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Once Upon A Gene
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.
Smarter Speech: How Q-Voice Is Changing AAC for Families and Therapists with Lana Marcucio
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 syst...
Why Genetic Testing Matters: The Case for Genetic Testing and the Start Genetic Movement - with Geraldine Bliss
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 under...
Mini Brains in a Dish: Organoids and the Future of Personalized Rare Disease Medicine
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 treat...
Healing in the Mess: Storytelling, Friendship & Finding Love - Author of The Unlikely Village of Eden, Emma Nadler
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 story...
15 Years of Simons Searchlight: Dr. Wendy Chung on How Families Shape Rare Disease Research and Spark Aha Moments - with Wendy Chung
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 re...
A Rare Collection - Rare Disease Storytelling with Kyle Bryant, Jennifer Siedman, Liz Morris and Ashley Fortney Point
ONCE UPON A GENE - EPISODE 100 A Rare Collection- Because of You with Kyle Bryant, Jennifer Siedman, Liz Morris, and Ashley Fortney Point There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community, sharing a story with a common theme. Kyle Bryant, Jennifer Sideman, Liz Morris, and Ashley Fortney Point ...
Finding Joy in the Journey: A Guide for Parents of Medically Complex Kids with Amber Pierson & Chelsea Kuhn
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 i...
From Beast Games Champ to Rare Disease Warrior: Jeff Allen’s 365-Mile Ruck for His Son’s Creatine Transporter Deficiency
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 transpor...
GeneDx Launches Cerebral Palsy Genetic Testing Pillar & Discover Snapshot: For Deeper Insights and to Help You Grow Your Patient Community – with Gay Grossman
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 deser...