Once Upon A Gene

May 23 2024 100
Once Upon A Gene Podcast artwork

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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Balancing Rare Disease Advocacy and Family - Navigating the Complexities and Embracing Imperfections with Nikki Stusick

May 23 2024 36 mins  
ONCE UPON A GENE - EPISODE 230 Balancing Rare Disease Advocacy and Family - Navigating the Complexities and Embracing Imperfections with Nikki Stusick Nikki Stusick is the mom of a child with an initial VUS diagnosis and then a different pathogenic diagnosis. We talk about the complexities of balancing advocacy work, family life, when to choose one over the other and when to take a

Uniting Strengths - Rare Disease Collaboration on a Shared Patient Registry Through Sanford Cords with Cure Mito and Hope for PDCD Leaders Frances Muenzer Pimentel and Sophia Zilber

May 16 2024 35 mins  
ONCE UPON A GENE - EPISODE 229 Uniting Strengths - Rare Disease Collaboration on a Shared Patient Registry Through Sanford Cords with Cure Mito and Hope for PDCD Leaders Frances Muenzer Pimentel and Sophia Zilber Frances Muenzer Pimentel and Sophia Zilber have united the Hope for PDCD Foundation and the Cure Mito Foundation to launch a global joint registry and they're here to shar

Episode 228 - Strength In Unity - The Power of Consolidated Rare Disease Advocacy, Collaborative Breakthroughs, and the Every Cure Initiative with Dr. David Fajgenbaum

May 09 2024 51 mins  
ONCE UPON A GENE - EPISODE 228 Strength In Unity - The Power of Consolidated Rare Disease Advocacy, Collaborative Breathroughs, and the Every Cure Initiative with Dr. David Fajgenbaum Dr. David Fajgenbaum is is a groundbreaking physician-scientist, disease hunter, speaker, and national bestselling author of Chasing My Cure: A Doctor's Race to Turn Hope Into Action. He joins me to d

Bringing Balance Back to the Language of Disability from The Special Needs Mom Podcast with Kara Ryska

Apr 25 2024 51 mins  
Connect with Kara, host of The Special Needs Mom Podcast: Instagram: https://www.instagram.com/thespecialneedsmompodcast/ Website: https://www.kararyska.com/ Coaching Opportunities Pathway to Peace {Group Coaching Program}: Schedule a Consult or Contact Me Join The Special Needs Mom Podcast Community FaceBook Group!! Click here to Request to Join

From Classrooms to Communities - Parents Visionary Journey in Education, Living, and Advocacy for Inclusion and Epilepsy Funding with Jillian and Scott Copeland

Apr 18 2024 45 mins  
ONCE UPON A GENE - EPISODE 226 From Classrooms to Communities - Parents Visionary Journey in Education, Living, and Advocacy for Inclusion and Epilepsy Funding with Jillian and Scott Copeland Jillian and Scott Copeland are husband and wife, advocates and pioneers who have transformed their personal journey of having a child diagnosed with epilepsy. They have taken off on a quest to

The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman

Apr 11 2024 46 mins  
ONCE UPON A GENE - EPISODE 225 The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman Noah Siedman was a big brother to Ben who had Sanfilippo Syndrome, a devastating disease that leads to childhood dementia and premature death. He joins me to talk about his sibling experience and dealing with gri

The Complicated World of ICD10 Codes with CEO and Co-Founder of SLC6A1 Connect - Amber Freed

Apr 04 2024 28 mins  
ONCE 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— the frustrations, the battles, and the common-sense changes we're fighting for in the rare disease community that are pivotal to research, recognition and trea

Rare Epilepsy Network with Ilene Penn Miller and Christina Sanlnocencio

Mar 28 2024 51 mins  
ONCE 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 together, sharing research efforts, and improving the lives of rare epilepsy patients and families. They're her

Krabbe Disease with Kasey Feldt

Mar 21 2024 29 mins  
ONCE 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 only advocating for Krabbe disease, but also the newborn screening system so kids have a better chance at early detection. EPISODE HIGHLIGHTS Can you tell us abou

BeginNGS - Newborn Genomic Sequencing to End the Diagnostic Odyssey with Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay

Mar 14 2024 38 mins  
ONCE 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, a ground-breaking initiative that stands at the forefront of genetic sequencing and rare disease diagnosis. EPISODE HIGHLIGHTS What led to the crea