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Once Upon A Gene

Once Upon A Gene

True stories of raising rare kiddos

Latest From Series

The Critical Role of Newborn Screening – Rare Mom Alison Breitbarth and Infantile Pompe Disease

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

The Unique Expertise of a Genetic Counselor – Helping Rare Disease Individuals and Families Navigate Through Complex Emotions and Circumstances Like Guilt, Grief, and Shame with Mary-Francis Garber

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

Effisode – I Don't Like That

Intro music by Scott Holmes
May 3, 2022

Rare Disease Caregiving Post Childhood with Rare Mom and Primary Ciliary Dyskinesia Advocate Karen McEwen

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

Kelley Coleman – Author of You will Feel Better – A Guidebook for Rare Disease Parents

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

Effisode – Gimme a Break, Spring Break

Intro music by Scott Holmes
April 19, 2022

Once Upon A Gene

This is a space I created to share the stories of our not so typical lives. Raising kids who are born with rare genetic syndromes and other types of disabilities can feel pretty isolating. What I know for sure is that when we can find others who 'get it,' we can find a lot more laughter, a lot more hope and feel a lot less alone.
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Host

Effie Parks

Effie Parks

Effie Parks was born in the magical land of Montana, where she was raised with her 12 loving siblings. After moving to Washington and marrying her husband, they were blessed with the birth of their son, Ford Canon Parks. When she learned that Ford had been born with an extremely rare genetic condition – CTNNB1 syndrome – she dove into the world of advocacy. Now, she is the host of her own podcast, Once Upon a Gene, where she speaks to others about their journey through life with rare disease.

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