As a new parent of a child with a rare genetic syndrome, I was lost. There was no guide. There was no rulebook. This was not what I had imagined. As I navigated my way through this new reality, I realized something that should have been simple, but was not. A truth that had always been there, but that I had lost sight of for a time - I am not alone. And neither are you. These are the stories of my family, and of families like ours. These are the stories of how we have persevered, cried, bonded, and grown. These are the stories of children who have been told that they cannot, and that have proved the world wrong.
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Données mises à jour le 04/07/2026
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Smarter Speech: How Q-Voice Is Changing AAC for Families and Therapists with Lana Marcucio
vendredi 24 octobre 2025 • Durée 42:56
Lana is a mom, software developer, and fierce advocate who created Q-Voice, an AAC system built out of love, frustration, and deep understanding. When her daughter Quinn struggled to connect through traditional speech apps, Lana and her husband decided to build something better—something intuitive, visual, and human.
In this episode, we talk about:
The real-life limitations of traditional AAC systems
How Q-Voice uses GIFs, emojis, and real-world icons to keep learners engaged
Built-in data tracking that actually helps shape speech goals
The AI feature that speeds up sentence formation and keeps communication flowing
Why parent involvement and design simplicity are key to AAC success
Whether you’re a parent, SLP, or educator, this episode is full of hope and practical inspiration for making communication easier—and more fun—for everyone.
Learn more or try Q-Voice: qvoice.app
Follow Lana on Instagram: https://www.instagram.com/tigerishmom/
Follow Q-Voice on Instagram: https://www.instagram.com/qvoice.app/
Why Genetic Testing Matters: The Case for Genetic Testing and the Start Genetic Movement - with Geraldine Bliss
jeudi 16 octobre 2025 • Durée 46:37
In this episode of Once Upon a Gene, host Effie Parks welcomes Geraldine Bliss — rare mom, co-founder of CureSHANK, and the powerhouse behind Start Genetic, a new movement empowering families to take control of their genetic testing journey.
Geraldine shares her decades-long experience as mom to Charles, a 27-year-old living with Phelan-McDermid syndrome, and how one test unlocked a world of understanding, care, and connection. Together, Effie and Geraldine dig into the real-world impact of genetic testing — what to ask for, when to push for answers, and how knowing the cause changes everything.
They cover:
🧬 When and how to pursue genetic testing or re-testing
🧩 How a diagnosis can transform care, support, and research
🚫 Common myths and roadblocks that stop families from getting tested
🧠 Why “not knowing” limits treatment options — and what to do about it
💪 Action steps and resources you can use today
Effie and Geraldine leave listeners with a clear message: You don’t have to wait for the system to hand you answers. You can start genetic.
✨ Resources Mentioned:
Start Genetic
CureSHANK
Phelan-McDermid Syndrome Foundation
💬 Quote from the Episode:
“Getting a diagnosis doesn’t change who your child is — it changes what you can do for them.” — Geraldine Bliss
Mini Brains in a Dish: Organoids and the Future of Personalized Rare Disease Medicine
jeudi 2 octobre 2025 • Durée 38:28
In this episode of Once Upon a Gene, Effie sits down with Dr. Maya Gosztyla
from Brainstorm Therapeutics to explore one of the most exciting frontiers in rare disease research - organoids. These “mini brains in a dish” are clusters of real human brain cells grown from a child’s stem cells. They’re giving researchers and families new ways to study disease, test drugs, and imagine personalized treatments.
Effie and Maya talk about:
What organoids are and why they matter for rare diseases
How organoids could replace traditional mouse models, speeding research while reducing reliance on animal studies
The potential for organoids to accelerate drug development and get treatments to clinical trials faster
How these tiny models might unlock personalized medicine, tailored to each child’s unique mutation
Why this shift from “watching and waiting” to testing and acting could be transformative for families
Maya brings not only her scientific brilliance but also her heart and connection to the rare disease mission. This conversation will expand your sense of what’s possible for the future of research, treatment, and hope for our kids.
Healing in the Mess: Storytelling, Friendship & Finding Love - Author of The Unlikely Village of Eden, Emma Nadler
jeudi 4 septembre 2025 • Durée 53:58
This episode of Once Upon a Gene is a little like a cafeteria tray - pick what feeds you and leave what doesn't.
Chatting with the zesty, vivacious, and wildly insightful Emma Nadler - psychotherapist, author of The Unlikely Village of Eden, rare mom, and truth teller. Emma has a way of cracking you open with honesty and tenderness, then making you laugh through the tears.
We talk about:
How storytelling helps us heal and connect
Grief, Joy, Love - all living side by side
The long-haul reality of caregiving and what it takes to keep going
Friendship, community, and the absurdities that keep us human
Finding meaning when life reroutes in unexpected ways
Emma’s memoir, The Unlikely Village of Eden, is one of those rare books that’s both heart-shattering and heart-rebuilding, leaving you changed in the best way.
