.com/events/alsp-awareness-month/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
March 31, 2022
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Building a Different Kind of Motherhood Experience Than We Had Anticipated with CDKL5 Deficiency Disorder Mom and Founder of Art For Hope Love Cure, Marissa Bishop

ONCE UPON A GENE - EPISODE 127 Building a Different Kind of Motherhood Experience Than We Had Anticipated with CDKL5 Deficiency Disorder Mom and Founder of Art For Hope Love Cure, Marissa Bishop Marissa Bishop's son Gregory was born with CDKL5 Deficiency Disorder (CDD), a rare neurological disease that causes a variety of symptoms including seizures and cortical visual impairment. Marissa is a board member for the International Foundation for CDKL5 Research (IFCR) and started Art For Hope|Love|Cure to raise money for CDKL5 Deficiency Disorder research. EPISODE HIGHLIGHTS Can you tell us about Gregory? Gregory is almost 6 years old and my only child. He's handsome, laid back and a great snuggler! He lives with CDKL5 Deficiency Disorder (CDD), which is a developmental and epileptic encephalopathy. His brain is missing a protein essential for healthy brain function. Being his mom has challenged me in ways I never could have imagined, but he's a wonderful little boy. How did you connect with the rare disease community and get involved in advocacy? I asked our early intervention provider to help me connect with other moms who had kids that weren't typically developing. CDKL5 has a support group for parents on Facebook and I've been able to find friendships there with other moms who have sons that are Gregory's age.  Can you share about Art For Hope|Love|Cure? Gregory doesn't have a lot of functional finger skills or function vision, so doing toddler crafts wasn't practical, but what worked best to be creative was painting on canvas. I began using Gregory's creations to raise awareness and fundraise for CDKL5. I started Art For Hope|Love|Cure on social media, took the artwork to craft shows which helped me talk to people about CDKL5. The creative endeavor has been fun and has served multiple purposes- giving Gregory and I something special we do together, raise awareness and raise funds. I'm always in search of ways to embrace Gregory's rare disease and bring richness to our lives and this has brought a lot of joy to me. CONNECT WITH MARISSA Art For Hope|Love|Cure Website https://artforhopelovecure.wixsite.com/cdkl5 Instagram @artforhopelovecure https://www.instagram.com/artforhopelovecure/?hl=en Facebook @artforhopelovecure https://www.facebook.com/artforhopelovecure LINKS & RESOURCES MENTIONED CDKL5 Parents Support Group https://www.facebook.com/groups/CDKL5/ International Foundation for CDKL5 Research (IFCR)  https://www.cdkl5.com/ Beyond the Diagnosis https://www.beyondthediagnosis.org/ NORD (National Organization for Rare Disorders) https://rarediseases.org/ ONCE UPON A GENE - EPISODE 056 - Rare Leader Patricia Weltin, CEO, Beyond the Diagnosis https://effieparks.com/podcast/episode-056-patricia-weltin-beyond-the-diagnosis NAC Rare Caregivers Guidebook https://drive.google.com/file/d/1ucr96wjmFGDFYqaKzrlkpDi_SAK4M7lA/view?usp=sharing TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
March 24, 2022
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Effisode – Grocery Store Answers

Intro music by Scott Holmes
March 22, 2022
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A Rare Collection – Unexpected Findings

ONCE UPON A GENE - EPISODE 126 A Rare Collection - Unexpected Findings There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Katheron Intson Katheron started her PhD in basic neuroscience as a learning and memory researcher. She shares her experience of GRIN1 and how when patients became involved, her work transformed and unexpected findings resulted in advances for GRIN1 patients. Her experience helped develop a skillset which helped in the development of an app that helps users discover what treatments are helpful according to other user's data. Variant's goal is to connect families with better medication and to be a liaison between pharma and rare disease patients by proving the benefit from the development of new medicines and cures.  Caitlin Nichols Caitlin studied cancer biology in graduate school and investigated a potential strategy to treat cancer for her thesis. One of the challenges of chemotherapy is that it kills cancer cells, but also damages other tissue which leads to patient side effects. The ideal cancer treatment would target tumor cells specifically, leaving the rest of the body unaffected. Caitlin spent weeks preparing in the lab before testing an experiment. Despite ideal, expected data resulting from the experiment, there were some unexpected findings that came from her personal reflections.  Kim Aldinger As a scientist, Kim appreciates unexpected results. As a parent of twins with special needs, unexpected findings have been devastating. Kim's twins were born early at 33 weeks and 3 days. Most premature babies have a lazy eye that can be easily treated. But when Kim's daughter was 8 months old, she underwent a series of tests that revealed her daughter was expected to be blind- an unexpected finding that changed her life. TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
March 17, 2022
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A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure – Katie Lloyd

ONCE UPON A GENE - EPISODE 125 A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure - Katie Lloyd Katie Lloyd is a mama to Kasper, who has a rare genetic disorder called DeSanto-Shinawi syndrome and she's joining me to talk about postpartum depression and mental health. Be sure to check out her blog, A Very Rare Adventure. EPISODE HIGHLIGHTS Can you tell us about Kasper? Kasper is almost three years old and he has DeSanto-Shinawi syndrome. Kasper is most affected by hypotonia, he's non verbal, he has the dysmorphic facial features that are specific to the disease and developmental delays. Kasper had infantile spasms which aren't common for children with his syndrome, which makes him even more rare. When did Kasper begin experiencing infantile spasms? He was 9 months old when they started and we knew something wasn't right despite our pediatrician suggesting otherwise. We were able to record an episode and we sent it to the pediatrician who referred us to a neurologist. Following an EEG, he started anti-seizure medicine and the spasms went away within days. What has the rare disease journey been like for you so far? In the beginning, I became very exhausted due to a lack of sleep and being home all day with an unhappy baby. It was hard as a mom, not being able to solve the problem and knowing something wasn't right. I started feeling sad and crying all the time. Comparing experiences with my friends, I began wondering what I was doing wrong and thinking I wasn't made to be a mother. I can be gentler and more compassionate looking back now, but at the time it was very hard.  What has helped you have a sense of acceptance? Getting the diagnosis helped because before it, I felt so lost. I was stuck thinking it must be me, I must be doing something wrong or I was to blame, so having answers helped me to rationalize that and free myself from blame.  What is your advice for parents who are feeling the symptoms of anxiety or depression and feel ashamed to speak out? Don't hide it, find a friend or a support group to confide in. Talk to your doctor and seek out services. Just don't suffer in silence. CONNECT WITH KATIE Instagram @averyrareadventure https://www.instagram.com/averyrareadventure/?hl=en LINKS & RESOURCES MENTIONED A Very Rare Adventure Website https://averyrareadventure.com/ Rare and Relatable on Discord https://discord.com/invite/7UFUPAFs8K ONCE UPON A GENE - Episode 117 - A Rare Collection - New Beginnings https://effieparks.com/podcast/episode-117-new-beginnings TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
March 10, 2022
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Effisode – Moments

Intro music by Scott Holmes
March 8, 2022
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Adapting and Collaborating to Help Bring a Cure to GSD1B with Sophie's Hope Foundation Founder and Dadvocate Jamas LaFreniere

ONCE UPON A GENE - EPISODE 124 Adapting and Collaborating to Help Bring a Cure to GSD1B with Sophie's Hope Foundation Founder and Dadvocate Jamas LaFreniere Jamas LaFreniere is the rad dad to Sophie, who has an ultra-rare glycogen storage disease called GSD1B. He’s also the founder of Sophie’s Hope Foundation and CureGSD1b.  EPISODE HIGHLIGHTS Tell us about Sophie's diagnosis and the foundation you started. Sophie just turned 4 years old and was diagnosed with GSD1B just before she turned 2 years old. We started Sophie's Hope Foundation a couple months after diagnosis with the intention of leveraging our network to raise money. CureGSD1b is a patient advocacy organization which was started to bring together doctors, patients, researchers and collaborators.  How do you balance fatherhood, marriage and business?   It's hard and there's no way around that. My wife Margot is an incredible teammate and best advocate for Sophie. Margot takes a lot of pressure off me and I try to do the same for her and the balance works despite it being a strain. What has been a difficult experience on your journey to raise money and awareness for GSD1B? Making the pivot to start CureGSD1b came with a realization that I was responsible for driving a research plan, building a GSD network, collecting data and making impactful decisions. I had to acknowledge my strengths and weaknesses and remind myself that I'm doing my best to make progress.  What is your fundraising strategy? I don't enjoy fundraising, but the reason we're doing it is to cure my daughter and thousands of other kids. We do an annual golf tournament, which stabilizes us financially for the year. Having a lynchpin event is important because people will get burned out if you continually ask for money. The golf tournament will likely always be our flagship event and we can add other fundraising events throughout the year. LINKS & RESOURCES MENTIONED Once Upon a Gene TV https://www.thedisordercollection.com/ Courageous Parents Network https://courageousparentsnetwork.org/ Sophie’s Hope Foundation https://sophieshopefoundation.org/ CureGSD1b https://curegsd1b.org/ Support Margot in the 2022 Boston Marathon https://www.givengain.com/cc/sophieshope2022bostonmarathon/ ONCE UPON A GENE - Episode 094 - The 12 Commandments to guide you when you're starting a rare disease patient advocacy group with Nasha Fitter and Mike Graglia https://effieparks.com/podcast/episode-094-mike-and-nasha TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
March 3, 2022
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Figuring Out How to Infuse Meaning in the Days After the Loss of a Child and the Daunting Task of What the Hell to do Now with Liz Morris

ONCE UPON A GENE - EPISODE 123 Figuring Out How to Infuse Meaning in the Days After the Loss of a Child and the Daunting Task of What the Hell to do Now with Liz Morris Liz Morris is a guest blogger on the Courageous Parents Network and a fellow Seattle rare mom who lost her son Colson to mitochondrial disease in 2020.  EPISODE HIGHLIGHTS In your most recent blog, you spoke about obligation and purpose. How has your obligation as Colson's mom and as his full time caregiver changed as a mom now who has a lot of time. I loved being Colson's mom and thrived in the intense clarity of knowing how to care for him, keep him safe and advocate for him. I had other things to do, but it was all secondary to caring for Colson. Now that he's gone, I know how intensely and passionately I can focus on things and how meaningful that can be. Now that Colson is gone, my day can be dull and I'm trying to figure out how to direct the same level of energy and purpose into something useful, particularly for parents in the thick of caregiving.  Have you experienced a fundamental transformation as a rare disease mom and then after losing Colson? When Colson was alive, my world expanded and I learned a lot about non-normative ways of living and I learned of others living in those spaces. I've been trying to hold onto that expansive mindset. Grief will either crumble me, or this part of our story can expand my empathy, resilience and relationships.  Do you still want to associate with other rare parents? I want to stay connected to families in the rare disease community. When I spend time with friends with children like Colson, I feel close to him. I enjoy watching the community blossom and grow and seeing the level of support and care people have for each other. We started palliative care when Colson was 7 months old and I like to stay engaged and continue advocating for palliative care because it's a powerful and transformative resource.  What's the difference between your grief when Colson was alive and your grief after he passed? I had a lot of ambiguous grief when Colson was alive. I did a lot of active anticipatory grieving while he was alive, which helped me in the immediate aftermath of his death. I carried the grief I had before his death into the next phase of living without him. Palliative care really helped me through the decisions we made before he died. We feel that in the final moments when we had to make hard decisions, we were able to do so through an act of love, and our grief is mitigated in that we're not agonizing over our decisions.  LINKS & RESOURCES MENTIONED Rare and Relatable on Discord https://discord.com/invite/7UFUPAFs8K Liz Morris - Courageous Parents Network https://courageousparentsnetwork.org/blog/author/liz-morris TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
February 24, 2022
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Effisode – The Unicorns – Random Acts of Kindness in the Rare Community

Intro music by Scott Holmes
February 22, 2022
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A Rare Collection – This Is Us

ONCE UPON A GENE - EPISODE 122 A Rare Collection - This is Us There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme.  EPISODE HIGHLIGHTS Because of You Heather shares all the ways that she and her family are reminded of the bigger, more deeper meanings of life through, all thanks to her daughter Kate. Their faith has grown as they've learned to trust God more deeply and to let others help. Heather has learned to let go of her lifelong pursuit of perfection and the need to achieve. She's a better mother because she can let go of unrealistic expectations of herself. She's learned to be kinder to herself and how to define success differently. Kate's family is more grateful, more patient, more loving and more accepting of others. They have become part of a community who enriches their lives, supports them, and shows them how to advocate.   Reality Check One moment you're cruising around town with your seasonal cold brew from Starbucks, and the next, you're crying in the frozen food section of the grocery store. Katie shares that she feels this way everyday as a special needs parent to Mary Kate. After witnessing another mother shopping with her children, Katie's reality hit hard. Mary Kate may never be able to grocery shop, walk independently through a store, be able to grab stuff and place it in the cart, or be independent enough to have the experience of shopping for her own food. With support from fellow moms, Katie realized that Mary Kate is going to do what she wants, when she wants. She will continue to hit milestones, and Katie will be there to help every step of the way.  All of Us Brittany shares a story about her family and friends rallying around in support when her son Luca was hospitalized. Through a subsequent diagnosis, Brittany and her family have met therapists, specialists and doctors who serve as an amazing team and their community continues to grow. Their "us" is more than their family, more than their close friends— it includes the medical staff, therapy team and the other rare parents on the journey with them.  Our Village Sophia's village extends beyond her husband and five children. The whole family, the grandparents and the family's church community has rallied around Sophia's son Davis who has CTNNB1. Their family and those close to them are a village dedicated to Davis' success and to finding a cure. They share tears, they share laughs and they're all on this journey together. TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
February 17, 2022
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How the Caregivers Mental Health and Physical Well-Being are Impacted Right Alongside Our Rare Disease Kiddos with Advocate and Co-Founder of Hello Sleuth – Sehreen Noor Ali

ONCE UPON A GENE - EPISODE 121 How the Caregivers Mental Health and Physical Well-Being are Impacted Right Alongside Our Rare Disease Kiddos with Advocate and Co-Founder of Hello Sleuth - Sehreen Noor Ali Sehreen Noor Ali is the Co-Founder of Sleuth, a website that compiles stories and information from rare disease parents. It's a smart technology designed to identify resources, solutions and cures— a growing group of parents working together. Sehreen is talking with me about trauma resulting from medical uncertainty. EPISODE HIGHLIGHTS Can you share the medical trauma you've experienced? My youngest daughter was hospitalized for over two months after surgery and went into inpatient rehabilitation afterwards. Then she was hospitalized again for a second surgery before she could go home. I cultivated tools and resources upon learning my daughter was going to need surgery and they served me well. But after we got home and I started to fray at the edges, I realized I was traumatized by the experience. What most contributed to how you're feeling? I was not prepared. My daughter also lost her swallow function and is now completely g-tube fed, which wasn't supposed to happen. Reconciling that while trying to act normal has contributed to my trauma. What advice do you have for caregivers? The thing I believe in most is that the caregiving you're doing means something really meaningful to other parents on similar journeys. I hope Sleuth is a place people will consider sharing their story because we know how powerful and helpful it can be to share your story.  LINKS & RESOURCES MENTIONED Rare and Relatable on Discord https://discord.com/invite/7UFUPAFs8K Sleuth Website https://hellosleuth.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
February 10, 2022
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Effisode – Bathroom Floor Moments

Intro music by Scott Holmes
February 8, 2022
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What Happens Now – Baby Boy is a Medical Miracle After Being Treated for Spinal Muscular Atrophy Type 1 with Kathryn Alexander

ONCE UPON A GENE - EPISODE 120 What Happens Now - Baby Boy is a Medical Miracle After Being Treated for Spinal Muscular Atrophy Type 1 with Kathryn Alexander Kathryn Alexander joins me for a part two segment to further discuss her unique rare disease experience. Through newborn screening, her son Connor was diagnosed with Spinal Muscular Atrophy (SMA). It's one of the five percent of rare diseases that has a treatment and her son is among the youngest to receive it. She highlights the fear, isolation and guilt she feels as she moves beyond treatment. EPISODE HIGHLIGHTS How did Connor's diagnosis and cure affect you emotionally? While you think you'd be relieved and thrilled to have a treatment so you could go on about your life, that wasn't my experience. He's living pre-symptomatically and he's able to do things that other children with his condition can't do, which is amazing. His therapy could last his whole life, but it also potentially couldn't. There are so many unknowns that it leaves me a nervous wreck and I don't have a sense of relief. I feel scared, confused and extremely isolated because no one else is in the position that I am. I also feel a lot of guilt that Connor received treatment when so many other children haven't. What advice do you have for parents who feel separated from the rare disease community? I like to practice the four A's- acknowledgement, acceptance, action and assessment. I think you have to abandon your definition of acceptance and redefine it for yourself. For me, acceptance is understanding something is true, it happened and it exists. Taking action helps me to feel like I'm making a difference, which helps me grieve, process and feel like I'm part of something even though I don't have a community of people around me who share my experience. This has helped me to make connections and has helped me in general. LINKS & RESOURCES MENTIONED Rare and Relatable on Discord https://discord.com/invite/7UFUPAFs8K ONCE UPON A GENE - Episode 119 - One of the Youngest Children to be Given Treatment for Spinal Muscular Atrophy I with Kathryn Alexander https://effieparks.com/podcast/episode-119-kathryn-alexander ONCE UPON A GENE - Episode 090 - Mental Health and chronic stress with Rare Disease Dad and Psychologist Al Freedman, Ph.D https://effieparks.com/podcast/episode-090-rare-disease-dad-and-psychologist-al-freedman EveryLife Foundation https://everylifefoundation.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
February 3, 2022
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One of the Youngest Children to be Given Treatment for Spinal Muscular Atrophy I with Kathryn Alexander

ONCE UPON A GENE - EPISODE 119 One of the Youngest Children to be Given Treatment for Spinal Muscular Atrophy I with Kathryn Alexander Kathryn Alexander is the mother of three kids and her rare disease story starts when she gave birth to twins and a newborn screening on her son came back positive for Spinal Muscular Atrophy (SMA). It's one of the five percent of rare diseases that has a treatment and her son is the youngest to receive it.  EPISODE HIGHLIGHTS Can you tell us about your family? I am a mother of three little ones. I have a son named Jack who is 4 years old and twins who were born the first day of the pandemic lockdown in 2020. My twin son, Connor, was diagnosed with SMA Type 1 through newborn screening.  Did anyone educate you on opting into newborn screening? I didn't know that newborn screening existed or that my son was getting screened. No one talked to me about the newborn screening for all these rare diseases or the treatments that exist. Getting the screening is important because if you get a diagnosis and begin treatment right away, your child has the best chance for successful intervention. What do you hope to accomplish through sharing your story? I want Connor's story to help other people to understand the importance of doing newborn screening and seeking urgent treatment. There aren't currently uniform guidelines across the country for newborn screening and I don't understand the ins and outs of why, but I'm figuring out how to use Connor's story to contribute to change. I have strong feelings around sharing my experience and it helps me cope.  How did you process the birth of twins, the pandemic, Connor’s diagnosis and beginning treatment all at once? Losing someone close to me when I was younger helped me through my experience with Connor because I knew how to cope under extreme duress and I knew how to push and keep going. I keep my focus on the positive in situations and don't sweat the small stuff. LINKS & RESOURCES MENTIONED Wild: From Lost to Found on the Pacific Crest Trail by Cheryl Strayed https://www.amazon.com/Wild-Found-Pacific-Crest-Oprahs-ebook/dp/B005IQZB14 Tiny Beautiful Things: Advice on Love and Life from Dear Sugar by Cheryl Strayed https://www.amazon.com/Tiny-Beautiful-Things-Advice-Sugar/dp/0307949338 When Bad Things Happen to Good People by Harold Kushner https://www.amazon.com/When-Things-Happen-Good-People/dp/1400034728 When Things Fall Apart: Heart Advice for Difficult Times by Pema Chodron https://www.amazon.com/When-Things-Fall-Apart-Difficult/dp/1611803438 George Mumford Podcasts  https://georgemumford.com/press/ ONCE UPON A GENE - Episode 101 - Finding Beauty and Connection When Raising a Medically Complex Kiddo with Melanie Dimmitt - Author of Special https://effieparks.com/podcast/episode-101-melanie-dimmitt-m9dga ONCE UPON A GENE - EPISODE 059 - Palliative Care & Courageous Parents Network with Founder Blyth Lord https://effieparks.com/podcast/episode-059-blyth-lord Rare and Relatable on Discord https://discord.com/invite/7UFUPAFs8K The Disorder Channel https://www.thedisordercollection.com/ EveryLife Foundation https://everylifefoundation.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
January 27, 2022
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Effisode – Oh Goody – Anxiety is Visiting

Intro music by Scott Holmes
January 25, 2022
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Ambiguous Medical Plans – How to Figure Out a System Even When it Seems Impossible with Parvathy Raman Krishnan

ONCE UPON A GENE - EPISODE 118 Ambiguous Medical Plans - How to Figure Out a System Even When it Seems Impossible with Parvathy Raman Krishnan Parvathy Krishnan joins me to discuss being an administrator for your kids and the uncertainty that stems from not having a care plan in place, like when you have an ultra-rare disease kid like she does. She has endured more than most on her rare parenting journey, yet she perseveres every day with courage to advocate and make a difference. To know her is to love her. EPISODE HIGHLIGHTS Tell me about your rare disease parenting journey. About 8 years ago, my son began experiencing bloody stool and he had his first colonoscopy at 6 years old. He had polyps in his colon, so he continued having colonoscopies to see if he improved. Genetic testing didn't reveal any answers. At 8 years old, he had his first major surgery, a proctocolectomy to remove his large intestine and rectum and he got an ostomy bag. Through additional genetic testing, it was revealed that he had a rare condition called Constitutional Mismatch Repair Deficiency (CMMRD). Because it's such a rare disease, there's no treatment or standard of care. My daughter was born around the time my son was having his first colonoscopy done. When she was 6 months old, we were told she had a genetic condition called Bardet-Biedl syndrome (BBS). Through her lifetime, she was identified to have three additional rare diseases and passed away at 4 years old.   What does it feel like when a doctor says they don't have an answer or don't know what to do? It feels honest. When they did genetic testing, we were told our son was the only patient with CMMRD in North Carolina. Then we went to Boston where we were told he was the only patient in the country. We went to Toronto where they run the largest research study on the condition and were told he was the only patient in the world. We realized it would be really difficult to put the puzzle pieces together with no other patients to fill the gaps. The condition is ultra rare and it's been difficult. Is there hope in not knowing? For us, knowledge is power. We didn't know the affected genes were in our family, but because of our children, five adults in our family now know they're carriers of the defective gene. It's powerful for them to have the information when planning for a family in the future. There’s hope in knowing because we can be proactive in our son’s treatment and screening. What resources have you discovered to be helpful to care of your family? It's okay to say no when you need to and ask questions before you say yes. My biggest support has been social media and connecting with other advocates that give me hope. We're all rare, but we're not that different. Our struggles and wins remain the same and in the end, we're all connected as patients or parents. Following others, despite their diagnosis or journey, helps me to keep things in perspective. Global Genes and Courageous Parents Network are both great resources and provide comfort as we move through grief. LINKS & RESOURCES MENTIONED Rare and Relatable on Discord https://discord.com/invite/7UFUPAFs8K The Disorder Channel https://www.thedisordercollection.com/ Global Genes https://globalgenes.org/ Courageous Parents Network https://courageousparentsnetwork.org/ CPN Family Podcast Series https://courageousparentsnetwork.org/podcasts EveryLife Foundation https://everylifefoundation.org/ CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
January 20, 2022
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A Rare Collection – New Beginnings

ONCE UPON A GENE - EPISODE 117 A Rare Collection - New Beginnings There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. In this episode, guests share their stories of new beginnings. EPISODE HIGHLIGHTS Leah Moore In the spring, Leah and her family planted flowers in the garden, but only one flower grew. The single sunflower signified rebirth in the world, but also in the family. After the flower was damaged, someone surprisingly sent a new sunflower in the mail for the family to plant. The generous gift also fostered a realization about supportive friends and the meaning of new beginnings. Katie Lloyd Katie spent the prior year deep in the trenches of grief with no diagnosis for her son. She was overwhelmed and not coping well. The year was really hard with a raging pandemic that separated her from family and support. It wasn't long after her son finally received a diagnosis, that Katie was making friends with people in the rare disease community all across the world. With the new year, Katie spent time to process her emotions around what she had been through so she could let them go, moving forward, embracing a new beginning of hope for her family. Sean Baumstark Sean shares stories of starting over, including after a diagnosis of Friedreich Ataxia disease, which robs him of his ability to speak, write and walk. Through his experiences, it's apparent to Sean that things change, and that just as routine as the sun rises, new beginnings will come, but not always as you expect. But every new beginning is an opportunity to assess himself, what's important and how he wants to navigate change. What he makes of new beginnings is where the new happens, where discipline matters and where life gets exciting. Angela Rohaidy When you become a mom to a child with a genetic difference, you become several different people- the nurse, therapist, pharmacist and advocate. As a mom and caregiver, Angela's self care took a back seat to her daughter Eloise. This year is a new beginning with a focus on her daughter's needs, but also herself. TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
January 13, 2022
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Effisode – Rare Disease Day

