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.
Episodes
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 share about the collaboration.
EPISODE HIGHLIGHTS
Wh...
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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 discuss the critical role of unity among our rare d...
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Connect with Kara, host of The Special Needs Mom Podcast:
Instagram: https://www.instagram.com/thespecialneedsmompodcast/
Website: https://www.kararyska.com/
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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 create supportive and inclusive environments for ...
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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 grief.
EPISODE HIGHLIGHTS
As a sibling under potent...
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April 4, 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 treatment of so many rare diseases.
EPISODE HIGHLIGHTS...
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March 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 here to share about the inception and mission of REN ...
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March 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 about yourself and your rare disease journey?
My s...
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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 creation of BeginNGS?
Rare genetic diseases are an ...
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March 7, 2024 • 17 mins
ONCE 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 people from the rare disease community, sharing a story with a common theme.
EPISODE HIGHLIGHTS
Katie Scheid
The beginning of my care-giving journey was filled with trauma, disbelief and a complete re-sh...
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February 29, 2024 • 43 mins
ONCE 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 Genomics England and how did your career develop?
I work at Genomics England as the Director of Clinical Implementation and I'm responsible for the strategic clinical leadership for ou...
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February 22, 2024 • 53 mins
ONCE 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 Remarkable Child, a deeply moving book and a testament to the strength found in vulnerability, the importance of community and the boundless love that families share in the face of adversity.
EPISODE HIGHLIGHTS
Can you tell us about ...
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ONCE 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 and mom to three adult sons, one with a severe neurodevelopmental disorder caused by a mutation in the SYNGAP1 gene. We'll talk about her unique perspective as a parent and also about her book, More of Everything: How I Became...
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ONCE 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 founder of COMBINEDBrain, a nonprofit organization revolutionizing the approach to clinical treatments for rare genetic neurodevelopmental disorders by pooling efforts, studies and data.
...
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February 1, 2024 • 39 mins
ONCE UPON A GENE - EPISODE 201
A Rare Collection - Five Advocacy Aces Share Their Conference Commandments
EPISODE HIGHLIGHTS
Melissa Hioco, STXBP1
DO:
Offer a family hospitality room where parents can see the broadcast and stay involved in the conference.
Provide sibling spaces and make them feel special.
Spend the extra money to provide a buffet dinner and a kid's buffet with kid-friendly food.
Ask for discounts on everythin...
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ONCE 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 he has more than overcome the challenges that came with it— he has thrived because of it. He is the author of a new book, Soundtrack of Silence: Love, Loss, and a Playlist for Life.
EPISODE HIGHLIGHTS
Can y...
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ONCE UPON A GENE - EPISODE 215
Beyond the Crossroads- Rebuilding and Reclaiming Identity After Sacrificing Careers for Caregiving with Emily Crawford
Emily Crawford left her lifelong dream job of being a teacher to surrender to the demands of care-giving. She joins me to discuss identity loss and metamorphosis after becoming a parent to a medically complex child.
EPISODE HIGHLIGHTS
Can you tell us about your family?
I have four...
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A Courageous Gift - The Power of Brain and Tissue Donation in Rare Disease Research with Anne Rugari
January 11, 2024 • 41 mins
ONCE UPON A GENE - EPISODE 214
A Courageous Gift - The Power of Brain and Tissue Donation in Rare Disease Research with Anne Rugari
Anne Rugari is an advocating powerhouse, an author of two children's books, a mom, and two of her children have passed away from Krabbe disease. She joins us to share her personal story and also share her knowledge about tissue and organ donation.
EPISODE HIGHLIGHTS
Can you share how you became part...
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ONCE UPON A GENE - EPISODE 212
Special pop up episode from our friends Daniel DeFabio and Bo Bigelow from the Disorder Channel - Pain Points
https://www.rarediseasefilmfestival.com/
www.thedisordercollection.com
https://www.facebook.com/rarediseasefilmfestival
https://www.instagram.com/disorderrarediseasefilms/
https://www.linkedin.com/company/disorder-the-rare-disease-film-festival/
DISORDER: The Rare Disease Film Festival
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