Once Upon A Gene

• 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 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: [email protected] 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

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• Empowered Kids - Painless Labs :O'Ryan Health’s At‑Home Blood‑Draw Revolution with Tim Coleman

  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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• Navigating the Complexities of Grief: How One Mother’s Grief Birthed a Supportive Community with, Heather Straughter.

  In this heartfelt conversation, Heather Straughter shares her profound journey through grief after the loss of her son, Jake. She discusses the pivotal moments that shaped her path, the importance of community support, and the ongoing nature of grief. Heather reflects on the complexities of acknowledging loss, the unexpected triggers that can arise, and her evolving perspective on grief hierarchies. Through her experiences, she emphasizes the significance of finding one's own way to cope and the power of humor in navigating the dark moments of grief. In this conversation, Heather Straughter shares her personal journey through grief after the loss of her son, Jake. She discusses societal expectations surrounding grief, the dual nature of grief as both painful and transformative, and the importance of community support. Heather also talks about the creation of her podcast, 'A Place of Yes,' aimed at sharing stories of families dealing with similar challenges, and her mission to help families navigate the complexities of caring for children with special needs. The conversation emphasizes the need for compassion, understanding, and proactive support for grieving families. Follow: Jake's Help From Heaven A Place Of Yes Podcast on Instagram Chapters 00:00 Introduction and Personal Connection 01:41 The Impact of Grief on Life Choices 02:50 Navigating Grief and Community Support 08:21 The Ongoing Nature of Grief 10:33 The Complexity of Grief and Acknowledgment 12:26 Triggers and Unexpected Moments of Grief 15:59 The Hierarchy of Grief 18:23 Coping Mechanisms and Humor in Grief 22:09 The Dark Side of Grief 24:22 Unspoken Aspects of Grief 26:07 Finding Your Own Path in Grief 29:20 Navigating Grief: Societal Expectations and Personal Experiences 32:43 The Dual Nature of Grief: Pain and Growth 36:47 Creating a Supportive Community: The Birth of a Podcast 42:06 Expanding the Mission: Helping Families Beyond Local Boundaries 54:16 Words of Comfort: Supporting Grieving Families

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• Reimagining Pediatric Healthcare: How Imagine Pediatrics is Revolutionizing In-Home Medical Care for Medically Complex Kids and Lightening the Load for Families - Taylor Beery and Jody Copp

  Reimagining Pediatric Care with Imagine Pediatrics For families of medically complex kids, the healthcare system often feels broken—long hospital stays, insurance battles for basic needs, and constant caregiving without real support. But what if there was a better way? In this episode, I’m joined by Taylor Beery, co-founder of Imagine Pediatrics, Jody Copp, a full-time rare disease dad of two boys with Combined oxidative phosphorylation deficiency type 13 associated with a mutation in the PNPT1 gene and whose family has experienced firsthand the impact of their care model. Imagine Pediatrics is changing the game by providing 24/7, in-home, virtual-first medical care designed to keep kids safe at home—not in the hospital. He also has a rad foundation that we will chat about in a future episode: Raising Wheels Foundation If you are in Texas, Florida, and District of Columbia you have access to Imagine Pediatrics! We discuss: 💙 The problems with the current healthcare system for medically complex kids 💙 Why "safe days at home" should be the goal of pediatric care 💙 How Imagine Pediatrics partners with families rather than making them fight for care 💙 The economic case for home-based care and why insurance should want this model 💙 Walker’s legacy— how Taylor’s son inspired a movement to improve pediatric healthcare Kids Join the Fight 🔗 Listen now & share with families who need this

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• How a Service Dog Helped a Child with CACNA1C-Related Disorder (Timothy Syndrome) Gain Independence – with Sue Bresnahan

  Service dogs are often associated with guiding the blind or assisting with mobility, but their impact goes far beyond traditional roles. In this episode, I’m joined by Sue Bresnahan, a pediatric nurse and rare mom, whose son has CACNA1C-related disorder (Timothy Syndrome). When they welcomed Yammy, his service dog, into their family, everything changed. Yammy didn’t just provide companionship—he unlocked a level of independence and confidence that Sue never imagined possible for her son. Sue shares their journey, the process of getting a service dog, and why families of kids with disabilities should consider this life-changing support. If you’ve ever wondered how a service dog could help a child beyond the traditional reasons, this episode is for you. In This Episode, We Discuss: ✔️ Sue’s journey as a rare mom and navigating CACNA1C-related disorder (Timothy Syndrome) ✔️ The unexpected ways service dogs can support kids with disabilities ✔️ How Yammy transformed her son’s independence and confidence ✔️ The process of getting and training a service dog ✔️ What families should know before pursuing a service dog ✔️ Overcoming challenges and misconceptions about service dogs ✔️ Advice for families considering a service dog Resources & Links: 📌 Learn more about CACNA1C-related disorder (Timothy Syndrome) 📌 Service Dog Organizations & Resources - ECAD 📌 Connect with Sue Bresnahan - Instagram 📌 Want to support Once Upon a Gene? Leave a review on Apple Podcasts & share this episode!

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