January 11, 2022
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A Dads Fight to Survive Cancer and the Heavy Burdens of Rare Disease with Luke Rosen

ONCE UPON A GENE - EPISODE 116 A Dads Fight to Survive Cancer and the Heavy Burdens of Rare Disease with Luke Rosen Luke Rosen is a dadvocate who founded the KIF1A organization to seek a cure for his daughter Susannah who was diagnosed with KIF1A. Luke shares personal details about his recent medical difficulties and opens the raw dialogue around what happens when a caregiver dies.  EPISODE HIGHLIGHTS Can you tell us about your daughter and the KIF1A diagnosis? Susannah was diagnosed at two years old with KIF1A and at the time we could only find about 15 people in the world and in literature who had the disease mutation. KIF1A is a neurodegenerative disease with no treatment or cure. We knew we had to find more kids, so my wife Sally and I started the KIF1A organization to pull a community of patients, researchers and clinicians together.  Can you share about the medical difficulties you're personally facing? About 9 months ago, I thought I had kidney stones, which I had before. I took medication, got better and then I couldn't get out of bed one day because I was in so much pain. I went in for a CAT scan and I discovered that I had perforated diverticulitis. I had surgery, experienced some complications and went home after 5 days in the hospital. When I went back for my postoperative follow up appointment, the doctor told me a lot of cancer was removed during the surgery and that I had stage 3 colon cancer. I immediately started to think of Susannah and the research I was doing for her, wondering what would happen when I died.  As a man and dad, do you identify with keeping struggles to yourself or internalizing feelings?   I understand the idea of men going it alone, dealing with things independently, but I don't handle things that way. I always go to my father because he makes me a better father through his advice and guidance. My rocks to lean on are my father, my brother and my wife Sally and without them, I couldn't deal with everything myself. I think it's important to check in with yourself and remind those you love to check in with you too. What would you share with other parents who can relate to your story? For parents of rare disease kids, plan ahead and find a focused community so that if a storm does hit, the team of people around you can keep seeking treatment for your child without you. If you do that, you can relax a little, survive and enjoy the time you have left knowing the work will forge ahead.  LINKS & RESOURCES MENTIONED KIF1A Website https://www.kif1a.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
January 6, 2022
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Create Conversation, Community, and Change with Author of Loving You Big – Leah Moore

ONCE UPON A GENE - EPISODE 115 Create Conversation, Community, and Change with Author of Loving You Big - Leah Moore Leah Moore won a prestigious award for being teacher of the year in New York, she's the author of the memoir Loving You Big, and she's the parent of three kiddos, one of which was diagnosed with Cri du chat syndrome. EPISODE HIGHLIGHTS Can you share about yourself and your family? I am a high school English and theater teacher in New York and I live in Westchester, which is north of the city with my three kids and my husband. Our ten year old daughter Jordan has a rare diagnosis called Cri du chat which is a deletion of the fifth chromosome. We also have twin boys who are now six, one which has an unnamed disability and the other has Idiopathic thrombocytopenic purpura (ITP), which is a rare autoimmune disease.  You talk about loving the disability out of Jordan. Was that the inspiration for your book?  I started writing because my students were doing a personal narrative assignment and they were struggling. To show them how to do it, I wrote what was intended to be a silly example, but what poured out of me was a piece about the irony of language and how I have words and Jordan doesn't. When I read it to them, I realized I was holding on to stories I needed to tell.  What ideas do you have for people to become inclusion allies? It starts with avoiding staring at the playground, asking how to help, asking a person's name and asking someone to play. Saying hi is an easy first step.  How can we balance chronic stress with joy?  I personally believe that if we only stay in a negative place, it can color everything. I had to work at how to let it out. For me, it's through writing, through connecting to the people in my circle who I don't feel judgment from, or through watching Netflix on the couch. You have to do the work to figure out where you can let it out safely. I don't quite know the formula, I just know it's imperative.  How are you and your husband intentional about tending your marriage?  I think of the days of diagnosis and medical fears as the triage days. One of the fires I needed to put out was not my husband because he was able to take care of himself. And I realized at some point, we were just raising each other's children and our conversations were about milk and epilepsy medication. So I think it's a combination of three things- not taking on too much myself, having a life outside our children, and tapping into each other's humor. LINKS & RESOURCES MENTIONED Loving You Big Website https://lovingyoubig.com/ Spotlight Series https://lovingyoubig.com/spotlight-series/ Loving You Big book on Amazon shorturl.at/brzP8 Emotional Agility book on Amazon shorturl.at/jGL19 TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
December 30, 2021
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Effisode – The Kindness of Strangers

Intro music by Scott Holmes
December 28, 2021
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The Bravery of the Brokenhearted – A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman

ONCE UPON A GENE - EPISODE 114 The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman Noah Siedman was a big brother to Ben who had Sanfilippo Syndrome, a devastating disease that leads to childhood dementia and premature death. He joins me to talk about his sibling experience and dealing with grief. EPISODE HIGHLIGHTS As a sibling under potential pressure to not be a burden, do you still carry those feelings even after Ben's passing? It's hard as a sibling to see everything your parents are facing that's out of your control. As a sibling, there's a need to be on top of your own care and your own emotions. There were no casual complaints in my family growing up. It was either a disaster or business as usual. Filling in that middle space where you have a bad day and want to talk about it didn't exist. We've had to work on that as a family because that's not how we've functioned.  What coping mechanisms help you to write and talk about your experience? I came to the realization that I was going to be emotionally vulnerable, which is uncomfortable. Knowing I would have to talk about my experience and brother, I had to accept it, put it out front, and get really good at talking about it comfortably. I got more comfortable talking about the progression of my brother's disease and my feelings around him, and I used it as a shield.  What would you say to the young person who is living the same life you were living and what questions should people ask that person? The first thing that I would say, and maybe the best thing to ask that person, is about their roles. When do you feel like a sibling? When do you feel like a caregiver? When do you feel like you're an advocate? When do you feel like you are just you? I got stuck in trying to be a lot of those things at once, where the easiest role to ignore was being just me. But everything you push down morphs into something worse. Frustration turns into resentment, fear turns into trepidation, sadness becomes melancholy.  What are the misconceptions people have about death? The biggest problem with grief is that no amount of experience is applicable. It defies the ability to be prepared for it or to use your past to help you cope. I don't think grief gets easier, I think you get better at it. Those that try to give advice to people that are grieving are hanging on to the idea that that time will heal. It's not that your grief goes away, it's that you get better at it. How has your relationship with your sister changed? Ben's death brought us closer and we do a good job of communicating despite handling things differently. There's no right or wrong way to navigate life with a sibling who has a genetic disorder, so we don't judge each other and we're honest with each other.  As a parent, how do you help siblings to have a better experience? Abandon the idea that you owe siblings normalcy. My parents put a lot of effort into delivering normal childhood experiences. Instead, put that energy into helping your children articulate what they want. More important than chasing normal is helping siblings decide what's important to them and how to pursue it. LINKS & RESOURCES MENTIONED ONCE UPON A GENE - Episode 109 - A Rare Collection - What I Know For Sure with Noah Siedman, Grayson Skibington and Nash Hawkins https://effieparks.com/podcast/episode-109-what-i-know-for-sure CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
December 23, 2021
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A Rare Collection – Lullabies

ONCE UPON A GENE - EPISODE 113 A Rare Collection- Lullabies There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. In this episode, grandparents share their lullaby stories. EPISODE HIGHLIGHTS Maria In the classic lullaby, Hush Little Baby, when an item is broken, the mama will make it better. But there are things that a mama (or a grandma) can't fix. Emma was diagnosed at 6 months old and her parents’ and grandparents’ hopes and dreams went dark. The grief was all-consuming. There's no way to fix Emma, but her love is pure and perfect and her smile can light up the darkest night. Emma doesn't need to hush and grandma doesn't need to fix, but just be next to Emma along her journey.  Duane When Emma was born, her grandfather, better known as her grandpopotamus, held her on his shoulder and sang the lullaby, Go to Sleep. Emma loves music and her grandfather brings her joy through singing. He strives to find the joy and light in Emma's world so he can broaden it and ensure she enjoys her life to the fullest.  Mariana When her first child was born, Mariana realized she didn't know any lullabies. After her son had an accident, she learned the words to Hush Little Baby and sang it to comfort him in the hospital. As a grandmother, she continues singing Hush Little Baby to her grandchildren when she tucks them into bed. A lullaby isn't about how pretty your voice is, it's about your heart sharing comfort, care and love to a child that you get back a million times over. Poppy When taking care of his granddaughter Sloan, Poppy sang A Bushel and a Peck as he put her to bed. He sang that song to his own children hundreds of times, but this time was different. Sloan had just been diagnosed with a rare degenerative genetic disorder. The future will bring uncertainty and hardship. As Poppy sang, feelings of panic, worry and hopelessness took over. He loves her so much- a bushel and a peck. Alice Elijah is beating the odds, proving he has a purpose, blessing and encouraging every person he meets. His grandma has a message for him- to never stop singing his song, never stop dancing and never forget how much he is loved. TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
December 16, 2021
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Effisode – The Magic of Friendship at the North Pole

Intro music by Scott Holmes
December 14, 2021
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Being Mindful of the Sibling Experience with Founder of We Are Brave Together – Jessica Patay

ONCE UPON A GENE - EPISODE 112 Being Mindful of the Sibling Experience with Founder of We Are Brave Together - Jessica Patay Jessica Patay has three kids- one born with prader-willi syndrome. She joins me today to discuss the relationship and complexity of sibling's experiences and how she navigates the extra layer of parenting. She founded a nonprofit called We Are Brave Together, which hosts the Brave Together podcast. We Are Brave Together provides respite, community and mentoring for mothers raising children with disabilities and medical complexities. EPISODE HIGHLIGHTS Can you tell us about yourself and your family? I've been married to my husband Chris for over 24 years and we have three kids. Luke is 21, Kate is 16, and Ryan is 18 and has prader-willi syndrome, a rare genetic disorder.  What was it like having a child with a rare genetic disorder before there was connection through social media? I tried to keep up with email and chat groups, but I got overwhelmed with and would only pop in chats periodically to see what people were posting. I didn't know the beautiful connections I was missing like what you can form today. My husband and I joined prader-willi support groups, found our people very early in the journey, and we were able to create a tribe without the presence of social media.  What were your fears or hopes when having a third child? Ryan was an easy baby and it left us wanting another child. We thought about Luke a lot and wondered if he'd grow up feeling like an only child. We wanted him to have another sibling and we wanted another child ourselves.  Have Luke and Kate had to grow up faster than most kids? They've experienced crisis after crisis. They're amazing human beings who are resilient, wise, patient, loving and compassionate. It's really hard for siblings. We have tried, but there's no way of fully compensating for what they go through. Do you discipline all of your kids equally? Each kid is different, but Kate and Luke have been disciplined differently than Ryan because consequences don't work. I discipline on principle to demonstrate to Luke and Kate that Ryan does still have consequences despite them not changing his behavior. Can you tell us about We Are Brave Together? We are a 501c3 organization I launched in 2017 with the intent to combat the isolation and compassion fatigue that moms of children with disabilities or challenges face. Our focus is moms and we offer support groups, educational workshops, retreats and respite scholarships. We also launched a podcast, Brave Together. LINKS & RESOURCES MENTIONED We Are Brave Together Website https://www.wearebravetogether.com/ Brave Together Podcast https://www.wearebravetogether.com/podcast.html TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
December 9, 2021
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The Importance of Newborn Screening in Every State with ALD Alliance Founder Elisa Seeger

ONCE UPON A GENE - EPISODE 111 The Importance of Newborn Screening in Every State with ALD Alliance Founder Elisa Seeger Elisa Seeger lost her son Aidan as a result of Adrenoleukodystrophy (ALD) disease. As she was sitting next to his hospital bed researching this awful disease, she learned of a newborn screening test for ALD which wasn't being utilized. Since Aidan has passed away, Elisa has been determined to ensure the ALD newborn screening test is used in every state. Thanks to her advocacy, New York and 24 other states are now testing. Now her efforts extend beyond ALD and she's working to get all diseases with a viable treatment available to be on newborn screening tests across the country. EPISODE HIGHLIGHTS Can you tell us about Aidan? Aidan was born in 2004, perfectly healthy, giant blue eyes, full of life, and we had no reason to believe anything was wrong with him. He was walking at 10 months old, did well in school and played sports. In first grade, he started having some vision problems which prompted a diagnostic odyssey going from ophthalmologists to pediatric ophthalmologist to retina specialists and back to his pediatrician who recommended we see a neurologist. The neurologist didn't think anything was wrong, but ordered an MRI, and when the results of the MRI came back, Aidan was diagnosed with Adrenoleukodystrophy (ALD). ALD is an X-linked inherited metabolic condition, which most severely affects boys and men. Aidan was diagnosed with a cerebral form of ALD, which is the most severe. We began our mission to try to save his life, but he lost his life on April 29, of 2012.  Where is the gap of having a screening test for ALD and the fact that not one state in the country was using it on newborns? That's what I've been working on and putting all of my efforts into. There are currently four conditions on the federal recommended uniform screening panel that are not being screened for nationwide. Those include MPS-1, Pompe, ALD and SMA. I've realized the primary reason why states don’t move forward is because they don't have the funding to do so. There are currently only 17 states testing for all the conditions. My efforts have been focused on trying to get appropriations from the federal government to go directly to the states so this problem can be fixed. We're asking for  $15 million a year for every state to become Recommended Uniform Screening Panel (RUSP) compliant by 2025.  How has leading this crusade helped in the grieving process? I'm grateful to have so many families in my life that I've met along the way and I feel they've all been touched by Aidan.  How can people help in these efforts and what can they do in their own states? If anyone is interested, please reach out to me and I can share a one pager that explains what we're doing and where all the states stand. I need all the help I can get.  What has been a moment in your work over the last several years that's made you feel the closest to Aidan's memory? The signing of his law which was 11 months to the day of his passing and was very spiritual for me. I know he had his hand in that. I get frustrated at times, but little signs from Aidan keep me going. CONNECT WITH ELISA Email  [email protected] ALD Alliance Website https://www.aldalliance.org/ LINKS & RESOURCES MENTIONED Once Upon a Gene on Clubhouse https://www.clubhouse.com/club/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
December 2, 2021
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Effisode – Grief and Joy are Mingling this Holiday Season

Intro music by Scott Holmes
November 30, 2021
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Turkey Soup for the Soul and Stories About Rare Unicorns Who Show Up in Our Lives with Tyra Skibington and Tracey Beckett

ONCE UPON A GENE - EPISODE 110 Turkey Soup for the Soul and Stories About Rare Unicorns Who Show Up in Our Lives In this special Thanksgiving episode, Tyra Skibington and Tracey Beckett share stories of rare unicorns— people who go above and beyond in the rare disease community. Sam's Day A story of a Christmas tree farmer named Ted who makes it possible for kids to spend a day on the farm with their families, enjoying wheelchair accessible hayrides, hot chocolate, and choosing their special Christmas tree. A Beautiful Gift A friend offered a stay at her ski resort condo over the New Year holiday. It was a beautiful gift and was just what the family needed to slow down, recharge, heal and connect.  Craig When a family is blessed with a vehicle when they need it most, a chain of giving follows, bringing this story of generosity and kindness full circle. A Lesson in Friendship When a new girl moves into the neighborhood, her mother shows her the value and importance of being a good friend.  Our Daughter Harper A story of Dr. Harper, who went above and beyond when a couple received an in-utero diagnosis. She helped them through their early diagnosis with kindness, empathy and respect. A Little Goes a Long Way Surrounded by medical staff, two in particular go above and beyond and stand out among the rest. It's the little things like good coffee and a special visit that make a hospital stay a little better for Jordan and her mom. Darby's Birthday Every year, a Certified Education Assistant delivers a custom jacket to Darby on her birthday which has been modified to be easily worn.  A New Bike A story of angels gifting money to build a bike made especially for Ford. The donated bike makes Ford happy, but has also helped Ford to build muscles in his legs. Abby's Blessings A true unicorn friend, Abby's thoughtfulness, wisdom, kind and energetic spirit blesses those around her. LINKS & RESOURCES MENTIONED Move 2 Advocate https://move2advocate.com/ Freedom Concepts https://www.freedomconcepts.com TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
November 25, 2021
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A Rare Collection – Rare Disease Storytelling – What I Know For Sure with Noah Siedman, Grayson Skibington and Nash Hawkins

ONCE UPON A GENE - EPISODE 109 A Rare Collection - What I Know For Sure with Noah Siedman, Grayson Skibington and Nash Hawkins There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. Big brothers Noah Siedman, Grayson Skibington and Nash Hawkins share their sibling stories.  EPISODE HIGHLIGHTS Noah Siedman I'm afraid of losing my memories with my brother as I grow older. I'm afraid of letting his importance to me diminish in light of all of the new experiences that I get to have in his absence. My brother was a brilliant soul. His life meant growth,  understanding and love for everyone. My name is Noah Seidman. My brother Ben had a rare genetic disorder called Sanfilippo syndrome and passed away seven years ago. I know for sure that I love my brother. And I know that I'm slowly figuring out how to be okay despite not knowing a lot else for sure.  Grayson Skibington My sister Darby is two years younger than me and her diagnosis of Pallister-Killian syndrome is all I've ever known. For the first few years of my life, I was in the hospital a lot as the brother of a medically complex sister. I don't remember those days of course, but I have a scrapbook of pictures of me licking popsicles at the hospital. What I knew for sure back then, was patience equals popsicles. At age 17, I adapted to our family life by helping the best way I could. I stayed out of trouble, I did as I was asked, and I was positive and cheerful when the house needed it. Being a rare disease sibling can be complicated and messy. It can also be easy and wonderful. I don't take much for granted. I appreciate a helping hand and I will always be grateful for popsicles. Nash Hawkins Other homes don't have revolving doors of therapists. Other families go to restaurants and movies. We don't. However, my friends don't have a sister like mine who finds wonder in the mundane and whose belly laughs fills the room with joy, or a nonverbal brother who speaks volumes with his hugs and soul piercing stairs. Life with my siblings can be complicated and chaotic. Life with my unique family has taught me great things. I'm adaptable and resilient. Change, challenge and chaos do not faze me. I'm patient and empathetic. Because of my siblings, I recognize that disability is a diversity that colors our world in beautiful ways. RESOURCES AND LINKS MENTIONED https://courageousparentsnetwork.org/ https://curesanfilippofoundation.org/what-is-sanfilippo/ https://www.fam177a1.com https://siblingsupport.org/sibshops/ https://pkskids.net/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
November 18, 2021
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Effisode – Find the Connection

Intro music by Scott Holmes
November 16, 2021
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Finding Hope From Diagnosis to Action – LMNA Related Congenital Muscular Dystrophy – Hannah Lowe

ONCE UPON A GENE - EPISODE 108 Finding Hope: From Diagnosis to Action - LMNA Related Congenital Muscular Dystrophy - Hannah Lowe Hannah Lowe is the President and Co-Founder of the L-CMD Research Foundation. Her son Austin has a rare form of muscular dystrophy (L-CMD) caused by a genetic mutation and she's urgently working to find a cure for her son and other kids like him.  EPISODE HIGHLIGHTS Can you tell us about your children? I have two sons— Ean who is four and Austin who is two. Last year, Austin was diagnosed with a rare disease resulting from a randomly occurring genetic mutation. He was about 6 months old when he was diagnosed. Austin wasn't gaining weight, so after 6 months he was admitted to the hospital to get a feeding tube to aid in nutrition. He was in the hospital for three weeks while they ran a series of tests to find the underlying cause of his low weight. Every test came back clear until the genetic tests came back. That's when it was discovered that Austin has a single point mutation on the LMNA gene which results in L-CMD, which is a rare form of muscular dystrophy. What did you do after you got Austin's diagnosis? After getting a new routine worked out, we turned our attention to figuring out what we can do. We started making connections, talking to everyone and gathering information. L-CMD has a fair amount of research happening for the gene itself because genetic mutations of the gene cause about 12 other diseases. Through networking, we connected with a group of other rare disease families working on treatments and cures for their own rare diseases. With some helpful connections, we took baby steps to start a nonprofit. What roadblocks have you hit and what would you do differently? The biggest roadblock is expectation versus reality. When we first started, researchers told us the pace of research is slower than the progression of the disease. We didn't accept that, but it has been a big mindset shift to know this is in fact the case. CONNECT WITH THE L-CMD RESEARCH FOUNDATION L-CMD Research Foundation Website https://www.lcmdresearch.org/ L-CMD Research Foundation on Instagram https://www.instagram.com/lcmd.foundation/ L-CMD Research Foundation on Facebook https://www.facebook.com/LCMD.foundation L-CMD Research Foundation on Twitter https://twitter.com/foundationlcmd RESOURCES AND LINKS MENTIONED Discord Chat https://discord.com/invite/7UFUPAFs8K ONCE UPON A GENE - Episode 104 - A Rare Collection- Stories of Courage with Felix Townsin, Erica Jolene Stearns, Mahrynn McLaughlin and Brianna Colquitt https://effieparks.com/podcast/episode-104-rare-collection-courage Givebutter https://givebutter.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
November 11, 2021
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The Joy Doesn't Need to be Ambiguous Even Though The Grief is with Rare Merrf Disorder Mom – Jessica Fein

ONCE UPON A GENE - EPISODE 107 The Joy Doesn't Need to be Ambiguous Even Though The Grief Is - Rare MERRF Syndrome Mom Jessica Fein Jessica Fein is the mom to three children. Her middle child, 15 year old Dalia, has MERRF Syndrome, a rare form of mitochondrial disease. This degenerative disease has affected her being able to talk, walk or eat like she was able to do when she was younger. EPISODE HIGHLIGHTS Can you share a little bit about your children? We adopted three children from Guatamala— Jojo, Dalia and Theo. Dalia's birth mother is the only mother we've met. The first time we met her was when we went to adopt Dalia. A couple years later when we went back to Guatamala to adopt Theo, Dalia's birth mother wanted to meet with us. In just two years, her health had declined, but they weren't sure why. Years later when Dalia was diagnosed with MERRF Syndrome, we learned the condition is maternally inherited and what had made her birth mother so sick in such a short period of time.  What has Dalia's diagnostic journey been like? At first, Dalia developed normally. At about two years old, her speech was delayed and her toddling was wobbly. I was reassured she was fine, I'd call for early intervention again and we repeated this cycle for a while. Finally a doctor agreed to do a hearing test, which showed mild to moderate hearing loss and Dalia had to get hearing aids. Since Dalia was adopted, we weren't sure of the root cause of her hearing loss, so we did genetic testing. With the blood work results, Dalia's disease was immediately identified as myoclonic epilepsy with ragged red fibers (MERRF). When you imagined your family's future after adopting three children and then it changed so drastically with Dalia's diagnosis, what truths did you realize? I re-imagined my dreams once when we weren't able to have biological children. I was able to embrace a new dream and realize that in many ways adopting would be more interesting and adventurous. The re-imagining still unfolds because things continue to change with a degenerative disease. There's a sadness that for a long time, I didn't give myself permission to feel. More recently I became familiar with the idea of ambiguous grief— when you're grieving someone who is still alive or you're grieving parts of a person who is no longer here. It was freeing for me to understand I was grieving what I thought her life was going to be and what our lives were going to be. How has the experience of being Dalia's mom helped you find purpose? I feel committed to sharing Dalia's story and our story. Doing that has given me a lot of perspective and purpose. Part of my purpose is talking about it, raising awareness, sharing what I've learned and helping those who aren't as far along in their diagnosis journey. Dalia is such an amazing person and I want people to know her story. RESOURCES AND LINKS MENTIONED Once Upon Gene TV - Disorder Channel https://www.thedisordercollection.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
November 4, 2021
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Effisode – Cinderella, Cinderella

Intro music by Scott Holmes
November 2, 2021
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Rare Book Club with Co-Host Patti Hall – Featuring Heather Lanier and Her Book, Raising a Rare Girl