📚 Grab Emma’s book📝 Follow her writing on Substack.
📝 Follow her on Instagram
15 Years of Simons Searchlight: Dr. Wendy Chung on How Families Shape Rare Disease Research and Spark Aha Moments - with Wendy Chung
jeudi 28 août 2025 • Durée 23:46
In this conversation, Wendy Chung discusses the evolution of understanding genetic conditions, particularly in relation to autism, and the role of Simons Searchlight in patient advocacy. She emphasizes the importance of community support, global inclusion, and the hope for future therapies. The conversation highlights the significance of family connections and the collective effort in advancing research and treatment options for neurodevelopmental disorders.takeaways
The understanding of autism has evolved significantly over the years.
Community support is crucial for families dealing with genetic conditions.
Simon's Searchlight aims to leverage collective knowledge for better outcomes.
Language equity is essential for global participation in research.
The importance of early detection and intervention cannot be overstated.
Families play a vital role in providing feedback for research.
The future of treatments looks promising with ongoing research.
Building a supportive community can lead to better advocacy for children.
The collaboration among researchers worldwide enhances the potential for breakthroughs.
Celebrating milestones like 15 years of Simons Searchlight fosters hope and motivation
A Rare Collection - Rare Disease Storytelling with Kyle Bryant, Jennifer Siedman, Liz Morris and Ashley Fortney Point
jeudi 12 juin 2025 • Durée 24:32
ONCE UPON A GENE - EPISODE 100
A Rare Collection- Because of You with Kyle Bryant, Jennifer Siedman, Liz Morris, and Ashley Fortney Point
There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. Kyle Bryant, Jennifer Sideman, Liz Morris, and Ashley Fortney Point share stories of rare disease.
EPISODE HIGHLIGHTS
Kyle Bryant, Living with Friedreich’s Ataxia
Kyle was diagnosed with Friedreich’s Ataxia at age 17. It's a disease that affects balance and coordination and has symptoms of scoliosis, vision loss, hearing loss and life-shortening heart complications. At the time he was diagnosed, he ignored that his future would be much different than what he'd imagined. After a few years, he wanted to take a cross-country bike ride. Kyle reads a page from his book about how he convinced his parents to join him.
Jennifer Siedman, Mother to Ben
Jennifer loved a little boy with a rare disease called Sanfilippo Syndrome. That boy graced this Earth for 17 years with a big lion roar of a laugh and a gentle heart. He loved farms, tractors, baseball and chocolate donuts. His quiet determination convinced a researcher to pursue a treatment and because of it, there are other children today with Sanfilippo Syndrome who's future might look different than his. Jennifer knows who she is today because she was Ben's mother. Jennifer shares a story of her mother-in-law who, through her own determination, modeled the skills she would need to be the best mother and advocate she could be to Ben.
Liz Morris, Mother to Colson
The Pacific Northwest is abundantly beautiful. Seattle's true appeal is in it's wild spaces. Carkeek Park in northern Seattle is one of Liz's favorites with organic healing powers she needs. Trails lead through the lush woods, there's an expansive shoreline with built-in driftwood seating and open green hills overlooking the sea and mountains. Liz and her husband sat on the beach at Carkeek Park on a hazy August evening in 2016 and talked of their future. They talked of the future they wanted for their future child, which Liz was six months pregnant with. Colson was born in October 2016. He was impacted by mitochondrial disease, a genetic disorder that compromised his body's ability to turn food into energy. Liz shares a story of living with enough.
Ashley Fortney, Mother to Davis
In 2014, Ashley welcomed her son Davis into the world after a difficult pregnancy filled with many hospitalizations and much worry. From the start, the doctors thought there might be something different about Davis. Davis was diagnosed with Koolen-de Vries syndrome at age 7, but he's continued to grow, learn and prove that nothing can stop him. Ashley shares all the ways that Davis has helped the family grow and find support from others in the community and all the ways he makes the world a better place.
TUNE INTO THE ONCE UPON A GENE PODCAST
Spotify
https://open.spotify.com/show/5Htr9lt5vXGG3ac6enxLQ7
Apple Podcasts
https://podcasts.apple.com/us/podcast/once-upon-a-gene/id1485249347
Stitcher
https://www.stitcher.com/podcast/once-upon-a-gene
Overcast
https://overcast.fm/itunes1485249347/once-upon-a-gene
CONNECT WITH EFFIE PARKS
Website
https://effieparks.com/
Twitter
https://twitter.com/OnceUponAGene
Instagram
https://www.instagram.com/onceuponagene.podcast/?hl=en
Built Ford Tough Facebook Group
https://www.facebook.com/groups/1877643259173346/
Finding Joy in the Journey: A Guide for Parents of Medically Complex Kids with Amber Pierson & Chelsea Kuhn
jeudi 5 juin 2025 • Durée 42:47
Discount Code for 20% off: ONCEUPONAGENE
Chelsea and Amber of Lemon Cake—two fellow rare moms on a mission—pop in to remind you that even when seizures, meltdowns, and endless therapies feel like they’re winning, there’s still room for belly laughs, tiny victories, and yes, a slice of cake. I had so much fun chatting with these bright lights as they shared how a spontaneous Instagram Live turned into a lifeline for parents of medically complex kids. They unpacked those “garage-floor” prayers, served up bite-sized self-care hacks and showed us how to keep carving out joy in the thick of it.
