Latest Raredisorder Podcast Episodes
Episode 228 - Strength In Unity - The Power of Consolidated Rare Disease Advocacy, Collaborative Breakthroughs, and the Every Cure Initiative with Dr. David Fajgenbaum
Once Upon A Gene - May 09, 2024 11:00 - 51 minutes ★★★★★ - 251 ratingsONCE 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 bestselli...
Bringing Balance Back to the Language of Disability from The Special Needs Mom Podcast with Kara Ryska
Once Upon A Gene - April 25, 2024 11:00 - 51 minutes ★★★★★ - 251 ratingsConnect 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 Comm...
From Classrooms to Communities - Parents Visionary Journey in Education, Living, and Advocacy for Inclusion and Epilepsy Funding with Jillian and Scott Copeland
Once Upon A Gene - April 18, 2024 11:00 - 45 minutes ★★★★★ - 251 ratingsONCE 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 perso...
The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman
Once Upon A Gene - April 11, 2024 15:42 - 46 minutes ★★★★★ - 251 ratingsONCE 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 an...
The Complicated World of ICD10 Codes with CEO and Co-Founder of SLC6A1 Connect - Amber Freed
Once Upon A Gene - April 04, 2024 11:00 - 28 minutes ★★★★★ - 251 ratingsONCE 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 fightin...
Rare Epilepsy Network with Ilene Penn Miller and Christina Sanlnocencio
Once Upon A Gene - March 28, 2024 11:00 - 51 minutes ★★★★★ - 251 ratingsONCE 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 resea...
Krabbe Disease with Kasey Feldt
Once Upon A Gene - March 21, 2024 11:00 - 29 minutes ★★★★★ - 251 ratingsONCE 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 ...
BeginNGS - Newborn Genomic Sequencing to End the Diagnostic Odyssey with Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay
Once Upon A Gene - March 14, 2024 11:00 - 38 minutes ★★★★★ - 251 ratingsONCE 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 o...
A Rare Collection - From Financial Strain to Supportive Gain - A Call For Action
Once Upon A Gene - March 07, 2024 12:00 - 17 minutes ★★★★★ - 251 ratingsONCE 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 comm...
Genomics England Clinical Lead for Genetic Counseling - Amanda Pichini
Once Upon A Gene - February 29, 2024 12:00 - 43 minutes ★★★★★ - 251 ratingsONCE 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 devel...
James G Robinson - More Than We Expected Author - Five Years with a Remarkable Child
Once Upon A Gene - February 22, 2024 12:00 - 53 minutes ★★★★★ - 251 ratingsONCE 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, th...
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
Once Upon A Gene - February 15, 2024 13:39 - 51 minutes ★★★★★ - 251 ratingsONCE 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 m...
Uniting Science and Hope - COMBINEDBrain and it's Quest to Transform Research and Treatment for Rare Genetic Neurodevelopmental Disorders with Terry Jo Bichell
Once Upon A Gene - February 08, 2024 12:00 - 55 minutes ★★★★★ - 251 ratingsONCE 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 ...
A Rare Collection - Five Advocacy Aces Share Their Conference Commandments
Once Upon A Gene - February 01, 2024 12:00 - 39 minutes ★★★★★ - 251 ratingsONCE 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 f...
Soundtrack of Silence - Love, Loss, and a Playlist for Life with Neurofibromatosis Type 2 (NF2) Patient Advocate - Matt Hay
Once Upon A Gene - January 25, 2024 12:00 - 43 minutes ★★★★★ - 251 ratingsONCE 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 thri...
Beyond the Crossroads- Rebuilding and Reclaiming Identity After Sacrificing Careers for Caregiving with Emily Crawford
Once Upon A Gene - January 18, 2024 12:00 - 34 minutes ★★★★★ - 251 ratingsONCE 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 an...
A Courageous Gift - The Power of Brain and Tissue Donation in Rare Disease Research with Anne Rugari
Once Upon A Gene - January 11, 2024 12:00 - 41 minutes ★★★★★ - 251 ratingsONCE 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 sha...
Finding Strength In Every Step
Once Upon A Gene - January 08, 2024 12:00 - 17 minutes ★★★★★ - 251 ratingsAs 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...
Pain Points on the Disorder Channel with Daniel DeFabio and Bo Bigelow -This Festivus, Let the Airing of Grievances Begin
Once Upon A Gene - December 21, 2023 12:00 - 11 minutes ★★★★★ - 251 ratingsONCE 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/disorderr...
