Once Upon A Gene

A collection of voicemails from rare disease parents who relate to you situation.

ONCE UPON A GENE - EPISODE 239 Navigating Physical and Emotional Stress and Noticing Where It Shows Up In Our Body As A Rare Disease Caregiver - With Christy Foster Joining me today is my sister, Christy Foster. We're talking about caregiver stress, stress-related pain, how and why it shows up, and how to cope. EPISODE HIGHLIGHTS How does chronic stress affect us physically? The muscle tissue is our body represents our emotional holding and our bone structure represents our thinking mind. Muscle tissue holds us up and helps us move and stay flexible. When there's stress or trauma, pain can happen and without attention, the body will become significant. When we're in pain, it's difficult to care for kids, sleep, and go to work. Things compound and things start spinning, leading to a flight or fight response. It's important to be able to recognize when that pattern shows up and what to do about it before it consumes you, so that you're affected physically less often. What techniques can help with jaw tension and pain? The jaw holds our teeth, moves up and down to chew, and somatically, the joint of the jaw represents flexibility and adaptability. When joints become rigid, there's a pattern of resistance to change and emotional inflexibility. Keeping your mouth shut when you're experiencing strong emotions, like anger, can cause jaw pain because of bearing down and swallowing, creating tension in the muscles and joint over time. Expressing to the degree that you can is healing because the emotion comes up and out.  As a long-term caregiver, how do you build resiliency? Connection will help support your nervous system and will help you to better regulate. It's important to have connection with someone who isn't going to fix you, who will be there when you need to release and vent, that you can talk to about your emotions around grief, rage, sadness or shame, because it takes the edge off and it softens the hit. How do we take notice of our pain and tension and take action? We all have access to nature, whether it's a plant in your home or a backyard area. At least once a day, notice nature— the color, sound, feeling. This helps to get in the visceral sense of feeling versus surviving and being in the mind and thinking. Connect with your people to create a sense of safety and understanding. When our systems feel safe, they can relax. Get rest and, if needed, get the help you need to make time for rest. Any type of meditation or breath work that are mind-body geared are helpful, even if uncomfortable, because feeling the feeling helps to move that energy out of you. Exercise in any way possible to get you into your body, which will help you come out of your mind and the emotional looping that can happen. Self-care is essential, even in little pieces of time. Put your hand on your heart and connect to the feeling of love, compassion and gratitude. Research shows this act of mindfulness and experiencing gratitude helps the body settle into a more regulated state.  LINKS & RESOURCES MENTIONED ONCE UPON A GENE - 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 My Intuitive Body Website https://christyfoster.co/ Christy Foster on Instagram https://www.instagram.com/christy.f13/ Sinéad Quinn https://www.instagram.com/sineadquinnofficial/ Rare Breathing Room https://www.facebook.com/p/Annie-Lambert-True-You-with-Neora-100070644768526/?_rdr 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 - EPISODE 233 Are You Worried About Your Baby's Development - Enroll in Project FIND-OUT - You May Qualify for Free Whole Genome Sequencing LINKS AND RESOURCES MENTIONED Project Findout https://projectfindout.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/

Connect with Kara, host of The Special Needs Mom Podcast: Instagram: https://www.instagram.com/thespecialneedsmompodcast/ Website: https://www.kararyska.com/ Coaching Opportunities Pathway to Peace {Group Coaching Program}: Schedule a Consult or Contact Me Join The Special Needs Mom Podcast Community FaceBook Group!! Click here to Request to Join

ONCE UPON A GENE - EPISODE 225 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/

ONCE UPON A GENE - EPISODE 221 BeginNGS - Newborn Genomic Sequencing to End the Diagnostic Odyssey with Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay I'm joined by Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay to discuss BeginNGS, a ground-breaking initiative that stands at the forefront of genetic sequencing and rare disease diagnosis.  EPISODE HIGHLIGHTS What led to the creation of BeginNGS? Rare genetic diseases are an immense health ecosystem challenge- receiving a timely diagnosis. On average, it takes 4.8 years to diagnose a child with a genetic disease, and meanwhile, symptoms continue to worsen and the disease progresses. The goal of BeginNGS is to prevent or reduce the impact on children with rare genetic diseases, minimizing suffering, cost and delay of diagnosis.  Why is BeginNGS an important initiative to support? Anyone connected to the rare disease community shares the same vision for a world where every rare disease patient receives the right effective treatment at the right time. That starts with changing the diagnostic odyssey and ensuring early, fast diagnosis. What is the mission of the BeginNGS Consortium? The BeginNGS Consortium is a partnership of pharmaceutical and biotech companies, sharing a vision of the right effective treatment at the right time. Our vision is ultimately to ensure every baby born in the United States has the opportunity to be screened for rare disorders. What differentiates this program and the consortium is that the patient communities have been represented from the beginning and the patient population communities has been impressive. Some of our working groups are led by members of the patient community to make sure that what's delivered is valuable to the patients.  What are the major pain points to leveraging newborn screening for preventable disorders and broad use of rapid diagnostic genome sequencing? Pediatricians rarely order genome sequencing. We estimate only 2% of children who need the testing get it. Additionally, even when testing is ordered, it doesn't always translate into optimal treatments and there can still be delays in life-saving treatments.  What does the future look like for BeginNGS? The BeginNGS Consortium is comprised of rare disease advocacy organizations, parent support groups, healthcare systems, policy makers, experts in academic medicine, biotech companies developing new genome sequencing methods and pharmaceutical companies developing new treatments for rare genetic diseases. We hope to increase the size of the consortium so we can grow the organization and capture every voice and represent every genetic disease. Another strong aspiration is to raise grant support and funding to complete and deploy our pivotal clinical trial.  LINKS AND RESOURCES MENTIONED BeginNGS https://radygenomics.org/begin-ngs-newborn-sequencing/ Alexion https://alexion.com/ ONCE UPON A GENE - EPISODE 213 - Finding Strength In Every Step https://effieparks.com/podcast/episode-213-finding-strength-in-every-step Frontiers 2024 Conference https://radygenomics.org/frontiers-conference/ 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 - EPISODE 220 A Rare Collection - From Financial Strain to Supportive Gain - A Call For Action 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 Katie Scheid The beginning of my care-giving journey was filled with trauma, disbelief and a complete re-shaping of the life I knew. My daughter Millie is three and a half years old and I am her full-time, unpaid caregiver. She suffered a severe stroke just before she was born, resulting in complete care for the rest of her life. She is blind, can't sit or hold her head up, can't speak or control her body's movements. She's tube-fed and has over 50 seizures each day. In Washington, kids like Millie, whose needs qualify for in-home care, can have any person be their hired care-giver, except a parent. Millie was assessed and allocated for 185 hours per month of paid, in-home care-giving to alleviate the burden on us as her primary care-givers. After 6 months, we didn't receive a single applicant. I quit my job to be her care-giver and we've struggled to live on one income since. Parents Empowering Parents of Washington (PEPWA) is a group of over 550 advocate members working to change the laws in Washington. We are leading the fight to access the service our kids qualify for and we demand better for ourselves and our kids. Lindsey Topping-Schuetz On January 10th, I testified before the Washington State House Committee on Human Services, Youth and Early Learning in favor of HB2184. This legislation would authorize payment of parental care-givers of minor children with developmental disabilities. January 10th is a significant day for my family. Seven years ago, my husband and I would leave the hospital for the first time with our son, Owen. He spent 103 days in the NICU. We walked down the hallway lined with staff and family, everyone clapping and cheering. Owen came home dependent on oxygen and a feeding tube. He would have dozens of episodes a day that left him struggling to breathe. At three years old, Owen was granted hours to pay someone other than my husband or I to care for him. It's nearly impossible to utilize these hours because there's a shortage of nurses and they're not provided with the medical training required to care for my son. Care-giving a child like Owen goes well beyond parenting. The financial hardship has burdened our entire extended family. HB2184 has the ability to change the lives of families like mine. It is time for Washington to acknowledge the work of parent care-givers in the same way as all other care-givers. Emily Holloway I'm the mom of four children and I live in Virginia. Our daughter Chloe was diagnosed with a rare disease of her lymphatic system. While her life was seemingly normal for the first eight years, we drove head first into the medical world when she began showing signs of the disease. Working full time wasn't realistic, so I left my teaching career and our family income was cut in half. Chloe receives g-tube feedings and several medications, she needs assistance bathing and walking, she attends weekly therapy sessions and she requires a lot of care. I was given the opportunity to become her paid care-giver and I was thrilled to be home caring for Chloe, contributing to our finances, an opportunity that ended when the pandemic and medical lockdown concluded. Medicaid believes care-takers now need to head back to work and hire care-takers for their children. Additionally, there's a maximum amount of care hours a child can receive, regardless of their needs. The best interest of children is missing from these regulations. We hope our legislators will allow the parents who know their children best, love them the most and are the biggest advocates for their well-being, to remain their care-takers and receive a small reimbursement to help pay living expenses. 

ONCE UPON A GENE - EPISODE 201 A Rare Collection - Five Advocacy Aces Share Their Conference Commandments EPISODE HIGHLIGHTS Melissa Hioco, STXBP1 DO: Offer a family hospitality room where parents can see the broadcast and stay involved in the conference. Provide sibling spaces and make them feel special.  Spend the extra money to provide a buffet dinner and a kid's buffet with kid-friendly food. Ask for discounts on everything. Find a local AV company who will work within your budget. Create sponsorship tiers and ask for sponsorship. Provided one-on-one genetic counseling to families at no cost. Provide social opportunities for families to connect with researchers.  Utilize an event center with a hotel for accessibility.  Research if a city or state has incentives available when holding events there. DON’T: Offer childcare because it's a liability. Provide a plated dinner because it's logistically complex. Accept the initial quote you're provided without trying to negotiate costs. Use the hotel's AV company because the cost will be higher. Trish Flanagan, HNRNPH2 DO: Invite not just impacted families to your event, but also the researchers carrying out studies about your rare disease.  Poll your community about event location, dates that work best, and discussion topics.  Provide speakers with plenty of notice when inviting them to a conference.  Make sure your event space adequately supports the patient and families' needs. Be transparent about the cost, inclusions and exclusions of the event.  DON’T: Don't leave the research team to organize and schedule patient assessments without your input.  Don't overlook having an interpreter and special equipment that may be needed. Amy Fenton Parker, BDSRA  DO: If your budget allows, utilize a professional conference planning team. Include a family reunion reception or party so families can reconnect. Schedule separate break-out sessions for moms, dads, siblings, and other caregivers. Use a technology provider who will make suggestions for the best outcomes and to make your conference dynamic. Explore pre-recorded sessions and livestreams. Offer a breakfast buffet so guests start their day off right. Provide trained professionals for childcare and make parents aware of the offering. Take advantage of area professionals who can offer services at the conference. Create a planning committee to brainstorm ideas and help on the day of the event. Utilize your board to assist with speakers Kara Kilroy, JdVS DO: Make space for families to connect and share.  Manage volunteers well, meeting with them in advance to communicate plans and coordination. Spend money on AV to ensure you have the right set-up in-person and also capture recordings and/or livestreams. Sit with families and take everything in, enjoying the moment and appreciating all your hard work.  Have a planning committee. DON’T: Don't expect perfection and be ready to roll with changes and pivot. If you provide childcare, ensure you have options for different age groups and different needs so parents get the most out of their attendance.  Ashley Point, KdVS DO: Recruit volunteers. Find a host family in the local area to accept shipments, recommend local services and companies and connect you with volunteers. Work with an event site company who understands your needs and who can negotiate costs on your behalf.  Fundraise, fundraise, fundraise. Ask, ask, ask. Set a budget early, but stay flexible. Set a rough agenda based on what's important to your community. Be sure to allow for time for families to gather together and add breaks during the event.  LINKS AND RESOURCES MENTIONED STXBP1 HNRNPH2 BDSRA JdVS KdVS ONCE UPON A GENE - EPISODE 200 - Fundraising Strategies for Patient Advocacy Organizations Raising Money for Rare Disease Research with Lindsay Stevens

ONCE UPON A GENE - EPISODE 215 Beyond the Crossroads- Rebuilding and Reclaiming Identity After Sacrificing Careers for Caregiving with Emily Crawford Emily Crawford left her lifelong dream job of being a teacher to surrender to the demands of care-giving. She joins me to discuss identity loss and metamorphosis after becoming a parent to a medically complex child.  EPISODE HIGHLIGHTS Can you tell us about your family? I have four children— Chloe is my middle child. The first eight years of Chloe's life was seemingly normal and she hit all the expected milestones. At eight years old she started presenting unique symptoms and she was eventually diagnosed with a rare, life-threatening illness of her lymphatic system, called central conducting lymphatic anomaly (CCLA).  How has Chloe's diagnosis affected your career and how did the shift affect your sense of personal identity? I wanted to be a teacher my whole life. Right before Chloe was diagnosed, I was at the pinnacle of my career, being recognized as teacher of the year, presenting at teaching conferences and I loved living my passion. Immersed very quickly and suddenly into the medical parenting world, I had to give up my career teaching. It's a personal struggle not to be teaching and the shift has been difficult. The shift was dark and isolating and I felt like I didn't have anything to contribute to the conversations with teacher friends. I wasn't connected to anyone else around me and I also experienced jealousy in my marriage because my partner was still able to work.  How have you adapted to your new role? The biggest part of my journey has been to take part in mental health therapy, which has been really helpful for me. I get to the gym every day and I am part of the OUAG walk group. I look for pockets of time where I can do things for myself, like walking the parking lot when my daughter is in therapy sessions. I have leaned into my network of friends who have put in the time to learn about what I'm going through and I make time to have dinner or to see a movie with them. My children are my #1 priority, but I am Emily and I stay connected to myself the best I can.  Can you share about your recognition as a CPN Parent Champion? I found CPN when I was researching pediatric palliative care and I knew my teaching skills would lend well to the Parent Champion opportunity. That role has led me to my people. We're all doing big things, parenting, doing the hard stuff and we can relate well to each other.  LINKS AND RESOURCES MENTIONED Walking Club Facebook Group https://www.facebook.com/onceuponagene.podcast/ Courageous Parents Network https://courageousparentsnetwork.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/

ONCE UPON A GENE - EPISODE 212 Special pop up episode from our friends Daniel DeFabio and Bo Bigelow from the Disorder Channel - Pain Points https://www.rarediseasefilmfestival.com/ www.thedisordercollection.com https://www.facebook.com/rarediseasefilmfestival https://www.instagram.com/disorderrarediseasefilms/ https://www.linkedin.com/company/disorder-the-rare-disease-film-festival/ DISORDER: The Rare Disease Film Festival

ONCE UPON A GENE - EPISODE 209 A Leap of Faith - Rare Disease Moms on the Bittersweet Joy of New Babies I'm joined by two new, rare moms, Emily and Katie, to discuss the topic of having additional children after you've had a child with a rare disease.  EPISODE HIGHLIGHTS How did your experience with your first born children's genetic conditions shake your hopes and fears about having a second child?  Once you connect with the rare disease world and learn about all of the rare disease possibilities, you know rare isn't so rare. The second pregnancy is different because you're aware of the chance that something can happen more than once and your eyes are open to the potential outcomes. Does having the knowledge the second time take away from the joy? It definitely does. We had genetic testing done on our second child and it was terrifying until we got results. Throughout the entire pregnancy, I didn't feel safe.  Did you wish you had a typical experience and did you feel bad for feeling that way? You expect challenges to happen again, and it's a self-preservation mentality, not wanting to set yourself up to be disappointed. I do feel guilty about wanting a typical parenting experience, but that's what everyone wants. That's not to say that you don't love and appreciate your parenting experience with your child who has disabilities. We don't want to see our children suffer and we don't want to suffer as parents.  What is your best advice for families thinking about having another child? It's important for parents to acknowledge all of their feelings and the complexities of their feelings. It's complicated, so reach out to other people you know who have been through it. Talking to others will help to solidify your decision to continue growing your family, despite how terrifying it might feel.   CONNECT WITH KATIE A Very Rare Adventure https://averyrareadventure.com/ Instagram https://www.instagram.com/averyrareadventure CONNECT WITH EMILY Instagram https://www.instagram.com/emily_amerson_/ LINKS AND RESOURCES MENTIONED ONCE UPON A GENE - EPISODE 151 - Rare Friends Forever - Hanging Out and Showing Some Love to Brene Brown with Katie Lloyd and Adam Johnson https://effieparks.com/podcast/episode-151-rare-friends-forever 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 https://effieparks.com/podcast/episode-125-katie-lloyd ONCE UPON A GENE - EPISODE 205 - Mastering the Art of the Supermarket Answer When Someone Asks, How Are You with Jennifer Siedman https://effieparks.com/podcast/episode-205-mastering-the-art-of-the-supermarket-answer 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/