ONCE UPON A GENE - EPISODE 106 Rare Book Club with Co-Host Patti Hall - Featuring Heather Lanier and Her Book, Raising a Rare Girl Fellow rare moms, Patti Hall and Heather Lanier have shared their journeys in their memoirs. Patti is the author of Loving Large, a story about her experience raising her son who was diagnosed with a rare disease called acromegaly, also known as gigantism. Heather is the author of Raising a Rare Girl, about her daughter who has Wolf-Hirschhorn syndrome. EPISODE HIGHLIGHTS What is the synopsis of the book, Raising a Rare Girl? I start the book talking about a phenomenon called super baby, which is a pressure in pregnancy culture to make a superbaby— a totally healthy prenatal environment encouraged by medicine and the culture at large. Fiona was born full term, but really small at 4 lbs.10oz and no one initially knew why. Three months later it was discovered that Fiona had an ultra-rare syndrome known as Wolf-Hirschhorn. I talk in the book about how I processed the diagnosis and what it meant to have a child with questionable development, how to advocate for Fiona and how to help her carve her way into the world.  How did you arrive at beautiful acceptance? When someone would say something or make me feel like Fiona was broken, I looked to her and I saw that she was the most miraculous being in my life. Despite the noise around her, I knew Fiona was amazing. I returned to what I knew to be true of her and allowed her to be the light she is.  Did you receive responses from anyone outside of the rare community who read your book? I get notes and emails from parents who thank me because they're early in their diagnosis journey and it serves as a roadmap. I appreciate the reviews from readers who are outside the world of parenting a disabled kid, like a teacher who said she thought she was open to her students, but realized she had a lot of work to do.  Did you have a moment when you realized the experts were asking you for advice? I write about a time when Fiona had a fever and I thought we may need to see an immunologist. I'm waiting for the doctor, who was a very good doctor, to make the same conclusion. He turned to medical literature, struggling to spell Wolf-Hirschhorn, looking for anything about the immune system as it relates to the malformation. I knew kids with the syndrome often needed immune support and that was the moment when he started to trust me more.  RESOURCES AND LINKS MENTIONED Episode 033 - Loving Large: A Mother's Rare Disease Memoir https://effieparks.com/podcast/episode-33-loving-large Loving Large: A Mother's Rare Disease Memoir https://www.amazon.com/Loving-Large-Mothers-Disease-Memoir/dp/1459746368 Raising a Rare Girl  https://www.amazon.com/Raising-Rare-Girl-Heather-Lanier/dp/0525559639 TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
October 28, 2021
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Raising a Son with Batten Disease and the Importance of Never Giving Up with Project Sebastian Founder Christopher Velona

ONCE UPON A GENE - EPISODE 105 Raising a Son with Batten Disease and the Importance of Never Giving Up with Project Sebastian Founder Christopher Velona  Christopher Velona is a rare dad on a mission, driving the goals of Project Sebastian. He joins me to share open, honest and vulnerable experiences from his life since his son Sebastian was diagnosed with Battens disease. EPISODE HIGHLIGHTS Can you tell us about your family? I have two boys, ages 16 and 18, Gage and Sebastian. Sebastian has a rare disease called Batten disease variant CLN8. As a result of seizures, we were misdiagnosed with epilepsy. When Sebastian later had an onset of issues unrelated to epilepsy such as tripping, speaking, difficulty seeing and fine motor skill loss, we were referred for genetic testing and the diagnosis of Batten disease was confirmed.  What did you do with the diagnosis? I did everything the doctor said not to do. I went to WebMD and Google, scouring the internet for Batten disease and reading all the horrible stories online. I was also going through a divorce at the time and I was very angry, sad, resentful and lost. As the diagnosis only further drove us apart, I didn't have the support of a partner.  What has helped you transition into being a single dad and managing Sebastian's diagnosis? I had the support of my family and friends. I'm sober from drugs and alcohol for almost 26 years and I believe in Alcoholics Anonymous, applying the twelve steps to my daily life. With life-changing news, I had to really rely on my tools or face depression. I didn't want to believe it and it was challenging, which led to depression. I used the steps, went to meetings and was able to pull myself out of the depression. I found a mom that gave it to me straight- Kristen Gray from Charlotte and Gwenyth Gray Foundation. She has two children with Batten disease CLN6. She's been a great friend and great support system.  Can you tell us about Project Sebastian? Currently, there's no cure for Batten disease, but there are treatments available to prolong the life of the child. Project Sebastian makes a lot of noise, attacking advocacy and research efforts from all sides. I called my government officials and we co-authored Senate Joint Resolution 25 for Batten Disease Awareness Weekend, which went through the California State Senate and House and unanimously passed. As a result, the first weekend in June is Batten Disease Awareness Weekend for the state of California. RESOURCES AND LINKS MENTIONED Charlotte and Gwenyth Gray Foundation https://www.curebatten.org/ Neurogene https://www.neurogene.com/ Project Sebastian Website https://www.projectsebastian.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
October 21, 2021
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Effisode – Two Disabled Dudes

Intro music by Scott Holmes
October 19, 2021
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A Rare Collection – Rare Disease Storytelling with Felix Townsin, Erica Jolene Stearns, Brianna Colquitt, and Mahrynn McLaughlin

ONCE UPON A GENE - EPISODE 104 A Rare Collection- Stories of Courage with Felix Townsin, Erica Jolene Stearns, Mahrynn McLaughlin and Brianna Colquitt There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. Felix Townsin, Erica Jolene Stearns, Mahrynn McLaughlin and Brianna Colquitt share stories of courage. EPISODE HIGHLIGHTS Felix Townsin The day his sister lost her life to Blau Syndrome, Felix thought his world was over. Courage is the ability to do something that scares you or to have strength in the face of grief and pain. Felix knows he's learned to be courageous from Lexi, and he's learned that courage is moving through the pain with no shortcuts.  Erica Jolene Stearns Erica learned courage at a young age. As she grew, having courage meant going to the swimming pool with trach tape covering her trach, assuming the risk of diving into the water, and answering inquiries about her scars. She frequently found courage in herself when confronted by bullies. It took courage to ignore them and strength to persevere through the pain, facing the bullies again and again every day. In adulthood, courage was wrong with her child and saying it over and over again when she felt no one was listening.  Mahrynn McLaughlin Mahrynn shares a lesson from improv class. Leaning into living with her disability, Mahrynn sometimes feels too much or too little. In living with and not despite disability, she's learning to live courageously.  Brianna Colquitt Brianna used her training in CPR when she found her neighbor unconscious. She researched the heart, the signs and symptoms of a heart attack, which later helped her to quickly notice the signs in her dad. Through these experiences, she began working with the American Heart Association and has pursued a career in nursing. TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
October 14, 2021
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How We Can Balance and Understand the Unique Struggles We Face with Caregiver Fatigue, Compassion Fatigue, and Decision Fatigue with Counselor Rose Reif

ONCE UPON A GENE - EPISODE 103 How We Can Balance and Understand the Unique Struggles We Face with Caregiver Fatigue, Compassion Fatigue and Decision Fatigue with Counselor Rose Reif Rose Reif is a therapist with over 20 years experience specifically tailored to those with disabilities and caregivers and she's back to share her knowledge about the three types of fatigue we face and how we can find more balance. EPISODE HIGHLIGHTS What can we do as caregivers when the things we're doing for ourselves aren't enough? Ask someone devoted to you and ask what they see you doing that could be delegated to someone else. Usually it's not the things you're doing for yourself that's a problem, but it's the things you're doing to maintain everyone else. While we as humans like routine, we also get bored easily, so consider if the things you're doing for yourself aren't fulfilling or valuable anymore.  How do you handle potentially negative feedback if you get it? I encourage people to think of their lives as a compelling story where they're the hero. If we think of all the heroes we love, the characters have a guide and every hero needs a guide and truths along the way. Remember there's a reason you've gotten to the point you are where you're burned out and tired and acknowledge the greatness of having people in your life who speak honestly and make suggestions.  Can you explain what self care is? It's not the weekend mountain retreat doing yoga. Self care is boring. Self care is sitting down and doing a budget at the beginning of the month so you have accountability, can make wise decisions for yourself and avoid money stress through the month. Self care is brushing your teeth, making yourself doctor's appointments and committing to little acts through the day to care for yourself.  What is compassion fatigue? Compassion fatigue is when you experience a secondary traumatization, spending so much time with people who have gone through traumatic events that a person inherits the trauma experience. Compassion fatigue has physical ramifications in overall health and has a physical drain on the body. Compassion fatigue leads to an experience of trauma responses, dis-associating and going numb, losing the ability to care. Compassion fatigue is being newly studied in parents raising disabled kids. Can you describe Decision Fatigue? It has more to do with the decision maker and their wellbeing than the decision at hand. I encourage people to pre-make decisions and find ways to cut down on how many decisions you have to make in a day, especially where big decisions may be ahead. RESOURCES MENTIONED ONCE UPON A GENE - EPISODE 027 - Therapy Check-in with Rose Reif Taking Care with Rose Reif on The Disorder Channel Reif Counseling Services TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram Built Ford Tough Facebook Group Once Upon a Gene on Clubhouse
October 7, 2021
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Effisode – The Kids Do NAPA Center in Los Angeles

Intro music by Scott Holmes
October 5, 2021
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Strength – How We View It, Define It and Move Through Life with Rare Disease and Chronic Illness with Marni Cartelli

ONCE UPON A GENE - EPISODE 102 Strength: How We View It, Define It and How It Changes As We Move Through Life With Rare Disease and Chronic Illness - Marni Cartelli At a time in her life that everything felt out of control, Marni Cartelli took action. She is making changes for herself and our entire community, like the upcoming October 29th #Press4Hope Challenge. EPISODE HIGHLIGHTS How did you come into the world of rare disease and chronic illness? I entered the rare disease community in 2015 when I had an accident at my job as an OR Scrub. My shoulder dislocated and the pain was more severe than it should have been, even after my shoulder was back in place. Over the next year, we searched for answers for why the pain was increasing and why my shoulder repeatedly dislocated. One day my arm went blue and cold and my doctor knew what it was- a rare condition called sympathetic dystrophy (RSD) or complex regional pain syndrome (CRPS).  What experiences left you feeling the most hopeless and defeated? Soon after I finally had a diagnosis, I lost my job because of it. The other was through the course of fighting for treatments I needed, appeal after appeal. Going head first into advocacy was a wonderful way to connect to the rare disease community, but I did it without addressing the physical or mental challenges I was dealing with. When the pandemic hit and all my activities shut down which resulted in tremors, sweating, swelling, I couldn't dress and struggled to feed myself. I realized I never addressed my emotions, but buried them under things to do until I started on my journey of self-reflection that I never took the time to do after being diagnosed. What led you to choose a course of self-reflection? I was in a place to receive the message. Sometimes we hear things and we're not ready to hear them or take action, especially in the rare disease face. I realized I was done living my life in fear.  What is the #Press4Hope Challenge? The #Press4Hope Challenge will be taking place on October 29th at TCBOOST Sports Performance in Chicago. It's a fundraising event for Uplifting Athletes where I will be lifting my max amount of weight as many times as possible in ten minutes with a goal of breaking Northwestern's record of 6,525 pounds. I want to press over 7,000 pounds for the more than 7,000 rare diseases identified in the community.  RESOURCES MENTIONED ONCE UPON A GENE - Episode 095 - A Rare Collection- Skin in the Game with Adam Johnson, Nathan Peck and Marni Cartelli https://effieparks.com/podcast/episode-095-rare-collection-skin-in-the-game Barby Ingle http://barbyingle.com/ Uplifting Athletes https://www.upliftingathletes.org/ TCBOOST Sports Performance https://tcboost.com/ CONNECT WITH MARNI CARTELLI Marni on Instagram https://www.instagram.com/purrr_fectlyrare/ Marni on Twitter https://twitter.com/Purrfectly_Rare CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/  Once Upon a Gene on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene
September 30, 2021
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Finding Beauty and Connection When Raising a Medically Complex Kiddo with Melanie Dimmitt – Author of Special – Antidotes to the Obsessions that Come with a Child's Disability

ONCE UPON A GENE - EPISODE 101 Finding Beauty and Connection When Raising a Medically Complex Kiddo with Melanie Dimmitt - Author of Special: Antidotes to the Obsessions that Come with a Child's Disability Author Melanie Dimmit received her son's cerebral palsy (CP) diagnosis and she scoured the world for hope, stories, insight and companionship- desperate to know what she was up against and that everything was going to be okay. The result is her book, Special: Antidotes to the Obsessions that Come with a Child's Disability. EPISODE HIGHLIGHTS When you say not to feel ashamed of your feelings, what does that mean? At the beginning, it's hard because you have thoughts and feelings that make you feel like a terrible person because most of us come to disability with no experience or knowledge. I thought my son having a cerebral palsy diagnosis was the worst thing that could ever happen to me or him and it felt like the end of the world. You think terrible things, you feel like you can't talk to anyone about how you're feeling, and you have layers and layers of guilt. Getting a diagnosis and learning that your child's life won't be how you imagined is a form of grief. All of this is normal. Give yourself time and don't beat yourself up as you process through the thoughts and feelings you initially have.  Were you good at processing your feelings and moving on? I was good at being in denial and I didn't accept Arlo's disability for about six months. I began to see a psychologist who helped me to feel anger and sadness, to acknowledge how hard it is and that it's okay to feel how I feel. Professional help and connecting with other parents while writing my book helped me feel less alone. What moments with Odie do you savor because of Arlo? Everything. As she was growing up, it blew our minds how easily things came to her as we were working so hard with Arlo. Arlo is nonverbal, he doesn't roll, he doesn't sit and left to his own devices lies on the floor with a big smile on his face. He needs a lot of support, nothing comes easy and he's worked incredibly hard for head control, core strength and fine motor skills. There's a bitter-sweetness to Odie growing and hitting milestones, but having Arlo has made us more relaxed and better parents to Odie. If you were asked to submit a story to your book today, what would it be? Special is a gaping wound for me, though I'm glad it's there for parents just starting their journey. I feel entirely different now. The old me wouldn't want to hear the new me saying it's fine. I'd say to old me that I know I think people are pretending it's okay when it's not, and they're making the best of the scenario, but I promise that's not true. I promise you that you'll never wish this away. It's hard, unfair at times, times that Arlo is unwell and it's awful, but I wouldn't change any of it. Arlo is a phenomenal person, he's so much cooler than you can imagine. You are happier and more fulfilled than you ever would have been without Arlo. RESOURCES MENTIONED Special: Antidotes to the obsessions that come with a child's disability https://www.amazon.com/Special-Antidotes-obsessions-childs-disability-ebook/dp/B07QPDQC27 TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/  Once Upon a Gene on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene
September 23, 2021
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Effisode – Road Trip to NAPA Center

Intro music by Scott Holmes
September 21, 2021
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A Rare Collection – Rare Disease Storytelling with Kyle Bryant, Jennifer Siedman, Liz Morris and Ashley Fortney Point

ONCE UPON A GENE - EPISODE 100 A Rare Collection- Because of You with Kyle Bryant, Jennifer Siedman, Liz Morris, and Ashley Fortney Point There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. Kyle Bryant, Jennifer Sideman, Liz Morris, and Ashley Fortney Point share stories of rare disease. EPISODE HIGHLIGHTS Kyle Bryant, Living with Friedreich’s Ataxia Kyle was diagnosed with Friedreich’s Ataxia at age 17. It's a disease that affects balance and coordination and has symptoms of scoliosis, vision loss, hearing loss and life-shortening heart complications. At the time he was diagnosed, he ignored that his future would be much different than what he'd imagined. After a few years, he wanted to take a cross-country bike ride. Kyle reads a page from his book about how he convinced his parents to join him. Jennifer Siedman, Mother to Ben Jennifer loved a little boy with a rare disease called Sanfilippo Syndrome. That boy graced this Earth for 17 years with a big lion roar of a laugh and a gentle heart. He loved farms, tractors, baseball and chocolate donuts. His quiet determination convinced a researcher to pursue a treatment and because of it, there are other children today with Sanfilippo Syndrome who's future might look different than his. Jennifer knows who she is today because she was Ben's mother. Jennifer shares a story of her mother-in-law who, through her own determination, modeled the skills she would need to be the best mother and advocate she could be to Ben.  Liz Morris, Mother to Colson The Pacific Northwest is abundantly beautiful. Seattle's true appeal is in it's wild spaces. Carkeek Park in northern Seattle is one of Liz's favorites with organic healing powers she needs. Trails lead through the lush woods, there's an expansive shoreline with built-in driftwood seating and open green hills overlooking the sea and mountains. Liz and her husband sat on the beach at Carkeek Park on a hazy August evening in 2016 and talked of their future. They talked of the future they wanted for their future child, which Liz was six months pregnant with. Colson was born in October 2016. He was impacted by mitochondrial disease, a genetic disorder that compromised his body's ability to turn food into energy. Liz shares a story of living with enough. Ashley Fortney, Mother to Davis In 2014, Ashley welcomed her son Davis into the world after a difficult pregnancy filled with many hospitalizations and much worry. From the start, the doctors thought there might be something different about Davis. Davis was diagnosed with Koolen-de Vries syndrome at age 7, but he's continued to grow, learn and prove that nothing can stop him. Ashley shares all the ways that Davis has helped the family grow and find support from others in the community and all the ways he makes the world a better place. TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
September 16, 2021
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Strength and Inspiration Found Through Rare Disease for Advocacy and a Patient First Movement with CEO of Optime Care – Donovan Quill

ONCE UPON A GENE - EPISODE 099 Strength and Inspiration Found Through Rare Disease for Advocacy and a Patient First Movement with CEO of Optime Care - Donovan Quill Donovan Quill has made it his personal mission to help patients who suffer from an orphan disorder that has affected his entire family, Alpha-1 Antitrypsin Deficiency. His advocacy efforts have led to his role as the CEO and President of Optime Care, a nationally recognized pharmacy, distribution and patient management organization. Donovan is also the host of the Rare Voices podcast.  EPISODE HIGHLIGHTS Can you tell us about the Alpha-1 Antitrypsin Deficiency? Alpha-1 Antitrypsin Deficiency is a genetic disorder where the body doesn't make a protein that protects your lungs or liver from deterioration. Most of my family suffers from the lung effects of the disease, but my father had both the lung and liver related effects of the disease and passed away from liver failure. Most of my aunts and uncles passed away in their 40's from lung and liver components of Alpha-1 and my father passed away at 69 because of his treatment and the care model he managed and lived. What was the defining moment that shaped how you run Optime Care? My father had a bright light about him, was education focused and always wanting to learn and that rubbed off on me, learning as much as possible about the patients we serve and the disorders we work with. My parents instilled traits in me to do the right thing, make sure people are cared for, and treat everyone with respect. Diagnosis day is something my family experienced several times and it helps me to think about how patients react to and experience diagnosis and all that they go through. What rare patients go through on a daily basis has shaped what we are as a company, how we develop care plans and treat patients. What is the most meaningful thing that has happened since starting your company? I say the greatest metric we have is the relationships with our patients and the success of the company. The individuals who support the mission get letters from patients, invites to personal events like birthdays, holiday dinners and celebratory milestones. Patients stop in to see us when they're traveling in the area to meet their care coordinators and pharmacists. That's what has been the most rewarding for me, seeing the impact the care coordinators, pharmacists and nurses have on patients. It's a special, magical experience. Can you talk about the Rare Voices Podcast? Everyone has a voice and to really understand the rare disease world, you have to look at the patient perspective and also understand there's a lot that goes into bringing a drug to market, getting a drug covered or building a care program. So many people become their own advocates and push to bring about change in the world of rare disease, so we've found people to tell their story on the podcast. People aren't running away from their story, they're not hiding their story- they want to tell it and there's a mission behind it. The more we can get people to tell their story, the more awareness we can get around disorders and diseases that affect only a small number of patients. We want people to be aware of rare diseases that need more attention so we can get research, development and resources for finding treatments and cures. RESOURCES MENTIONED Once Upon a Gene on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene Optime Care https://www.optimecare.com/ Donovan Quill Linkedin https://www.linkedin.com/in/donovan-quill-428a9211 Rare Voices Podcast https://www.optimecare.com/rare-voices/
September 9, 2021
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Effisode – Ford Goes to Kindergarten

Intro music by Scott Holmes
September 7, 2021
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Five Common Errors Made by Recently Diagnosed, Emotionally Overwhelmed Families Without Monetary Resources or Connections with Perlara Founder and CEO – Ethan Perlstein

ONCE UPON A GENE - EPISODE 098 Five Common Errors Made by Recently Diagnosed, Emotionally Overwhelmed Families Without Monetary Resources or Connections with Perlara Founder and CEO - Ethan Perlstein Ethan Perlstein is Founder of Perlara and on Clubhouse every Tuesday and Thursday in the Gene Fixers Club.  EPISODE HIGHLIGHTS What inspired your work as an entrepreneurial scientist at Perlara? It started at a professional crossroads when my sister received a rare disease diagnosis and it opened my eyes to the rare disease world. With a new personal connection to rare disease, having heard from patient groups on Twitter and being a professional crossroad, Perlara was born.  Talk about the relaunch of Perlara 2.0. Originally Perlara 1.0 set out to be the first biotech public benefit company (PBC) with a patient-centered model, finding families and foundations to be drug co-developers. Perlara 2.0 revolves around cure sherpas and guided cures. Guided cures is the process of finding medicines for ultra-rare disease with cure sherpas- scientists who devote time to a family or foundation on their rare disease journey. At Perlara, we are acting as a marketplace to match up cure sherpas with families and foundations that need a guided cure.  How can patient groups create a self-sustaining financial model? Crypto technology is being applied in the world of financing and there's over a trillion dollars of value sitting in crypto assets, mostly bitcoin. This could be put to work through communities staking liquidity pools and putting crypto to work. Communities could also issue coins in stock as a way to fund raise. Small communities can find creative ways to bypass traditional funding gatekeepers and access potential market value and put it to work. Pioneers are needed to explore crypto enabled crowd-funding. Taxes and pharma profits are another way to raise funds. Funding follows the plan, not the other way around. What do you mean by that? With a focus on a deliverable, project, tangible goal- something to fundraise around with a crowd-funding campaign. It's great energy, but the challenge is when you've spent the funds and didn't get the desired outcome. The temptation in the beginning is to take any action, but energy should be thrown into more than one project and have a bigger plan so you can fundraise for contingencies and access additional funding partners. Where should parents seek out resources to begin fundraising and building a plan? Perlara, along with other organizations, offers resources to start. The first resource should be the scientist who has dedicated their career to the gene responsible for the rare disease. Identify who the scientists are in the beginning and make those connections. RESOURCES MENTIONED Once Upon a Gene on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene Gene Fixers Club  https://www.joinclubhouse.com/club/thegenefixers Perlara https://www.perlara.com/ Ethan Perlstein on Twitter https://twitter.com/eperlste CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/  Once Upon a Gene on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene
September 2, 2021
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A Mother's Story of Finding Your People, Accepting a Diagnosis and Loving Her Kid for Exactly Who She is with Jordan's Guardian Angels Mom – Carole Bakhos

ONCE UPON A GENE - EPISODE 097 A Mother's Story of Finding Your People, Accepting a Diagnosis and Loving Her Kid for Exactly Who She is with Jordan's Guardian Angels Mom - Carole Bakhos Carole Bakhos' eight year old daughter Yara was diagnosed with Jordan's Syndrome five years ago. She shares how being Yara's mom has been an enabling journey of love, fear, joy and hope. Carol is the Project Manager for Jordan's Guardian Angels.  EPISODE HIGHLIGHTS Can you tell us about your family? We started on the rare disease journey when my daughter was two years old, diagnosed with a rare disease in the gene PPP2R5D, now known as Jordan's Syndrome. At the time, there were six children in the world who were known to have the disease, so we weren't given a lot of information. Our journey started as one of fear of the unknown and isolation. The diagnosis wasn't the end of our journey, but the start of a world of self-educating, learning and connecting. Now we have a global family that understand our experience. How did meeting others help you take action and accept Yara's diagnosis? You realize it's not just about your child, but it's much bigger than that and the impact becomes that much bigger, more powerful and rewarding.  Were you able to keep working or did you stay home to care for Yara full time? The first three years, I tried to do it all— working and focusing on my career, meeting with Yara's therapists at lunch, coming home to work with Yara, staying up all night reading and researching, creating activities for her and obsessing over it all. I got used to this routine and one day I knew I had to stop. I took six months off to focus on Yara, getting research started, collecting data and organizing the group. It was a tough decision and I struggled with it. Fate was kind to me and I'm now able to channel my skill and passion into my work with Jordan's Guardian Angels, connect with other families and make a difference. What are your tips for changing your perspective and mindset in these circumstances? I remember a moment of sulking and I thought about Yara and realized I was letting a beautiful thing that came into my life be a source of pain. I didn't want her to bring me anything but joy. I decided to love and celebrate Yara and give her a chance to make me happy. While thinking of the future can sometimes feel overwhelming, I want to ensure I give Yara the opportunity to continue filling my heart with joy. What work is Jordan's Guardian Angels doing? Jordan's Guardian Angels was started by the Lang family after their daughter Jordan was diagnosed with what is now called Jordan's Syndrome. The foundation has put together a research team from ten institutions and we meet every other month to share updates on the work and treatments path. We were able to get a grant that launched our work forward and we continue to open doors and turn stones over. Jordan's Syndrome has now been connected to Epilepsy, Autism, Alzheimer's, Parkinson's and the work we're doing can potentially bring answers to all these sub groups too. RESOURCES MENTIONED Once Upon a Gene on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene Jordan's Guardian Angels https://jordansguardianangels.org/ A Rare Reality: the JGA Podcast https://jordansguardianangels.org/a-rare-reality/ CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/  Once Upon a Gene on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene
August 26, 2021
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Effisode – From the Sidelines

