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
324
Episodios
28 min 21 sec
Duración Promedio
Inglés
Idioma
Duración Total:
153 hr 9 min
Todos los Episodios
The Complicated World of ICD10 Codes with CEO and Co-Founder of SLC6A1 Connect - Amber Freed
04 Abr, 2024ONCE UPON A GENE - EPISODE 224 The Complicated World of ICD10 Codes with CEO and Co-Founder of SLC6A1 Connect - Amber Freed Advocate, rare mom and Founder of SLC6A1 Connect, Amber Freed joins me to talk about ICD-10 codes— …
Duración: 28 minRare Epilepsy Network with Ilene Penn Miller and Christina Sanlnocencio
28 Mar, 2024ONCE UPON A GENE - EPISODE 223 Rare Epilepsy Network with Ilene Penn Miller and Christina Sanlnocencio Ilene Miller and Christina SanInocencio are advocates doing groundbreaking work at the Rare Epilepsy Network (REN), a volunteer network of epilepsy organizations banding …
Duración: 51 minKrabbe Disease with Kasey Feldt
21 Mar, 2024ONCE UPON A GENE - EPISODE 222 Krabbe Disease with Kasey Feldt Kasey Feldt is the mom of two- one year old Lukas and Dawson, who passed away from Krabbe disease. Kasey has become a passionate and unstoppable advocate, not …
Duración: 29 minBeginNGS - Newborn Genomic Sequencing to End the Diagnostic Odyssey with Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay
14 Mar, 2024ONCE UPON A GENE - EPISODE 221 BeginNGS - Newborn Genomic Sequencing to End the Diagnostic Odyssey with Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay I'm joined by Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay to discuss BeginNGS, …
Duración: 38 minA Rare Collection - From Financial Strain to Supportive Gain - A Call For Action
07 Mar, 2024ONCE UPON A GENE - EPISODE 220 A Rare Collection - From Financial Strain to Supportive Gain - A Call For Action There's power in storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring …
Duración: 17 minGenomics England Clinical Lead for Genetic Counseling - Amanda Pichini
29 Feb, 2024ONCE UPON A GENE - EPISODE 219 Genomics England Clinical Lead for Genetic Counseling - Amanda Pichini Amanda Pichini is a genetic counselor from Genomics England, here to share their initiatives and mission. EPISODE HIGHLIGHTS What is your role at …
Duración: 43 minJames G Robinson - More Than We Expected Author - Five Years with a Remarkable Child
22 Feb, 2024ONCE UPON A GENE - EPISODE 218 James G Robinson - More Than We Expected Author - Five Years with a Remarkable Child James Robinson is a dad and the author of More Than We Expected: Five Years With a …
Duración: 53 minMore of Everything - How I Became a Better Parent to My Child With Extreme Special Needs By Lifting My Emotional Burdens With SYNGAP1 Mom - Janie Reade
15 Feb, 2024ONCE UPON A GENE - EPISODE 184 More of Everything - How I Became a Better Parent to My Child With Extreme Special Needs By Lifting My Emotional Burdens With SYNGAP1 Mom - Janie Reade Janie Reade is an author …
Duración: 51 minUniting Science and Hope - COMBINEDBrain and it's Quest to Transform Research and Treatment for Rare Genetic Neurodevelopmental Disorders with Terry Jo Bichell
08 Feb, 2024ONCE UPON A GENE - EPISODE 217 Uniting Science and Hope - COMBINEDBrain and its Quest to Transform Research and Treatment for Rare Genetic Neurodevelopmental Disorders with Terry Jo Bichell Terry Jo Bichell is a rare mom, neuroscientist and the …
Duración: 55 minSoundtrack of Silence - Love, Loss, and a Playlist for Life with Neurofibromatosis Type 2 (NF2) Patient Advocate - Matt Hay
25 Ene, 2024ONCE UPON A GENE - EPISODE 216 Soundtrack of Silence - Love, Loss, and a Playlist for Life with Neurofibromatosis Type 2 (NF2) Patient Advocate - Matt Hay Matt Hay has a disorder called Neurofibromatosis type 2 (NF2) and how …
Duración: 43 min