Background Music Credits: Title: Sensual Folk Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

Intro Music: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music License: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

ONCE UPON A GENE - EPISODE 203 These Two Rare Disease Parents Never Met Until Now and Have Everything In Common - Chronic Compassion Chronicles with Kim Gilsdorf and Daniel DeFabio Rare disease parents, Kim Gilsdorf and Daniel DeFabio, join me for a deeply emotional and thought-provoking conversation about grief. They both lost their sons, both named Lucas and they've shared much of the same rare disease journey with countless moments of emotions, challenges and unexpected moments of strength. We'll discuss their grief, exploring how they've managed to hold onto anger and tenderness simultaneously. We'll also talk about the complexities of supporting those who are grieving and how the term "ritualized chronic compassion" plays a role in their healing.  EPISODE HIGHLIGHTS When it comes to the death of a child, how can contradictory feelings co-exist post-death? Positive feelings and negative feelings take turns, one giving way to another. Being a parent after you've lost a child is both beauty and terror. The hardest part is accepting where you are. There's a sense of relief no longer having the burden of care-giving, but that comes with a feeling of betraying your child because the price you paid for not doing the work is not having your child anymore, which is an unbearable price to pay.  In the context of grief and parents who have lost a child, how have you navigated and managed your anger and held onto tenderness? Anger is looked at as a negative emotion we shouldn't have, but the feeling is just like any other feeling and is sometimes a necessary, healthy response. Considering the purpose of each emotion, acknowledge and make space for it, followed by the work of each. Tenderness helps me to listen intentionally where anger acts as an energy. You can't just be angry or stay in a state of anger, but anger can fuel advocacy and drive your actions for good. While it's tempting to place blame, it helps to resist taking anger into blame, acknowledging that sometimes there's not a reason for things happening and there's no one or nothing to blame. Safety is an illusion and the absence of safety, we can be so angry, but what we can give our children and ourselves is tenderness. It's a great paradox, being in the face of injustice, having the response of being tender and angry.  What do you want to leave grieving parents with? Grief starts for many on diagnosis day and ritualized chronic compassion can start then, even if death isn't on the horizon. Sadness isn't scary when you stay present in grief, because when you make time for it, with sadness comes love.  LINKS AND RESOURCES MENTIONED Grief https://grief.com/ Healing through the Dark Emotions: The Wisdom of Grief, Fear, and Despair https://www.amazon.com/Healing-Through-Dark-Emotions-Despair/dp/1590301013 We Need to Ritualize Chronic Compassion - August 26, 2023 https://www.rarediseasefilmfestival.com/blog Kimberly Gilsdorf on CPN https://courageousparentsnetwork.org/blog/author/kimberly-gilsdorf/ Daniel DeFabio on CPN https://courageousparentsnetwork.org/blog/author/daniel-defabio/ The Disorder Channel https://www.thedisordercollection.com/ Dante Labs https://us.dantelabs.com/ CONNECT WITH KATIE Facebook https://www.facebook.com/childlifeoncall Instagram https://www.instagram.com/childlifeoncall/ TikTok https://www.tiktok.com/@childlifeoncall 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 - EPISODE 202 Utilizing Child Life Specialists - Empowering Rare Disease and Medically Complex Families in Hospitals Nationwide with Child Life On Call Founder - Katie Taylor Katie Taylor is a child life specialist and Founder of Child Life On Call, who is working to close the resource gap through the intersection of child life services and technology. Her mission is to educate, empower and bring rare disease families the support they never knew they needed. We're talking about how to harness the power and magic of your child life specialist's expertise and about the immense value they can bring to your rare disease journey. EPISODE HIGHLIGHTS What is a child life specialist? We are psychosocial care and child development experts who work in healthcare and our job is to look at the whole family system with a child development lens and determine how we can best support families, equip them with tools and coping skills and make them feel like confident advocates in challenging situations.  What inspired the inception of Child Life On Call? I was a child life specialist working at a small hospital with little resources for connecting parents. I first started the podcast to serve as a tool to connect parents and a platform for parents to share their experience and resources. With more apparent gaps, I knew I had to continue striving to fill it. What do child life specialists do in a hospital and what gaps exist? Typically we're procedure or diagnosis based and we're there to help prepare and support children and families during diagnosis and equip them with the education, tools and resources necessary in those situations. We also have non-clinical responsibilities such as training other staff and teaching child development and how to serve families. We also sit on pain management and bereavement committees and weigh in with a family-centered focus. Unfortunately, there are more families in need of support than there are child life specialists and there are multiple demands of our jobs, clinical and non-clinical. Through Child Life On Call, I'm trying to ensure families come to the hospital and have access to the Child Life On Call App and they can easily access resources they may need.  What are your future goals for Child Life On Call? It's not health equity when one family gets a child life specialist and another family doesn't. We are working to sell the app to hospitals, which doesn't replace child life specialists, but it gives parents the resources they need. We're currently in one hospital and we'll be in three by the end of the year. LINKS AND RESOURCES MENTIONED Child Life on Call https://childlifeoncall.com/ Child Life On Call Podcast https://childlifeoncall.com/podcast/ My Mejo App https://app.mymejo.com/ Dante Labs https://us.dantelabs.com/ CONNECT WITH KATIE Facebook https://www.facebook.com/childlifeoncall Instagram https://www.instagram.com/childlifeoncall/ TikTok https://www.tiktok.com/@childlifeoncall 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/

Music credits: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

ONCE UPON A GENE - EPISODE 199 Navigating as a Rare Mom - Expert Insights into Special Needs Financial Planning with Mary McDirmid from Special Abilities Network Mary McDirmid is a rare mom and Chief Inclusion Officer at Special Abilities Network. She has a passion for advocating for families like ours— families with children who have disabilities and rare diseases. She's here to talk us through the uncomfortable topic of financial and future planning for our rare families.  EPISODE HIGHLIGHTS How do parents approach planning for their children's future when things feel so uncertain? If you don't have the capacity to think about it, the first thing to do is to figure out what you can do to create space and capacity. Triage anything that's causing a lot of stress so you can move from caregiver mode to parent mode.  What's the importance of planning when you have a child with disabilities or rare disease? The importance is that if a child is on any type of state or federal benefit, we want to ensure they keep those benefits. When they turn 18, they're legally an adult and they can only have a certain amount of assets in their name. There's only a couple places we can put money to help them save and not have funds count against their asset limits. It's important to also be able to supplement financial care when you're no longer around. The importance is keeping your child benefit-eligible and to ensure your child is cared for.  What is your advice for parents who don't have the financial resources to save for their child's future? Apply for state benefits and leverage those resources to find funds. Think about other resources such as family members who can contribute. Examine how your family is spending money  and reflect on your personal spending habits to see if there's somewhere to save.   How can families advocate for change around policy and providing better care for our kids? If you're up for the fight, you have the time, and you have the capacity, think about what you want to achieve, be clear in your ask and be prepared to follow up. If you're considering taking something on, ask yourself if the project benefits from your special skill or expertise, if it serves the community you represent, and what / who you want to be held accountable to.  LINKS & RESOURCES MENTIONED Dante Labs https://us.dantelabs.com/ Special Abilities Network https://specialabilitiesnetwork.com/ TSC Alliance https://www.tscalliance.org/ State Disability Resource Guides https://truenorthdisabilityplanning.com/idd-roadmaps 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/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

Music Credits: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

ONCE UPON A GENE - EPISODE 198 Advocating with Heart - Striking the Balance Between Medical Insights and Personal Narratives - A Tribute to Valerie Marie with RING14 Co-Founder Yssa Dean DeWoody Yssa Dean DeWoody is an incredible advocate and mom, sharing her journey through the intricate world of rare disease advocacy. She unveils the concept of transitioning between the Valerie side, where medical realities are confronted, and the Marie side, where the personal essence of her daughter shines.  EPISODE HIGHLIGHTS Can you share about your connection to the rare disease world? Our journey in the rare disease world started about 18 years ago with the birth of our third daughter, Valerie Marie. At three months old, she started having seizures and she was quickly diagnosed with RING14 Chromosome. We had the opportunity to attend an international family conference and it set us on a path to what it was like to be part of the rare disease community. I was inspired by the research and the idea that I could contribute to the community.  Can you tell us about Valerie Marie and why you're so intentional about differentiating between Valerie and Marie separately? My daughter's full name is Valerie Marie. My family refers to my daughter as Marie. Doctors always referred to her as Valerie. In time, it personified different aspects of my daughter where Marie was my daughter and her personality, her likes and dislikes. Valerie took on the more clinical presentation of her symptoms. If someone called my daughter Valerie, I knew they knew her in a medical sense and I had to create value around her by informing them who she was as a person.  What is your advice for families who want to share their stories effectively with a balance of objectivity and emotion? Whether it's at an IEP meeting at your child's school, a fundraising talk, or a speech at a large conference, it's best to start in the emotional realm with a hook that draws people in. Start with a personal story that invites the audience into your world in a personal way. Transition into a more scripted conversation guided by organized thoughts, clear ideas and a clear ask. It helps to have a clear outline in advance and know what you want out of it.  Can you share why you donated Valerie's brain to research and what the potential impact is on the rare disease community? At a research workshop, several experts emphasized the importance of brain donation in the event of a tragedy. There are so many critical questions with RING Chromosomes that might be answered from Valerie's brain donation. As a leader of the foundation with a heart for research, we chose to honor her life and continue her legacy in a way that could impact the community and inform research strategies.  LINKS & RESOURCES MENTIONED Dante Labs https://us.dantelabs.com/ RING14 USA https://ring14usa.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/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

ONCE UPON A GENE - EPISODE 197 Rare Disease Dad Chronicles - From Stay-At-Home Fatherhood to My Mejo Co-Founder A Journey Through Costello Syndrome and Parenthood Challenges with Dadvocate - Ryan Sheedy Ryan Sheedy is a dadvocate and the Co-Founder of My Mejo. He shares his journey of courage and determination to provide a service for the rare disease community through My Mejo and of being a rare dad.  EPISODE HIGHLIGHTS Can you tell us about your journey as a rare disease dad? My wife and I found out unexpectedly that we were having twins and that has been the theme of our journey-- you can think and prepare for what will happen and then throw it out the window because you're not in control. Reynolds and Campbell are five and a half years old. We weren't aware of complications with the twins, my wife had a scheduled c-section and we were excited to meet our babies. When they were born, it wasn't the joyous moment we imagined experiencing because both babies immediately experienced complications. That began our journey of a lot of unanswered questions, research, praying, hoping and tests.  What was the motivation for starting the My Mejo platform? During the time in the NICU and trying to keep all the information organized and detailing it for sharing, I drafted the idea to solve the problem of remembering everything and connecting the dots. I created a one pager of all Reynolds' key information and I'd provide it to all new providers and therapists. Reynolds was the inspiration for the platform, but I'm inspired daily by the people I get to meet because of the platform. We launched in June 2022 and today we have 1,400 users using the platform across the country.  How does the My Mejo platform work? My Mejo allows you to collect and consolidate all the information you may need into one place and allows caregivers to provide all the information relating to a child to healthcare professionals or other caretakers. We have a section called Getting to Know Me where parents can note personal details that humanize medical encounters. We work on simplicity everyday- on keeping the platform super simple and very useful. Instead of information being scattered across different places, My Mejo allows you to organize information in a format that is easy on the eye in a version that can be downloaded into a .pdf file, journal, playbook or through text or email with controllable access rights. I should also mention that the platform is completely free for families to use. LINKS & RESOURCES MENTIONED Mejo https://www.mymejo.com/ Global Genes 2023 RARE Advocacy Summit https://globalgenes.org/event/rare-advocacy-summit/ Costello Syndrome Family Network  https://costellosyndromeusa.org/ Dante Labs https://us.dantelabs.com/ International Rett Syndrome Foundation https://www.rettsyndrome.org/ My Rett Ally https://myrettally.mymejo.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/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

Intro music credited to: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music License: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

ONCE UPON A GENE - EPISODE 196 A Rare Collection - School’s Out for the Summer 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 Karen Pratt When school lets out for the summer, it's stressful and I have to prepare in advance because I depend on school care for my sons so I can work. I recently received a call that my son Jack would be getting a nurse. Unfortunately, we have been through several nurses who weren't well suited for my son's care. It's been frustrating to not have the help that's desperately needed. My oldest son Luke doesn't qualify for nursing, despite not being able to walk or talk, depending solely on adult care. It's been another stressful summer without sufficient help, balancing all the demands of caring for them at home, working and doing the other things I need to do.  Julie Anderson While other families are opening their pools and planning getaways, my husband and I are planning for our daughter's summer and navigating the effects of CTNNB1. Summer has become synonymous with stress and anxiety for our family. We've noticed that our daughter's meltdowns increase in frequency during school breaks, particularly over summer break. She thrives on structure and the stimulation school provides. We can't provide the same structure, stimulation and attention she receives from aids and teachers at school. We've learned to plan ahead, feel our feelings, adapt and move forward. We found ways to make the summer enjoyable and we've even planned time for ourselves. Jennifer Spina  When I think back to my carefree childhood summers, I recall swimming, running through the woods and exploring with friends. Summer break looks different now. The world is generally inaccessible for a child with physical and cognitive disabilities. The uncertainty and planning for a parent is intimidating and isolating. It's hard to be different and stared at. It can be painful to be surrounded by the able-bodied comparison of your child. For a long time, I avoided situations and places that would trigger me. During a neighbor's backyard gathering, I realized that I didn't want to be the reason Nora couldn't experience true inclusion and relationships with our neighborhood children.  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 - EPISODE 195 Anecdotes From a Rare Disease Dad of an Adult Son with NR4A2 with Joe Henry Joe Henry is a rad dadvocate of an adult son with NR4A2 and he's been around the block a time or two, here to share reflections and stories from his journey, spreading hope to all the parents who feel hopelessness. EPISODE HIGHLIGHTS Can you share about your son and diagnosis journey? My wife and I had some fertility issues and finally had our son Franklin. When he wasn't meeting any of his milestones, we started down the diagnostic path, seeing a neurologist, getting an MRI and limited genetic testing to the extent that it was available 27 years ago. Franklin was diagnosed with Pervasive Developmental Disorder (PDD), which today falls under the umbrella of autism. More recently, we had additional genetic testing done and results revealed my son has NR4A2 related syndrome.  What motivated you to have additional genetic testing done after so long and what did that change for you? There's an old Russian proverb that says "trust, but verify" and I have always been the type of person who prefers to go to the source to verify and not go by what someone tells me. Over the years, I've read many books that have helped me to navigate where I'm going. When I first got the diagnosis, I couldn't focus on anything else and with time I learned more and more. Now that I have an accurate diagnosis and better understanding, I can reflect back on his struggles and better understand the reasons why those things happened. In your opinion, what should parents focus less energy on and refocus elsewhere that you've found valuable on your own journey? I'd say to quit worrying about the future. Live for the moment. Love your partner and don't stress the little things because everything will work out. The future might get better, it might get worse, but either way, our experiences make us better people. Personally, I'm more compassionate than I used to be due to the trials and tribulations with my son. Things that happen to us, happen for facets we wouldn't think and can help us be better.  LINKS & RESOURCES MENTIONED Simons Searchlight https://www.simonssearchlight.org/ Dr. Temple Grandin's Books https://www.templegrandin.com/templegrandinbooks.html Autism: Explaining the Enigma by Uta Frith https://www.amazon.com/Autism-Explaining-Enigma-Uta-Frith/dp/0631229019 Oliver Sacks Books https://www.oliversacks.com/books-by-oliver-sacks/ IFTT https://ifttt.com/ Google Alerts https://www.google.com/alerts Real Anthony Fauci: Bill Gates, Big Pharma, and the Global War on Democracy and Public Health (Children’s Health Defense) https://www.amazon.com/Real-Anthony-Fauci-Democracy-Childrens/dp/1510766804 Genetics for Dummies https://www.amazon.com/Genetics-Dummies-Tara-Rodden-Robinson/dp/0470551747 Going Down the Steps with a Gun in his Hands https://www.aprilhenry.com/my-great-grandfather-the-killer.html?fbclid=IwAR12kpKGX-T6oYwEY54d2i5fNuPGD3Zv1G5wk9h3MxDlnuO-ohMAPnqrtRw 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/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