Intro music by Scott Holmes
August 24, 2021
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Finding Peace and New Energy to Dig Deeper After 18 Years Undiagnosed with Billie Short

ONCE UPON A GENE - EPISODE 096 Finding Peace and New Energy to Dig Deeper After 18 Years Undiagnosed with Billie Short Billie Short is the mom of a 20 year old daughter that has an undiagnosed rare disease. She shares what it's like to be a caregiver with chronic stress.  EPISODE HIGHLIGHTS Share a bit about yourself and your daughter. I've been caring for my adult daughter Emily for 20 years. She was a typical baby when she was born and I had an easy birth. At about three months old, I noticed she wasn't meeting milestones and we started testing. We've continued testing and determined she has some sort of genetic anomaly and we don't know what it is. Emily is non-verbal and non-ambulatory and has a lot of the same symptoms of Rett Syndrome.  How do you embrace not having a diagnosis? I'm at peace right now. If Emily never got a diagnosis, I would be okay. She is physically healthy and she's outgrown a lot of issues and I'm grateful for that. Recently, I've become more curious to seek answers as testing has changed, but not having a diagnosis offers some comfort in ignorance because I'm present focused and not diagnosis focused.  How have you managed your stress as a caretaker? The first 18 years, I was bitter and angry. In the last 2 years, I've learned to find the calm in the chaos and the zen in the zoo. It's been a mind change because this is our life and it's a beautiful life. I embrace the chaos and roll with it. My husband has depression which was brought on in part when Emily was born. When Emily was 18, he was able to get the resources he needed and we were able to break through that. So many parents don't take time to take care of their own health because they're focused on their children and when something forces you to face it, you have to re-evaluate everything.  How do you feel healthier as a caregiver? I started out trying to lose weight I gained over the years and I learned a lot about self-care and caregiver burnout. I learned to focus on my physical and mental well-being so that I could continue caring for Emily in the future. I also shifted my thinking of caring for Emily as a gift, not a burden. Changing the way I thought about caring for Emily really changed things. I'm a caregiver of myself first and ensure I'm rested, eating well and getting help from my resources so that I can be a caregiver to my daughter with an open heart, not resentment. How did you implement better self-care? I started turning the tv off and going to bed earlier so I could get up earlier and journal. I have an accountability group, I plan meals and plan as much as I can with my superpower- pivot and adapt. I know my plans may get interrupted, but I will figure out how to block time out later for it so it still happens. Part of my self-care has also been listening to podcasts which is getting me connected and helps me feel like I have the bandwidth to support other moms. RESOURCES MENTIONED Once Upon a Gene on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene Conversation for Change https://conversation4change.com/ CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/  Once Upon a Gene on Clubhouse https://www.joinclubhouse.com/club/once-upon-a-gene
August 19, 2021
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A Rare Collection – Rare Disease Storytelling – Skin In the Game with Adam Johnson, Nathan Peck and Marni Cartelli

ONCE UPON A GENE - EPISODE 095 A Rare Collection- Skin in the Game with Adam Johnson, Nathan Peck and Marni Cartelli There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring three people from the rare disease community, sharing a story with a common theme. Adam Johnson, Nathan Peck and Marni Cartelli share stories of having skin in the game. EPISODE HIGHLIGHTS Adam Johnson, DadVocate Adam made his way through the gates and into his field of dreams- Wrigley Field, home of the Chicago Cubs. He felt at home among forty thousand strangers, all his people coming together in one place, at one time for a common love and in support of a common hope. As the song "Take Me Out to the Ballgame" goes in Wrigleyville, fans root for the Cubs and if they don't win, it's a shame, but through dedication and persistence, Cub fans are still loyal fans through thick and thin. Adam shares that just as the Cubs have had bad days, he's too had bad days since he was diagnosed with a rare disease. Some days it seems he'll never win and some days the wins are among days of painful losses. The Cubs made it to the World Series in 2016 and won their first championship in 108 years. He holds on to hope that he'll step foot back in Wrigley Field with his children one day and that his rare disease will be cured. It's supposed to be hard. If it wasn't, everyone would do it. The hard is what makes it great. In spite of the losses, the victories along the way is what makes the hard great. Nathan Peck, CureVCP Nathan tells a story about being JV basketball in high school, having his front tooth broken off by another player. He was so angry that he threw the broken piece of tooth under the bleachers. But he got back in and finished out practice. Advocacy is about the skin in the game- having dedication, the want and desire to get it done together. Marni Cartelli, CRPS Patient and Advocate Marni credits football with saving her life. Marni was naturally loud as a child and her mom often said if she were the first born, she wouldn't have siblings. Her dad introduced her to football and she loved it. Marni and her husband share their love of football and have gone to an NFL game every year from the year they met until her rare disease symptoms onset. It's been six years since she's been able to carry on that tradition, four years since she tried to kill herself and three and a half years since her husband used her connection to football to help her back from the edge. Marni shares that her disease symptoms started and progressed very quickly. For months, she isolated herself, only seeing her specialists and husband. The disease progressed, leading to deeper depression. Marni's husband pushed to reconnect with her over football and it worked. Sundays eventually became less focused on the losses and treatment costs and all about dropped passes and crazy plays. LINKS AND RESOURCES Cure VCP Disease https://www.curevcp.org/ DadVocate  https://rarediseasedad.com/about Cure Mito Foundation https://www.curemito.org/ Uplifting Athletes https://www.upliftingathletes.org/ CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
August 12, 2021
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The 12 Commandments to guide you when you're starting a rare disease patient advocacy group – With Nasha Fitter and Mike Graglia

ONCE UPON A GENE - EPISODE 094 With The Mike and Nasha Part II FOXG1 advocate Nasha Fitter and SYNGAP1 advocate Mike Graglia are leaders in the rare disease community and two of the top parent leaders in the advocacy game. In this episode, they're sharing their knowledge, expertise and experiences in an information-packed masterclass on how to build a rare disease patient advocacy group, get funding and forge a path to a cure.  EPISODE HIGHLIGHTS Where do you start? The first thing to do is to build your team. If you've just been diagnosed and realized there isn't a patient group for your disease, build your team of other parents and recruit friends and family to help you. The next step is to build a scientific advisory board to go to for advice and guidance. How do you make connections with parents and experts? You'll have to do a lot with little knowledge or resources. As you build your team, encourage others to engage with their network and invite others to join the group. Strive to get roles filled for every category- clinician, geneticist, biotech and translational therapy.  How do you engage parents? Repeat your message again and again and realize that getting to a cure isn't a race. Act as a lighthouse to get researchers, clinicians, diagnosed and un-diagnosed families to gather around a common goal. Use the tools within reach- podcasts, newsletters and social media as a digital lighthouse, sending signals out to the community. Get on every platform and engage patients. What is a registry and how do you build one?  It's a legal entity that allows you to collect patient information and disease symptom data. The registry platform should be Institutional Review Board (IRB) approved, which means patients and caregivers have consented to information sharing so they can be counted as a patient and share their information with researchers. Once the registry platform is set up, use social media to explain the benefits and invite patients to join. How do you develop a path to a cure? Search for publications and contact the authors to discuss the research and inquire about developing a treatment. Understand the biology of the disease. If you don't have assets, think about the assets that mimic the core of the disease, making models of the disease for testing treatments and drugs and ensure finding are on open access. While you wait for biotech companies to test on your assets, you can create proof of concepts that make sense and are along your path to a cure. How do you get the money you need? It takes money and you'll need to raise money. You'll never know how much you can raise unless you ask. Invigorate the patient community to raise money and think big. RESOURCES MENTIONED ONCE UPON A GENE - EPISODE 047 - Ciitizen - Take Control of Your Own Medical Records and Advance Research with Nasha Fitter https://effieparks.com/podcast/episode-47-ciitizen-nasha-fitter ONCE UPON A GENE - EPISODE 041 - Time is Brain: SYNGAP Research Fund with Mike Graglia https://effieparks.com/podcast/episode-41-syngap-research-fund SynGAP10 Podcast https://www.syngapresearchfund.org/syngap10-podcast PubMed https://pubmed.ncbi.nlm.nih.gov/ Global Genes https://globalgenes.org/ COMBINEDBrain https://www.combinedbrain.org/ SLC6A1 Connect - Amber Freed https://slc6a1connect.org/ CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ 
August 5, 2021
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Leading the World Gene Therapy Program for CTNNB1 With Fellow Rare Mama – Špela Miroševič

ONCE UPON A GENE - EPISODE 093 Leading the World Gene Therapy Program for CTNNB1 With Fellow Rare Mama - Špela Miroševič Špela Miroševič is a fellow CTNNB1 mama to a two year old named Urban. She's done a lot of work to start a foundation for our CTNNB1 gene and get in front of scientists and researchers to find a treatment for our kids. EPISODE HIGHLIGHTS Can you tell me about Urban? Urban just turned 2 years old. He was born a perfectly healthy boy. My labor was perfect, Urban was given a perfect Apgar score and for the first three months everything was fine. It was then that I realized he should be holding his head more than he was and that his movements weren't connected. When I took him to the doctor for a routine check-up, she identified that something was wrong and ordered a brain scan, which began the journey of getting a diagnosis. What motivates you to accomplish all that you have for the CTNNB1 community? The moments I feel angry and hopeless. In those moments, I research to get closer to the hope that we won't always live like this and we can overcome the difficulties and struggles. Even though nothing I've tried has helped Urban, it has brought me a sense of control. I can't control Urban's condition, but it gives me strength to do something to help him even when it's not really helping at the end of the day. Can you tell me about the foundation you started? I'm research focused in psycho-social interventions to improve the quality of cancer patient's lives through mindfulness and psychotherapy. I knew how to read articles and was studying biopsychology, so I had knowledge of hormones, transmitters and about biology. I wrote to Amber Freed, the Founder of SLC6A1 Connect, to learn more about developing gene therapy. She connected me with other parents who led me down the path of developing a gene therapy. I called the head neurologist at the pediatric hospital in Slovenia and told him I wanted to create a gene therapy and he agreed to help me. He connected me to a Slovenian researcher known for his gene therapy studies and only one month later we met to discuss how we were going to make gene therapy for Urban and other kids affected by CTNNB1. I researched all articles on gene therapy, documented the researchers, I did a systematic review of the published research on CTNNB1 cases, noted common mutations, clinical features and suggested gene therapy approaches. With this data, I sent emails to all of the researchers and received great responses that gave me the strength to keep fighting. One email was from an Australian researcher with the Children Medical Research Institute where they have a laboratory for making gene replacement therapy for rare genetic diseases. They said CTNNB1 was a good gene for gene replacement therapy which meant I needed to develop a foundation and collect money to move forward. How will clinical trials work? We don't know yet, but we have secured an organization who will help fund the clinical trial of the gene therapy and give us a free spot at the laboratory. Once the clinical trial is approved in Australia, doctors can apply for use of the gene therapy which can be sent to any country so kids won't have to travel to Australia to get it. RESOURCES MENTIONED CTNNB1 Foundation https://ctnnb1-foundation.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ 
July 29, 2021
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Effisode – Your Kids, My Kids – They're All Perfect

Intro music by Scott Holmes
July 27, 2021
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Enabling Rare Disease Treatments with Sanath Kumar Ramesh – Founder & CEO of OpenTreatments

ONCE UPON A GENE - EPISODE 092 Enabling Rare Disease Treatments with Sanath Kumar Ramesh - Founder & CEO of OpenTreatments Sanath Kumar Ramesh’s son is one of only nine kids worldwide with an ultra-rare genetic disease called Sedaghatian Type Spondylometaphyseal Dysplasia (SSMD). He has a podcast called Raising Rare where he and his wife talk about their journey, finding a treatment for their son and they feature stories of others in the rare disease community. Sanath is joining me on this episode to talk about his new software platform called OpenTreatments, a nonprofit organization with a mission to enable treatments for all genetic diseases. EPISODE HIGHLIGHTS Can you tell us about yourself and your family? I have a 2 1/2 year old boy named Raghav who was born with challenges and he continued to miss milestones through his first year of life. On his first birthday, we learned he has an ultra-rare condition caused by a mutation in the gene GPX4. When Raghav was diagnosed with SSMD, we thought he was the only patient, but we've since found 8 other patients worldwide.  Can you tell us about OpenTreatments? My idea is to collaborate the knowledge and experience of biotech companies and academic researchers to help patient foundations build and run their gene therapies. We are starting with a pilot program of four diseases to understand how well the software program is working and identify any challenges the programs are experiencing. Our mission is to enable treatments for all genetic diseases regardless of rarity or geography. How can parents or patient groups work with OpenTreatments? There's a lot of risk in the drug development process and the amount of risk we take on is not like any investment any one of us has ever done in our lives. Even wealthy venture capitalists don't invest in drug developments because there's a high risk of losing money. For parents who have just received a diagnosis, they're struggling to understand what life has in store for them and embarking on drug development isn't well aligned. We focus mainly on patient groups who have a foundation started, have raised money and have a scientific advisory board.  Do you think biotech and pharma companies will eventually take interest in rare disease treatment missions? It's a challenging problem and I think the bottom line is risk. Pharma isn't interested in rare diseases with such a limited number of patients, like my son's disease, because the risk to treat a patient where a potentially adverse reaction can happen is a risky unknown. The decision becomes whether or not the risk is worth the benefit and what the benefit is when treating such a small number of patients. When there is a larger group of patients, there's also a bigger commercial upside and it's likely worth the risk to explore treatments. Several ideas have been proposed for getting ultra-rare diseases an alternate path to drug therapy, including getting more regulatory support or building collective treatment for ultra-rare diseases. Insurance providers could also potentially pay for the research and development of drug therapies because their spend burden is high over the lifetime of a patient. I don't know what the future holds, but I do know that we need more people in drug development so ideas can be tried and tested. RESOURCES MENTIONED Raising Rare Podcast https://www.raisingrare.fm/ OpenTreatments https://www.opentreatments.org/ Cure Raghav https://www.curegpx4.org/ CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
July 22, 2021
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A Rare Collection- Re-Runs with Patrick James Lynch, Anna Laurent and Michelle Morganoff

ONCE UPON A GENE - EPISODE 091 Episode 091 - A Rare Collection- Re-Runs with Patrick James Lynch, Anna Laurent and Michelle Morganoff There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring three people from the rare disease community, sharing a story with a common theme. Patrick James Lynch, Michelle Morganoff and Anna Laurent share stories of re-runs. EPISODE HIGHLIGHTS Patrick James Lynch Patrick shares a story of him and his brother growing up with hemophilia, going to summer camp every year and getting to meet kids affected by a range of illnesses. They later went on to be camp counselors. After Patrick's little brother died, he was devastated and spent years struggling to move forward. He went back to camp as a head counselor, to find himself, to feel productive, to recollect the memories of the summers he spent at camp with his brother. With the closing announcements at the end of summer camp, Patrick felt he had said his final goodbye and realized that no re-run is ever the same as it is the first time you watch it. Michelle Morganoff Special is a new comedy series on Netflix that has Michelle hooked. Special is about a young gay man with cerebral palsy, navigating his way into adulthood and dealing with the real issues that exist in our society. Michelle shares how certain episodes keep her coming back to watch the re-run time and time again. She reflects on how the story lines of each episode make her feel validated, feel seen and how her observations impact her as a mother to her two children- one neurotypical and one neurodiverse.  Anna Laurent Anna shares a story about a small girl who can't be still, scratching her body, in discomfort, and mesmerized by Mulan on the TV. Night after night, the girl fixates on Mulan, she smiles and giggles and she's content with the movie's ending. She watches the movie over and over until her hands slow, her body relaxes and she's finally able to drift off to sleep. For years, the girl is affected by the symptoms of Alagille Syndrome and watching Mulan is her only ticket to a restful night's sleep. Anna shares how the movie offered comfort in difficult, medically complex times and how it still brings joy into her life as a young adult. TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
July 15, 2021
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Effisode – Family Camp, Annoying Brothers, and the Doom of Packing

Intro music by Scott Holmes
July 13, 2021
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Mental Health and living with chronic stress with Rare Disease Dad and Psychologist, Al Freedman, Ph.D

ONCE UPON A GENE - EPISODE 090 Rare Disease Dad and Psychologist Al Freedman, Ph.D Al Freedman, Ph. D is a rare dad to a son with Spinal Muscular Atrophy (SMA), a psychologist who specializes in supporting families affected by rare disease and disability, a speaker, author and such a nice guy. There's a lot of wisdom to gain from his personal experience as a rare disease dad and his professional expertise. EPISODE HIGHLIGHTS Can you tell me about yourself and your son? My son's name is Jack and he was born a healthy baby in 1995. Six months later he wasn't sitting up, rolling over or developing normally. The pediatrician advised us to take Jack to a pediatric neurologist. Jack was soon diagnosed with an untreatable condition called Spinal Muscular Atrophy (SMA) and that he wouldn't be with us for more than a year from his diagnosis. We were traumatized by the diagnosis and prospect of losing our baby, but 25 years later I'm blessed he's still with us. I'm lucky to be his dad and have him here to guide me to help other families facing similar challenges. Were you a Psychologist at the time of Jack's Diagnosis? I was finishing my doctorate in counseling psychology and in my year of internship, so I was just out of school. I planned on being a psychologist, but hadn't planned on needing one so acutely in the middle of my internship. I found myself on both sides of the therapy room. What is the difference between trauma and PTSD? PTSD stands for Post Traumatic Stress Disorder, so it's a form of trauma, but trauma can take on many forms. In working with many families facing rare disease diagnosis and the challenges that come with that, the first thing that's important to know is that they're not crazy but the symptoms can make you feel crazy. Trauma symptoms are real and normal- a normal reaction to very unusual stressors. Does trauma or PTSD ever go away? Most people at the beginning of a rare disease diagnosis journey are more fragile and have more pronounced symptoms due to their lives being flipped upside down and they're disoriented. After time, people are able to meet other people they relate to and get practice in the new world. Depending on the journey and experiences, some may have ongoing trauma responses to triggers. What are the long term effects of living with chronic stress? A lot of the most complicated things I see as a practicing psychologist are solved by looking at three basic things- how you are sleeping, how you are eating and if you can exercise. We can't function well without sleep, proper nutrition and exercise. Long term chronic stress can impact your mental health and eventually your physical health so it's important to care for the caregiver. What message would you like to share with everyone listening? Never give up and keep your hope alive for yourself, your kids, your family. I never imagined back in 1995 that Jack would live this long and be so vibrant. I never imagined something so positive could come from something so painful. Have hope that you'll find meaning in your experience. CONNECT WITH AL FREEDMAN Freedman Counseling Associates Website https://www.freedmancounseling.com/ Freedman Counseling Associates Facebook https://www.facebook.com/freedmancounselingassociates/ Al Freedman Email al@freedmancounseling.com Al Freedman Linkedin https://www.linkedin.com/in/albertfreedman/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
July 8, 2021
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Discovering New Treatments for Rare Genetic Diseases with Modelis CEO and Co-Founder James Doyle

ONCE UPON A GENE - EPISODE 089 Discovering New Treatments for Rare Genetic Diseases with Modelis CEO and Co-Founder James Doyle Exposed first hand to research of genetic diseases and the lack of information known, my guest quickly realized the need to streamline the process of translating genetic data into therapeutic discoveries. James Doyle is the Co-Founder and CEO of Modelis whose mission is to rapidly advance personalized drug discovery for rare genetic diseases.  EPISODE HIGHLIGHTS What is your background and what drew you to this field of research? I'm a scientist by training, but an entrepreneur by spirit. My background is in molecular genetics and I like to understand how genes work, what they do and how mutations of genes influence function and lead to a disease. Along with a couple of colleagues, Modelis was founded which is a biotech company that does drug screening and translational drug discovery for rare genetic disorders using small animal models to accelerate the process.  What is translational drug discovery? It's the bench to bedside approach of taking findings from a lab to a clinical, real world setting where they can have a real world impact.  What is the process for a patient organization or advocacy group who is seeking research? An initial feasibility study is conducted on small animal models to see if the gene is a good candidate for the models. Genetic avatars of the patients are created with worms using genetic engineering techniques. The animals are used to better study the disorder, the underlying causes of the disease and drug screening. The worms are used to rapidly discover drugs with a high translational potential. The next step is to validate the findings in zebra fish and then potentially a rodent model to further validate drugs. How does Modelis help to accelerate research? For a lot of disorders, it's rarely a one-size-fits-all equation. Research can be accelerated through leveraging different approaches in a complimentary manner, like exploring drug repurposing with small animal models while also pursuing gene therapy.  What is the cost for a patient organization who is seeking drug research? It depends, but it's a customized approach based on each specific disorder. We work with groups through venture philanthropy or social impact investing and strive for collaborative wins that can be shared back with the community who initiated the research. LINKS AND RESOURCES MENTIONED Once Upon Gene TV - Disorder Channel https://www.thedisordercollection.com/ CONNECT WITH MODELIS Modelis Website https://modelis.ca/ Modelis on Twitter https://twitter.com/ModelisLabs Modelis on Facebook https://www.facebook.com/ModelisLabs/ Modelis on LinkedIn https://ca.linkedin.com/company/modelis-inc TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
July 1, 2021
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Effisode – Heatwaves and a Happy Birthday

Intro Music by Scott Holmes
June 29, 2021
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Living with Persistent Uncertainty without a Rare Disease Diagnosis with Meghan Halley

ONCE UPON A GENE - EPISODE 088 Living with Persistent Uncertainty Without a Rare Disease Diagnosis - Meghan Halley I met Meghan Halley on the NORD Living Rare Living Stronger planning committee. She co-chairs the patient and family support group for the Undiagnosed Diseases Network. She's a Stanford research scholar and a mom to her undiagnosed son Philip.  EPISODE HIGHLIGHTS Can you share about yourself? I'm the mom of three kids and my middle son Philip, who is six years old, is undiagnosed with a rare condition. I've become more involved in advocacy as it relates to access to diagnosis for individuals with rare disease, particularly ultra rare. Because Philip is a patient in the Undiagnosed Diseases Network, I became involved in advocating UDN as a resource for the rare disease community. I am a medical anthropologist and a research scholar at the Center for Biomedical Ethics (SCBE) at Stanford University. I do research on the experiences of patients and families with ultra rare and undiagnosed diseases, with a particular focus on how stakeholders involved in providing sequencing have different values and how that determines who has access. Philip is at the core of everything because after three years, he still doesn't have a diagnosis.  Why are you advocating for the UDN as a resource? Philip had several complex medical issues which didn't fit together and we were introduced to the UDN. It was developed and expanded as the tools of exome and genome sequencing for diagnosis of rare disease was better understood. With the expansion they identified clinical sites and scientists interested in advancing the science of rare disease diagnosis through a case study approach where they worked with patients and families who had clinical indicators, but no genetic diagnosis. I became more involved to support patients and families, but I've learned the program will eventually be de-funded and the operation and support of families and patients from the UDN for will be at risk.  How do you embrace the uncertainty of having an undiagnosed child? I definitely live with uncertainty having a child with complex medical needs with no data to guide us. Managing decision making is the hardest aspect, as well as not knowing what the future holds. Without a diagnosis, we can't even begin to think about therapies and we don't have the benefit of connecting with others on research and advancement that others can take advantage of. Being a mom, it's difficult to maintain normalcy for my other children, find balance and take care of myself through daily life. What advocacy outcomes are you most proud of? My husband and I are still a team, my children are happy and thriving. I began by advocating for Philip, but as I've forged, pathways have stayed open for other families. I'm proud of what I've been able to achieve in getting services for Philip and he's thriving above and beyond what would probably be expected. I'm still learning from others how to navigate advocacy and I'm excited to keep learning from others who do this work so effectively in the rare disease community. I'm proud to be a part of this community and I'm grateful for the relationships I've formed. TUNE INTO THE ONCE UPON A GENE PODCAST Once Upon Gene TV - Disorder Channel https://www.thedisordercollection.com/ Undiagnosed Diseases Network https://undiagnosed.hms.harvard.edu/ Undiagnosed Diseases Network - Facebook https://www.facebook.com/udnconnect/ UDN Families - Facebook https://www.facebook.com/groups/udnpeer/ When All You Have Is Quality of Life — Making Medical Decisions in the Face of Uncertainty https://www.nejm.org/doi/full/10.1056/NEJMp2001574 CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
June 24, 2021
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A Rare Collection – Superheroes

