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.
Autor: Effie Parks
332
Episodios
28 min 37 sec
Duración Promedio
Inglés
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Duración Total:
158 hr 24 min
Último Episodio: 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 …
Publicado: 18 de abril de 2025 | Duración: 34 min
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Empowered Kids - Painless Labs :O'Ryan Health’s At‑Home Blood‑Draw Revolution with Tim Coleman
18 Abr, 2025Turning 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 …
Duración: 34 minNavigating the Complexities of Grief: How One Mother’s Grief Birthed a Supportive Community with, Heather Straughter.
27 Mar, 2025In 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 …
Duración: 53 minReimagining 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
20 Mar, 2025Reimagining 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 …
Duración: 44 minHow a Service Dog Helped a Child with CACNA1C-Related Disorder (Timothy Syndrome) Gain Independence – with Sue Bresnahan
06 Mar, 2025Service 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 …
Duración: 32 minUnlocking Rare Disease Diagnoses with PacBio’s Long-Read Sequencing – A Conversation with CEO Christian Henry
27 Feb, 2025I’m joined by Christian Henry, CEO of PacBio, a company leading the way in high-accuracy long-read sequencing. We break down what that means in simple terms, how this technology is helping families solve their diagnostic odyssey, and why some genetic …
Duración: 33 minPrioritizing Caregiver Health: Gut Health, Stress, and Sustainable Wellness for Parents of Kids with Disabilities – with Integrative Health Practitioner & CTNNB1 Mom, Fraser Bridgeman
20 Feb, 2025As caregivers, we give everything to our kids—but where does that leave us? Burnt out, exhausted, and running on fumes. If you’ve ever felt like you don’t even know where to start when it comes to your own health, this …
Duración: 45 minBreaking the Silence: Growing Up with Sickle Cell, Facing Pain, and Finding Strength Through Advocacy with James Griffin
30 Ene, 2025In this powerful episode of Once Upon a Gene, I sit down with James Griffin, author of Breaking Silence: Living With Sickle Cell Anemia. Diagnosed at just two years old, James spent much of his life keeping his condition a …
Duración: 33 minLighting the Way: A Story of Love, Friendship, and Finding New Dreams - CERT1 w/ Samantha & Wesley Rogers
23 Ene, 2025In this inspiring episode of Once Upon a Gene, I sit down with Samantha and Wesley Rogers, founders of Lottie’s Light Foundation, and proud parents of the incredible Lottie, who lives with a CERT1 mutation. The Rogers share the heartfelt …
Duración: 38 minPreconception & Prenatal Genetic Testing 101: A Conversation with Genetic Counselor, Natalie Richheimer
16 Ene, 2025In this episode, I sit down with Natalie Richheimer, a genetic counselor at JScreen, to dig into the world of preconception and prenatal genetic testing. We explore the basics of carrier screening, how to interpret results, and the importance of …
Duración: 42 minTransforming Pediatric Rare Disease Research: Dr. Ramin Eskandari on Neurosurgery, Biorepositories, and Empowering Families and Medical Teams to Save Residual Samples
09 Ene, 2025Show Notes: Transforming Pediatric Rare Disease Research with Dr. Ramin Eskandari In this episode, I’m joined by Dr. Ramin Eskandari, a pediatric neurosurgeon at MUSC who is revolutionizing rare disease research through his innovative work with biorepositories. Dr. Eskandari shares …
Duración: 39 min