ONCE UPON A GENE - EPISODE 194 A Guide for Rare Disease Patient Advocacy Groups - Choosing and Designing a Patient Registry with Sophia Zilber Sophia Zilber has 28 years of experience in the pharmaceutical industry and she's a patient registry expert, volunteering her expertise to help the rare disease community in memory of her daughter who died from a mitochondrial disease called Leigh's syndrome.  EPISODE HIGHLIGHTS Can you tell us about yourself and your experience as a rare mom? My personal experience with rare disease started 6 years ago when my daughter was born with Leigh's syndrome. She became very sick at about three weeks old and she died a month later. Professionally, I work in data analysis for clinical trials in the pharmaceutical industry. Since the loss of my daughter, I have used my knowledge to help with patient registry data. I'm also currently on the board for the Cure Mito Foundation.  What is a patient registry? A patient registry is a collection of data that describes a specific disease which can be used for purposes such as clinical trials, research on the disease, understanding a disease burden, examining how people use the healthcare system or to look at the natural history of the disease. There are many valuable reasons to have a patient registry.  How do you determine the most valuable information to include in a patient registry? Understand the scope and what your group can realistically achieve. Think about what you want to get out of the registry, whether or not the data is accessible, if you want to recruit patients for clinical trials or if you will share insights with the community.  For small groups without money, how do they start a registry? When it comes to data, less is more. If you have a smaller data set with information relevant to the disease that shows specific findings about the disease, the quality of the data will be better. I recommend that every group has an advisor who can analyze the data dictionary, assess and understand it, and advise the appropriate format of the data based on the goals of the group. When you have data available in a good format, you can share insights and use the registry to advance the group's goals, and it doesn't have to cost a lot.  What advice do you have for groups who have a registry, but don't know what to do with it? Don't wait for researchers to take interest in the data because there's a lot you can do with it on your own. If you have data you can access and draw insights from, share that within the community to raise awareness. Print posters and share them at conferences. If you have the resources, write a paper to distribute. Make sure companies who do clinical trials know you have a registry. Know your data because the better you know your data, the more others will see the value in your findings. When you use your registry to show a community standing together, there's more interest in studying your disease.  LINKS & RESOURCES MENTIONED 2023 Global Genes Week in RARE https://globalgenes.org/week-in-rare/ Cure Mito Foundation https://www.curemito.org/ Phuse https://phuse.global/ Sophia Zilber on Linkedin https://www.linkedin.com/in/sophiazilber Patient Foundations Guide to Starting a Registry: https://phuse.s3.eu-central-1.amazonaws.com/Deliverables/Emerging+Trends+%26+Technologies/Patient+Foundations+Guide+to+Starting+a+Registry.pdf Patient Registry Transparency Checklist for Patient Foundations: https://phuse.s3.eu-central-1.amazonaws.com/Deliverables/Emerging+Trends+%26+Technologies/Patient+Registry+Transparency+Checklist+For+Patient+Foundations.pdf Myths vs. Facts about Patient Registries: https://phuse.s3.eu-central-1.amazonaws.com/Deliverables/Emerging+Trends+%26+Technologies/Myths+VS+Facts+About+Patient+Registries.pdf Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

ONCE UPON A GENE - EPISODE 192 From the Rare Disease Bunker to Many More Birthdays - A Tale of a Gene Therapy that Cures her Daughter with AADC Deficiency - The First Spanish Patient - with Carolina Moreno Enjoy this presentation by rare disease mom, Carolina Moreno, which she originally shared at the 2023 International CTNNB1 conference held in Spain. LINKS & RESOURCES MENTIONED Ahora sí, te quiero tal como eres / Now yes, I love you as you were https://neret.cat/producte/ahora-si-te-quiero-tal-como-eres/ Columbus Foundation https://fundacioncolumbus.org/ First patient treated for AADC deficiency with gene therapy by Columbus Foundation https://fundacioncolumbus.org/first-patient-treated-for-aadc-deficiency-with-gene-therapy-by-columbus-foundation/

ONCE UPON A GENE - EPISODE 190 SCN8A Rare Mom - The Inch Stone Project and DEE-P Connections - Creating Better Tools, Resources and Research for the Most Severely Affected Families with Gabi Conecker Gabi Conecker is an incredible advocate who has worked in the rare disease space for over 10 years. She's accomplished a lot, all while caring for her for her son Elliot with SCN8A and a severe variant of epilepsy.  EPISODE HIGHLIGHTS Where does your rare disease journey begin? My son Elliot was diagnosed with SCN8A in 2014, and there were only about ten known cases in the world. We founded Wishes for Elliot as a way of doing something when nothing was being done. It has evolved into the International SCN8A Alliance and we are focused on research, advancing the field, providing resources and supporting families.  What is DEE and DEE-P? Developmental and epileptic encephalopathies (DEEs), is a hard to control form of epilepsy that cannot be treated with the drugs currently on the market, accompanied by developmental delays and/or regression. Developmental Epileptic Encephalopathy-Project (DEE-P) was formed to break through the isolation families face while researching their children's symptoms and challenges, to facilitate connections and share critical resources with families facing similar challenges. What is the Inchstone Project? The Inchstone Project is a multidisciplinary group of consumers, stakeholders, researchers and clinicians collaborating to accelerate outcome measures development. We came together to address an unmet need and to identify and develop tools to measure patient response to therapies. Our goal is to release a survey soon around head control so we can begin measuring and capturing data. We will continue to test and adapt the tools in preparation for clinical trials.  How can parents and other patient advocacy groups get involved? Visit our website and get in touch with me. For the Inchstone Project, we want to get as many families involved as possible so that when we're developing tools, your voice is heard and you can ensure your child is included.  LINKS & RESOURCES MENTIONED 2023 CTNNB1 Natural History Study, Family Meeting, and Research Conference https://www.curectnnb1.org/research/research-conference/ Wishes for Elliot https://www.wishesforelliott.com/ International SCN8A Alliance https://scn8aalliance.org/ SCN8A Unraveled https://scn8aalliance.org/scn8a-unraveled/ DEE-P Connections https://deepconnections.net/resource-center-main/ Inchstone Project https://deepconnections.net/inchstone-project/ 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/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

Intro Music Credits: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

ONCE UPON A GENE - EPISODE 187 A Rare Collection - Keep Digging 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 Angela, Mom to Yiannis with IRF2BPL, a neurodegenerative disorder When Yiannis was born on a Saturday evening in July 2020, we knew immediately that something wasn't right. He was whisked away to the NICU and nobody could tell us what was happening. Yiannis was in the NICU for more than two weeks without answers. After 18 months, a neurologist started to piece the puzzle together. Through whole exome sequencing, we found Yiannis had two ultra rare fatal progressive neurodegenerative disorders, IRF2BPL and LSM1. We started a foundation, Yellow for Yiannis, to be a leading resource forIRF2BPL funding and for the support of other families that are enduring this disease. Katie, Mom to Beau with KIF1A, a neurodegenerative disorder  On December 17th, 2021, just shy of a month after his second birthday, our son was diagnosed with KIF1A, a super rare genetic condition that affects about 400 people in the world. We had a healthy, happy pregnancy leading to a pretty uncomplicated birth. Beau  met all of his milestones and he was a healthy baby. When discrepancies in his communication, social skills, gross motor and fine motor skills developed, Beau was diagnosed with KIF1A through genetic testing. I encourage any parents who don't feel okay with a diagnosis to keep digging and keep pushing for the safety of your child.  Dana, Sister to Jason and Sean with BCAP31  After years of genetic testing, it was revealed that my brothers Jason, age 21, and Sean, age 18, were both missing six pairs of their x chromosome. There's no cure for what my brothers have. They're the oldest documented case and most families I've met since have received a diagnosis for their kids around 3 years old. It was at that age when my mom noticed that Jason wasn't hitting his milestones. Kelly, Mom to Emma with dopamine transporter deficiency syndrome (DTDS) When my daughter was 2 months old, I started noticing she was missing milestones. I sought out a complex care pediatrician who started running tests and lab work. Emma received a cerebral palsy diagnosis, but I couldn't accept this diagnosis and sought out other opinions. After a genetic panel on neurotransmitters a genetic counselor revealed the real diagnosis- dopamine transporter deficiency syndrome. Had we settled for the CP diagnosis, we wouldn't have known that our daughter's life expectancy was only late adolescence or that a gene therapy clinical trial will be available.  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 - EPISODE 186 The Tréxō Robot and the Many Benefits of this Technology for Kids with Disabilities with the Founder and CEO Manmeet Maggu Manmeet Maggu is the Founder & CEO of Tréxō Robotics. Manmeet’s commitment to helping children with cerebral palsy walk drove the vision for Tréxō. An engineer and MBA by training, Manmeet has previously worked in several technical and project management roles before inventing a device called Tréxō, a robotic walker used in therapy programs. He joins me on this episode for a deep dive into the device.  EPISODE HIGHLIGHTS What is the origin of your vision for the Tréxō device? I have a background in robotics, but the history of Tréxō begins when I found out my nephew was diagnosed with cerebral palsy and learned he wouldn't be able to walk. I convinced my friends to help build a prototype for my nephew to help him walk. We worked hard, flew the device to India to try it with my nephew and it didn't work. We made a few more changes and tried again and it allowed him to take a few steps, which proved technology could be a bridge to improving access in his life. Other families started inquiring about getting a Tréxō for their child and that's when the company was born, with the goal of enabling walking for any child that wished to do so.  How does the Tréxō work? The Tréxō is designed around an existing walker called a Rifton Dynamic Pacer. The Rifton is the base support structure and we design the robotic legs that attach onto the Rifton. The Rifton provides support and the legs provide the power to walk. Full control is in the hands of the parent or caretaker, operated by a tablet interface. There are different modes for each child's needs and abilities. Sensors on the device detect the user's initiation, if they're helping or resisting and where in the gait they're helping. There are a lot of features built into the system which allows for the maximum potential benefit from physical therapy, walking and exercise.  How do families obtain a Tréxō for home use? If you want to buy the Tréxō, it costs $35K-$40K, but it can also be leased for around $1K per month on a 12 month lease. Many families use fundraisers, grants or Make-A-Wish. We are starting to get some insurance coverage as well. Families can look at the fundraising and grant resources on our website. LINKS & RESOURCES MENTIONED Fundraising and Grant Resources https://www.trexorobotics.com/category/resources/ Tréxō Robotics Website https://www.trexorobotics.com/ Wish-to-Walk https://www.trexorobotics.com/make-a-wish-and-trexo-robotics/ Find a clinical location with a Tréxō https://www.trexorobotics.com/trexo-locations/ 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/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

ONCE UPON A GENE - EPISODE 185 The Outlet - How Chris Anselmo Used Writing to Connect with Other Rare Disease Families and Come to Terms with His Own Diagnosis of Limb-Girdle Muscular Dystrophy Chris Anselmo is an avid writer and communicator living with Limb-Girdle Muscular Dystrophy, which has undoubtedly contributed to how adaptable, resilient and compassionate he is.  EPISODE HIGHLIGHTS What has your diagnosis journey been like since the onset of symptoms? I have Limb-Girdle Muscular Dystrophy Type 2B and I was diagnosed at 18 years old as a result of a car accident my senior year of high school. I was getting ready to be discharged from the hospital when a doctor said routine blood work revealed my creatine kinase levels were elevated and they thought I may have suffered an internal injury they weren't aware of. With more x-rays, they couldn't find anything internally, but they sent me for further testing. I was eventually diagnosed with Dysferlinopathy, was told I wouldn't have any symptoms and that I would be fine so long as I didn't do anything incredibly strenuous. A few years later, I started developing symptoms and began to think it was the disease I had been diagnosed with years before. I saw a neurologist and received confirmation that the disease was progressing earlier than expected. How did the reality of your diagnosis impact you? I expected the symptoms to come much later in life, not when they did. It was a lot to handle the magnitude of the diagnosis and also the time of life that I was in, in my early twenties, living with college friends. I could imagine my friends advancing in life and their careers, getting married and having kids, buying homes and traveling, and my day-to-day was consumed with abilities I was losing.  I didn't reach out for help and I should have. I didn't handle it well and I wasn't the best version of myself. I was in a dark place and felt frustrated, jealous and stuck.  What helped to change your perspective and help you connect with community? Writing for me is like what exercise is for others. It was the outlet I needed and it had become something that has helped me to process my emotions. Writing became therapy and also helped people close to me to understand what I was going through, more honestly than what I would share in conversation. What I went through was traumatic and difficult and it was important to have an outlet, to understand what was happening in a way that allowed me to take control and share my story. Writing has also helped me to connect with other people who I have things in common with.  LINKS & RESOURCES MENTIONED ONCE UPON A GENE - EPISODE 183 - Wishing Well https://effieparks.com/podcast/episode-183-wishing-well Born a Hero Foundation https://www.bornahero.org/ Rare Disease Fair https://rarediseasefair.com/ The Muscular Dystrophy Association https://www.mda.org/ Rare Disease Dadvocate Blog https://rarediseasedad.com/ Sidewalks and Stairwells https://sidewalksandstairwells.com/ Hello, Adversity https://helloadversity.substack.com/ To the Boy Who Stared at Me After I Fell on My Crutches - The Mighty https://themighty.com/topic/dysferlinopathy/to-the-boy-who-stared-at-me-after-i-fell-on-my-crutches/ 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/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

ONCE UPON A GENE - EPISODE 184 More of Everything - How I Became a Better Parent to My Child With Extreme Special Needs By Lifting My Emotional Burdens With SYNGAP1 Mom - Janie Reade Janie Reade is an author and mom to three adult sons, one with a severe neurodevelopmental disorder caused by a mutation in the SYNGAP1 gene. We'll talk about her unique perspective as a parent and also about her book, More of Everything: How I Became a Better Parent to My Child with Extreme Special Needs by Lifting My Emotional Burdens. EPISODE HIGHLIGHTS Tell us about yourself and your family. I am married with three adult sons. Joey is our second child and he lives in a group home. When he was younger, he wasn't developing as he should and started biting his hand. When he was little, he wasn't hurting himself, but as he aged stress made biting worse and there was little I could do to help. After he went to a group home, he stopped biting a couple days later.  Can you talk about your book? The goal of the book was to show who I am and how I think. The first portion of the book is a series of vignettes starting at age four, going through age 21. At the end of each is a looking back section where I summarize about that time and a lesson section about my takeaways. I also talk later in the book about acceptance and frustration. Finally, I talk about parent coaching, which is what I do. Growing up with Joey, did either of your other two sons grow up and go into a compassionate-led career? No, but they're both very compassionate and emotionally-aware people. My oldest son volunteered as a peer counselor when he was in high school. It was a way for him to talk to people and help them through problems. He has a very emotionally deep soul. My youngest son has always been very inclusive and a connector of people. After Joey moved and I was very sad, my oldest son told me that our family was a group project and that, just like in a group project, we had to do what was best for everyone. How did you find community support and what did it change for you? I tried support groups and they weren't a good fit due to the severe intellectual disability my son has. When he was younger, I was told he would catch up, so I didn't fit in an intellectual disability group either. I didn't find people for a long time.  LINKS & RESOURCES MENTIONED The Two Disabled Dudes Podcast - Episode 215 – Birthday Parties Can Be Tough https://twodisableddudes.com/215-birthday-parties-can-be-tough-with-guest-host-effie-parks/ The Disorder Channel https://www.thedisordercollection.com/ Emotional Agility: Get Unstuck, Embrace Change, and Thrive in Work and Life https://www.amazon.com/Emotional-Agility-Unstuck-Embrace-Change/dp/1592409490 More of Everything: How I Became a Better Parent to My Child with Extreme Special Needs by Lifting My Emotional Burdens https://www.amazon.com/More-Everything-extreme-special-emotional-ebook/dp/B0BQ2C7HNL Janie Reade Website https://janiereade.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/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

ONCE UPON A GENE - EPISODE 183 A Rare Collection - Wishing Well 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 Wendy Erler It's my privilege to work in patient advocacy within the rare disease community. The people who have come into my life have impacted me, people have opened their hearts and shared vulnerable moments, fears and wishes. Over the last 20 years, my work has immersed me in rigorous science, clinical research, data and people driven to help patients and find treatments for rare diseases. But it's the families and parents who have fueled me to do more and champion their voices everyday. A wishing well is a term from European folklore, describing wells where spoken wishes are granted. When I asked an 11 year old boy, who lost his ability to walk, what he wished for, he wished to hold a spoon and feed himself so his mom could eat her own dinner. The power of wishing is fundamental in the rare disease community and we can all learn from the families that have boundless optimism and resilience.  Tom D’Amato I work in patient advocacy and I'm a rare dad. The rare journey has been isolating, confusing and has led to some dark days. I found through therapy and working in the rare disease community that you can control your reactions and response in emergency mode. You can control how you care for yourself, your child and your spouse. I wish to never forget to never forget the beauty that comes from this journey. As I stand in front of the wishing well, reflecting on my wish for my family and the rest of the rare disease community, I wish to embrace the strength, wisdom and happiness that comes from this journey.  Sophia Cacciatore I have the best job in the world where I get to meet the most incredible people with the fiercest minds and hearts. I get to build bridges and break down walls to make a little magic. I'm a space-maker. Just like Snow White singing in the wishing well, I will always be an echoing voice for families. I will echo all of your wishes until they roar so loudly that your wishes are answered.  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/