ONCE UPON A GENE - EPISODE 087 A Rare Collection - Superheroes This is a new edition to the podcast that is built on the power of storytelling. This extra special first episode of A Rare Collection will be released once a month and will feature three people from the rare disease community sharing a short story. This month's theme is Superheroes. EPISODE HIGHLIGHTS Casey Parks, Father to Ford with CTNNB1 Casey shares a story from when he was little, going to the comic book store with his dad and brother. His favorite comic was Captain America. As he grew, he still loved superheroes and looked forward to introducing his kids to the world of super heroes in the same way his dad did for him. He hoped his son would love Captain America as much as he did. Casey shares about his son Ford, born with a rare genetic condition called CTNNB1, and how the things he remembers from his childhood, the things he wanted to share with Ford, probably won't be a part of their father-son journey the way he imagined. But what it's taught him instead is that Ford is his real life Captain America. Bo Bigelow, The Rare Disease Film Festival, The Disorder Channel Co-Founder, Father to Tess with Hao-Fountain Syndrome Bo tells a story about a boy he met, a 7 year old superhero. He shares about his 11 year old daughter Tess who has Hao-Fountain Syndrome. She doesn't talk, she has autism, seizures and intellectual disability. At a picnic on a hot summer day, Tess was overheating and miserable. The picnic where Bo was hoping to connect with other parents and other children like Tess had left him feeling isolated and disappointed. Departing the picnic gathering, Bo took Tess to the beach to cool off in the water. A 7 year old boy stood by in the water watching Tess. He asked about her. He asked how old she was. He asked why she didn't talk. He was interested and curious about Tess. When Bo told the boy that Tess didn't speak, the boy reacted with a heroic statement. The boy saved the day. He was a superhero. Daniel DeFabio, The Rare Disease Film Festival, The Disorder Channel Co-Founder, Father to Lucas with Menkes Daniel compares the strengths of superheroes and the often opposite comparison of kids with rare disease- that they can do less than others and there's a lot they cannot do. Daniel's son Lucas needed a wheelchair and needed a food tube. Instead of focusing on Lucas' lack in ability to speak, he focused on his expressions, how infectious his grin was and laugh were. People found his gifts remarkable. With all his challenges, he found and exuded joy and inspired others to do the same. Lucas used the superpowers he had to do good and spread good to those around him. What would you do if you had superpowers? CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
June 17, 2021
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Effisode – Making Cents of it All

Intro music by Scott Holmes
June 15, 2021
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Why a Diagnosis Matters with HNRNPH2 Rare Mom Angela Lindig

ONCE UPON A GENE - EPISODE 086 Why a Diagnosis Matters with HNRNPH2 Rare Mom Angela Lindig Angela Lindig's daughter had a diagnosis of Atypical Rett for years, but was recently diagnosed with HNRNPH2. Angela runs Idaho Parents Unlimited, which supports, empowers, educates and advocates to enhance the quality of life for Idahoans with disabilities and their families. Amber is also working on a campaign about why diagnosis matters and is working to help families access whole exome sequencing (WES) tests. EPISODE HIGHLIGHTS Can you tell me about yourself and your family? I am the Director of a parent center and my work is in working with children who have disabilities and my own child is what brought me to this work. My daughter Amber is 25 years old and is dealing with an ultra rare genetic condition that was diagnosed when she was 23. I knew something wasn't right when Amber was 4 months old. It was at a class reunion we attended where everyone had babies that I was able to observe. Amber was floppy and had low muscle tone and she wasn't doing things I noticed the other babies doing. We talked to the pediatrician about the delays we saw and at 5 months old, she had an MRI done that didn't reveal anything and we started early intervention services. The testing continued for many years looking for what Amber's condition could be. If Amber didn't get her diagnosis, what would be different in her health journey? Her diagnosis is HNRNPH2 disorder, a mutation on that gene on the x chromosome and there are only about 100 identified families affected. We're all learning together and we've identified a lot of characteristics in Amber, like a conical vision impairment and self-injurious behaviors. The collective knowledge will lead to treatments of symptoms and the whole condition.  Was there grief in getting a new diagnosis? I had no grief with the new diagnosis. I burst into tears when we got the diagnosis because it was such incredible relief to finally know and have the opportunity to connect with other people. Can you share about Amber's adult independent living arrangement? I have a friend who has a daughter that's two years younger than Amber and has angelman syndrome. We talked and then brought our daughters into the conversation and they wanted to live together. We rented a town home to ensure they would be compatible roommates and we arranged a supportive living agency to provide staff. After 9 months when we realized the arrangement was working well, we bought a home the girls live in and we stay very connected every day. Amber is thriving and the support staff keeps her as involved in the community as possible. There may even be opportunities for supportive employment in the future, dependent on her continued developmental growth. LINKS & RESOURCES MENTIONED Online Mendelian Inheritance in Man https://www.omim.org/ Idaho Parents Unlimited https://ipulidaho.org/ The Yellow Brick Road Project https://yellowbrickroadproject.org/ Writing Wizard https://lescapadou.com/wp/en/writing-wizard-app/ CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
June 10, 2021
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Helping to Further the Patient Impact of Genomics with DadVocate and Genome Scientist at Congenica – Charles Steward

ONCE UPON A GENE - EPISODE 085 Helping to Further the Patient Impact of Genomics with DadVocate and Genome Scientist at Congenica - Charles Steward Charles Steward was one of the first scientists to work on the human genome project, led the original research analysis for human chromosome 10 and has established international collaborations on various projects. He's currently the Patient Advocacy and Engagement Lead for Congenica. He's a brilliant scientist and a super DadVocate to two children with rare diseases and medical complexities. EPISODE HIGHLIGHTS Can you tell us about your background and experience with rare disease? In 2013, my wife and I had a baby girl and she was in intensive care for a month as a result of being born prematurely. My daughter was about 8 months old when we noticed she wasn't doing things she had been doing- taking interest in things and her surroundings, laughing or smiling. She started making movements, her eyes rolled and her head would shoot to one side. She was diagnosed with West Syndrome, a serious type of epilepsy that can be fatal. My son was born at 28 weeks and suffered catastrophic brain damage during birth. Being a genome scientist and the father of two children with severe neurological disorders I've thrown myself into the world of advocacy and have a specific interest in cerebral palsy and epilepsy.  As a scientist and then a rare disease dad, what did you notice from the patient perspective? One of the most amazing things was being in contact with clinicians because they genuinely care for patients. Some of the clinicians that worked with our family, I also worked with professionally through Congenica. I also spoke a lot with scientists and I noticed that there was little exposure to the patient voice. When I spoke to them about it, they were struck by the importance of what they were doing. If patients can get in front of scientists, it makes a difference in the work they do. How do you balance your career, advocacy work and being a dad to two kids with severe healthcare needs? My children are healthy in that their seizures are controlled. My wife cares full time for the children and she spends the day talking to therapists, talking to physicians, arranging appointments and coordinating equipment maintenance. It's sometimes difficult to separate my career and advocacy work because I'm always connecting and speaking with people and sharing ideas and my passion is more than a career. What advice do you have for other dads? People deal with things and cope in very different ways. What's important for me is to be supportive of my wife who does the heavy lifting. I think it's a dad thing to do throwing myself into my work. It's difficult, but important that as dads, we share the burden. LINKS & RESOURCES MENTIONED Rare Disease Fair http://rarediseasefair.com/ Congenica https://www.congenica.com/ International Cerebral Palsy Genome Consortium https://icpgc.org/ CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
June 3, 2021
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Relief and Inspiration for Mothers of Children with Rare Diseases with Angel Aid Cares Founder – Cristol O'Loughlin

ONCE UPON A GENE - EPISODE 084 Relief and Inspiration for Mothers of Children with Rare Diseases with Angel Aid Cares Founder - Cristol O’Loughlin Angel Aid Cares works to provide connection, relief and support to caregivers. The founder, Cristol O'Loughlin is sharing her story that begins with her role as a rare sibling and unfolds with heartbreak, passion, grit and grace.  EPISODE HIGHLIGHTS Tell me about your childhood and how you're connected with rare disease. I am the youngest of five children. I have 4 older brothers and my oldest brother is still living. Three of my four brothers were born with Mucopolysaccharidosis (MPS) disease, also known as Hunter syndrome. My brothers were very sick and passed away at 12, 18 and 19 years old.  Tell us about Angel Aid Cares. In my mid twenties, I started thinking about having a family and the questions around fertility and being a carrier of a rare and deadly disease. I started looking into genetic testing and what I learned about MPS was impactful enough that I wanted to do something about it. I met other families and children at a conference and came back with a lot of passion in my heart. I connected with my sorority sisters and we decided to fund raise with the National MPS Society. We threw parties and pulled together money, it was matched by the National MPS Society and we launched and released our first research grant. That grant went to a researcher named Dr. Emil Kakkis, the CEO of Ultragenyx. He had the novel idea to take a missing enzyme and create a synthetic version to flush through the body. That research went on to clinical trial and eventually standard of care treatment for young patients of Hunter syndrome. Young men who used to pass away in their teens like my brothers are now on active treatment. What's missing from the rare disease community is the mental health and wellness resources that Angel Aid Cares is focusing on. We launched as a 501c3 and we focus exclusively on mental health and wellness services for mothers and all caregivers in the rare disease space. What do you want listeners to take away from this episode? Sustainable self care comes from small little things you do to remind yourself that you are you. Separate from the person you're caring for, you deserve the love, empathy and care you give to others. If you need help, text SIGNS to 741741 and access the 24/7 Crisis Text Line. CONNECT WITH ANGEL AID CARES Angel Aid Cares Website https://www.angelaidcares.org/ Angel Aid Cares on Instagram https://www.instagram.com/angelaidcares/ Angel Aid Cares on Facebook https://www.facebook.com/angelaidcares Angel Aid Cares Resources https://www.angelaidcares.org/partners Angel Aid Cares Events https://www.angelaidcares.org/events LINKS & RESOURCES MENTIONED Bloodstream Media - Once Upon a Gene https://www.bloodstreammedia.com/shows/once-upon-a-gene Caring for the Caregivers TEDx Talk https://www.angelaidcares.org/tedx National MPS Society https://mpssociety.org/ Ultragenyx www.ultragenyx.com CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
May 27, 2021
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Advocates Come in Small Packages – My Life with Blau Syndrome with Keira Howell

ONCE UPON A GENE - EPISODE 083  Advocates Come in Small Packages - My Life With Blau Syndrome With Keira Howell Keira Howell is a twelve year old living with Blau Syndrome joining me to share her story of living with a chronic disease. EPISODE HIGHLIGHTS Tell me about yourself. I'm twelve years old and I have Blau Syndrome. I love to act, sing and do anything related to musical theater.  Why would you like to tell your story? I've done presentations at school, but want to expand the people who know my story through the podcast because it's a rare disease and I want to spread awareness. What is Blau Syndrome and what are the symptoms? The symptoms that affect me are arthritis, uveitis, rashes and swelling. Blau Syndrome is a whole body inflammatory disease and it can impact major organs like the kidneys, heart and liver and can be life-threatening. Someone with Blau Syndrome can be fine one day and have a flare up the next, so the disease can cause life-threatening problems very quickly. What's it like as a young person living with Blau Syndrome? If I'm going on a walk with friends or family, I tend to get sore. Riding a bike and gripping the handle bars, my fingers get very sore. When I play tennis, I have to wear wrist tape. Physical activities are what most affects me. Otherwise, it doesn't affect me physically. No one can tell I'm sick by looking at me. How does your disease affect you at school? Before the pandemic, I was leaving school early more than once a week for stomach problems or being sore. I sat out of PE class often. What strategies help you stay positive? Whenever I go to an infusion, instead of focusing on the negative, I find a positive-- I love my nurses, they give me candy, there's a vending machine with great snacks, my mom and I go to lunch after and we go get a treat. I always know there's a plus side to infusions or hospital trips. What have you done with the Cure Blau Syndrome Foundation? We had an auction a couple months ago to raise money for more testing and find a cure. I  hosted a segment of Ask A Researcher which has interviews with doctors or researchers on community questions. It's exciting to be part of the foundation and I've met a lot of fantastic people. What do you hope to do with your life as an adult? I hope I'm cured, spreading awareness, have a good education, a podcast, am an actress and just living life and traveling! LINKS & RESOURCES MENTIONED Cure Blau Syndrome Foundation https://www.curebs.com/ Ask A Researcher on Instagram https://www.instagram.com/p/B7wloz4lUMA/ Donate to Cure Blau Syndrome Foundation https://www.curebs.com/donate-1 Seattle Rare Disease Fair Virtual Conference (2021) http://rarediseasefair.com/?p=164 CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/    
May 20, 2021
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Effisode – Unexpected Moments in the Stairwell

Intro music by Scott Holmes
May 18, 2021
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Rare Disease – The Ultimate Special Teams with Uplifting Athletes with Rob Long

ONCE UPON A GENE - EPISODE 082  Rare Disease - The Ultimate Special Teams with Uplifting Athletes with Rob Long Rob Long is the Executive Director at Uplifting Athletes and is a rare brain cancer survivor. His passion and drive for Uplifting Athletes makes him an inspirational hero and he fights relentlessly everyday so others don't have to face challenges in isolation.  EPISODE HIGHLIGHTS Can you share your story about discovering a rare illness in college? In my senior year at Syracuse University, I was focused on the NFL city I was going to end up in and I was one of the best football players in the country in the draft that year. Through my senior year, I wasn't feeling like myself. I had sensitivity to light, I was ill in the mornings and had headaches almost every day. I disregarded the symptoms until one morning I woke up really sick and saw a doctor. I got an MRI which revealed a large growth in my brain. I saw a specialist the next day and a few hours later was on a plane home to see a neurosurgeon. How did your diagnosis leave you feeling?  I had never felt so alone and isolated, but at the same time, I knew my teammates and the football community were there to support me. There was nothing anything could say to provide comfort. I just wanted a doctor to tell me that I was going to be alright, and no doctor was able to tell me that. No matter how supportive my friends, family and teammates were, my time was finite and it was a challenging experience. Where did you find support? It was a journey. For so long, I tried to escape my reality through football. Despite my diagnosis and treatment protocol, I maintained the idea that I wanted to play football in the NFL and I wasn't going to let cancer determine when I was done playing or living my life. That attitude kept me going and I kept training and kept working out to stay healthy. I wanted to find a way to cure cancer through making it to the NFL and raising a lot of money. It wasn't until later that I discovered I was suffering from PTSD and mental health issues that stemmed from my diagnosis. When I connected with a mental health professional, I found ways to talk through what I experienced and get the help I needed and change my life for the better.  What is Uplifting Athletes? Uplifting Athletes is a nonprofit organization and we work to serve the rare disease community to inspire hope through the power of sport. We developed a program to uniquely impact rare disease research through the Young Investigator Draft program. We draft, support, celebrate and fund the top rare disease researchers across the country to honor the work they're doing and fund rare disease research. Patient advocacy organizations nominate rare disease researchers to be recognized by Uplifting Athletes for the Young Investigator Draft. LINKS & RESOURCES MENTIONED Uplifting Athletes https://www.upliftingathletes.org/ Young Investigator Draft https://www.upliftingathletes.org/young-investigator-draft Seattle Rare Disease Fair Virtual Conference (2021) http://rarediseasefair.com/?p=164 CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/    
May 13, 2021
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Rare Disease Adoption with Josh and Monica Poynter

ONCE UPON A GENE - EPISODE 081 Rare Disease Adoption with Josh and Monica Poynter Josh and Monica Poynter have a son named Tag with severe Hemophilia Type A, a rare genetic disease which makes him vulnerable to prolonged bleeding. Despite this, these rare parents knew they wanted to grow their family. They were unable to have another biological child and welcomed their adopted son Trey into their family. Trey shares the same genetic disease as Tag. He was abandoned at 2 years old and spent 7 years living in an orphanage in China. Trey is now in his forever home with his forever family and Josh and Monica share their heartwarming family and adoption journey story with us.  EPISODE HIGHLIGHTS What type of Hemophilia do Tag and Trey have and how are they affected by it? They both have Hemophilia Type A and are missing the factor VIII clotting protein. If they're not receiving medication to prevent bleeding, they bleed easily and bleed longer. Without a preventative regiment, bleeding can be life threatening.  What empowered you to adopt another child with the same rare disease? Once Tag started a preventative regiment and wasn't bleeding, it became routine and we became more comfortable. At this point, I think it would be more difficult to have a child without Hemophilia.  What obstacles did you face with adoption? We knew our family wasn't done growing. When we started the adoption process, we found Trey, read his story and saw a video of him trying to walk with an active bleed in his knee. He had the biggest smile on his face and we were all-in. There was a sense of urgency that we had to hurry. Our family was behind us to support us and help us fund raise, watching Tag while we traveled and interviewed.  What would you tell other families considering adoption of a rare disease child? You can give a child with a rare disease a completely different life and a different perspective on how to live their life. It is life changing for the child, but even more so for you as a parent. It's a challenge, it's work, it's stressful-- but it's worth it in the reward of blessings you experience. We started with no knowledge. If it's something you're considering, take the first step in faith. Help is available and you’ll get through it, but you have to take the first step. LINKS & RESOURCES MENTIONED Hand in Hand International Adoptions https://www.hihiadopt.org/ Kentucky Hemophilia Foundation https://www.kyhemo.org/ EPISODE 078 - Media with a Mission with Believe Limited CEO Patrick James Lynch https://effieparks.com/podcast/episode-078-media-with-a-mission-with-believe-limited-ceo-patrick-james-lynch CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/    
May 6, 2021
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Effisode – Empathy Puts Some Pep in Your Step

Intro music by Scott Holmes
May 4, 2021
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Rare Disease and Grief – Its Ok That You're Not Ok with Megan Devine

ONCE UPON A GENE - EPISODE 080 Rare Disease and Grief - It’s OK That You’re Not OK with Megan Devine Megan Devine is the author of It's OK That You're Not OK, a psychotherapist, a grief advocate and communication expert dedicated to helping people face their toughest experiences. This book, her story and explanation of grief changed everything for me. After this episode, be sure to get a copy of the book for yourself, join her community and check out her new illustrated journal, How to Carry What Can't Be Fixed. EPISODE HIGHLIGHTS Can you share the background on how your book came about? I've been a psychotherapist for about 18 years working with trauma, but when my partner died in an accident, my perspective on loss changed. I saw that the way we talk about grief in culture is flawed. When my partner died, I closed my practice. I began speaking about grief publicly, training and writing books to do what I could to help grieving people feel more heard and supported. Today, I'm a psychotherapist, author and grief advocate and I talk about the ways we get grief wrong and what to do better for us and for others.  What are the biggest misconceptions about grief? Grief usually belongs to death, but grief is a spectrum and you get to claim grief for yourself. Just because other people may have it worse doesn't mean you can't grieve. You don't have to demote your grief based on other people having more of a right to be grieving. All grief is valid, but that doesn't mean that all grief is the same. If we can be curious about the different ways we grieve, it's a way for us to come together to talk about it and meet each person's loss and grief with curiosity instead of trying to fit it into a one-size-fits-all package.  What do you mean by "some things can't be fixed and they must be carried"? We live in a problem-solution culture. Not everything has a solution and not everything works out for the best. It's not our job as humans to rise above everything. It's not realistic. Tell me about the movement you've created for people to acknowledge their grief. When we tell the truth about grief and let people tell their truth about their own experience, they get to just be in pain. If you think about grieving, you often find that you have to defend your grief and experience. That need to defend your experience causes annoyance and suffering because you're expending energy on defending your right to feel how you feel instead of feeling supported. Refuge In Grief is online, on Instagram, Facebook and Twitter. Refuge In Grief is the grievers community. We have to start normalizing grief and talking about what it's really like and what power there is in healthy grief. There's also a Writing Your Grief course that has awesome writing prompts, but mostly a magical community that forms during the live sessions. We open new sessions about every five weeks. How can we show up for someone who is grieving and support them? Interrupt your impulse to fix. It's human to find it difficult to watch someone you care about in pain and not try to make it better. Recognize your impulse to make it better and think about what you can do that would feel supportive in the moment. Don't assume you know what someone needs, don't jump in with solutions, but instead acknowledge and offer what you can offer and ask if your offering is helpful. LINKS & RESOURCES MENTIONED It's OK That You're Not OK https://www.amazon.com/gp/product/B073XXYKLP/ref=dbs_a_def_rwt_bibl_vppi_i0 How to Carry What Can't Be Fixed https://www.amazon.com/gp/product/1683643704/ref=dbs_a_def_rwt_bibl_vppi_i3 Writing Your Grief https://refugeingrief.com/writing-your-grief/ Speaking Grief Documentary https://speakinggrief.org/ Refuge in Grief https://refugeingrief.com/ Refuge In Grief on Instagram https://www.instagram.com/refugeingrief/ Refuge In Grief on Facebook https://www.facebook.com/refugeingrief Refuge In Grief on Twitter https://twitter.com/refugeingrief
April 29, 2021
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Creating Space for Mental Health for Men Living with Rare Diseases with David Ross

David Ross is a patient advocate, passionate about mental health and creating space for males experiencing mental health struggles. His activism began in 2017 when he was diagnosed with a rare disease called Cowden syndrome. He became dedicated to raising awareness and helping to support others impacted by Cowden syndrome. EPISODE HIGHLIGHTS When were you introduced to the rare disease world? I was diagnosed with my rare disease, Cowden syndrome, about three and a half years ago and it's been a roller coaster journey learning about my condition, managing my health and the impact on my family life How did your diagnosis impact your family life? It started with a letter from my mother that she had been diagnosed with the same condition about a year before she passed away. The letter was for me to provide to my primary doctor with information for getting tested. At the time, I didn't know what to do with the letter and I was too busy living my life and too scared to deal with the possible consequences of the letter because I could see the impact it had on my mother's health. After she passed away, I decided to get tested and was found to have the same condition. The genetics counselor talked me through the process for getting tested and we talked about my daughter also needing to be tested. It was a difficult decision to put her through that at age 11. She was found to not be a carrier of the condition, which was a relief. Then I faced what to do, how my condition would impact me, my wife and daughter.  How did you get started on your mental health and advocacy journey after your diagnosis? I moved quickly because I needed to know more about my condition and connect with other patients. That quickly turned into supporting others. It was too late for my mother, but I wanted to do what I could for others and offer support where I could around their health. I was involved in a clinical trial at Boston Children's Hospital, and the opportunity made me feel like I was making a difference and helped my family connect with other families.  How do you feel like you're making a difference in the rare disease community?  I've looked for opportunities that I can do from home, setting up international Zoom calls for male patients and caregivers because there are a lot of fantastic female advocates, but there don't seem to be as many male advocates, parents or patients talking about rare disease and how it impacts their mental health. It's been good to do that and learn from other guys speaking about their health and speak about what I'm going through.  What support have you found to be helpful along the way? After my mother passed away, I went to a bereavement support group and it was full of older people and mostly women. It felt like there was no connection with the people in the group, but it was a learning curve because I gained a lot talking to people about their losses. It made me feel lucky for my loss compared to others and helped me to look at the positive. There have also been supportive rare disease friends who get what I'm saying and offer knowledge and guidance.  CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/  
April 22, 2021
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Effisode – Adventures in the Grocery Store

Intro music by Scott Holmes
April 20, 2021
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Media with a Mission with Believe Limited CEO Patrick James Lynch

Media with a Mission with Believe Limited CEO Patrick James Lynch Patrick James Lynch has to inject himself with medication every other day because his liver doesn't produce a protein that helps his blood vessels seal when they burst. He and his brother were both born with hemophilia and he's since lost his brother to the disorder. After his loss, he felt compelled to reach others to provide support and awareness about the importance of life-sustaining medicine. Patrick is the founder and CEO of Believe Limited, he hosts camps, produces web series, creates workbooks and workshops, hosts the BloodStream podcast and has produced a film called Bombardier Blood. LINKS AND RESOURCES MENTIONED Believe Limited https://www.believeltd.com/ BloodStream Podcast https://podcasts.apple.com/us/podcast/bloodstream/id1133574474?mt=2 Bombardier Blood https://www.bombardierblood.com/ My Beautiful Stutter https://www.mybeautifulstutter.com/ Stop The Bleeding! https://www.youtube.com/watch?v=UCfGfh6Pax0 The Birth Story: Welcome Vivian Bea‪!‬ https://podcasts.apple.com/us/podcast/the-birth-story-welcome-vivian-bea/id1133574474?i=1000513633326 TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
April 15, 2021
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Top Tips on Advocating For Your Child with Momvocate Kara Karlson