Their brand-new 57-page e-book, "Finding Joy in the Journey", is bursting with real-life stories, practical worksheets (including a simple medical binder template), and reminders that you’re never alone. Grab your copy at makinglemoncake.com and use code ONCEUPONAGENE for 20 % off—because we all deserve a little extra sweetness in our day. You can also find them on Instagram at https://www.instagram.com/makinglemoncake/ to join the Cake Pop community, soak up their bright energy, and maybe one day snag that killer lemon cake recipe. These women are lifting others in the thick of it, and I’m here for every ounce of their glow.
From Beast Games Champ to Rare Disease Warrior: Jeff Allen’s 365-Mile Ruck for His Son’s Creatine Transporter Deficiency
jeudi 15 mai 2025 • Durée 33:12
In this episode, Jeffrey Allen, a passionate advocate for rare disease awareness and a dedicated father to Lucas, who has creatine transporter deficiency.
(CTD is also referred to as SLC6A8 Deficiency, CRTR, and X-linked Creatine Transporter Deficiency.Mutations in the SLC6A8 gene result in CTD.While patients with CTD have the necessary AGAT and GAMT enzymes to form creatine, the creatine transporter does not function properly. This results in creatine in the bloodstream, but not in the brain and muscles.)
Jeffrey shares his journey of parenting a child with a rare disease, the life lessons he has learned from Lucas, and his experiences participating in the Ruck for Rare and the Beast Games. He emphasizes the importance of community support, advocacy, and the beauty found in challenges. The conversation highlights the significance of genetic testing and awareness for rare diseases, as well as the need for connection and communication among parents in similar situations.
GeneDx Launches Cerebral Palsy Genetic Testing Pillar & Discover Snapshot: For Deeper Insights and to Help You Grow Your Patient Community – with Gay Grossman
jeudi 1 mai 2025 • Durée 32:49
In this episode of Once Upon a Gene, I’m joined again by rare mom and powerhouse advocate Gay Grossman. Gay works at GeneDx—home to one of the largest clinical genomic databases—and she’s here to share two exciting updates that could change everything for rare families and patient advocacy orgs.
We talk about:
GeneDx’s new commitment to the cerebral palsy community and why every CP diagnosis deserves a genetic test
How families can access exome and genome testing through telehealth
The launch of the Discover Snapshot, a tool designed to help rare orgs find, understand, and grow their communities using real genomic data
We also dive into why many CP, autism, and epilepsy diagnoses are just the beginning—and how getting to the root cause can open doors to treatments, clinical trials, and life-changing connection.
🔗 Resources & Links:
Request your Patient Count or Discover Snapshot: advocacy@genedx.com
Learn more about genetic testing and CP: GeneDx.com
Access testing through Genome Medical: Genome Medical
Key Topics:
Genetic testing access and equity
Ending the diagnostic odyssey for CP
Empowering patient advocacy orgs with data
How to use genetic diagnoses to unlock treatment options
The power of community and connection
Empowered Kids - Painless Labs :O'Ryan Health’s At‑Home Blood‑Draw Revolution with Tim Coleman
vendredi 18 avril 2025 • Durée 34:00
Turning Kids into Superheroes of Science with O’Ryan Health
The world of pediatric autoimmune and rare diseases can feel isolating—especially when answers live behind hospital walls or research centers far from home. But what if science came to you? What if kids could lead the charge in reimagining care?
In this episode, I’m joined by Dr. Tim Coleman, co-founder and COO of O’Ryan Health, a company flipping the script on pediatric research. Their breakthrough Artemis Platform is a child-friendly, at-home blood collection and logistics system that supports autoimmune, rare disease, and routine lab testing—making it possible for families to contribute to science and receive care without ever stepping into a hospital or lab.
Tim and his team are building something extraordinary: a world where kids become superhero scientists, collecting blood samples at home with a virtually painless device, and helping unlock breakthroughs in real time.
Inspired from the lived experience of co-founder Michael Parnell, whose daughter battles juvenile myositis, O’Ryan Health isn’t just a company—it’s a movement, empowering families to drive discovery and rewrite the future of pediatric healthcare.
We talk about:
Why families should lead—not follow—in pediatric research
How at-home blood sampling could power new diagnostics, treatments, and even cures
The vision of a future where all pediatric blood work happens at home
If you’ve ever dreamed of a healthcare system that sees, hears, and respects your child—this conversation is for you.
Learn more and become a superhero family at oryan.health
Follow along on Instagram: @oryan.health
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