Intro Music: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

ONCE UPON A GENE - EPISODE 181 Helping Undiagnosed Patients Who Experience Symptoms of Rare Diseases Find Answers with Free Genetic Testing in a Matter of Weeks with Probably Genetic CEO Lukas Lange Lukas Lange is the CEO and Founder of Probably Genetic. They seek to give genetic testing to families who are experiencing symptoms of a rare genetic disorder. Go to probablygenetic.com, fill out a survey, and see if you qualify for a free genetic test so we can get more patients diagnosed who have been in buckets and under umbrellas for too long. EPISODE HIGHLIGHTS What led you to specialize in rare disease? I became fascinated by genetics, knew it was a field I wanted to be involved in and two professors I worked with were rare disease icons. One of them built the 100,000 Genomes Project, which is the largest rare disease study on the planet.  How was Probably Genetic born?  When I was working on the 100,000 Genomes Project as a PhD student, I needed patients' phenotypes in a structured format so I could figure out what was causing their disease when I analyzed their genome. The idea I had was that if we could develop an algorithm, we could flag undiagnosed patients and share that insight with their doctor for further testing. With re-energized inspiration from a parent, our core idea shifted to develop phenotype technology which parents or patients would contribute to, and couple that with a telemedicine genetic testing service so undiagnosed patients receive a test kit and subsequent clinical lab report to share with their provider.  Can you talk about the first survey on autism? The mission of the company is to diagnose 200 million rare genetic disease patients. We think there are about 40 million people on the planet who have a rare disease, and at least 50% of them aren't diagnosed. There are many rare diseases for which autism is part of the phenotype, but there's a large underdiagnosis rate. Children with an autism diagnosis often don't have genetic testing, but for a lot of conditions that present with autism symptoms, we have a good chance at finding rare disease through testing.  What is the most rewarding aspect of starting Probably Genetic? It's really hard to build the type of technology and service we're building. It requires raising a lot of money, recruiting really smart people, and understanding compliance constraints so that you can make the service safe for people. It took a long time and took a real toll on my personal mental health also. We eventually got to this point where, as a team, we had a huge sense of accomplishment realizing we made a difference in a life based on this crazy idea we had. In this particular case, this patient had an ultra rare mitochondrial disorder that comes with very severe muscle weakness where patients lose their ability to breathe independently. This person saw an ad for our service on Facebook while they were hospitalized on a ventilator. It was bittersweet-- the sweet side of it being that we were able to find this person, get them an answer and get them a clinical lab report. It was great proof of concept for us, but also unbelievable that no one initiated genetic testing for this patient before then. LINKS & RESOURCES MENTIONED Seattle Rare Disease Fair & Summit 2023 Registration https://app.smartsheet.com/b/form/14aefca977cd43548885a2d1b4f1f2d5 100,000 Genomes Project https://www.genomicsengland.co.uk/initiatives/100000-genomes-project The Disorder Channel https://www.thedisordercollection.com/ Probably Genetic https://www.probablygenetic.com/ Email Lukas [email protected] 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/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

Intro music: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

ONCE UPON A GENE - EPISODE 180 Patients and Caregivers Being Compensated to Tell Their Stories and Get Connected to Research Opportunities with Rare Patient Voice Founder Wes Michael Wes Michael is the Founder of Rare Patient Voice, which connects families and caregivers of rare and non-rare diseases with opportunities to share their stories and their opinions with companies and researchers by participating in all types of studies— surveys, phone interviews, bulletin boards, focus groups, clinical trials, and more.  EPISODE HIGHLIGHTS Can you tell our friends listening a little about what you do?  I started a company called Rare Patient Voice almost 10 years ago now. What we do is  invite patients and caregivers to take part in studies, phone or Zoom interviews, online surveys, or online focus groups for our clients, who typically are working on behalf of the pharma companies, device companies or academics. They want to know what patients are thinking and patients are compensated for their participation, currently at a rate of $100 / hour. We go out to patient events, walks, conferences and fundraisers and invite them to join. When we get a request that matches their condition or disease  category, we'll send them an email and we serve as the matchmaker.  What inspired you to start Rare Patient Voice?  My background was not in healthcare. I was involved in market research for Wheaties and Cheerios. But then I moved into the healthcare field 30 or so years ago, and I was very excited because companies there were just learning to talk to patients. They started advertising drugs directly to the patients on TV. We were contacted by a company that was in the rare disease space— they worked in hemophilia. They explained there were very few patients, but they were very important to them and they wanted to learn from them through surveys and interviews. We were asked to build a panel, so we went to the National Hemophilia Foundation, had a booth and table, we talked to people and asked if they were interested in sharing their opinions. A couple years later, we were approached by a different company that also worked in hemophilia and they also wanted to access the patient panel. It got me thinking about creating a group of people that could be invited to studies for numerous companies and include different conditions and diseases. Now we represent 750+ diseases.  Do you help guide patients and caregivers from the beginning to help them tell their story?  Our clients are the moderators and they'll prep people and make sure they're comfortable. To prepare for an interview, you just bring your opinions. You don't have to do any special studying or research. The key is to be honest because you don't have to impress anybody. They just want to know the truth.  How can listeners sign up? People can sign up on the website by providing specific information which is kept confidential. They'll get a double opt-in email and it's as simple as that. LINKS & RESOURCES MENTIONED Rare Patient Voice Website https://rarepatientvoice.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/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

ONCE UPON A GENE - EPISODE 179 Take Part Founders and PYROXD-1 Parents - Matt and Maria Granados Matt and Maria Granados are the parents of 4-year-old Natalie, who suffers from a rare form of muscular dystrophy called PYROXD-1. They are the founders of the Take Part Foundation which helps to fund research for rare pediatric conditions.  EPISODE HIGHLIGHTS Can you tell us a little bit about yourselves and your family? We are a family of four, almost five, with one on the way. Natalie is our oldest daughter and she has a very rare form of muscular dystrophy that is labeled by the gene called PYROXD-1. She has a little brother named Ziggy who just turned four. And I am pregnant with the next little brother. Matt and I have been married for almost eight years. We are entrepreneurs at heart, so we have owned our own businesses for quite some time. We started a foundation for our daughter when we found there wasn't much known about her condition, and we wanted to know more and do all we could. Can you tell us a little bit about PYROXD-1?  To describe Natalie's condition, gravity is her worst enemy. She has complete movement, but can't stand, can't sit herself up and can't roll herself over. Nat's condition as a whole is a genetic mutation that's causing her muscles not to act the way they should. Very little is known about the PYROXD-1 gene, so much of the research our foundation funds is for Nat's gene. We're also focused on providing more genetic testing for people who can't afford it.  What was the initial funding focus and the first step you took that inspired the foundation?  When we were given the dollar amount that they needed, we knew we could help raise the money.  When you're a parent of a child with a rare condition, you're hyper-focused on just their condition, so we never considered so many other people affected by rare disorders. When we realized that rare wasn't all that rare, we started thinking about how we could help more people. When we started Take Part, we also started Warrior Page to help parents tell their story no matter their technical background. We can't fund every single rare condition, but Warrior Pages can help every parent and it's completely free on our website.  What do families do and how do they take advantage of Take Part as a resource? Our mission is to take existing medical research that's in infant stages, aimed at rare pediatric diseases, and we help fund it until it gets to the point where other major funding organizations can get involved. A huge part of what we do is to provide resources for families and parents to tell their story. We came up with these three ways that people can take part. If you're listening to this and you have a kid with a rare condition, go to our website and create a Warrior Page. If you don't have a rare condition, but know someone who does, share this resource with that family. LINKS & RESOURCES MENTIONED Take Part Foundation https://take-part.org/ Warrior Page  https://take-part.org/warrior/ Life Date Guide  (use code ONCEUPONAGENE) https://www.lifepulseinc.com/personal-resources/lifedate/ Life Pulse Planner  (use code WARRIORFAM)* https://www.lifepulseinc.com/personal-resources/the-executive-lp-planner/ *Email [email protected] with the subject ONCE UPON A GENE for planner tips 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/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

Intro music by Scott Holmes Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

ONCE UPON A GENE - EPISODE 178 A Rare Collection - Exhausted and Energized 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 Annie Kennedy, Rare disease advocate with the EveryLife Foundation I have a quote in my office that says "she took her power back without permission". As I stood in the back of the legislative conference during Rare Disease Week, the opening speaker asked a room full of more than 600 advocates to, by a show of hands, show who was in Washington for the very first time for Rare Disease Week to advocate on Capitol Hill. I realized that more than 50% of the room was raising their hands and I immediately thought of that quote. More than 50% of that room was taking their power back for the very first time. That was exhilarating. There were many other exhilarating moments throughout the week. While the week was absolutely exhausting, full of meetings, documentary screenings and conferences, it was exhilarating. More than 600 advocates traveled and came together for an exhilarating week during Rare Disease Week, advocated together and shared stories. We took our power back and changed the rare disease landscape forever. Sarita Edwards, Rare mama and co-founder of The E.WE Foundation Our son, Elijah, was diagnosed in utero with the rare disease Edwards Syndrome, or Trisomy 18. Events like Rare Disease Week are important to me because it's an opportunity to raise awareness about Elijah's diagnosis and champion legislation we believe can help families like ours. Several weeks ago, I celebrated Rare Disease Week, alongside 600 rare disease advocates and 300 patient organizations in Washington, DC. To say I was energized is an understatement. The days were long and full of content and conversations, and though I was energized, I was also exhausted. I was exhausted watching advocates push themselves to limits on behalf of the rare community. It was exhausting walking from building to building, speaking with legislators who are in charge of the decisions that affect our day-to-day lives. I was exhausted thinking about how much we believe all of this makes a difference, and hopeful it actually does. Exhaustion is the evidence of my energy being used properly. I was exhausted, but I'm energized and I'm just getting started as a rare disease advocate.  Abbey Hauser, Ehlers-Danlos patient and Rare Disease Advocate and Board Member with Team Telomere There were two versions of me that existed in Washington, DC last week. There was the excited, engaged, educated and enthusiastic patient advocate. There was also the rare disease patient who laid alone on their hotel room floor at the end of each night, taking extra pain medications, hoping that the next day would go better for their body. Both versions are equal and valid to my story, yet most people only see the excited and engaged advocate that I am. I know the quiet moments that I laid on my hotel room floor are part of what makes me such a powerful patient advocate. I left Washington, DC exhausted beyond words and my body was pushed to its limits. Being a patient is hard, but being energized is worth the exhaustion. LINKS & RESOURCES MENTIONED The E.WE Foundation https://theewefoundation.org/about/ Team Telomere https://teamtelomere.org/ 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/

ONCE UPON A GENE - EPISODE 177 Real Rare Mama Shop Talk - Deciding What We Share About Our Lives and Recognizing How Far We've Come with Each Passing Year with Alyssa Poskarbiewicz CHARGE Syndrome Mom Alyssa Poskarbiewicz is a mom to a daughter Lenny, who has CHARGE syndrome. I actually got to meet her in person last spring and she's beautiful inside and out. I think you'll enjoy our conversation, but also go on to listen to all the past Once Upon a Gene episodes, especially the once-monthly storytelling episodes, which Alyssa has contributed to. EPISODE HIGHLIGHTS What are your concerns and how do you decide what to share about Lenny online? It's personal for everybody. There are times that I feel a need to share personally and times when I pull back. Interestingly, people will often reach out when I'm not sharing to make sure everything is okay. I wasn't someone to share personal things before, but I needed a different level of support and this journey looked different than it did when I had my first child. I didn't have friends with children in the NICU or born with serious medical concerns. I didn't know anyone with a personal experience with a rare genetic disease. I used social media to seek out resources, podcasts and communities, which has been helpful to me and allowed me to open up more.  How do you move through situations or moments when people make comments that bother you? This is a practice and it takes time to get here. I started trauma and processing therapy last fall and I've found it to be tremendously helpful because I was very easily triggered by hurtful comments before. I have made a lot of progress in letting comments slide, but I'm still working towards this practice that really depends on whether or not I'm in a good place and how my daughter is doing at the time. Sometimes I can brush things off and sometimes things strike me and I need to vent and talk through my feelings.  Can you talk more about the type of trauma therapy you do and what you've taken away from it? When we were in the NICU, we were assigned a therapist and I first connected with her. She would come in casually to talk through the diagnosis and things coming up in the hospital. She would also come in to talk with us at subsequent hospital stays. She recommended trauma therapy to me, so I found a therapist. We started with EMDR- reprocessing because I was experiencing a lot of PTSD. We did several sessions of EMDR, which I found to be helpful. Then we moved on to general processing, talking through things, processing emotions and moving forward. LINKS & RESOURCES MENTIONED ONCE UPON A GENE - Episode 139 - Remember Who You Are https://effieparks.com/podcast/139-remember-who-you-are Courageous Parents Network https://courageousparentsnetwork.org/ Emotional Agility: Get Unstuck, Embrace Change, and Thrive in Work and Life https://www.amazon.com/Emotional-Agility-Unstuck-Embrace-Change/dp/1592409490 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/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

Background music by: Title: Living Life Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/

ONCE UPON A GENE - EPISODE 175 Every Patient Matters - Discovering, Developing, and Providing Experimental ASO Treatments to Nano-Rare Patients for Free with n-Lorem Founder and CEO Stan Crooke Stan Crooke is the Founder and CEO of the n-Lorem Foundation. He's also the Founder and former CEO of Ionis Pharmaceuticals, the leader in RNA-targeted therapeutics. Under his leadership at Ionis, he pioneered development of the revolutionary antisense technology platform and created one of the largest, most advanced pipelines in the biotechnology industry. His foundation is now using this technology to discover, develop and provide personalized, experimental antisense oligonucleotide medicines to nano-rare patients for free, for life.  EPISODE HIGHLIGHTS What do you do at n-Lorem? With antisense oligonucleotides (ASOs), we design chemically modified pieces of genetic information and those pieces of genetic information allow us to target a specific RNA, which is the molecule that gets transcribed from your DNA to make the protein that makes cells work. Because we now understand that code very well, and because we have a lot of experience, we can be very rational, efficient and inexpensive compared to traditional drug development. In a nano-rare patient, a patient with a unique mutation in a single gene, we begin with this incredible advantage. We can create a genetic medicine for many of these genes and mutations and do that very rapidly and inexpensively and provide medicines for free to patients. What criteria does a family need to meet to become a n-Lorem candidate? The patient has to have a disease with a mutation that is present in no more than 30 patients in the world. By definition, our patients are truly unique and extremely rare. Patients also have to be genotypically and phenotypically characterized fully. A patient has to have a qualified research physician who can do all the work to understand what's wrong with the patient and then treat the patient with an experimental medicine after we make it.  How are some of your patients doing on the drug created for them?  The first patient that was treated with a personalized ASO that we were involved in was an 18 year old German named Anna who has a rare form of ALS. It manifests itself typically in early teens, and untreated is extremely rapidly fatal. Anna was desperately ill when the ASO treatment was started and we weren't sure if we'd even get the ASO to her before in enough time. She recovered and did remarkably well. She's now walking up multiple flights of stairs on her own with no ventilator. She has a speaking tube so her mom can hear her talk for the first time in almost three years. She's also planning to go to school. Anna even wrote a personal note to me, and for a patient with ALS to have the fine motor coordination to do that is really quite astonishing.  Where do you think we're going be in 5 to 10 years with personalized medicine? We look forward to being able to treat thousands of patients, which means we'll also be learning incredible amounts from each of these patients. We are committed to sharing what we learn and we'll have our first annual meeting of investigators, patients, and parents this year. As we learn more, then I think there will be more interest in this space, and as we create a model of quality, others can follow. I hope that as n-Lorem succeeds, we serve as a model for others to follow, and we drive policy changes that will enable more people, more technologies and more organizations to come to the aid of patients who are unserved. LINKS & RESOURCES MENTIONED https://www.mi-reporter.com/opinion/show-your-stripes-to-honor-rare-disease-day-on-feb-28/ https://www.nlorem.org/ https://www.ionispharma.com/ https://twodisableddudes.com/ https://www.ultragenyx.com/rare-entrepreneur-bootcamp/ https://open.spotify.com/episode/14RO0pNneHdpYxSqEzk1l7