Kara Karlson is a fellow rare disease mama and attorney who is advocating hard in the policy world. She's currently serving on the Governor's Developmental Disability Advisory Council ("DDAC") where she helps set policy and develop programs for the developmentally disabled in Arizona. She is sharing her top tips for becoming your best advocate.  EPISODE HIGHLIGHTS Tell me about your daughter and how you are part of the rare disease community. I got involved with rare disease through my daughter. I had an uneventful pregnancy, everything was fine and she was born a healthy weight. Then she was having trouble eating and that got us started down a long road that eventually led to a diagnosis of mosaicism for multiple marker chromosomes. Originally my daughter was diagnosed with failure to thrive, had postcricoid cushion which was interfering with her feeding, and now she has autism, developmental delays and likely intellectual delays based on a duplicate marker chromosome from portions of 17P and 19. Outside of being a mother, I'm an attorney, so I'm a professional advocate and it's provided me a leg up on getting my daughter the care she needs.  Where do we start advocating? Make sure you have an open line or communication with your providers. Know that they have an ethical obligation to explain things to you in a way that you can understand so that you know what questions to ask and be a strong advocate. If you're being sent home and you're not comfortable, be assertive and communicate that. Get a concrete diagnosis or as concrete as you can. Get specific, qualifying conditions identified so you can qualify your child for programs and services. There are measurements critical to getting care and ensuring therapy is working. Have benchmark measurements to monitor progress. Always obtain medical records so you have insight into the doctor's thoughts and takeaways. From these records, you can take the data and do your own research and you know what documents to include when applying to insurance, providers or state health agencies. What are your thoughts on managing the financial aspects of medically complex kids? There's usually a cash discount of 50% or more or a prompt payment discount, so ask for those options. The providers normally offer payment assistance, so if you're in a position of financial hardship, you can get in touch with a patient advocate at the hospital for assistance. The key is to stay in touch regarding medical expenses and document everything. How do you ask for referrals? If possible, it's best to ask other people you trust. If your child's condition is unique, reach out to other patient groups to see if anyone can refer you. If there's a long waitlist, get on multiple provider lists and seek out other options while you wait. LINKS AND RESOURCES MENTIONED Finding Happy The Podcast‬ - https://www.findinghappythepodcast.com/ Stronger Together - https://strongertogetherevent.com/   CONTACT KARA Momvocate Website - https://momvocate.net/ Momvocate on Twitter - https://twitter.com/momvocate4lyfe Movocate Email - Momvocate4Lyfe@gmail.com Momvocate Blog - https://momvocate4lyfe.blogspot.com/
April 8, 2021
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Effisode – Nacho, Nacho Man

TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website Twitter Instagram Built Ford Tough Facebook Group
April 6, 2021
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AllStripes – Jump Start New Research for Your Rare Disease with Caitlin Nichols

ONCE UPON A GENE - EPISODE 076 AllStripes: Jump Start New Research for Your Rare Disease with Caitlin Nichols Caitlin Nichols is the Scientific Affairs and Research Manager at AllStripes— the first and only research platform dedicated to rare diseases. They make it easy for patients to contribute to new treatment studies from home. They do the work to collect, analyze and de-identify medical records to help power faster and better drug development. They translate medical data into actionable insights to unlock new treatments for rare disease.  LINKS AND RESOURCES MENTIONED Once Upon a Gene TV - YouTube https://www.youtube.com/channel/UCYPzJqCJmStgR32T_5031tQ/featured AllStripes Research https://www.allstripes.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/  
April 1, 2021
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Rare Mom Madeline Cheney – The Rare Life Podcast

Fellow rare mom and podcast host, Madeline Cheney, is joining me for a chat today. Be sure to check out her podcast, The Rare Life Podcast. And don't forget to subscribe! EPISODE HIGHLIGHTS Tell me about yourself and your family. I am a stay at home mom to four-year-old Wendy, who is medically typical. Two year old Kimball has a very rare disorder. My husband and I live in Utah. When I'm not caring for my children, I devote my time to my podcast. Tell me about Kimball's diagnosis. Kimball has a rare genetic mutation called achondroplasia punctata x-linked type 1, which is a type of skeletal dysplasia with only 125 known cases in the world. The condition affects his bones, he's deaf and blind, has dwarfism, his spine is soft, has no nose bone and low muscle tone. What aspect of Kimball's most recent challenges are you grieving? My main source of grief is how much he has to suffer and how unfair it is. It loops me back to when he was first diagnosed. The unfairness of everything breaks my heart as I watch him go through the challenges he faces. It loops me back to the first and subsequent diagnoses and resurfaces some of the same feelings. I love him more and more each day, which makes this more and more painful.  How do you manage your stress and emotional wellbeing? I've learned a lot from other parents and my therapist to feel grief and lean into it rather than suppress it or push it down. I've learned that it's easier to process things in the moment rather than process it later in the future and have to deal with it then. What is the catalyst that makes you the mom that Kimball needs? I'm better able to empathize in ways that I couldn't before and I understand the gravity of not being able to understand other people's experiences. Unlike my pursuit of being strong and trying to always portray that to others, I now know in the depth of my bones how strong I am because of the things I've gone through. That's my main evolution. Now with upcoming challenges with Kimball, even when I feel weak, I know I'll get through it and it's valuable to know that about myself. What do you want to leave listeners with? Competition and comparison makes any journey so much worse. Don't compare yourself or your situation and don't isolate yourself because of it. I encourage you to work on that if you struggle with it. Don't let that be a reason your don't share your story because sharing will help with healing and connecting with other people. LINKS AND RESOURCES MENTIONED Finding Happy The Podcast‬ https://www.findinghappythepodcast.com/ Stronger Together https://strongertogetherevent.com/ The Rare Life Podcast https://therarelifepodcast.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/  
March 25, 2021
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Effisode – An Advocate's Elevator Pitch

Intro music by Scott Holmes
March 23, 2021
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Rare Disease Mom Chat with Mariah Gillaspie – Lightning and Love Foundation

Mariah Gillaspie started the Lightning and Love Foundation for her two daughters, Abby and Emma, who both have the only known mutation of the fact THAP12 gene. EPISODE HIGHLIGHTS Tell us about yourself, your daughters and Lightning and Love. I'm the mom to two ultra rare little girls, 4 year old Emma and 2 year old Emma. They both live with a genetic condition which is technically still un-diagnosed. I launched the Lightning and Love Foundation to further research into the gene and we're finding more and more evidence that the gene is the cause of their disease. They both have daily seizures, don't walk, talk, or have head control and are feeding tube dependent. Why is it important for you to share your story? Before I started the foundation, we were a private family and weren't involved much with social media. I want the world to know my girls for exactly who they are, want to push research and wanted fundraising support which gave me the push. As I started sharing, it opened my eyes to how amazing people are. A rare disease journey can be lonely and isolating, but putting my story out exposed me to a community of support. I want to be that support for others and I want the community to keep coming together to drive research for many other ultra rare diseases.  How have you worked through your grief and how does it still impact you? It's been about coming to terms with what reality looks like, not walking around on eggshells, but knowing that something bad could or will happen. Within our family, we've formed our roles and it's become more routine when things happen and we function better in situations we can't control such as hospital stays. The grief has been hard and has consumed me many times. We have turned to laughter as a coping mechanism, we joke a lot and keep things light. We have an amazing support system between my mom and in-home nursing and other family. I can run away for a mommy day and my husband and I can have date night and maintain our sanity. I accept and live in the know about our unique life and embrace that we have a lot of love in our family.  How do you take care of yourself? I try to take a bath in the evenings with a book and let the sound of the water calm my mind. Taking that time isolated behind a closed door helps me decompress. How do you manage mom life and the foundation? Balancing sometimes becomes the harder part. Jumping into the rare disease community was new and has been a different experience. My background is not in medicine, science, advocacy or fundraising and I'm learning everything from scratch and it's intimidating. It takes a lot of self-discipline and self-talk to feel like I'm able to achieve my goals. CONNECT WITH MARIAH GILLASPIE Lightning And Love on Instagram https://www.instagram.com/lightningandlove/?hl=en Lightning And Love Foundation Website https://www.lightningandlove.org/ Email Mariah mailto:mariah@lightningandlove.org LINKS AND RESOURCES MENTIONED Lightning And Love on Instagram https://www.instagram.com/lightningandlove/?hl=en Lightning And Love Foundation Website https://www.lightningandlove.org/ TESS Research Foundation https://www.tessresearch.org/ EPISODE 057 - SLC13A5 - TESS Research Foundation with Kim Nye https://effieparks.com/podcast/episode-057-slc13a5-tess-research-foundation-kim-nye TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/  
March 18, 2021
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David Solomon – CEO of Pharnext – A Biopharmaceutical Company

Dr. David Solomon is the CEO of Pharnext, an advanced clinical-stage biopharmaceutical company using artificial intelligence to create therapies for rare and orphan diseases. Their first drug for Charcot-Marie-Tooth Disease (CMT1A) is in it's second pivotal Phase 3 trial. CMT1A is a rare genetic disorder of the nervous system with no current satisfactory treatment available. Dr. Solomon is committed to moving Pharnext's work on the CMT1A drug forward to bring solutions to the patients and families affected by the disease. EPISODE HIGHLIGHTS Share some background on your career and Pharnext. I started my career in academia as a faculty member at Columbia University School of Medicine in Neurology Pharmacology and Biological Sciences. I'm now the CEO of Pharnext which excites me because of the strength in data of PXT3003, our lead medicine to treat Charcot-Marie-Tooth Disease, a rare genetic neurological disorder that causes sever impairment. Pharnext was established in 2007 and we're dedicated to getting PXT3003 approved. What innovative approach led to finding a treatment for CMT1A? The insight came from thinking about the genetics of the disease. CMT1A results from a defect and duplication of a gene called PMP22. The insight we had was to down-regulate PMP22 using a novel approach, maybe we could repair the defect and alleviate clinical disabilities experienced. We looked at the genetics of the disease, looking at a range of biochemical pathways that could be tweaked with medicine. PXT3003 is a fixed-dose combination of three medicines: baclofen, naltrexone and sorbitol. Together, these medicines bring unexpected and unanticipated results that help patients.  Explain how artificial intelligence and big data is being used.  We form a disease network around a specific disease. We look at the implicated genes of the disease, all the biochemical pathways affected and use a combination of genetic data and big data to analyze all the pathways and find which medicines in combination can improve outcomes of disease.  What are the strengths and weaknesses in using artificial intelligence for rare disease? AI and big data are predictive tools, but they're only as good as the input into the systems. It's beginning to be a standard tool that can be used as another approach, but it's the novelty of ideas, innovation and determination of scientists and biotech companies that brings results. There's no substitute for great science.  Do you seek out patient registries and natural history studies with an abundance of patients involved and their data documented? We first pick a disease where we think our platform can bring solutions. Then we look at the current therapies and if there are none, that's exciting for us. Finally we look at potential organized patient groups and reach out to them to see if they want to partner with us to provide access to patients or co-investing in early studies.  What are you most excited about for Pharnext? I'm excited that we're launching our study and by launching we're going to get our medicine into patients and closer to an approval. In the future, we're interested to see if our platform can perform for a range of other diseases where there are no other therapies. LINKS AND RESOURCES MENTIONED The Disorder Channel https://www.thedisordercollection.com/ Pharnext https://pharnext.com/en Leave a voicemail https://effieparks.com/speakpipe TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/  
March 11, 2021
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Effisode – The Friendship Circle – Lilly and Ford

Intro music by Scott Holmes
March 9, 2021
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The Importance of Early Intervention with Kindering CEO Lisa Greenwald

ONCE UPON A GENE - EPISODE 072 The Importance of Early Intervention with Kindering CEO Lisa Greenwald Early intervention or birth to three are the vital services kids can receive in the beginning of their diagnosis journey. Dr. Lisa Greenwald is the CEO of Kindering, a licensed language and speech pathologist, holds a PHD in communication science and disorders and an executive certificate in non-profit leadership. She's answering all the questions you may have about early intervention and how to access it. EPISODE HIGHLIGHTS Can you share what Kindering is? Kindering is a non-profit neurodevelopmental center and we offer a variety of programs, including birth to three early intervention which supports infants and toddlers who may have missed developmental milestones or who have a new diagnosis. About 85% of the brain's growth happens in the first three years of life, so early intervention is impactful and can make a big life-long difference. We will also provide a developmental evaluation for any family that has concerns or questions and a doctor's referral is not needed.  How did you get involved with Kindering and what drew you to the field? I started out as a speech therapist working with adults and was interested in communication in general. In the efforts of making a difference early on and focusing on the brain's plasticity at a younger age, I worked my way down to birth to three age. My own child benefited from Kindering services and school special education services. Through his connection with Kindering and how he's benefited has been a key part of why I'm here, the perspective I have and why I want to be there for the kids and families that need us.  What roadblocks do you see in early intervention right now? During the pandemic, people stopped going to well child visits, which is where developmental screening happens in our system of care. Families are challenged to realize they can benefit from services without the developmental screening.  How can people outside of the Seattle area use The Fathers Network and Sibshops as a resource? The Washington State Fathers Network is a network of dads experiencing the journey of raising a child with special needs who can benefit from peer-to-peer networking and support. They have chapters that meet locally for different events and to share resources and information. Emily Holl runs the sibling support program and travels all over the world teaching communities how to offer sibshops. Sibshops specifically supports the siblings of children with disabilities and they're fun, lively workshops to network and have fun. LINKS AND RESOURCES MENTIONED The Rare Disease Truth #rarediseasetruth https://twitter.com/hashtag/RareDiseaseTruth Kindering https://kindering.org/ Kindering tele-evaluation overview https://kindering.org/portfolio-items/developmental-evaluations/ Washington State Fathers Network https://fathersnetwork.org/  Sibshops https://siblingsupport.org/sibshops/ Kindering Virtual Play Pass https://kindering.org/portfolio-items/play-pass/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ Leave a voicemail https://effieparks.com/speakpipe
March 4, 2021
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Accelerating Clinical Research – Harsha Rajasimha, Founder and CEO of Jeeva Informatics

After losing his child to a rare congenital disease in 2012, Harsha Rajasimha applied his years of post-doctoral genomics data research experience at National Institutes of Health to develop a technology platform to accelerate clinical research. As the Founder and CEO of Jeeva Informatics and Founder and Chairman of the international humanitarian nonprofit Indo-US Organization for Rare Diseases (IndoUSrare), he's on a mission to bring fresh perspectives and innovation to get faster cures by engaging patients and participants in clinical research. EPISODE HIGHLIGHTS How did you become involved in the rare disease community? I was a genomics data scientist, going through my day-to-day life at the National Institute of Health at the Cancer Institute and the Eye Institute. By 2010, I had published over 15 articles and was enjoying my job. In 2012 we had a child born with a rare congenital disease, Edward Syndrome and the baby wasn't viable at birth. That opened my eyes to the other side of the coin. Up to this point, research was all on the data side, but I wasn't as empathetic or aware of what happens to the patients and families going through rare genetic disease experiences. That led me to social entrepreneurship and I decided to apply my years of post-doctoral research experience to accelerating clinical research, faster diagnostics and therapies for rare diseases.  How did you know you wanted to do something more meaningful with your experience? It took several months of grieving, soul searching and going over what went wrong. I did basic research about what happens in the rare disease community in the US and learned about NORD and Global Genes. What struck me was that I couldn't find any policy framework, definition of rare disease or organization to advocate for rare disease in India. It became clear that it was an obvious place to start. In February 2013 I visited the Bangalore India Bio Conference and met a number of key stakeholders there to pull together like-minded individuals and form a non-profit which became the Organization for Rare Diseases India. The diagnosis and treatments of rare diseases were happening in India, but there wasn't an organized or national effort happening.  What is the mission of the Organization for Rare Diseases India and how does it connect with bringing the culture of the rare disease community in India to the US? How is Indo-US Organization for Rare Diseases connected to Jeeva Informatics? What's the patient related role of Jeeva through the clinical trial process? How can parents and small advocacy groups engage with you and connect in some way? LINKS AND RESOURCES MENTIONED ONCE UPON A GENE - EFFISODE 015 - Show Your Stripes https://effieparks.com/podcast/effisode-015-show-your-stripes Indo-US Organization for Rare Diseases https://indousrare.org/ Jeeva Informatics https://jeevatrials.com/ Indo-US Organization Patient Alliance https://indousrare.org/program-info Organization for Rare Diseases India https://ordindia.in/ Find Clinical Trials https://clinicaltrials.gov/ Global Genes https://globalgenes.org/ NORD  https://rarediseases.org/ Once Upon A Gene TV on The Disorder Channel https://www.thedisordercollection.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ Leave a voicemail https://effieparks.com/speakpipe
February 25, 2021
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Effisode – Show Your Stripes With Us This Rare Disease Day

Intro by Scott Holmes
February 23, 2021
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Cure VCP With Rare Disease Trailblazer – Nathan Peck

Nathan Peck is a dadvocate living with an adult onset disease. He's also the Founder and CEO of Cure VCP Disease. Through Cure VCP Disease, Nathan and his wife Allison are committed to bringing together patients, caregivers, researchers, pharmaceutical companies and other non-profits to identify treatments and find a cure for Valosin-Containing Protein (VCP) Disease.  EPISODE HIGHLIGHTS Tell us about your family and the rare disease that impacts you. I'm a father of three boys and I'm married to my wife Allison. My mom came from a family of six siblings where here and three others had VCP Disease. About the time I left for college, my mom was having trouble reaching for things and was getting physically weaker. By the time my wife and I married, right after I graduated college, my mom could barely walk. The disease is much like ALS, but over a much longer time.  When did you discover the genetic mutation that was affecting your family? My dad was going through my mom's medical records and we found a letter where she was diagnosed with a valosin containing protein mutation. I was later diagnosed and became interested in it and started learning more.  Tell us about the organization you started. My oldest uncle created a website about what he was learning about himself, which was a resource for people to go to. We knew there were other families affected and I started thinking about data disappearing and succession planning. As an engineer, I've always been about building modular, sustainable processes and that was behind building Cure VCP Disease. There wasn't an organization representing the patients, there wasn't a patient registry and doctor's data wasn't aggregated. I'm not worried about or focused on saving myself- I'm doing the work for the patients for the future and my kids.  Have you connected with other parents living with the rare disease and has that helped you? In the adult onset community, things are different, but we have a lot of common challenges. Everyone is willing to come together and share and you're part of the family. There's no prescription for this and everybody has to create their own path, but listening to others is so important. Putting yourself out there and meeting people can help you and may lead you to someone else who can help.  What is your most valuable resource as a dad? The rare disease community. In getting involved with Global Genes, NORD and EveryLife Foundation, I've met so many awesome people and rare disease advocates which keeps me going.  LINKS AND RESOURCES MENTIONED Rare Disease Day https://www.rarediseaseday.org/ ONCE UPON A GENE - EPISODE 024 - Choosing Hope with Jill Hawkins https://effieparks.com/podcast/008-choosing-hope-with-jill-hawkins Cure VCP Disease https://www.curevcp.org/ Global Genes https://globalgenes.org/ NORD  https://rarediseases.org/ EveryLife Foundation https://everylifefoundation.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ Leave a voicemail https://effieparks.com/speakpipe
February 18, 2021
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Ben's Friends A Rare Disease Social and Support Platform with Ben Munoz

Rare Disease Day is on Sunday, February 28th, 2021 and I'd love to know how you're celebrating and what Rare Disease Day means to you. Share a short voicemail message with me here! Ben Munoz is the President and Co-Founder of Ben's Friends. The organization is dedicated to ensuring that patients with rare disease or chronic illness and their caregivers, family and friends have a safe and supportive place to connect with others. They're a network of patient communities for anyone affected by rare disease or chronic illness and they're growing every day. EPISODE HIGHLIGHTS Tell us about yourself and how you became part of the rare disease community.  My journey into the rare disease space was in 2006. At the time, I was a student in business school when I got a pain in the back of my head and rushed to the emergency room. After an emergency surgery, I learned I had a rare type of stroke at 29 years old. It was called an Arteriovenous Malformation (AVM). I was in ICU for a while after surgery and later was dealing with a lot of panic around the condition and navigation information, treatment, risks and the overwhelm of it all. I had resources online through support groups and mailing lists, which is when I learned of the possibility of connecting with others who had my condition, though it was limited. I began thinking of how to create a website where people could connect with others with similar conditions. I started with a Facebook community of others with AVM. With the success and growth of the group, I went on to creating an additional support group for Trigeminal Neuralgia (TN) which was also successful and then Ataxia. I noticed the trend that people were looking for support and that there were very few support opportunities. From that, the non-profit was founded and we have more than 40 communities to date, each focused on one rare disease.  What compelled you to seek out support so quickly? Has there been a ripple effect that's resulted from being a Ben's Friend's contributor? What is your favorite Ben's Friends story? How do people join Ben's Friends and what if their disease isn't listed on your website? LINKS AND RESOURCES MENTIONED Ben's Friends https://www.bensfriends.org/ Make a Donation to Ben’s Friends https://www.bensfriends.org/paypal-donation/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/ Leave a voicemail https://effieparks.com/speakpipe
February 11, 2021
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Effisode – A Child's Imagination

Intro music by Scott Holmes
February 9, 2021
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Connecting the Dots From Patients to Researchers with Jason Colquitt – CEO of Across Healthcare

Jason Colquitt is the CEO of Across Healthcare and he has 20 years experience in the healthcare technology field where his work has caused a positive disruption within the healthcare industry. He was diagnosed with carnitine palmitoyltransferase type II deficiency (CPT-II), a rare mitochondrial disease. He believes he's been called to use his journey and technical background to help the rare disease community. EPISODE HIGHLIGHTS Can you share your background and a bot about what you do? There's a Walt Whitman quote that talks about a journey and how you never understand that journey until looking backwards and that's what I do a lot-- look back and see how all the paths crossed, what I've been blessed to be able to do and how I can bless others. I've been in healthcare technology for 22 years and have done and seen a lot. Personally, about 18 years ago I realized something wasn't right after several hospitalizations. I had a great primary physician and my diagnostic journey was quick. I was sent to the University of Alabama at Birmingham which has an amazing rare disease group. They did a muscle biopsy and quickly determined that I had a rare mitochondrial disease called CPT-II. This part of my journey gives me the passion for what I do today.  What did you feel seeing another patient with your disease on Diagnosis? I have gone through her same pains, though she had it more severe than I do. Going on a walk and locking up, being crippled and subsequently hospitalized, I could relate on a lot of levels. I had never seen anyone with my disease, so it was interesting and a chance to digest that I do have a rare disease and others do too.  What is Across Healthcare? How does someone sign up for the Matrix? What advancements have you seen in medical technology, data and what can be gathered from digitizing and organizing? What is the cost for a rare disease group to join the platform? Who are your rare disease heroes? LINKS AND RESOURCES MENTIONED The Disorder Channel Website https://www.thedisordercollection.com/ The Disorder Channel Amazon https://www.amazon.com/The-Rare-Outreach-Coalition-Disorder/dp/B088T3PSSH The Disorder Channel Roku https://channelstore.roku.com/details/58305adaac080acdfc952dbeef3c27d8/the-disorder-channel Across Healthcare https://acrosshealthcare.com/ Cystic Fibrosis Foundation https://www.cff.org/ Muscular Dystrophy Association https://www.mda.org/ Diagnosis on Netflix https://www.netflix.com/title/80201543 TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
February 4, 2021
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Hippotherapy and Adaptive Riding with Little Bit Therapeutic Riding Center

I have asked Ford's therapists, Kelsie McGladrey and Christina Reyer to join me to discuss what therapies we should be doing with our kids and to talk in depth about hippotherapy- physical, occupational and speech therapy that utilizes the natural gait and movement of a horse to provide motor and sensory input. The benefits of hippotherapy include the physical benefits of strengthening muscles, preventing bone weakness and joint dislocation, improving balance and enhancing hand-eye coordination. EPISODE HIGHLIGHTS Is there a rider that is too medically complex for hippotherapy or are there adaptations that can be made? Every kid and adult is evaluated for the program, looking at the needs and the type of therapy. We look at each case for precautions to find out whether hippotherapy is the best and safest option for reaching goals. Our goal is to find a therapy that works for each body and what's medically appropriate.  What is the ideal age for someone to start hippotherapy? For hippotherapy, you have to be at least two years old.  What changes have you seen in Ford from when he started riding a year ago? When we met Ford, he was a little over three years old and his legs were so tight that we could barely get him on a horse. It was hard for him to be on the horse and he wasn't able to sit up himself on or off the horse. Within the first few sessions, his legs relaxed so much and he needed less and less help. Because he was able to engage his core, relax his legs and relax his hips and sit up, we were able to start playing games and working on hand control and interaction. His confidence and his endurance has grown so much too.  How is the gait of the horse beneficial in hippotherapy? The muscles we use is one part, but also the message the brain gets about what normal movement is when the horse is moving in three dimensions- forward and backward, side to side and rotating. The pelvis of the horse, rotated down has a similar movement to the gait we do when we're walking. A horse walks 1800-2000 steps in a 30 minute session, which is a ton of repetition that a person has to react to in a short amount of time.  How can the community support Little Bit? We have a giving tree online of how people can donate or help. We always appreciate the support. We are volunteer-supported and need volunteers for horse care, barn care, in sessions, office support and cleaning.  LINKS AND RESOURCES MENTIONED The Disorder Channel Website https://www.thedisordercollection.com/ The Disorder Channel Amazon https://www.amazon.com/The-Rare-Outreach-Coalition-Disorder/dp/B088T3PSSH The Disorder Channel Roku https://channelstore.roku.com/details/58305adaac080acdfc952dbeef3c27d8/the-disorder-channel CONNECT WITH LITTLE BIT  Little Bit Therapeutic Riding Center https://www.littlebit.org/ Little Bit Volunteer Opportunities https://www.littlebit.org/volunteer Donate to Little Bit  https://www.littlebit.org/donate Little Bit Therapeutic Riding Center on Facebook https://www.facebook.com/LittleBitTherapeuticRidingCenter/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
January 28, 2021
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Effisode – Growth and Smash Cakes