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 173 Honoring a Husband’s Legacy by Finishing His Work on a Documentary About Rare Disease Acute Flaccid Myelitis and Her Own Grief Along the Way with Sarah Potter Sarah Potter's husband Scott got sick and passed away while he was in the middle of creating a documentary about a rare disease called Acute Flaccid Myelitis and the families affected by it. Sarah has immersed herself into film making to finish Scott's documentary, all while working through her grief. The film is called When The Lotus Blooms and it will be released in Fall 2023. EPISODE HIGHLIGHTS Can you tell us about your rare disease and grief journey? My husband was working on a film about a rare disease called Acute Flaccid Myelitis (AFM), sharing the stories of affected families not having answers about the cause or treatment. We experienced something similar when my husband had a medical event and was hospitalized for several months before we lost him in July 2020. Because he was so passionate, I knew the story had to continue to be told. It's been a wonderful way for me to honor his legacy and do the good in the rare disease community that he set out to do.  What is your husband's connection to the AFM community? He was active in our local live storytelling community where there were monthly storytelling events and that's where he met a professor with an expertise in epidemiology. When she learned my husband was a filmmaker, she approached him with a story of a mom in her network who had a little boy with AFM and she asked for his thoughts on how to create a film to make an impact and create change around the disease. He was hooked and worked for the better part of a year to gain funding and do research before the filming began. How does your grief align with families in the rare disease community? There are a lot of parallels and I have the ability to connect with them, understanding what it's like to be going along with your day-to-day and suddenly something changes in a split second that your world is different.  What advice do you have for families who want to make a film? If you have a desire to tell your story, think about your takeaway, audience, how you want them to feel and what you want them to do. Everyone in the rare disease community has two elements of a wonderful story-- something unique and something inspiring. If you have an engaged patient advocacy community, I would recommend crowdfunding to fund the film production. LINKS & RESOURCES MENTIONED Sarah Potter on Twitter https://mobile.twitter.com/storyofthelotus/with_replies How to Carry What Can't Be Fixed: A Journal for Grief https://www.amazon.com/How-Carry-What-Cant-Fixed/dp/1683643704 It's OK That You're Not OK: Meeting Grief and Loss in a Culture That Doesn't Understand https://www.amazon.com/Its-That-Youre-Not-Understand/dp/1622039076/ref=tmm_pap_swatch_0?_encoding=UTF8&qid=&sr= Megan Devine on Facebook https://www.facebook.com/refugeingrief Megan Devine on Instagram https://www.instagram.com/refugeingrief/ Becky Sansbury on Twitter https://twitter.com/AftrTheShock After the Shock: Getting You Back On the Road to Resilience When Crisis Hits You Head On https://www.amazon.com/After-Shock-Getting-Resilience-Crisis/dp/0692447571 The Rare Disease Film Festival  https://www.rarediseasefilmfestival.com/ Follow the AFM Documentary  https://afmfilm.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/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 172 From Cancer Biologist to Rare Disease Mom - Digging Into the Data to Better Understand SCN8A with Madeleine Oudin PhD - Professor of Biomedical Engineering at Tufts Madeleine Oudin is a scientist and Tiampo Family Assistant Professor at Tufts University. Her daughter Margo has two de novo mutations in the SCN8A gene, which causes epilepsy. She's navigating life as a rare, working mom and sharing her knowledge in an understandable and accessible way for other rare parents.  EPISODE HIGHLIGHTS Can you tell us about the epilepsy conference you just attended? The SCN8 community organizes the conference for clinicians, researchers and families every year at the American Epilepsy Society meeting. There were over 35 families in attendance who have children with SCN8A and it was amazing to meet everyone in real life. What advice do you have for parents who aren't sure about attending a conference? Meeting other people has made a big difference for me and I encourage others to find their people. Going to gatherings can lead to finding resources and there's value in connecting to others and learning more about a disease. Community is everything. As a scientist and now a rare parent, how do you look through the microscope differently? The impact of genetic testing surprised me in how vital it is when it comes to rare genetic diseases. When Margo had her first seizure and had genetic testing, the results helped to connect us to community. Genetic testing is vital for families to connect them to resources. What work have you done in the SCN8A community to help other families understand the disease and advance the treatment progress? Science communication is something I'm passionate about. Since becoming a rare mom, I started an Instagram account where I explain the science of the diagnosis and break it down so the information is accessible to everyone. I recently did a webinar breaking down the different treatment strategies for SCN8A.  Can you talk about Margo's acceptance to n-Lorem? We applied with our neurologist and were accepted into the foundation to develop custom Antisense oligonucleotide (ASO) treatments. In parallel, we're doing treatments in my lab on a mouse and mouse cells, testing out different ASOs to see if we can gain any additional insights. LINKS & RESOURCES MENTIONED ONCE UPON A GENE - Episode 139 - Remember Who You Are https://effieparks.com/podcast/139-remember-who-you-are Margot_thebrave on Instagram https://www.instagram.com/margot_thebrave/ SCN8A Alliance   https://scn8aalliance.org/ American Epilepsy Society https://www.ilae.org/ The n-lorem Foundation https://www.nlorem.org/ SCN8A Unraveled https://www.youtube.com/playlist?list=PL-RngxzecxdLsaJFQyerqqfGLarDe9MUt 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/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

ONCE UPON A GENE - EPISODE 171 Never Give Up - Two Decades of Struggles From Diagnosing Their Children to Starting a Clinical Trial For Aspartylglucosaminuria with Rare Mom Julia Taravella Julia Taravella is a mom to two adult children, Alexander and Daniel, and she's the founder of the Rare Trait Hope Fund. Julia's sons didn't have a diagnosis for 16 years until she went above and beyond to seek out answers and use the genetic data available to her to reveal a diagnosis of Aspartylglucosaminuria (AGU), a rare, fatal, lysosomal storage disorder.  EPISODE HIGHLIGHTS Can you tell us about your sons and their diagnosis journey? Alexander and Daniel are 22 and 27. In kindergarten and first grade, Daniel was doing below average. Daniel was 5 years old when his brother Alexander was born. Alexander started early intervention, but started to have the same delays as Daniel. Having two children presenting the same developmental delays, I suspected it was genetic, but it was difficult to get genetic testing at that time. I sought consultations with physicians and specialists, the boys underwent testing, and all results revealed they were within the expected range. A direct-to-consumer genetic test came out on the market and I bought two of them for my husband and I, figuring there may be something uncovered through our DNA. We went on to test both kids and close relatives too and the results were inconclusive. I dug deeper by downloading all of the data from the testing website and went back to doctors with it, but I wasn't taken seriously. I found a person in bioinformatics who agreed to analyze and clean up the data. When the data was returned, I took genetics classes for 6 months, wrote a program to analyze the data and determined my sons had AGU. The diagnosis was confirmed by doctors through further blood and urine testing. What did you do after getting a diagnosis?  I attended a conference and connected with new families with other glycoprotein lysosomal diseases and it helped to meet them. I had hope that something could be done and I frantically started writing emails to anyone I could find in the published AGU literature. I wrote about 200 emails and through those emails I connected with a Finnish doctor who invited me to go to Finland to meet with her. We stopped in Germany on the way and connected with a biochemist to discuss potential treatment options.  What should everyone watch out for when developing gene therapy programs? It's important to have a signed sponsorship agreement about how research and funding is handled without knowing what you'll get in return. Take small steps and don't invest everything you've raised at once to test if you'll receive the results you want within the time frame you've set. Step-by-step developments will help develop a rapport with your researcher to develop trust and gain understanding about where funding goes. Also be sure to understand who is working on what and maintain open lines of communication with everyone. LINKS & RESOURCES MENTIONED Rare Trait Hope Fund https://www.raretrait.com/ 23andMe https://www.23andme.com/ ONCE UPON A GENE - EPISODE 154 - A Groundbreaking Gene Therapy In Record Time to Cure His Son with SPG50 Sets a New Course For Future Rare Disease Treatments with Terry Pirovalakis https://effieparks.com/podcast/episode-154-terry-pirovolakis-groundbreaking-gene-therapy 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/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 170 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.  EPISODE HIGHLIGHTS Noelle When your child has a progressive, degenerative disease, you learn that every moment is precious and to roll with the punches. My son Logan has a rare genetic disorder called Sanfilippo Syndrome, a progressive and fatal disorder that causes mental and physical deterioration. Children lose the ability to perform skills such as walking, talking and swallowing. There's not currently a treatment or cure. The day Logan was diagnosed, I learned life doesn't always go as planned. The picture perfect future planned in my head was gone. I grieved my child and the future I thought we would have. I was scared of the new future and I closed myself off emotionally. I can't change what the future holds for Logan, but I don't want to miss up on feeling the love, joy, and even the sadness that comes along with this new beginning. I live in the moment and when something goes wrong in life, I yell "plot twist" and move on.  Frances In Emily Rapp Black's memoir, The Still Point of the Turning World, she describes parents of terminally ill children as dragon parents. Like medieval map makers inscribing unknown regions of the world, we represent a parent's worst fear- the grief of receiving a death sentence for their child. My daughter Violet passed all of her newborn screenings in the hospital, but I soon became concerned with how sleepy she was and how difficult she was to feed. Our pediatrician referred us to a neurologist who ordered a brain ultrasound and genetic testing, but the results didn't offer any answers. With more symptoms developing, I sought out more opinions and Violet was finally diagnosed with a rare and fatal mitochondrial disease called pyruvate dehydrogenase complex deficiency (PDCD). My transition and new beginning as a dragon mom had already begun as I flew around every last corner of the internet hunting for answers, ready to breathe fire upon anyone who tried to harm my daughter. Violet is a powerful unicorn teacher and I am her fierce and loyal dragon. Patrick My son Calum has rare chromosome abnormalities. His first seizure was scary and opened a chapter full of new beginnings. As his dad, this chapter taught me to be grateful and to have a perspective that allows me to celebrate every moment I can. Calum's first seizure was an awakening. I realized that I needed more opportunities and experiences with my kids and to focus more on them and less on myself and my work. We celebrate every day like the new day it is and Calum has given me that perspective. 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 - EPISODE 169 Happiness Is Meant to Be Shared with Author, Storyteller, and NEMO dadvocate Andrés Treviño Andrés Treviño is a dadvocate, author and storyteller. His story is full of twists and turns and even moving across countries to save his child. I had the pleasure of meeting him in person at the Global Genes Patient Advocacy Summit and I'm thrilled that you get to meet him too, because happiness is meant to be shared. EPISODE HIGHLIGHTS Can you tell us where your story begins? Andy and Sophia are the reason I got into advocacy. Andy was born in Mexico City with a condition called NEMO in 1999. Within 48 hours of birth, he developed a life-threatening infection and he wasn't able to fight the infection without IV antibiotics. My wife and I quickly became experts in extreme parenting, living in the hospital for almost 1000 days with Andy, battling infections of his nervous system, bones, GI tract, sinus and skin. We found a hopeful solution in moving to Boston. In Mexico City, we received a diagnosis of bad luck, but after a couple months at Boston Children's Hospital, we got a real diagnosis and real answers. In 2004, our daughter Sophia was born. Cells were gathered from her umbilical cord and at a couple months old, additional blood was taken from her bone marrow. The bone marrow and umbilical cord stem cells were used in a complex procedure to replace Andy's affected cells.  How are Andy and Sophia now? Andy is 23 and graduating college in December. He is studying Communications. Sophia just recently started college. They have a very special bond. We also have a third daughter Tanya who is 13 and a blessing.  What motivated your decision to do the work you're doing? My career was originally in professional communications, but after what we lived through, I wanted to help others facing similar situations and facing rare disease. I get to meet so many people in the rare disease community that inspire me with their resiliency.  What are your tips for someone who wants to tell their story? Think of six words that explain your story, like "happiness is meant to be shared", which is what I use to share my story. This gives you a starting point. Canned stories, or those that are read from a script, doesn't convey a story told from the heart. A raw story is sharing something very difficult and emotional which makes listeners feel bad for you, but it doesn't leave them compelled to do something. A well-told story is crafted, moments are selected to connect with the audience and practiced instead of read. Positive stories move people and make others feel hope.  LINKS & RESOURCES MENTIONED The Disorder Channel https://www.thedisordercollection.com/ Andy & Sofia: Stem cells, scientific miracles and one fit savior https://www.amazon.com/Andy-Sofia-scientific-miracles-savior/dp/0615422373 Living Proof Advocacy  https://www.livingproofadvocacy.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/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 168 Being Brave, Curious and Motivated to Help Make a Difference with DLG4 Research Mama Payal Patel I met Payal Patel at the 2022 Global Genes Patient Advocacy Summit. She's digging in and getting things done, she really impresses me and you have to meet her. You'll definitely be seeing more of this rare mom.  EPISODE HIGHLIGHTS What led up to your attendance at the Global Genes conference last year? My daughter was diagnosed with a rare disease in July 2022. I had just met another mom whose child had a mutation on the same gene and she mentioned the Global Genes conference. I decided to go, but upon arrival, I felt really out of place not knowing anyone there. I didn't know what to do and I wasn't confident in putting myself out there to network. I told my husband that I was going to fly home and he convinced me to stay and see what happened, and I'm glad I stayed. It was a magical three days of networking, learning and meeting mentors.  How did you find the courage to go to the Global Genes summit after getting a diagnosis only a couple months earlier? When I got the diagnosis, I wasn't in a good head space, but the idea of doing nothing scared me more than taking the leap of going to the conference. It was a good starting point to go and see what others were doing for their kids and it was the best decision I made. I made so many connections with rare disease advocates that have helped me to get to where I am.  How did you teach yourself about DLG4 and determine your next steps? A month after diagnosis, I shared the information within my network on Facebook and asked for help. I asked specifically for scientists, doctors and geneticists to help and so many people stepped up. A friend invited me to visit her in the lab to explain the science around how proteins work. Another friend who is a genetics counselor met with me. I attended the Global Genes summit, but I also kept researching and figuring out what to do next. I read blogs, listen to podcasts, talk to patient advocacy groups, network and ask questions.  What are you planning for right now? I feel strongly after talking to doctors and patient advocacy groups, that I want to do a drug repurposing screen for our gene. I'm taking things one step at a time-- the most obvious is a drug repurposing screen that isn't going to cost an amount of money I can't raise and it'll be impactful in the short-term for anyone impacted by DLG4. Looking at the big picture, my confidence takes a hit, so I'm taking things one day at a time, understanding that I can't control the variables of the future. LINKS & RESOURCES MENTIONED 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 Save the Date for the 2023 RARE Patient Advocacy Summit https://globalgenes.org/event/rare-patient-advocacy-summit/ 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/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

ONCE UPON A GENE - EPISODE 167 Care Team Prescription - The Importance of Clinical Pharmacists with Chase Palmer Chase Palmer is a pharmacist on the board of Alström Syndrome International. In rare disease, we need all the help we can get, and he's motivated and he's jumped right in to share his voice. He’s been dubbed the rare disease pharmacist– and I think it’s going to stick.  EPISODE HIGHLIGHTS Can you introduce yourself and tell us how you became involved in rare disease as a pharmacist? In 2020 I started working with a nonprofit called Alström Syndrome International. We work with persons living with Alström syndrome, which is a rare genetic disorder that affects almost every cell and organ in the body, starting with blindness and deafness and leading to major organ failure. I was approached by ASI to become a member of the board and began meeting with patients living with rare disorders. I've been trying to learn more and more as time goes on to hopefully treat and cure Alström syndrome and other rare disorders.  What does it mean to practice as a clinical pharmacist? A clinical pharmacist is a hospital pharmacist or a pharmacist with a specialty. Some clinical pharmacists work in a specialization like cardio or infectious disease. They work with patients in a hospital, acute care setting or ambulatory care setting to monitor medications and understand side effects and interactions to provide the best quality of life possible. What approach can pharmacists be in helping to manage the care of kids with rare disease? For patients taking multiple medications, I think it's important to have a pharmacist on the care team who is monitoring drug interactions to ensure medications aren't negatively affecting organs and making sure they're safe and effective, making things better and not worse.  Do you have any advice for getting drugs covered by insurance companies? Insurance can be a major barrier and they may require patients to try alternative medications first. If that happens, make sure the insurance company's preferred medication is going to have the same positive result and not have any interactions with other medications or side effects. Sometimes a doctor can submit a pre-authorization and get medications covered that way.  Do you recommend that patient advocacy groups connect with pharmacists as board consultants? I think it's a good idea to have a pharmacist on the board and it can be really progressive and allows for multi-disciplinary care for rare diseases and genetic disorders. A pharmacist can help to manage medications, consult with other advocacy groups and other pharmacists and optimize care. I think they play an important role in moving rare disease forward and meeting the needs of patients. LINKS & RESOURCES MENTIONED Alström Syndrome International https://www.alstrom.org/ Voices of the People - The Alström Syndrome Journey https://vimeo.com/770936312 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/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 165 A Rare Collection - Holiday Cheer 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 Jessica Johnson I love holiday cookies, parties, and gift-giving, but my best source of holiday cheer is my son. He is the definition of festive and his excitement is infectious, inspiring feelings of cheer and joy. While he and I spent the day decorating our new Christmas tree, I was reminded of what's truly important during the holidays-- being with my family, seeing my son filled with pure joy and happiness despite his challenges. The holidays can bring about stress, anxiety and sadness for many families. For those families finding themselves in a hard season, remember you're not alone and it will get better. However small or insignificant, define your own holiday cheer. Ed Gabler Growing up, the holidays meant a real tree in the corner of the living room, tied to each wall so the cats wouldn't knock it over. My dad read 'Twas the Night Before Christmas to all of us kids and on New Year's Eve. After my children were born, my wife and I started new traditions. Now as a grandparent, we share traditions with our daughter's family, but it looks a little different. Our grandson Cole was diagnosed with SYNGAP1 and making holiday cheer has required some adaptations and improvising. Cole's mom and dad created traditions to include everyone. They focus on the small wins, the smiles and laughs Cole shares when he's happy or excited. Rare holiday cheer is special.  Anthony Royal  As far back as I can remember, the holidays have never been a joyous occasion for me. In South Carolina, the holidays were warm-- no fluffy, white snow or kids speeding downhill on sleds. As a kid with un-diagnosed ADHD and anxiety, having more family around meant more people around to be mad at me for something. I was never keen on Santa either. My wife goes all out on decorations with five Christmas trees in the house, lights, holidays signs and swag along the halls. My son also loves the holidays. He has CTNNB1 syndrome with symptoms that make life difficult for him, many of which have only added to my holiday depression in the past years. My son's excitement for the holidays has helped me to love them again. You could say my heart has grown three sizes since he was born. 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 164 The Clinical Pharmacist - Why They Are A VIP For Our Care Team and How We Can Get to Know Them - With NARS1 Rare Disease Mom - Rachel Heilmann Rachel Heilmann is a rare mom and founder of The Rory Belle Foundation, which was started in honor of her daughter who had NARS1. She's also a clinical pharmacist on a mission to make a difference for our kids and advocate for palliative care for rare families. EPISODE HIGHLIGHTS Can you tell us about yourself and your family? In my past life, I was a clinical pharmacy specialist. My daughter Rory Belle was born in October 2019 and she was hospitalized for failure to thrive. She was 8 months old when she was diagnosed with NARS1. My daughter passed away in February 2021 from NARS1.  What is a clinical pharmacist? A clinical pharmacist is someone who works alongside care providers to help improve the care for patients. I was residency trained after pharmacy school to gain extra skills and expertise to practice to my fullest potential and to work with physicians and nursing partners to administer care.  How do we as parents get you on our team? Inquire to see if there is a clinical pharmacist or clinical pharmacy specialist available at your facility to refer you to so you can ask any questions you have. When it comes to consent, what can be leveraged? Consent is the golden seal of documentation when understanding your risks and benefits and providing protection for a prescriber and parents. I always tried to outline for the prescriber the benefit and risks of a medication for a patient to make conversations easier between the prescriber and the patient. As a parent, if you have documentation for drug repurposing, provide that data and ask the prescriber what the concerns are and open up the conversation so that you can balance benefits and risks. And if needed, ask if there's a clinical pharmacist available to add to the conversation. How do we create awareness and make this a standard of care to have a clinical pharmacist on our team? I think the first thing is to ask for the resource when you're at appointments. I'd like to see more legislative efforts. There are states that leverage their pharmacies to work under protocol that allows them to practice more freely. With the pipeline of therapies coming out, like gene therapy and repurposing with FDA labeling, these things need to be handled in a deliberate fashion. If you keep asking, people will start partnering.  What advice do you have for families? The most important takeaways are not to take no for an answer and ask your doctor to connect you with a clinical pharmacy specialist if you need help pushing conversations forward. LINKS & RESOURCES MENTIONED The Rory Belle Foundation https://www.therorybellefoundation.org/ Varient App https://www.varientapp.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/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

ONCE UPON A GENE - EPISODE 163 How Far We've Come - A Look at the FOXG1 Research and Family Conference with Rare Mama and Co Founder Nicole Johnson FOXG1 Research Foundation Co-Founder and rare mom, Nicole Johnson, shares takeaways from the November FOXG1 Syndrome Science Symposium & Parents Conference.  EPISODE HIGHLIGHTS Can you tell us about your daughter Josie and about starting the FOXG1 Foundation? Josie is 11 years old and she is the cutest little girl. She's amazing in that she has FOXG1 syndrome and can't do much, and yet she's the happiest, most joyful little girl and I feel blessed to have her in my world. My mission is to give Josie and every child with FOXG1 syndrome the healthy life they deserve. On the diagnostic journey, I was blogging and that's how I met Nasha Fitter after her daughter was diagnosed. We teamed up with other FOXG1 parents across the world and formed the FOXG1 Research Foundation in 2017.  What were your top highlights and takeaways from the FOXG1 Syndrome Science Symposium & Parents Conference? We hosted two conferences in one and the first was a science symposium where scientists from all over the world met privately in Florida to present their data. I couldn't believe how much science was underway. Seeing how far we've come on the science-front was really incredible, as was the promising data that was uncovered. It was clear that this isn't a job for the scientists involved-- they are invested in helping all children with FOXG1 to live a life without suffering. The parent's conference was a blend of clinicians, scientists and FOXG1 parents that all came together to learn from each other-- to connect, learn and inspire. There was a lot of information and a lot of inspiration. What advice do you have for patient advocacy leaders in motivating their caregiver and patient population to better understand their disease, get involved and participate in fundraising? There's a lot we want to say to parents to communicate the work that's being done to improve their children's lives, but it's a challenge because people see things quickly and go on about their day. My best advice is to let the work speak for you. For anyone starting or running a patient organization, it is hard to reach your whole community and convince your whole community to get involved, but the more work you do, the more parents will see the work that's being done.  What advice do you have for advocacy leaders who want to hold a conference? If you're thinking about doing it, absolutely do it. We were able to get sponsors which allowed us to do a travel scholarship and that helped parents to come, removing the burden of cost. When we were deciding on a venue, we looked at where the majority of the families lived and chose a place that doubled as a vacation. I recommend choosing a vacation-type location that adds an extra level of enjoyment.  LINKS & RESOURCES MENTIONED FOXG1 Foundation https://foxg1research.org/ 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 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 Ciitizen https://www.ciitizen.com/ Josie's Journey Blog https://josiedevin.blogspot.com/ Pam Skillman https://foxg1research.org/resources Nikki McIntosh https://raremamas.com/ Dr. Allyson Berent https://cureangelman.org/about-fast Race to 100K https://foxg1research.kindful.com/foxg1-awareness-2022 FOXG1 Research Foundation YouTube https://www.youtube.com/@FOXG1Research/videos Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

Intro music by Scott Holmes

Shownotes to follow

ONCE UPON A GENE - EPISODE 161 A Rare Collection - Beep Beep Beep 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 Brittany Stineman Emergency vehicles headed towards us and the sound of the vehicles coming to save my child's life played on repeat. The tears were different this time. They were tears of joy, gratitude and hope. Nash was born with an ultra-rare genetic condition called SMARD1. He was 11 months old when he was diagnosed, with a life expectancy of only 13 months and there were no treatments. No option was not an option. We started a non-profit called SmashSMARD and we focused on developing a treatment for SMARD1. We celebrated Nash's third birthday in a major way. The same emergency responders who have saved his life on multiple occasions joined the birthday parade celebrating a milestone we never imagined we'd reach.  Matt Hay In elementary school, the nurse conducted hearing tests in class. Each student took a turn wearing the headphones while the nurse turned several knobs, and each would raise a hand a dozen or so times to acknowledge they heard the beeps. When it was my turn, she only played a few beeps, or so I thought. Later in high school, I applied to the United States Military Academy. During the physical, the doctor played the familiar tones, scribbled some notes in my file and said the Army would be sending me a letter to explain what I needed to know. When the letter arrived, I learned that I failed my physical due to substandard auditory acuity and I wasn't qualified to serve in the Army. A few years into college, I could no longer hear well enough to use the phone. When I saw an audiologist, I was referred to a neurologist and MRI results revealed I had bilateral acoustic neuromas on my hearing nerves. I was diagnosed with Neurofibromatosis type 2 (NF2), a rare neurological disorder.  Erin Reoyo Beep, beep, beep sounds the familiar driver of the garbage truck right outside my son's room. She looks for him in the window, but he's not there to wave and cheer as she picks up the bins. I know how much my son adores the garbage truck driver and it's clear she adores him too. She doesn't know he lives with a rare, catastrophic epilepsy called Dravet Syndrome. I've never shared my son's story with the driver. Perhaps I want to spare her the worry and grief that comes with caring for someone with Dravet Syndrome.  Amanda Griffith Atkins When you were three years old, your backpack was bigger than you as you went up the steep stairs of the big yellow bus, off to your first day at preschool. Your school was equipped to care for kids with disabilities and you were safe with teachers that understood your disability. There was a lot to celebrate, but I lost something that day realizing our safe and quiet days at home were over. I waited eagerly at the end of the school day, listening for the beep-beep of the bus, and I ran out to take you into my arms. Can you believe it was ten years ago when you first stepped onto the bus? A lot has changed since then and you're nearly as tall as me now. Although your disability will never allow you to live on your own, the bus represents freedom and independence, taking you to your own world of friends, teachers and staff who love and celebrate 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 160 A Mom's Advocacy For Her Son Who Has Hemophilia B Led to Her Own Diagnosis - With Stormy Johnson Stormy Johnson has a son diagnosed with hemophilia. She was told she was just a carrier for the disorder. This assumption, born from the fact that mostly men are diagnosed with hemophilia, meant she didn't have answers for symptoms that were plaguing her. Other hemophilia patients encouraged her to dig deeper, which led to an even tougher road of being seen by medical professionals. Stormy is storming the castle to let everyone know that women are in fact more than carriers- she's an advocate doing great work for women with bleeding disorders.  EPISODE HIGHLIGHTS Can you share your son's diagnosis journey? When I was young, I was aware of my male cousins with something wrong with their blood, but that's all I knew. When my son was three, he had his tonsils removed and he had complications in recovery that led to emergency surgery. Initially doctors thought maybe he had a bleeding disorder, but he was released after a few days. A couple months later, he had blood in his urine that I attributed to a kidney blockage he had recently had. At a pediatrician's appointment, she recalled a patient with a bleeding disorder and she thought it was a good idea to check into things further. After my son was diagnosed, I realized what my cousins had was also hemophilia and that it affected others in my family as well- male and female. How did you find out you also had Hemophilia B?  When I would lose molars as a kid, I would bleed a lot. I also bruised easily. I had a laparoscopy when I was 18, which required a blood transfusion. There were always signs, but it was never questioned. After my son was diagnosed, I had testing done and took the results to the treatment center my son went to and I was referred. I was 47 when I got diagnosed.  What has motivated you to become an advocate? I found my voice at just the right time. I was terrified of speaking or talking to doctors, but I've learned so much through my experiences. Advocating is from my heart and it's not about me. Everything I do is for the community and it's been an amazing journey for me and my family.  What is your advice for women or even girls who may be listening and need tips for advocating for themselves and their healthcare concerns? It's very important to keep good notes and record everything. Speak to parents, siblings and family members who can shed light on childhood health matters or other family health history. Most importantly, don't give up. Fire your doctor and find another doctor. There's always someone out there who will fight with you, you just have to find them. LINKS & RESOURCES MENTIONED Portraits of Progress https://www.portraitsofprogress.com/ Bad Blood https://www.imdb.com/title/tt1773294/ BloodStream Media https://www.bloodstreammedia.com/ Remember the Girls https://rememberthegirls.org/ Sisterhood for Women Who Bleed on Facebook Group https://m.facebook.com/groups/235001807617544 Sisterhood for Women Who Bleed on Instagram https://www.instagram.com/vwd_hemo_sisterhood/ 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/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

ONCE UPON A GENE - EPISODE 159 Social Security Disability Revealed - Why It's So Hard to Access Benefits and What You Can Do About It with Spencer Bishins Spencer Bishins has a Master's degree in economics and a law degree, but after working for SSA for more than 10 years, he shifted his expertise to demystifying the complicated disability system. His first book, Social Security Disability Revealed: Why It's So Hard to Access Benefits and What You Can Do About It, explores the obstacles disability claimants face as they navigate the benefits system.  EPISODE HIGHLIGHTS Can you tell us about your career and what motivated you to write your book? After law school, I accepted a job with the Social Security Administration. The SSA system sometimes feels like a computer is deciding a person's case. That's partly because the rules can be very strict and partly because they're monitoring how many cases are being paid to over a million people that file for social security disability benefits every year. Feeling like a claimant is a statistic, moving through an in-personal process where their story is lost can be frustrating. The purpose of the book is to help people understand the process better and know how to deal with situations that may arise during the process.  What is the difference between SSI and SSDI? There are two social security disability programs. Social security tax paid through payroll funds the retirement program, but it also funds the SSDI program. SSDI is only for adults, but adults can also apply for the SSI program if they don't qualify for SSDI benefits. SSI payout is a lot lower payout and a lot stricter. Kids can also receive SSI based on the standard of impairment and functioning, as referenced in the ruling SSR 09-2P to SSR 09-8P. If a child has been approved for SSI, as they approach adulthood, you'll be notified that the child will undergo an evaluation to determine if they're able to work and they may lose their benefits. If a parent has worked and earned SSDI benefits, their adult child can file a claim on their parent's earning record through a program called Disabled Adult Child (DAC) claim. The wage-earner has to be deceased, retired or disabled and in some way a social security recipient themselves.  For parents who care for their children full time and can no longer work, how can they benefit from social security disability? If you've worked long enough to earn social security credits, you may have SSDI coverage. Filing a disability claim if you've paid into the system is called an entitlement and you're entitled to receive benefits if you qualify. You can talk to a social security representative if you're considering filing a claim for yourself as a parent. If you're approved for SSDI, you can also get access to Medicare. CONNECT WITH SPENCER Facebook https://www.facebook.com/BishinsPublishing/ Instagram https://www.instagram.com/bishinspublishing/ Twitter https://twitter.com/bishinspub LINKS & RESOURCES MENTIONED Determining Childhood Disability – Documenting a Child's Impairment-Related Limitations https://www.ssa.gov/OP_Home/rulings/ssi/02/SSR2009-02-ssi-02.html Bishins Publishing https://www.bishinspublishing.com/ Social Security Disability Revealed: Why It's So Hard to Access Benefits and What You Can Do About It https://www.amazon.com/Social-Security.../dp/B0B5PQ6ZYD 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/ Interested in advertising on Once Upon a Gene? Email [email protected] for more information!