Intro music by Scott Holmes
January 26, 2021
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Rare Mama – Nikki McIntosh – Navigating Life with Rare

Nikki McIntosh has been featured on The Disorder Channel in Life & Atrophy, a film about the day-to-day of raising a child with Spinal Muscular Atrophy and as a guest of Once Upon a Gene TV. She hosts a community called Rare Mamas where she shares tips, tools and inspiration for moms raising a child with a rare disease. EPISODE HIGHLIGHTS How did you enter the world of rare? My husband and I have two sons, Mason and Miles. Miles has a rare degenerative neuromuscular disease called Spinal Muscular Atrophy (SMA). We were a typical family- young parents when we had our first son who was healthy. When we had our second son, we felt something wasn't quite right and that he wasn't reaching the same milestones. We started down the path of seeking answers and Miles was diagnosed after about six months at 18 months old.  What was it like finding out that you and your husband were carriers for SMA? I was so naive before entering the world of rare disease. I didn't know so many rare diseases existed. To learn that we were carriers and to know something was lying in our genes unbeknownst to us was shocking. There was a level of guilt and we wrestled around with those feelings a lot in the beginning. It was a tough time trying to understand and accept and to determine how to move forward in a new way of life.  Did you isolate yourself from friends and family or suffer from depression? I felt so weak and sad in the beginning that I didn't want to step outside my home. Once we got the answers we were looking for and got a diagnosis, I didn't want to talk to anyone about it. I went through a time of not understanding the disease, I didn't want to answer questions people may ask and I didn't have the answers to those questions. We went inward and closed off everyone except the doctors and healthcare team.  What changed for you to choose hope over despair? What resources helped you along the way and what inspired Rare Mamas? What is your mantra? LINKS AND RESOURCES MENTIONED The Disorder Channel Website https://www.thedisordercollection.com/ The Disorder Channel Amazon https://www.amazon.com/The-Rare-Outreach-Coalition-Disorder/dp/B088T3PSSH The Disorder Channel Roku https://channelstore.roku.com/details/58305adaac080acdfc952dbeef3c27d8/the-disorder-channel Disorder Rare Disease Films Youtube https://www.youtube.com/channel/UCYPzJqCJmStgR32T_5031tQ Episode 065 - Beginner’s Guide to Rare Disease- Anecdotes for Those Early Days of Diagnosis - Daniel DeFabio https://effieparks.com/podcast/episode-065-beginners-guide-to-rare-disease-daniel-defabio CONNECT WITH NIKKI MCINTOSH Rare Mamas Website https://raremamas.com/ Rare Mamas Facebook https://www.facebook.com/RareMamas1/ Rare Mamas Instagram https://www.instagram.com/Rare_Mamas/ Rare Mamas Blog https://raremamas.com/category/start-here/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
January 21, 2021
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Beginners Guide to Rare Disease – Anecdotes For Those Early Days of Diagnosis with Daniel DeFabio

Daniel DeFabio and I are having a parent-to-parent discussion and bringing you guidance if you are a newly diagnosed family. We'll give you insight into our journeys, things that helped us along the way and ways we learned to cope and find hope. If you're a beginner and new in the club no one wants to be in, start here- this episode is for you. EPISODE HIGHLIGHTS On diagnosis day, what are the important things to notice and what life lines should be sought out right away? Realize that no matter how bad the diagnosis is, you're going to live it and live through it and there's no way of escaping it. The only way out is through. It helps to find other people and seek community once you have a diagnosis and they will have experience and advice to help you. Did you feel like you needed to seek out other families and dads? Rather quickly, I put Lucas' story out there in the world to find others. There was a Yahoo group for menkes families that is now a Facebook group. I turned to this group like a life raft for a source of hope, comfort and information. As soon as I found the population facing the same disease as my son, I knew there would be answers, but those answers weren't predictive. Don't stop looking until you find the answers you're looking for. The bond and support you will receive from others with a similar experience is like you may not find elsewhere. What opened your eyes to not comparing, letting go of expectations and forging ahead? It was clear to me that there was no choice. You take care of your kid, even when you're dealt a life-altering and unexpected thing. It required a different approach, but it was still a parent approach of providing what my child needed. The stages of grief apply to diagnosis, not just death. You let go of the fictional character of your child you thought you were going to have. You need to go through the stages, so read about them, prepare for what will happen and know they won't happen once or in order.  If you are new to the club and have questions, we're happy to help guide you and share resources to help you. LINKS AND RESOURCES MENTIONED The Disorder Channel Website https://www.thedisordercollection.com/ The Disorder Channel Amazon https://www.amazon.com/The-Rare-Outreach-Coalition-Disorder/dp/B088T3PSSH The Disorder Channel Roku https://channelstore.roku.com/details/58305adaac080acdfc952dbeef3c27d8/the-disorder-channel Disorder Rare Disease Films Youtube https://www.youtube.com/channel/UCYPzJqCJmStgR32T_5031tQ Menkes' Families Facebook Group https://www.facebook.com/groups/180082535351472/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
January 14, 2021
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Effisode – Never Underestimate the Determination of Your Child

Intro music by Scott Holmes
January 12, 2021
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Seth Rotberg Founder of Our Odyssey and His Mental Health Surrounding a Huntington’s Disease Diagnosis

Our Odyssey is an organization that supports young adults living with rare disease and chronic illness. The founder of Our Odyssey, Seth Rotberg, is passionately driven by his mother's battle with a rare genetic disease called Huntington's Disease (HD). At the age of 20, he also tested positive for the disease. He dedicates his life to helping others on their rare disease journey and chronic illness. EPISODE HIGHLIGHTS What is your connection to the rare disease world? My story started at age 15 when my mom was diagnosed with Huntington's Disease (HD), a rare neurological disease that slowly deteriorates a person's physical and cognitive abilities for which there's no cure. I was fortunate to have a good support system at the time, but no one understood what it meant to be a young adult with a family member impacted by a rare disease. I didn't realize initially that I could also be a carrier of the disease and later found out in college that I was at risk. It impacted me mentally wondering if I had it and I finally got tested so I could plan for my future. I went through genetic testing and tested positive for Huntington's Disease which means I'm not technically diagnosed or currently living with the disease, I'm a gene carrier. Knowing what Huntington's Disease did to my mom, I'm preparing for that happening one day. How fast did your mom's disease progress and were you at all involved in her daily care? When you got your test results back that you were in fact a carrier for Huntington's Disease, what were your next steps? Did you feel freedom when you shared your test results with friends and family? How did you arrive to the point of starting Our Odyssey? What's your most profound accomplishment? LINKS AND RESOURCES MENTIONED EPISODE 048 - What is Chronically Surviving with Marcelle Longlade https://effieparks.com/podcast/episode-48-chronically-surviving EPISODE 036 - Anna Laurent on Alagille Syndrome and Her Road to Advocacy https://effieparks.com/podcast/episode-36-anna-laurent-alagille-syndrome Our Odyssey https://ourodyssey.org/ TEDx Navigating Genetic Disease Testing: A Personal Story https://www.ted.com/talks/seth_rotberg_navigating_genetic_disease_testing_a_personal_story TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
January 7, 2021
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The Life of an Angel Diagnosed with Blau Syndrome with Cheryl-Lynn Townsin

Cheryl-Lynn Townsin is the mom to Lexi and Felix and the Director of the film, Me, My Sister and Blau. I fell in love with this family when I saw their film and their story has really stuck with me. Cheryl is joining me to share memories of Lexi and the grief that remains from their loss. Lexi's older brother Felix is changing the world and he's incredible. This family fights every day to continue Lexi's legacy of love and they're determined to find a cure for those affected by Blau Syndrome. EPISODE HIGHLIGHTS Can you share a bit about Lexi and her diagnosis? Lexi was born in December 2012. She had a few health concerns when she was born and was in NICU for awhile. After two weeks, she was as strong and amazing as ever. When Lexi was about 6 months old when she got pneumonia and was hospitalized. She pulled through it, but then started getting rashes. We went to an immunologist, but we weren't able to identify a food or environmental sensitivity. Just before her first birthday, Lexi was seen by a rheumatologist and we were told that she had Juvenile Idiopathic Arthritis. Six months later we saw a dermatologist, she ran tests and we got a Blau Syndrome diagnosis one month later.  Did you seek out a Blau Syndrome community or was it a process? When we thought Lexi had Juvenile Idiopathic Arthritis, we thought that was a small community, but we moved on from that to another level of isolation when Lexi was diagnosed with Blau Syndrome. I found a community support group and connected with them.   What was the prognosis of Blau Syndrome that you were given? What ultimately happened to Lexi when she passed? Can you share with us what Felix is doing to raise awareness for Blau Syndrome? What is the status of the Blau Syndrome research to date? LINKS AND RESOURCES MENTIONED The Disorder Channel https://www.thedisordercollection.com/ The Boy With a Thorn in His Joints https://www.nytimes.com/2013/02/03/magazine/the-boy-with-a-thorn-in-his-joints.html Global Genes https://globalgenes.org/ Cure Blau Syndrome Foundation https://www.curebs.com/ Me, My Sister and Blau https://www.rarediseasefilmfestival.com/work#/me-my-sister-and-blau/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
December 31, 2020
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Effisode – The Magic of Christmas

Music provided by Scott Holmes
December 29, 2020
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Cookies4Cures with Dana Perella

Dana Perella has raised almost $200,000 to help fund research for rare pediatric diseases through Cookies4Cures.  EPISODE HIGHLIGHTS Tell me where you're from and how old you are. I live in Boulder, Colorado and I'm 10 years old.  What is Cookies4Cures and why did you start it? Cookies4Cures is my nonprofit that raises money to fund research in rare pediatric disease. It started with my friend Mila that I met in speech therapy. When I was 7, I found out she was diagnosed with a rare, fatal disease called Batten. I needed to help her, so I started Cookies4Mila to help find a cure for her form of Batten. I sold cookies to raise $1000 in three months, then I went viral and had $56,000 by the end of the year.  Were you already a baker? I first had the idea of having a lemonade stand, but didn't want to be limited to only selling in the summer. I love cookies, everyone loves cookies, you can eat them anytime, but I had never baked anything before. It was a new experience for me and was really fun.  Tell me what the money you've raised so far has done. I've raised over $140,000 for five different rare pediatric diseases. I've raised money for Batten, PANS (pediatric acute-onset neuropsychiatric syndrome), SMA (spinal muscular atrophy), HAE (hereditary angioedema) and MCTO (multicentric carpotarsal osteolysis). What have you learned about yourself that you're proud of? I've discovered I can make a difference. Not only adults can change the world- kids can too.  What's your favorite Cookies4Cures moment? The moment I knew I had funded a treatment for Mila's Batten. That felt amazing because I helped my friend have a longer life.  What's next for you? It's been hard to do cookie pop-ups because of covid, but Sophie's family owns a restaurant and we've been selling cookies from the restaurant. I'm looking forward to dressing up as an elf for the holidays and delivering cookies around Boulder. LINKS AND RESOURCES MENTIONED Global Genes https://globalgenes.org/ Travere https://travere.com/ HAEA https://www.haea.org/ Baking with Dana: Raspberry Thumbprint Cookies https://youtu.be/V_j-iVKiC7c  CONNECT WITH COOKIES4CURES Cookies4Cures https://www.cookies4cures.com/ Email Cookies4Cures  info@cookies4cures.com Cookies4Cures on Facebook https://www.facebook.com/Cookies4Cures Cookies4Cures on Instagram https://www.instagram.com/cookies4cures_kids/ Cookies4Cures on Twitter https://twitter.com/cookies4cures TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
December 24, 2020
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The Glass Child – Being a Sibling to My Rare Disease Sisters with Madison McLaughlin

As a young girl, Madison McLaughlin made her way to LA to pursue acting and she's held roles in Chicago PD, Supernatural and Arrow. But she's also a rare disease super hero and celebrity in our community- the rare disease community. Madison's three younger sisters have been diagnosed with hypomyelination with brainstem and spinal cord involvement and leg spasticity (HBSL).  EPISODE HIGHLIGHTS Can you share a bit about your sisters? I'm the oldest of four girls. Marissa is 18, Mallory is 16 and Mahrynn is 14. Marissa and Mahrynn have an ultra-rare disease that affects less than 25 people in the world called HBSL. Mallory is also a carrier of this disease. Mallory has never had any symptoms and is typically developing. Marissa and Mahrynn use mobility assistance such as walkers and wheelchairs, but they're not affected cognitively. When considering yourself a caregiver, how does it affect you in realizing that as your role? What have people done for you to make you feel special? When did you start therapy individually and as a family? What boundaries have you set for yourself? Are you a part of groups with siblings like you and is there a common thread among siblings? LINKS AND RESOURCES MENTIONED Once Upon a Gene Channel with The Disorder Channel https://www.thedisordercollection.com/ Once Upon a Gene with The Disorder Channel on YouTube https://www.youtube.com/watch?v=68ZUSyqdeZo&t=4s Nikki McIntosh, Rare Mamas https://raremamas.com/ MacPac Foundation https://www.macpacfoundation.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
December 17, 2020
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Effisode – Family Dinner

Music provided by Scott Holmes
December 15, 2020
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Pediatric Occupational Therapy with OT4Lyfe – Sarah Putt

Sarah Putt is the host of the OT4Lyfe Podcast, where she interviews thought leaders in the occupational therapy community. Sarah is discussing early intervention and answering questions about her profession and how it benefits families like ours. EPISODE HIGHLIGHTS Tell me about why you started your podcast, OT4Lyfe. Occupational therapy is my life and OT is the "why" of life or "lyfe". My show is all about occupational therapy and I bring on occupational therapy practitioners, students and other people affiliated with the practice area to discuss anything and everything occupational therapy. I love podcasting to talk about occupational therapy, but also promoting and advocating for the profession because a lot of people don't know what we do. What does occupational therapy entail? It's a broad field and occupational therapists can work in different practices areas with different focuses. Occupation is defined as how you occupy your time, so anything you do in a day such as self care or leisure activities. We are the experts on occupation, studying what the meaning and purpose of occupation is in people's lives. We have a very broad lens of who we work with and the type of work we do. Someone coming to us generally has a diagnosis, disability, injury or age-related difficulties that interfere with activities. I work in early intervention with kids from birth to three years old and focus on hitting developmental milestones and the family dynamic of parent education, including sensory integration, sleep, feeding, fine and gross motor skills.  What should a parent do if they don't think a therapist is the best fit? What questions do parents and caregivers need ask in order to maximize their child's care plan?  If parents and caregivers can't follow through with OT homework, how does that affect the overall therapy goals? What advice do you have for parents who are new to occupational therapy? LINKS AND RESOURCES MENTIONED Once Upon a Gene Channel with The Disorder Channel https://www.thedisordercollection.com/ Nikki McIntosh, Rare Mamas https://raremamas.com/ OT 4 Lyfe Episode 81: Pediatric Therapy From the Parent’s Perspective with Effie Parks https://ot4lyfe.com/81/ CONNECT WITH SARAH  OT 4 Lyfe Podcast https://ot4lyfe.com/ OT 4 Lyfe on Instagram https://www.instagram.com/ot.4.lyfe/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
December 10, 2020
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Palliative Care & the Courageous Parent Network with Founder Blyth Lord

The Once Upon a Gene Merch Shop is open for pre-orders through December 6th. Check out the new products added to the shop before it’s too late! Blyth Lord is the Founder of the nonprofit, Courageous Parents Network, an educational platform that orients, empowers and accompanies families caring for children with a serious illness. The mission and goals of Courageous Parents Network originated from Blyth's experience of parenting her daughter diagnosed with Tay-Sachs at 6 months old. EPISODE HIGHLIGHTS Can you share your background and tell us about your family? My husband and I have three daughters. Our second daughter Cameron would be 22 now, but she died in 2001 at the age of two from a rare genetic condition, Tay-Sachs. She was diagnosed at 6 months old. She was diagnosed much earlier than what is typical because her cousin Hayden was diagnosed with Tay-Sachs when he was 18 months old. Because my husband is an identical twin with Hayden's father, I assumed he was also a carrier and that my daughter could also have Tay-Sachs. Upon testing, I was also a confirmed carrier and Cameron was diagnosed. Cameron's diagnosis with this rare, fatal disease continues to be a big part of our family story. My two surviving daughters and Hayden's two sisters understand that their siblings are a core part of our family.  What part have Cameron and Hayden played in your family moving forward? I focus on promoting the value of palliative care. There was no hope for treatment or therapy when Cameron and Hayden were diagnosed and the only care plan we had was a palliative care plan. It was devastating that there was nothing we could do to prolong their lives through experimental treatment or trials, but when palliative care is your only plan there's a lot of acceptance, peace and resolution. We had 18 months to come to terms with the prognosis and determine what we wanted for Cameron. From early on, we had to accept what was coming, but it meant that afterwards it was easier to focus on Cameron and Hayden's legacy and the meaning of their short, beautiful lives.  Can you explain what palliative care is? Hospice is end of life care, the tail end of palliative care. Palliative care focuses on quality of life for anyone living with a life-threatening condition. From the point of diagnosis on, palliative care is an appropriate addition to a care plan, delivered concurrently with curative treatments that treat, manage and potentially cure the condition. Palliative care is an extra layer of support which helps patients and caregivers make treatment decisions with quality of life in mind. Did you seek out palliative care for your daughter? What are the support services offered through Courageous Parents Network? LINKS AND RESOURCES MENTIONED Once Upon a Gene Channel with The Disorder Channel https://www.thedisordercollection.com/ Once Upon a Gene Merch Shop https://effieparks.com/merchshop Courageous Parents Network https://courageousparentsnetwork.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
December 3, 2020
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Effisode – Caregiver Personal Trainer Wanted

Intro music by Scott Holmes
December 1, 2020
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Turkey Soup for the Soul

The Once Upon a Gene Merch Shop is open for pre-orders through December 6th. Check out the new products added to the shop before it’s too late! Based on the Chicken Soup for the Soul books, filled with feel-good stories that lift your spirit, Tyra Skibington and I present this special feature just in time for Thanksgiving-- Turkey Soup for the Soul. Grab the tissues and enjoy these heartwarming, uplifting stories of friendship, inclusion, community, perseverance and kindness. Respite Rescue We had a trip to Italy planned for our 20th wedding anniversary and all of the respite set up in plenty of time beforehand. Just a week before leaving, we were told our respite had to be cancelled. We were about to resign ourselves to cancelling our trip of a lifetime, as we had never asked friends to help us out this way. When one of our longest friends' husband, who had been recently laid off, hopped on his motorcycle and headed out to our place to watch Ben while we were away. He had never watched Ben for us. We were so overwhelmed and we were so grateful. And then our business partners who had also never cared for Ben stepped in and offered to keep him for one week as well. This was a huge deal for someone who has never dealt with a special needs child despite the fact that he was having a lot of seizures at the time. I remember sitting on a patio in Venice sipping on prosecco with tears in our eyes just thinking about how our friends stepped up in the most amazing way for us. It might not sound like much, but it is a big deal to have friends like that. It's just amazing.  Silver Linings of 2020 There is so much to be thankful for, but there are two significant things that quickly come to mind. In a bit of a bizarre way, I'm grateful for the opportunity to slow down and reset. Although the global pandemic of 2020 has caused more harm than good, more loss than gain and more pain than joy, it has also caused me to take stock of what is important to me. In a sense, it has helped me identify the difference between things that are distracting and things that are meaningful. I'm also grateful for a career in a field that is considered essential that has taken precautions to protect the health of individuals while also keeping me employed. I'm thankful that, while many things have been stressful, I have not had to worry about my income, allowing me to help others in my community.  A Poem for Jared These tears that I hide inside, I hide for you.  The smiles that I smile, I smile for you.  The walls that confine you try to beat you down.  But that isn't your style,  And that makes me proud.  From the beginning, you've been joy.  The years haven't changed you a bit, my boy.  You have a wonder in your eyes, the world in your heart.  Nothing can stop you.  {continue reading on our website} LINKS AND RESOURCES MENTIONED Once Upon a Gene Channel with The Disorder Channel https://www.thedisordercollection.com/ Once Upon a Gene Merch Shop https://effieparks.com/merchshop Mind Over Mat https://www.mindovermat.ca/ EPISODE 040 - Physical and Emotional Well-Being for the Caregiver with Tyra Skibington https://effieparks.com/podcast/episode-40-tyra-skibington Two Disabled Dudes Podcast https://twodisableddudes.com/ Rare Disease Dad - DadVocate https://rarediseasedad.com/
November 26, 2020
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Effisode – Out with the Ick

Intro music by Scott Holmes
November 17, 2020
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Effisode – Friendship, Inclusion, and Tough Conversations

Intro music by Scott Holmes
November 3, 2020
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Living With Chronic Pain – International Pain Foundation President Barby Ingle

ONCE UPON A GENE - EPISODE 053 Living with Chronic Pain - International Pain Foundation President Barby Ingle Barby Ingle is a fierce advocate, the President of the International Pain Foundation, a chronic pain educator and advocate, motivational speaker, Amazon best-selling author and reality tv personality. She's received more than 20 accolades for her work in the chronic pain community. EPISODE HIGHLIGHTS Where did your journey begin? When I was coaching, I was living all of my dreams. I got endometriosis, went through the treatment process and had a full hysterectomy. Just before my 30th birthday, I was hit by a van and injured, started physical therapy and discovered I had a rare disease triggered by the accident- a rare neuro-autoimmune disease called reflex sympathetic dystrophy (RSD). At first it was regional, but several surgeries complicated the condition and I was in a wheelchair for almost seven years.  Was there ever a point in your diagnosis journey where you lost hope? Even at the lowest, there was hope. The worst moment was when I had a rib removed. The surgeon made a mistake, leaving two bone spurs going into my right lung and wrapped around a nerve bundle in my shoulder. I started having lung collapses, which was disregarded as something that sometimes happens. I didn't know he was wrong and to push further. I experienced a lung collapse that led to an emergency surgery and my dad was there giving me support and hope. What organization did your family help to launch that you're a part of now? Every year, my dad had us do a family project and we would decide at Thanksgiving what it was going to be. Sometimes it would be Christmas caroling at retirement homes or serving food to the homeless. In 2006, we lost my step-sister to the same condition I have, so when Thanksgiving came around my dad led us to start a non-profit. At that time, I was wheelchair bound, bed bound and wasn't able to do much with it, but I was the face of the campaign, The Power of Pain. After the first year, the board decided we needed to broaden the scope to work with all chronic pain diseases. In 2010 I joined the executive board and in 2012 I was elected the President of the foundation. We have expanded internationally to 14 countries with the help of people leading projects to make their communities better. What are you most excited about right now that's happening with the International Pain Foundation? November, or "Nerve-mber" is a big month for us with spotlights on conditions, sources of facts and information and the International Pain Summit, which will be held virtually this year. I'll be speaking at the summit this year with my husband on empowerment for patients and caregivers with tips and tools for everyday life. LINKS AND RESOURCES MENTIONED Teal Pumpkin project https://www.foodallergy.org/our-initiatives/awareness-campaigns/living-teal/teal-pumpkin-project International Pain Foundation https://internationalpain.org/ Register for the International Pain Summit 2020 https://internationalpain.org/ipain-summit-2020/ iPain Living Magazine https://internationalpain.org/ipain-living-magazine/ Books by Barby http://barbyingle.com/books/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
October 22, 2020
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Effisode – Making Friends and Talking About Differences

Music provided by Scott Holmes
October 20, 2020
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Effisode – Merch, Napa Center, and Beach Adventures

Into music by Scott Holmes
October 6, 2020
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Reflecting on 50 Episodes with Effie and Casey