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 158 Medical Student - Urvi Gupta Joins the Global Genes Rare Compassion Program with Alexions Patient Advocacy Champion Wendy Erler Wendy Erler is passionate about the caregiver and patient voice being at the forefront of her work at Alexion Pharmaceuticals. Urvi Gupta is a second year medical student, working with the rare disease community to shape her professional path forward in the medical field. In this episode, I talk with Wendy Erler and Urvi Gupta about the Global Genes Rare Compassion Program.  EPISODE HIGHLIGHTS Wendy, can you tell us about yourself? I lead the patient advocacy team at Alexion, a pharmaceutical company focused on rare diseases. We work with physicians, patients, families and caregivers and my job is focused on elevating that partnership and bringing the patient and caregiver voice into everything we do.  Urvi, can you share how you became involved with the rare disease community? In a class called Clinical Correlation, we had a patient visit and they mentioned the Global Genes Rare Compassion Program, which matches up medical students with patients who have rare diseases to allow them to learn from each other. I've had three patient partners through that program and it's been amazing and inspiring to network with everyone in the rare disease community.  Urvi, how essential do you think it is to experience a true doctor-patient relationship already? So many patients say their course of treatment varies greatly based on how well their doctor listens to them. I think that's so important when it comes to rare diseases because it's not something you see often and when a patient presents a unique set of symptoms, they can't be brushed off. It's been helpful to experience and come to understand that the patient's perspective is the one that matters and what will help get a diagnosis.  Urvi, in what ways are you interested in raising awareness of the rare disease community? I would advise all medical students interested in rare disease to join the Global Genes Rare Compassion Program. There are a lot of other rare disease organizations always looking for help and there's likely a perspective you can offer.  LINKS & RESOURCES MENTIONED Global Genes Rare Compassion Program https://globalgenes.org/compassion/ Alexion Pharmaceuticals https://alexion.com/ Connor B. Judge Foundation https://www.connorbjudgefoundation.org/ CONNECT WITH WENDY & URVI Wendy Erler https://www.linkedin.com/in/wendyerler/ Urvi Gupta https://www.linkedin.com/in/urvigupta1/ 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 - EPISODE 157 Episode 157 - The Effects of Rare Disease on Relationships and How to Cope When You and Your Partner Have Different Strategies with KCNH1 Founder and Rare Mama Michaelle Jinnette Michaelle Jinette is a wife and the mom to four boys. Her last son was born with a rare disease and she started a foundation to find and help create a therapy for kids with KCNH1 related disorders. She is also a marriage and family therapist and we're talking with her about the mental aspects of the rare disease world.  EPISODE HIGHLIGHTS What advice do you have for parents at the beginning of the rare disease journey? Find a balance of allowing yourself time to process and grieve, but try to move forward and cope in healthy ways. Find what grounds you, stay present, limit negative thoughts of the future and reach out for support from professions, friends and family.  When stuck in the comparison phase, what advice do you have for parents to move beyond that? Have perspective and be intentional about seeking and having gratitude. Bitterness will isolate you, so choose gratitude and choose to shift your focus to the abilities your child does have, to joy, to your support system, or anything else.  What tips do you have for maintaining a healthy marriage? Marriage and marriage with young kids is hard to begin with without the added complexity and stress of having kids with extra needs. You have to choose your priorities and set boundaries to focus on them. Carve time out for yourself and your spouse by hiring or asking for help. When you are together, be present and not on your phone or distracted otherwise.  In the way that men and women handle things differently, how can we ensure there's not a resulting resentment? Very frequently in relationships, there's one partner who is less comfortable with emotional connections and one partner pushing for more emotional connections. With major stressors or grief around diagnosis and health issues, women may feel like men won't talk openly and they feel isolated, when in fact, studies have shown that in conflict or emotional situations, men are dis-regulated. They're overwhelmed, but they cope by avoiding, shutting down and withdrawing. It's important to remember that while your partner may be withdrawn or holding back feelings, that doesn't mean they don't care. Try to have conversations at times when tension isn't high. LINKS & RESOURCES MENTIONED Clubhouse Gene Fixers https://www.clubhouse.com/club/thegenefixers 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 156 A Rare Collection - Batten Down the Hatches 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 My best friend- Kelly Vandewerker Prior to 2015, I lived a life unaffected by rare disease. When Effie became pregnant, I hosted her baby shower and couldn't wait for her baby to be born. I had a three year old and one year old at the time and imagined them being best friends, going to summer camp together, and spending summers together on our boat. When Ford was born, we knew something wasn't quite right and over the months that followed, he was placed on a feeding tube and made regular trips to the ER. When we had our scheduled girls weekends, Effie didn't want to talk about it- she was angry. As her friend, I didn't know how to support her and outside of sending meals, I didn't know what she needed. When Ford got his CTNNB1 diagnosis, it empowered Effie to stand up and fight. She knew what Ford was up against, she found a tribe of people and she found her voice. With that, she was able to share how her friends and family could support her and her family. I found my passion in helping Ford through fundraising, advocating, building programs and helping schools write grants to fund programs. When it comes to rare diseases, we're all learning and there are a lot of unanswered questions, so support research, support your friends and love on all the amazing rare kiddos.  Best friend to Parvathy Raman Krishnan- Sri Vidhya Parvathy and I attended school together in India from kindergarten through 12th grade. We knew each other by name and nothing more and came to the United States at different times. When my husband and I learned Parvathy and her husband lived close to us, we met with them and immediately had a spark between our families- like we knew each other forever. As our friendship grew blissfully, Parvathy's husband broke the devastating news to us that their oldest child had been diagnosed with a rare disease. My husband and I didn't know how to respond, whether to ask questions or give their family space. We decided to stay quiet, masking our heavy hearts. I started researching medical terms and gaining understanding so I could talk to my friend. It brought depth to our relationship and it gave us a bigger purpose. I'm always in awe of Parvathy and her husband's grit and determination to handle things, to inspire the world- spreading the message that nothing is too big to handle, merely by living their life everyday.  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 - EPISODE 155 CRELD1 Dadvocate Paying the Ultimate Price - Seeking Diagnosis for His Two Children, and Raising Awareness with Adam Clatworthy Adam Clatworthy is a passionate advocate and blogger with a focus on the importance of the caregiver voice and how much expertise we, as parents, caregivers and patients bring to the table.  EPISODE HIGHLIGHTS Can you tell us about your family? My wife is a pediatric nurse and I work in communications. We have a daughter named Daisy who will be 7 years old soon and a son named Alfie who is 17 months. We lost my daughter Lola just over a year ago. Our rare disease journey started with Lola and we didn't know what it was until about 18 months ago. When she was born, there were things that initially worried us and then her first seizure happened when she was 4 months old. Despite seeing several specialists over the following months, doctors didn't know what was causing Lola's symptoms. After Alfie began displaying the same symptoms as Lola, we went back to the geneticist and we were able to confirm the condition they both had was CRELD1.  Reflecting on what you know now about Lola's medical care, how do you approach Alfie's appointments? We feel heard and our neurologist recently presented a case study about the importance of listening to parents as part of the diagnosis phase. He reached out to us to understand as much as possible. When we talk about Alfie's treatment options, we feel heard when we share what did and didn't work for Lola. We're also exploring therapeutic and more natural remedies as well, so we're more resistant to trying multiple drugs and we seek out experts in fields that support the use of supplements and more natural remedies. While those remedies aren't always recognized in the general medical population, we have pushed to get guidance from the right people and bring it all together to work the best it can for Alfie.  What has been your experience connecting with other rare disease dads? I find that it's a struggle for men to talk about things and it's helpful to have an outlet to get things off your chest, vent, and get the pain and anger out of your head. Since starting the journey with Lola, I have lost touch with a lot of my friends because they didn't know how to be around me. There are a lot of moms in the rare disease community, which is great for my wife, but there aren't a lot of dads in the support groups. LINKS AND RESOURCES MENTIONED Global Genes Patient Advocacy Summit Recordings https://www.cvent.com/ CRELD1 Warriors Website https://www.creld1.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/ Once Upon a Gene TV https://www.thedisordercollection.com/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 154 A Groundbreaking Gene Therapy In Record Time to Cure His Son with SPG50 Sets a New Course For Future Rare Disease Treatments with Terry Pirovalakis Terry Pirovolakis is a rare disease crusader and father to Michael, who has SPG50. He made a gene therapy for his son in only 18 months. The work he has done will also transform the way rare diseases are treated. He's hosting free monthly 101, 102 and 103 gene therapy courses to help other families advance their programs. Learn more by visiting Terry's website, cureSPG50.org or by connecting with him on social media. EPISODE HIGHLIGHTS Can you share a little bit about Michael's diagnosis? Michael was born healthy, but wasn't hitting milestones like my other children. We learned through testing that he had a disease called Spastic Paraplegia Type 50 (SPG50). Shortly after the diagnosis, we began researching and reading articles, we flew to meet with experts in gene therapy and signed a contract a month later to start a gene therapy program which kicked off our journey. Is there a point where it's too late for gene therapy? I don't think it's ever too late for gene therapy. My perspective is that if children can get it from 1-6 months old, gene therapy can be a cure. After that, gene therapy becomes less of a cure and more of a treatment. Unfortunately for Michael, gene therapy is a treatment and not a cure, but our goal is to cure kids by getting SPG50 on the newborn screening panel so we can cure kids- not treat them.  What is your advice for other families who are on a journey to fund gene therapy and drug development? Families have to understand that a lot of money has to be raised and they have to be willing to give up a lot to get the money you need. You have to have a solid family and the right team. Get your community involved, get friends and family involved and think outside the box to spread awareness about your disease. I encourage families to take my classes and reach out to me throughout the gene therapy and drug development journey. CONNECT WITH TERRY Website https://www.curespg50.org/ Facebook https://www.facebook.com/CureSPG50 Instagram https://www.instagram.com/cure_spg50/ Twitter https://twitter.com/CureSPG50 Email [email protected] 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/

ONCE UPON A GENE - EPISODE 153 Improving Inclusion Practices in Schools with the Inclusive Educator - Bre Gastaldi Bre Gastaldi is known as the Inclusive Educator and she teaches school districts how to implement inclusive practices. She's also a special education teacher. She joins me for a discussion on diversity and inclusion in all aspects of education and the school setting.  EPISODE HIGHLIGHTS Can you tell us about yourself and your work as an inclusion expert? I got into special education by way of my own neurodivergence. I was diagnosed with ADHD in middle school, studied psychology as an undergrad and I started understanding myself better and fell in love with psychology and working with kids. I got my masters degree and began teaching, eventually becoming an inclusion specialist. I was also looking for ways to include my students in a variety of activities. My students excelled because of it, the school culture shifted and I began working with other teachers and administrators to improve inclusion practices. I have since branched off and became the Inclusive Educator.  What is the biggest misconception around inclusion? Inclusion isn't a program because true inclusion exists within your child's general education classroom- it's not a class they go to. If only certain students can be in an inclusion program, it isn't inclusive. Inclusion is an undeniable sense of belonging from the time a child walks into a classroom. It's a feeling of belonging and being valued and celebrated.  How does inclusion affect a general education student? A 2008 analysis of several studies found that inclusion had a neutral to positive impact on neurotypical students in 81% percent of studies. When there's an inclusive classroom and culture, all students are learning more. School districts doing a good job being inclusive reveals an increase of graduation rates. Inclusion impacts general education students in that they improve in academics, but they're also socializing with a reduced sense of fear, they generally have a stronger self esteem and better sense of self. What are your top tips for inclusion? Let your child lead because they will tell you one way or another when they're ready to participate more. As a parent, be intentional about making positive connections with the multidisciplinary team. If your child isn't being included, start slowly with focusing on what their interests are. LINKS & RESOURCES MENTIONED The Inclusive Educator Website https://www.theinclusiveeducator.com/ Connect with Bre on Instagram https://www.instagram.com/the_inclusive_educator/ 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 152 A Rare Collection - Underestimated 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 Ryan Sheedy, Dad to Reynolds When I think about the word underestimate, I think about an underdog. As a kid my favorite movie was Rudy, the story of Daniel Ruettiger, a young man determined to play football for the University of Notre Dame. Rudy was too small, didn't have the grades to go to college and he was dyslexic. Now that I'm a dad, I love this movie even more because my son Reynolds is a real-life Rudy. He was diagnosed with an ultra rare disease called Costello Syndrome at 18 months old. Reynolds has spent 103 days in the hospital, has undergone countless surgeries, his medical team consists of 30 doctors and with an ultra rare disease, he is incredibly complex and medically fragile.  Reynolds never quits, he inspires many and reminds me to never underestimate the power of determination.  Stephen Hager, Dad to Emma When we were pregnant with our daughter, we underestimated how she would completely define who I was. When a neurologist explained her condition to us and said she would only live a few more months, we underestimated how resilient she would be. We underestimated the bureaucratic red tape we would encounter to get equipment and services. When we got services, we underestimated how draining it would be to take her to therapy five days a week. I underestimated how hard this life would be and how often I would need support. I also underestimated how readily people would offer support.  Christopher Andrade, Dad to Logan My wife Katie and I are raising three children. I always knew I wanted children, but underestimated how much I would love them. I love my children fiercely. Logan was diagnosed with Noonan Syndrome at a year old. Regardless of his condition, he was still my perfect son and nothing would change that. It was a struggle to get through the six months after Logan's diagnosis. I underestimated how painful it would be to be a parent. I remember the day the oncologist told us our son had cancer. I underestimated how painful it is to watch our children hurt and struggle, enduring things they shouldn't have to. It was brutally hard. When it came to his heart surgery, I underestimated what it would be like to see him after and the journey to recovery. When I started advocating online, I underestimated the toll it would take on me. 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 - EPISODE 151 Rare Friends Forever - Hanging Out and Showing Some Love to Brene Brown with Katie Lloyd and Adam Johnson Adam "Dadvocate" Johnson and Katie Lloyd are on the podcast, joining me for a lighthearted chat about Brené Brown, a research professor who has spent the past two decades studying courage, vulnerability, shame, and empathy.  EPISODE HIGHLIGHTS Adam, what are some of your favorite quotes and why? One that stands out in terms of transitioning into the rare disease space is from Daring Greatly and says, "What we know matters, but who we are matters more." This was impactful to me because when rare disease happened and I was losing my career, transitioning into survival mode, I had to find myself again and remember that who I was mattered more.  Katie, can you share a quote that has impacted you? It's very scary to be vulnerable and it reminds me of the quote, "Tell the story of who you are with your whole heart." Last time I was on the podcast, I shared vulnerable thoughts and feelings and later worried about who would hear them. This quote reminds me that it's important to open up and share and that it helps others feel they're not alone. Brene talks a lot about shame and says, "Shame is the fear of disconnection." When we are vulnerable, especially talking about rare disease, we connect and we feel more open and less ashamed. LINKS & RESOURCES MENTIONED Episode 125 - A Very Rare and Very Real Adventure with DeSanto-Shinawi Syndrome Mom and Author of a Very Rare Adventure Katie Lloyd https://effieparks.com/podcast/episode-125-katie-lloyd Episode 052 - Adam Johnson - Rare Disease Dad on Mitochondrial Myopathy and Owning Your Story https://effieparks.com/podcast/episode-052-adam-johnson-mitochondrial-myopathy Brené Brown, TEDxHouston: The power of vulnerability https://www.ted.com/talks/brene_brown_the_power_of_vulnerability Dare to Lead https://brenebrown.com/book/dare-to-lead/ Atlas of the Heart https://brenebrown.com/book/atlas-of-the-heart/ Brené Brown: Atlas Of The Heart on HBO Max https://www.hbomax.com/series/urn:hbo:series:GYivWaAXEZMLDwwEAAACz Daring Greatly: How the Courage to Be Vulnerable Transforms the Way We Live, Love, Parent, and Lead https://www.amazon.com/Daring-Greatly-Courage-Vulnerable-Transforms/dp/1592408419 Parents As Rare Podcast https://rarediseasedad.com/parents-as-rare-my-pod A Very Rare Adventure Blog https://averyrareadventure.com/ The Imaginary Dad Podcast on YouTube https://www.youtube.com/channel/UCxSX6fMdpfcruG_Tt3JJ0TQ/featured 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 150 Rare Disease Families Have Plenty of Hope - They Need Help with Drug Development with NF2 Biosolutions Found - Nicole Henwood and Vibe Bio Co-Founder Alok Tayi Alok Tayi is a seasoned scientist and co-founder of Vibe Bio. Alok started Vibe Bio because the biggest obstacle in treating patients with overlooked diseases isn’t finding potential treatments — it’s funding them. Together we speak with Nicole Henwood, a rare mother, physician and president of NF2 Biosolutions, partnering with Vibe Bio to create Merlin Therapeutics, one of the first biotechs leveraging crypto's economic and coordination tools to fund research and drug development. EPISODE HIGHLIGHTS Nicole, can you introduce yourself?  I am a physician and my 11 year-old son AJ was diagnosed with neurofibromatosis type two (NF2) when he was 6 years old. I realized very quickly that what was available for treatment was not what I wanted to be available for my son. I founded a 501c3 charity called NF2 BioSolutions, focused on accelerating gene therapy research for NF2. Alok, can you introduce yourself?  Last year my daughter was born very sick and spent a long time suffering in the hospital. The condition she has is common and the biology behind it is well understood, but there were no therapeutic options available to her. That’s what motivated me to create Vibe Bio, which will give patients more ownership over the drug development process and a community to support them along the way.  Vibe Bio is considered a DAO, what does this mean?  A decentralized autonomous organization (DAO) is a digital collective of individuals focused on a common mission, and the actions of this collective are mediated by voting and governance through a token that we all hold. Vibe Bio is building a community of patients, scientists and partners to help identify and vet potential treatments in the rare disease space. We then actually fund the drug development activities from those programs using cryptocurrency token sales.  Can you tell us about your partnership between NF2 Biosolutions and Vibe Bio?  We’re excited to announce two partnerships with NF2 Biosolutions and Chelsea’s Hope, which are focused on NF2 and Lafora. These patient groups have developed a community of patients, caregivers and scientific leaders in the space. The challenge is that they’re able to show that medicines work in a pre-clinical context, but they lack the capital to get them into a clinical trial. There’s a lot of excitement around the work that we’re doing because we’re hoping to show how the patient and community driven model allows us to advance medicines and unlock the development of candidate treatments. LINKS & RESOURCES MENTIONED Global Genes Patient Advocacy Summit https://globalgenes.org/event/rare-patient-advocacy-summit/ Vibe Bio https://www.vibebio.com/ NF2 Biosolutions https://nf2biosolutions.org/ Merlin Therapeutics https://merlintherapeutics.com Chelsea’s Hope https://chelseashope.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/ Once Upon a Gene TV https://www.thedisordercollection.com/