ONCE UPON A GENE - EPISODE 050 Reflecting on 50 Episodes with Effie and Casey It's the 50th episode of the Once Upon a Gene podcast and Casey and Effie reflect on their journey, past guests, experiences and the stories that have touched them. EPISODE HIGHLIGHTS How do you think things are going? I am so proud of you. It has been so fun watching this start from something you talked about passionately, that you had no training in, that you had no real connections in, but that you wanted to do and you willed it into existence. It has been amazing to watch your dedication, the community and network that you've built. Have you had any favorite guests or stories from past episodes? I have had a bunch of favorites. Dan DeFabio and Bo Bigelow are tremendous, genuine and so good to listen to. Every once in a while there will be someone that says they're doing what they're doing in part because they heard the Once Upon a Gene podcast and that hammers home to me how much of an impact you're making. There have been a lot of wonderful people, stories that cracked me up and stories that were heartwarming and touching.  Has the podcast changed you? I tend to be more internal in handling stress, but it has changed things for me. Left to my own devices, I'm going to put my head down, take care of Ford and focus on our journey. Getting to see the way you've dealt with this and the pathways you've opened up, that has opened doorways to me as well. Now I feel comfortable dealing with and taking on more than just our journey and helping others with their journeys. Watching you do it so meaningfully has normalized it for me and allowed me to do it in a comfortable way. The podcast has also changed me in that I have a happy, fulfilled partner and that means everything. LINKS AND RESOURCES MENTIONED Me, My Sister and Blau https://www.rarediseasefilmfestival.com/work#/me-my-sister-and-blau/ The Disorder Channel https://www.thedisordercollection.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
October 1, 2020
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Thanatophoric Skeletal Dysplasia with Ashequka Lacey

Thanatophoric Skeletal Dysplasia with Ashequka Lacey Ashequka Lacey is a fierce mama bear to Jakobi who was born with thanatophoric skeletal dysplasia which results from a mutation in the FGFR3 gene. Thanatophoric dwarfism is a severe skeletal disorder, but Jakobi has as much strength and determination in his little body as his mom.  EPISODE HIGHLIGHTS Tell me about Jakobi. > Jakobi is 18 months old and was born with a rare form of dwarfism called thanatophoric skeletal dysplasia. The gene mutation resulted in short limbs, a small rib cage and small lungs, so he is ventilator dependent. At 20 weeks pregnant, I found out there were abnormalities when I went for a gender scan. Another ultrasound was done to take measurements and although they weren't sure about what type of dwarfism Jakobi had, the doctor let me know that it was lethal and they advised I terminate the pregnancy.  What happened after he was born? Did Jakobi's birth bring a force out in you? What happened when you got to bring Jakobi home? How has Jakobi impacted Ameir's development? How has Jakobi changed you? Can you tell us about your book? What do you want people to know about your family? LINKS AND RESOURCES MENTIONED Jakobi Bays IG https://www.instagram.com/babybays19 Jakobi and Me Book jakobiandmebook.com Jakobi's GoFundMe https://www.gofundme.com/f/jakobis-need Jakobi's Amazon Wishlist https://www.amazon.com/hz/wishlist/ls/A5HHKM6B3E2Z?ref TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
September 24, 2020
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Fake It Til You Make It – Public Speaking, Road Trips and Intensive Therapy

Intro music provided by Scott Holmes
September 22, 2020
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What is Chronically Surviving with Marcelle Longlade

What is Chronically Surviving with Marcelle Longlade Marcelle Longlade is living with multiple rare diseases. Her platform, Chronically Surviving connects community, offers accessible yoga and other healing practices and services.  EPISODE HIGHLIGHTS Can you tell me how you became involved with Our Odyssey? Had you been part of an advocacy or support group prior? Can you tell us about the rare diseases you're living with? What affects you the most daily? Tell me about the shift from your biomedical engineer job.  When you started yoga, did you know right away that you wanted to tailor your practice to the rare disease and disability community? What are you most excited about for the future? LINKS AND RESOURCES MENTIONED EPISODE 036 - Anna Laurent on Alagille Syndrome and Her Road to Advocacy https://effieparks.com/podcast/episode-36-anna-laurent-alagille-syndrome One Rare https://onerare.org/ Our Odyssey https://ourodyssey.org/ Chronically Surviving https://www.chronicallysurviving.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
September 17, 2020
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Ciitizen – Take Control of Your Own Medical Records and Advance Research with Nasha Fitter

Ciitizen - Take Control of Your Own Medical Records and Advance Research with Nasha Fitter Nasha Fitter is the mother of three daughters, one of which was diagnosed with a rare disease called FOXG1. After her daughter's diagnosis, she got to work and co-founded the FOXG1 Research Foundation. She's dedicated to leading the research strategy and finding a cure for every child in the world with FOXG1 syndrome. She's here to talk to us about her work as the Director of the Rare and Neurological Disease Division for Ciitizen, a technology company that enables fast and seamless access to patient data. In this episode, you'll learn about the most innovative medical record platform that will be open and accessible to parents, caregivers, clinicians, academics, bio pharma and researchers. Their goal is to eliminate the slow, manual and expensive processes that are currently used to collect data.  EPISODE HIGHLIGHTS Tell us about you, your family and how you came to be a part of the rare disease community.  Tell us about Ciitizen and your role there. How do you get started if you want to have medical records digitized? Can doctors, geneticists and scientists access the platform and perform their own search? If all these medical records are in this database, how do we protect our privacy? How can parents and caregivers help move this platform forward? What is a natural history study? What final thoughts do you have for parents and caregivers? LINKS AND RESOURCES MENTIONED FOXG1 Research Foundation https://www.foxg1research.org/  Ciitizen https://www.ciitizen.com/ EPISODE 041 - Time is Brain: SYNGAP Research Fund with Mike Graglia https://effieparks.com/podcast/episode-41-syngap-research-fund The Patient Record Scorecard https://www.ciitizen.com/scorecard/ EPISODE 043 - David Fajgenbaum - Chasing My Cure - A Doctor's Race to Turn Hope into Action https://effieparks.com/podcast/episode-43-david-fajgenbaum CONTACT NASHA FITTER nasha@ciitizen.com nasha@foxg1research.org TUNE INTO THE ONCE UPON A GENE PODCAST Spotify https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7 Apple Podcasts https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347 Stitcher https://www.stitcher.com/podcast/once-upon-a-gene Overcast https://overcast.fm/itunes1485249347/once-upon-a-gene CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
September 10, 2020
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A Family Plagued with Rare Genetic Disease, Adrenoleukodystrophy with Diane Kane

A Family Plagued with Rare Genetic Disease, Adrenoleukodystrophy with Diane Kane If you haven’t listened to Episode 38, Rare Like Us with Taylor Kane, go back and listen to that episode here. Taylor Kane's mom, Diane Kane, had two toddlers when her husband was suddenly diagnosed with a rare disorder called Adrenoleukodystrophy (ALD). I'm in awe of her strength, grit and grace as a caregiver to her husband John, all while being a new mom, working and preparing for all the ways ALD would disrupt her family and change it forever.  EPISODE HIGHLIGHTS What is ALD and what are the symptoms? What happened after the Adrenoleukodystrophy (ALD) diagnosis? How were you able to manage and cope with the diagnosis and life at that time? What wisdom can you share with other caregivers? LINKS AND RESOURCES MENTIONED EPISODE 038 - Rare Like Us with Taylor Kane https://effieparks.com/podcast/episode-38-rare-like-us-with-taylor-kane Rare Like Us https://www.amazon.com/Rare-Like-Us-Finding-Plagued/dp/1543978819 A RARE Patient Advocacy (un)Summit https://globalgenes.org/event/live/ Global Genes https://globalgenes.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
September 3, 2020
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Two Disabled Dudes – Kyle Bryant and Sean Baumstark

Two Disabled Dudes - Kyle Bryant and Sean Baumstark When I became a part of the rare disease community after Ford was born, I didn't feel like I had any community at all. After Ford was born, I felt less connected to my friends and I sought out a new community through podcasts because hearing stories made me feel connected. Sean Baumstark and Kyle Bryant, the hosts of Two Disabled Dudes podcast, both have Friedreich’s ataxia (FA). They have been an impactful resource in my journey and I'm so excited they're joining me. EPISODE HIGHLIGHTS Can you tell us how you became friends and connected as podcasters? What is FA? Can you share the background of The Ataxian? Sean, tell us about your organization, Determinence. Kyle, tell us about your book, Shifting Into High Gear. LINKS AND RESOURCES MENTIONED The World’s Toughest Bike Race - Race Across America (RAAM) https://www.raceacrossamerica.org/ Two Disabled Dudes podcast https://twodisableddudes.com/ The Ataxian http://theataxianmovie.com/ Determinence https://determinence.com/ Shifting Into High Gear https://kyleabryant.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
August 27, 2020
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Rare Together, Watch Together – Film Selections from The Disorder Channel in Partnership with Global Genes

Rare Together Watch Together - Film Selections from The Disorder Channel in Partnership with Global Genes Dan DeFabio and Bo Bigelow founded The Rare Disease Film Festival and have just created The Disorder Channel, accessible through Amazon Fire and Roku. Their work is connecting patients and families, raising awareness and inspiring a lot of conversations. Global Genes is having a virtual 10 day summit, September 15th - 25th, 2020. On September 16th, 17th and 18th, they're holding a watch party with Dan and Bo. This event is free for patients and advocates, so check it out! EPISODE HIGHLIGHTS Dan, how long did you think about creating The Rare Disease Film Festival and why did you want Bo to be a part of it? Bo, what did you think you could add to The Rare Disease Film Festival? Tell me about the first festival you had. Bo, how did you feel after the first festival weekend concluded? Due to the most recent event in New York City being cancelled, where did the idea to pivot into a tv channel come from? How does someone create a film? Tell us about the event with Global Genes that's coming up in a few weeks.  LINKS AND RESOURCES MENTIONED The Rare Disease Film Festival https://www.rarediseasefilmfestival.com/ The Disorder Channel https://www.thedisordercollection.com/ Global Genes https://globalgenes.org/ A RARE Patient Advocacy (un)Summit https://globalgenes.org/event/live/ ONCE UPON A GENE - EPISODE 015 - Films and Fatherhood https://bit.ly/34xmJfH ONCE UPON A GENE - EPISODE 028 - Rare Disease Trailblazer and Co-Founder of Disorder - The Rare Disease Film Festival https://bit.ly/2YzhAQy How To Make Your Own Rare Disease Film https://www.rarediseasefilmfestival.com/blog/2020/3/2/how-to-make-your-own-rare-disease-film TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
August 26, 2020
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A Mother's Crusade to Find a Cure for Her Son – Amber Freed, Founder and CEO, SLC6A1 Connect

A Mother’s Crusade to Find a Cure for Her Son - Amber Freed Amber Freed is the mother of twins, Maxwell and Riley. At a year old, Maxwell was diagnosed with a disease too rare to have a formal name, referred to as SLC6A1. When Amber was told nothing could be done, she decided to fight. She left her career that day and shifted her focus towards a treatment. She's a leader in the rare disease community and is the founder of SLC6A1 Connect. EPISODE HIGHLIGHTS Give us a little background on the beginning of your journey as an advocate? Tell us about your kids coming into the world and becoming a mom. What started you on a mission to get answers about Maxwell's development? What were the results of the genetic test? Calling a scientist in Denmark was the beginning of your crusade. What has happened since then? How much money have you raised so far? What advice do you have for the listeners? LINKS AND RESOURCES MENTIONED SLC6A1 Connect https://slc6a1connect.org/ Donate https://slc6a1connect.org/donate-here/ Contact Amber afreed@SLC6A1Connect.org TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
August 20, 2020
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David Fajgenbaum – Chasing My Cure – A Doctor's Race to Turn Hope into Action

David Fajgenbaum - Chasing My Cure - A Doctor's Race to Turn Hope into Action David Fajgenbaum, MD, MBA, MSc, is a groundbreaking physician-scientist, disease hunter, speaker, and author of the national bestselling memoir, Chasing My Cure: A Doctor's Race to Turn Hope Into Action.  EPISODE HIGHLIGHTS Can you tell us about your diagnosis of idiopathic multicentric castleman disease (IMCD)? What were your symptoms and how quickly were you hospitalized? How did you eventually get a diagnosis? What incentives need to be in place to encourage researchers and doctors to explore drug repurposing? At what moment did you realize you had found a potential solution for you? You created a first-of-its-kind program in memory of your mom for young people grieving the loss of a parent. Can you tell us more about that? What can you share with people who are impacted by a rare disease that don't have a lot of patients, money or organization? LINKS AND RESOURCES MENTIONED Chasing My Cure https://chasingmycure.com/ Actively Moving Forward https://healgrief.org/actively-moving-forward/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
August 13, 2020
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Effisode 001

August 11, 2020
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WSU ROAR – Responsibility, Opportunities, Advocacy and Respect with Lisa Henniger

WSU ROAR - Responsibility, Opportunities, Advocacy and Respect with Lisa Henniger Lisa Henniger is joining me to talk about Washington State University's ROAR program, which supports higher education for the disabled and neurodiverse. Lisa's son Evan, who has down syndrome, has always wanted to go to WSU and follow in the footsteps of his entire family. Evan was among the WSU ROAR program's first cohort in 2018 which has been a dream-come-true.  EPISODE HIGHLIGHTS Can you tell us about your background and how you got involved in ROAR? How does tuition work? Are there scholarship and grant options? Was Evan one of the first students in the ROAR program? What is the daily program like? How much has this experience changed Evan? Will Evan get a proper graduation? Were the teachers who are involved with driving this program special education teachers before? What are your words of wisdom for parents and caregivers when planning for their child's educational future? LINKS AND RESOURCES MENTIONED WSU ROAR Website https://education.wsu.edu/undergradprograms/wsuroar/ WSU ROAR Program on Facebook https://www.facebook.com/WSUROAR/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
August 6, 2020
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Time is Brain – SynGap Research Fund with Mike Graglia

Time is Brain: SYNGAP Research Fund with Mike Graglia Bo Bigelow and Daniel DeFabio have started a TV channel called The Disorder Channel where you can see all their rare stories in one place. You can access the channel with a Roku or Amazon Fire TV Stick. I had the honor and opportunity to narrate one of these films, The Foundations of Rare: The SYNGAP Research Fund and that’s how I connected with my next guest. Mike Graglia is a dad on a mission. His son is one of around 600 patients born with SYNGAP1, a rare neurological disease. Like many other rare disorders, like CTNNB1, SYNGAP1 affects the production of a protein. It's considered a spectrum disorder because all patients aren't affected the same way or to the same severity. After attending a Global Genes conference, Mike and his wife Ashley were inspired to turn hope into action and they founded the SYNGAP Research Fund. Their sole mission is funding research science for SYNGAP1.  EPISODE HIGHLIGHTS Can you tell us about Tony's rare disease and how it affects him? When did you get Tony's diagnosis? When did you and Ashley decide to take action and do something when no one else was? Can you tell me about your mission of collaboration, transparency and urgency? What would you tell a parent who is motivated and inspired to do something like what you're doing? LINKS AND RESOURCES MENTIONED SYNGAP Research Fund Website https://syngapresearchfund.org/ SYNGAP Research Fund Blog https://syngapresearchfund.org/syngapblog SRF - SynGAP Research Fund, Inc. YouTube https://www.youtube.com/channel/UCtnPWPpqouMA_1UGOyu4W6A/ Global Genes https://globalgenes.org/ Contact Mike Graglia  mike@syngapresearchfund.org The Disorder Channel https://www.thedisordercollection.com/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
July 30, 2020
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Physical and Emotional Well-Being for the Caregiver with Tyra Skibington

Physical and Emotional Well-Being for the Caregiver with Tyra Skibington Tyra Skibington lives in Kelowna, British Columbia with her family and she's the Founder of Mind Over Mat, a yoga and fitness studio. She's a superwoman in the world of emotional and physical well being and the mother to a beautiful girl named Darby. At 5 months old, Darby was diagnosed with a rare disease called Pallister Killian syndrome (PKS), a rare mental disorder that affects about 500 people in the world.   EPISODE HIGHLIGHTS Can you tell us about Darby and how her disease affects her? When was Darby diagnosed with PKS? How did you move forward into the world of self care, a fitness company and planning retreats? Tell me about Mind Over Mat LINKS AND RESOURCES MENTIONED EPISODE 029 - Put Your Own Oxygen Mask on First https://effieparks.com/podcast/008-tanjs-akayy-jr78y-ja2e8-zanza-njkxy-83esr-z2wkz-kx2a4-3zgjf-9n7e6-f4dl9-34pey-khhl4-plbpy-y5jw6-w4tay-9d7t9-4rf34-3ct68 Mind Over Mat  https://www.mindovermat.ca/ Family Support Institute https://familysupportbc.com/ Mind Over Mat - Facebook https://facebook.com/mindovermatkelowna Mind Over Mat - Instagram https://www.instagram.com/tyraskibington/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
July 23, 2020
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Next Steps – A Journey Through CRPS to an Above the Knee Amputee with Whitney Lavender

Next Steps: A Journey Through CRPS to an Above-the-Knee Amputee with Whitney Lavender Whitney Lavender lives in Texas with her husband and two sons. I discovered her through her advocacy on Complex Regional Pain Syndrome (CRPS). She was taking a walk one day and had an accident that changed her life forever. The accident even led to the discovery of another rare disease she was unknowingly dealing with. Whitney has lived with excruciating pain for years, has been in the hospital alone during Covid and had her leg amputated while isolated from her family. Whitney is an awesome advocate and she's been so brave to share her story along the way.  EPISODE HIGHLIGHTS How did you enter the world of rare? After you were diagnosed and the treatment plan wasn't working, what was your mental state? When did you find the doctor that knew how to help you and what was that like? Did the two doctors formulate a plan to amputate your leg? After your leg was amputated, what has happened with your pain from before to now? How will EDS continue to affect you? It’s not too late to register for the NORD 2020 Living Rare, Living Stronger Patient and Family Forum streaming July 18th-19th. There's a range of amazing speakers including doctors, patients, caregivers and researchers. There's also a live performance from the cast of Hamilton, so don't miss it! Register here.  LINKS AND RESOURCES MENTIONED NORD Living Rare, Living Stronger 2020 Registration https://rarediseases.org/living-rare-forum/ Whitney Lavender on YouTube - Whitscomplex https://www.youtube.com/channel/UCx6jr3lC4yvzjANASsKON1A TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
July 16, 2020
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Rare Like Us with Taylor Kane

ANNOUNCEMENTS Don't forget to register for the NORD 2020 Living Rare, Living Stronger Patient and Family Forum streaming July 18th-19th. I'll be on the parent panel on the 19th talking about stress reduction and caregiver well being. Register here.  Head over to podcastawards.com and nominate Once Upon a Gene for The People's Choice Award under the Society-Culture category. Disorder: The Rare Disease Film Festival was supposed to be held in May and was cancelled due to COVID. These films are important in connecting families and researchers across the world. Bo Bigelow and Daniel DeFabio, the founders of the film festival, launched The Disorder Channel. It's available for free on Roku and Amazon Fire.  I discovered the passionate and driven Taylor Kane through the book she wrote called Rare Like Us, a memoir about her loving father dying from a rare disorder called Adrenoleukodystrophy (ALD). It's an incredible story and captures the insurmountable obstacles families in the rare disease community face. She is also the founder of Remember The Girls, an international nonprofit organization that unites, educates and empowers female carriers of x-linked genetic disorders. She's recently been nominated for an award in the category of patient leader hero. You can endorse her nomination here.  EPISODE HIGHLIGHTS When did you decide to write Rare Like Us? Can you tell us about your dad's diagnosis? What does it mean to be a carrier of ALD? A big part of your organization is creating community and having strength in numbers. What are some other goals you have for the organization? What are you most proud of with Remember The Girls? What can people do to help your cause? LINKS AND RESOURCES MENTIONED NORD Living Rare, Living Stronger 2020 Registration https://rarediseases.org/living-rare-forum/ Rare Like Us https://www.amazon.com/Rare-Like-Us-Finding-Plagued/dp/1543978819 15th Annual Podcast Awards https://www.podcastawards.com/ The Disorder Channel https://www.thedisordercollection.com/ Disorder: The Rare Disease Film Festival https://www.rarediseasefilmfestival.com/ WEGO Health Award Nomination https://www.wegohealth.com/Taylor3/awards Remember The Girls PayPal Giving Fund https://www.paypal.com/us/fundraiser/charity/2806211 CONNECT WITH TAYLOR KANE Remember The Girls https://www.rememberthegirls.org/ Blog  https://www.rememberthegirls.org/blog Facebook https://www.facebook.com/remembergirls/ Instagram https://www.instagram.com/rememberthegirls/ Twitter https://twitter.com/remember_girls TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
July 9, 2020
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Founder of LakiKid – Sensory Tools for Home and Classroom with Jason Hsieh

Founder of LakiKid: Sensory Tools for Home and Classroom with Jason Hsieh NORD, the National Organization for Rare Diseases invited me to be a speaker at the 2020 Living Rare, Living Stronger Patient and Family Forum on a breakout panel for caregivers. I'm going to be talking about stress reduction and emotional well being as a caregiver and I'd love for you to join virtually July 18th-19th, 2020.  Today I'm talking to Jason Hsieh, a local father whose son was diagnosed with autism and ADHD. There were limited resources and therapy opportunities in Japan at the time of the diagnosis, so his family moved to Seattle to get the help they needed for their son. He struggled to find affordable, quality products to help with his son's sleep, anxiety and sensory challenges so he created his own brand instead. LakiKid is a product design company and also a community of families helping each other through patient support groups and live Facebook seminars.  EPISODE HIGHLIGHTS How did your story begin in Japan? Did you feel isolated and feel a need to connect with others in your community? Can you tell us about your podcast and videocast? Can you tell us about your company LakiKid? Did you have issues around the school setting that you had to figure out for your son or which inspired any specific piece of your advocacy for making schools more inclusive? What advice do you have for parents in the beginning of their journey? LINKS AND RESOURCES MENTIONED NORD Living Rare, Living Stronger 2020 Registration https://rarediseases.org/living-rare-forum/ LakiKid https://lakikid.com/ Autism Parent Support Group https://lakikid.com/pages/autism-parent-support-group Sensory Fitness Live with Matt Sloan https://lakikid.com/pages/sensory-fitness-live Ask An Autism Mom https://lakikid.com/pages/ask-an-autism-mom LakiKid FREE Printable Social Story https://lakikid.com/pages/parents-survival-guide-to-coronavirus-covid-19#ebook KultureCity https://www.kulturecity.org/ Once Upon a Gene - Ep 019 - Neena Nizar and the Jansen's Foundation https://effieparks.com/podcast/008-tanjs-akayy-jr78y-ja2e8-zanza-njkxy-83esr-z2wkz-kx2a4-3zgjf TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
July 2, 2020
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Anna Laurent on Alagille Syndrome and Her Road to Advocacy

Anna Laurent on Alagille Syndrome and Her Road to Advocacy My guest today has a rare genetic disorder called Alagille Syndrome, which she was diagnosed with at 6 months old with no prognosis. Anna Laurent is a vivacious 20 year old living her best life. She's the Head of Programs & Initiatives at Our Odyssey where she helps to empower young adults impacted by chronic and rare diseases. If you know a young person with a chronic or rare disease, tell them to check out Our Odyssey.  EPISODE HIGHLIGHTS Can you share some of the excitement you've had in your life over the last 6 months? Tell us your story and about the diagnosis you were given as a child. What was it like growing up with a rare disease? What led you to become an advocate and to help other young people? What has been one of your most moving experiences so far? Do you have any advice for parents? LINKS AND RESOURCES MENTIONED Our Odyssey https://ourodyssey.org/ Alagille Syndrome Alliance  https://alagille.org/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
June 25, 2020
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Sage Graves – Estate Planning, Guardianship, Special Needs Trusts

Sage Graves - Estate Planning, Guardianship, Special Needs Trusts Today we're talking about a really important topic- planning for our kid's future. Sage Graves is an attorney local to the Seattle area, here to share information about wills, estate planning, special needs trusts, guardianship and ABLE accounts.   EPISODE HIGHLIGHTS Share your background and why you've chosen this type of law to practice. Let's cover the basics. What do we need to do? What do we need to think about? When should we do it? Why should we do it? What's the difference between the documents we should get finished for our kids? Can you tell us about ABLE accounts and how they differ from special needs trusts? What opportunities do kids have for setting up college funds? What is the general cost for setting up a will and special needs trust? LINKS AND RESOURCES MENTIONED Sage Graves https://www.hickmanmenashe.com/sage-graves/ Contact Sage https://www.hickmanmenashe.com/contact-sage/ TUNE INTO THE ONCE UPON A GENE PODCAST Spotify Apple Podcasts Stitcher Overcast CONNECT WITH EFFIE PARKS Website https://effieparks.com/ Twitter https://twitter.com/OnceUponAGene Instagram https://www.instagram.com/onceuponagene.podcast/?hl=en Built Ford Tough Facebook Group https://www.facebook.com/groups/1877643259173346/
June 18, 2020