ONCE UPON A GENE - EPISODE 149 Together We Can Cure Single-Gene Disorders Starting with PGAP3 - Moonshot - An Ambitious and Innovative Project with Geri and Zach Landman Zachary and Geri Landman are the parents of Lucy, who was born with PGAP3 during the pandemic. They're brilliant and driven, seeking treatments through their nonprofit, Moonshot for Unicorns.  EPISODE HIGHLIGHTS Can you share a little bit about Lucy? Lucy is our adorable 14 month old daughter, born during the pandemic. Initially she was growing and developing like our two older daughters. When we began introducing food in a baby chair, Lucy would slump over. We weren't too concerned, but our pediatrician later referred us to a neurologist who recommended physical therapy. Lucy later underwent MRIs, a nerve conduction study, EEG to look for seizures and a spinal tap to look for potential infections or neurotransmitter deficiencies. After a final genetic test returned results, we were notified that Lucy had two bad copies of her PGAP3 gene. Because it was an ultra-rare diagnosis, there were no treatments, no therapies and no research around potential clinical trials.  What inspired you to start Moonshot for Unicorns? We didn't want any rare disease parents to go to bed the night of their diagnosis feeling the way we did- that there were no treatments and cures. A week after Lucy was diagnosed, we went into action mode, read every scientific paper available, emailed every author of every paper, learned all the details we could and started making connections with other families. We started Moonshot for Unicorns with a focus on PGAP3, but the goal is to develop therapies for the other single gene disorders that don't currently have treatments. Today, gene therapy is underway for PGAP3 and we're also doing drug repurposing work.  What has been your experience with drug repurposing so far? The labs are independent companies, some academic and some for profit, and you put your experiment in the queue and they give you a cost and timelines, which can vary and stretch out over months. We were told it could be up to 9 months until the lab would get to our experiment, so we started exploring the idea of a pop up lab. Going this route has given us a hands-on ability, we get regular updates and the possibilities are endless. LINKS & RESOURCES MENTIONED Moonshots for Unicorns https://www.moonshotsforunicorns.org/ @lucythepgap3goose on Instagram https://www.instagram.com/lucythepgap3goose/ Little Zebra Fund https://littlezebrafund.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/ Once Upon a Gene TV https://www.thedisordercollection.com/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 148 Rare Disease Siblings, The Glass House Children - Bulletproof and Shattered - With SMA Sibling Cara Freedman August is Spinal Muscular Atrophy (SMA) Awareness Month and sibling Cara Freedman joins me to discuss her experience growing up with her older brother Jack. EPISODE HIGHLIGHTS Can you tell us about your family? I'm 22 years old and just graduated college with a degree in biochemistry and molecular biology. My older brother passed away in October from SMA Type 1. He was wonderful, always had a smile on his face and acted like he didn't have a care in the world.  What was it like to be the sibling to Jack growing up? Before I went to school, I didn't know that having a brother like Jack was out of the norm. Attending school changed everything when I realized my peers noticed Jack in a way I hadn't before. It made me feel different and I isolated myself for a bit. If 22 year old me went back to elementary school, I'd do something and stand up for myself. I treated Jack like a normal older brother, he teased me, I ignored him, he'd run me over with his wheelchair, and we did the typical sibling things.  What helped you cope when you were growing up? When I met people, it helped me feel normal to withhold that I had a brother with a rare disorder so they could get to know me first. It helped me to gain power back. I also spent a lot of time by myself, learning who I was and learning that I didn't rely heavily on anyone else.  What boundaries did you have growing up to protect your mental health? Something that helped was accepting that it was okay to want to get away to be alone and separate myself from chaos. It was also common for me to reserve medical talk for only when it was necessary. I did my best to remind myself that it was okay not to fit into a sibling mold and feel what I needed to feel. What effect has growing up with Jack had on you as an adult? I gained patience for myself and others and empathy through caring for other people. I find myself to be an empath and feel a lot of what other people feel, mostly because I could never feel what Jack and I always want to get into other people's shoes and understand who they are. I still care too much about what others think about me. LINKS & RESOURCES MENTIONED Global Genes Patient Advocacy Summit https://globalgenes.org/event/rare-patient-advocacy-summit/ Episode 090 - Mental Health and chronic stress with Rare Disease Dad and Psychologist Al Freedman, Ph.D https://www.bloodstreammedia.com/once-upon-a-gene-episodes/episode-090-mental-health-and-chronic-stress-with-rare-disease-dad-and-psychologist-al-freedman-phd NORD https://rarediseases.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/ Once Upon a Gene TV https://www.thedisordercollection.com/

ONCE UPON A GENE - EPISODE 147 A Rare Collection - Easier Said Than Done 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 Katie Stevens, Executive Director of Team Telomere It's back to school season which has me thinking about how the education system so often fails the most vulnerable children. In 2015, we moved from Idaho to Boston. My son was set to be the sixth patient in the world to undergo a clinical trial for people with Telomere Biology Disorders. We had been searching for the best treatment for my son for years. His body was no longer able to fight viruses and infections, he couldn't stop bleeding and he didn't have enough red blood cells to keep him from feeling easily winded. He was a 12 year old boy whose day-to-day was filled with worry and he just wanted to be "normal". Getting your child an education when critically ill or disabled is easier said than done. I'm thankful for the teachers that stood up for my child. Education for the most vulnerable children of our society shouldn't be dismissed.  Parvathy Krishnan, Foundation Alliance Manager at Global Genes As a child I was always told nothing was impossible and everything would be okay if I saw the positive. I truly believed the ups and downs of life were part of the journey and I just had to see the positive. When I had my first child, I had my parenting journey mapped out and anticipated ups and downs. It was instead filled with potholes, car crashes and train wrecks. It was hard to see the positive when everything seemed bleak. Through our diagnostic odyssey, and through various aggressive treatments taking place concurrently for both of my children, it was hard to find the positive and I felt like I was failing. Hope was a mirage. I felt a medical breakthrough was the only positive that would give me closure. But I was wrong. A smile from my children was the positive I needed. While it's easier said than done to find the positive, even when it feels impossible, remember to turn on the light and hope that this too shall pass.  Becky Tilley, Koolen De Vries Syndrome I'm a passionate writer and advocate. In all the articles and blogs I've written, you'll see the common sentiment to celebrate your uniqueness, be yourself, and enjoy being you. In real life, that's challenging to do. The symptoms of Koolen De Vries Syndrome that myself and my two youngest children share can vary from mild, to moderate, to severe. I grew up with learning disabilities. I was an easy target for bullies. I never learned what it was to love and celebrate what made me different and this is something I want for my children. I want them to be empowered in who they are. For them to do that, I need to be an example, especially as a mom that shares the same syndrome. I feel a responsibility to them to celebrate being unique and inspire my children to do the same. 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 145 Ensuring that the Patient and Caregiver Voice are Part of Clinical Trial Design and Engagement - Bridging the Gap with Industry with Shazia Ahmad Shazia Ahmad is the Senior Director and Head of Patient and Physician Services at UBC. She earned a BS in psychology and neurobiology from the University of Maryland and has over 20 years of experience in the therapeutic development industry.  EPISODE HIGHLIGHTS Can you talk about your work designing clinical trials? I started my career at the NIH as a Research Coordinator and that's where my work in rare diseases and infectious disease started. I worked closely with patients, parents, caregivers, and care partners. At UBC I've been involved in heading up the patient services division which handles patient advocacy and stakeholder engagement. What invigorates my passion for the rare disease space is my own personal journey. I have a daughter with Kawasaki disease (KD). Because we received a diagnosis in a timely way before going into phase two of KD, we were able to get treatment for her to recover completely. It left a mark on me in my career moving forward to focus on integrating advocacy and understanding the patient journey, and the impact on the families in any program that I would support in healthcare moving forward.  Why should families seek out clinical trials? I think it's so important for families to understand the impact that their participation could make in participating in clinical trials because it's hope and a possible treatment. But most importantly, it's helping the overall patient community for that particular diagnosis, which is huge and it's critical.  What transformational changes are you seeing around designing trials and gathering a more diverse population?  As I work on clinical trials, I'm seeing more advocacy organizations partnering with the industry and making an impact early on. I'm also seeing a lot of the new technologies coming out for improving diagnosis, creating more communication, education and awareness about rare diseases in general, not just clinical trials. There's a lot of good collaboration going on within patient communities.  What are the gaps with industry right now and how do we bridge that with advocacy?  Industry is starting to do a better job in understanding the journey and bringing that into design and implementation. What often happens is they complete the clinical trial and sometimes that awareness and continuous conversation with that patient community is not ongoing. We need more community building within industry to keep those communities engaged and there are gaps there. We also need more sponsors to work together. There's so much that we could do if we really conquer some of these rare diseases together and come together as a community to create a bridge where we can learn from each other.  LINKS & RESOURCES MENTIONED Global Genes Patient Advocacy Summit https://globalgenes.org/event/rare-patient-advocacy-summit/ UBC https://ubc.com/ Shazia Ahmad - Linkedin https://www.linkedin.com/in/shaziakahmad 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 144 Summer Surfing - Get On Top of the IEP Wave - Things You Can Do This Summer to Make Next Year Better with Gay Grossman Gay Grossman is the co-founder of ADCY5.org and she's a mom to her 25 year old daughter Lilly who lives with a rare disease. She's been an advocate for everyone in the rare disease community for over 20 years. She shares her knowledge with us about IEP's and how to be the fiercest, most equipped advocates we can be. EPISODE HIGHLIGHTS What is the difference between 504 and IEP? A 504 is the plan utilized to help kids that may need adaptations or accommodations in the classroom. An IEP is a federal document that has to be followed by school districts that provides individual support to a single child. An IEP is changed yearly and often to ensure a child has the accommodations needed to access their education.  How can parents prepare for and restructure IEP meetings?  Several people will be there and the first step is generally to go around the room reading reports about a child's diagnosis and challenges. Ahead of the meeting, request that all reports are provided a week before the meeting so you can create an agenda. Read the reports at home and create an agenda that begins with an overview of top needs and how to meet those needs.  Who writes an IEP and what should parents know about it? The IEP is written by the school. Take the IEP home, review it and ensure you understand it before you sign it. An IEP is a legal contract, so it's important to document, take good notes, communicate through email, and cover yourself. You can call an IEP meeting any time of year, but avoid the end of the school year to maximize time and attention. It's okay to hire an advocate or attorney or invite a friend to be in attendance at the meetings.  What advice do you have for parents going into their first IEP? If a goal doesn't seem measurable, it's not a goal you care about, or it's not a goal your child strives for, make a new goal. Focus on highlighting goals that are helpful so you can change goals that aren't helpful. Request a meeting with the school, visit the classroom to familiarize yourself, ensure the goals that you've prioritized are obtainable.  LINKS & RESOURCES MENTIONED Global Genes Patient Advocacy Summit https://globalgenes.org/event/rare-patient-advocacy-summit/ Individuals with Disabilities Education Act (IDEA) https://sites.ed.gov/idea/ ADCY5.org https://www.adcy5.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/ Once Upon a Gene TV https://www.thedisordercollection.com/

ONCE UPON A GENE - EPISODE 148 A Rare Collection - I Will Never Forget 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 Elli Brimble As a researcher and genetic counselor, I work behind the scenes to help families craft their own stories. I met Nasha Fitter in 2016 when her daughter developed infantile spasms during a family vacation, resulting in an emergency flight home and hospitalization. The response to treatment was immediate, but an epilepsy gene panel result revealed that the spasms were caused by a change in one copy of the FOXG1 gene. Weeks later, Nasha and I would start corresponding about what resulted in a foundation dedicated to funding science and research for FOXG1 syndrome. Nasha quickly became an expert in biology, clinical trial readiness, drug development and fundraising. Today, Nasha and I work as partners, championing the product we built through this shared experience and all the ones that came after.  Kira Dineen As a graduate student, studying to become a genetic counselor, I met a couple I will never forget that widened my perspective on rare diseases. In a prenatal setting, we're reviewing family health history and the mother of that baby shares that her biological niece has a rare disorder. The mother wanted to test her baby for the rare disorder her niece had and the father didn't want to do testing during pregnancy. The father highlighted how much joy the niece brought to the family and that he would want to have a child with the same disorder. As a student, it was a turning point to talk to someone who had such a positive and rewarding relationship with someone with a rare disease. I want to see more celebrations of rare diseases like this couple shared with me. Abigail Turnwald I'll never forget receiving the first positive genetic test result during graduate school. Just as the parents, I really hoped it would be negative and when I saw the positive result, my heart sank. I dialed their phone number, listened to the rings and hoped they didn't answer because I didn't want to deliver the news. I practiced what to say to make sure I had the words just right. I learned in graduate school that when you give a diagnosis, families will remember the words you said forever. This was the first diagnosis I gave and I will never forget. Some days I still think of the family and wonder if I said the right words and what would have made receiving the news easier. I know when I deliver a diagnosis, lives are forever changed and parents will never forget that moment, and neither will I. 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/

Intro music by Scott Holmes

ONCE UPON A GENE - EPISODE 142 Half of the Day She's a Diversity Champion, the Other Half a Rare Disease Mom and Caregiver with Yosr Hamza Yosr Hamza is a lawyer, caregiver, and mom and she joins us to talk about what it's like to be a parent to a child with a rare disease in the Middle East, where rare disease isn't as accepted or normalized.  EPISODE HIGHLIGHTS How have you navigated having a child with a rare disease and discovered your powerful voice to embrace your child? For an entire year, I didn't share my secret that my son had a rare disease outside of my family.  I was my own judge and was scared of anyone judging my capability to work and manage everything. I had to embrace it on my own first before I could grow stronger and move past wanting to hide something that makes me who I am. I now see it from the perspective that if someone can't embrace it, that's on them, not me. I wouldn't be able to embrace my own diversity and be my most authentic self without going through what I have with my child and his journey.  What tools and resources helped you to move through the initial emotions after your child was born? One thing I've learned through my journey is to really feel every feeling. I no longer fight back sadness, when I'm down, when I can't do something. It can take a day or two sometimes, but the importance is recognizing when I need to take a break and take time to care for myself. If you're not okay, you can't care for anyone else. I learned that I don't delegate well, but I eventually learned to recognize who was around me, willing to support me and I prepared ideas of things I was able to delegate. It's also been important for me to keep an open mind and not decide in advance what my journey should look like. Being very career oriented, having a plan for myself, it was difficult to realize that I no longer need to win, but I just have to stay in the race.  As a caregiver, what are your goals for yourself and your child? I hope to have a space for caregivers and children like my son in my region. It's unfortunate that there are no resources and we have to fight for everything. There are no nurseries or schools and it creates a need for support. The help and resources are not here and the government isn't investing in it. I'm being vocal about this to hopefully inspire other parents to speak out. I hope by sharing my story, I can connect with someone who can help me make a change and create a voice for caregivers.  LINKS & RESOURCES MENTIONED Global Genes Patient Advocacy Summit https://globalgenes.org/event/rare-patient-advocacy-summit/ Mejo https://www.mymejo.com/ The Caregiver Lawyer on Instagram https://www.instagram.com/thecaregiverlawyer/channel/?hl=en 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/

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/

Intro music by Scott Holmes

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/

Intro music by Scott Holmes

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/

Intro music by Scott Holmes

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/

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/

Intro music by Scott Holmes

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/

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

Intro music by Scott Holmes

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/

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/

Intro music by Scott Holmes