The Juggle is Real - Navigating Parenthood and Rare Disease Leadership with Kim Nye and Mike Graglia
Once Upon A Gene - December 14, 2023 12:00 - 49 minutes ★★★★★ - 251 ratingsONCE UPON A GENE - EPISODE 211 The Juggle is Real - Navigating Parenthood and Rare Disease Leadership with Kim Nye and Mike Graglia Rare disease parents and front line advocates, Kim Nye and Mike Graglia, join this episode for a discussion about the unseen struggles of rare disease parenthood an...
GeneDX - A Genetic Diagnosis Matters with Gay Grossman and Paul Kruszka
Once Upon A Gene - December 08, 2023 12:00 - 45 minutes ★★★★★ - 251 ratingsONCE UPON A GENE - EPISODE 210 GeneDX - A Genetic Diagnosis Matters with Gay Grossman and Paul Kruszka If you're passionate about the evolving landscape of genetic testing, this episode is for you. Gay Grossman, Patient Advocacy & Engagement Lead, and Paul Kruszka, Chief Medical Officer, are a w...
A Leap of Faith - Rare Disease Moms on the Bittersweet Joy of New Babies
Once Upon A Gene - November 30, 2023 12:00 - 40 minutes ★★★★★ - 251 ratingsONCE UPON A GENE - EPISODE 209 A Leap of Faith - Rare Disease Moms on the Bittersweet Joy of New Babies I'm joined by two new, rare moms, Emily and Katie, to discuss the topic of having additional children after you've had a child with a rare disease. EPISODE HIGHLIGHTS How did your experienc...
Turkey Soup for the Soul
Once Upon A Gene - November 23, 2023 12:00 - 6 minutes ★★★★★ - 251 ratingsBackground Music Credits: Title: Sensual Folk Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Licence: CC BY-NC https://creativecommons.org/license...
Breaking Barriers in Brain Health with Tracy Dixon-Salazar, PhD
Once Upon A Gene - November 16, 2023 12:00 - 52 minutes ★★★★★ - 251 ratingsONCE UPON A GENE - EPISODE 207 Breaking Barriers in Brain Health with Tracy Dixon-Salazar, PhD For Epilepsy Awareness Month, I am joined by Tracy Dixon-Salazar, a rad scientist-mom and patient advocate. Her adult daughter Savannah was diagnosed with LGS as a child and in this episode, Tracy shar...
Policy as a Pathway - Advocating for Rare Disease, Cri Du Chat, Disability and Palliative Care with Lindsey Topping - Schuetz
Once Upon A Gene - November 09, 2023 12:00 - 44 minutes ★★★★★ - 251 ratingsONCE UPON A GENE - EPISODE 205 Policy as a Pathway - Advocating for Rare Disease, Cri Du Chat, Disability and Palliative Care with Lindsey Topping-Schuetz Lindsey Topping-Schuetz is a parent to seven-year-old Owen, who has cri-du-chat syndrome, also known as 5p-. Lindsey focuses her advocacy wor...
Palliative Care & the Courageous Parent Network with Founder Blyth Lord
Once Upon A Gene - November 04, 2023 13:34 - 40 minutes ★★★★★ - 251 ratingsThe Once Upon a Gene Merch Shop is open for pre-orders through December 6th. Check out the new products added to the shop before it’s too late! Blyth Lord is the Founder of the nonprofit, Courageous Parents Network, an educational platform that orients, empowers and accompanies families caring fo...
Figuring Out How to Infuse Meaning in the Days After the Loss of a Child and the Daunting Task of What the Hell to do Now with Liz Morris
Once Upon A Gene - November 04, 2023 13:33 - 42 minutes ★★★★★ - 251 ratingsONCE UPON A GENE - EPISODE 123 Figuring Out How to Infuse Meaning in the Days After the Loss of a Child and the Daunting Task of What the Hell to do Now with Liz Morris Liz Morris is a guest blogger on the Courageous Parents Network and a fellow Seattle rare mom who lost her son Colson to mitoch...
Mastering the Art of the Supermarket Answer When Someone Asks, How Are You with Jennifer Siedman
Once Upon A Gene - November 02, 2023 11:00 - 28 minutes ★★★★★ - 251 ratingsONCE UPON A GENE - EPISODE 205 Mastering the Art of the Supermarket Answer When Someone Asks, How Are You with Jennifer Siedman Jennifer Siedman is a relatable, rare mom who has a lot of experience with rare disease. She is the Director of Community Engagement at the Courageous Parents Network a...
From Heartbreak to Hope - With CEO of Parent Project Muscular Dystrophy, Pat Furlong
Once Upon A Gene - October 26, 2023 11:00 - 55 minutes ★★★★★ - 251 ratingsONCE UPON A GENE - EPISODE 204 From Heartbreak to Hope - With CEO of Parent Project Muscular Dystrophy, Pat Furlong When doctors diagnosed her two sons, Christopher and Patrick, with Duchenne in 1984, Pat didn’t accept “there’s no hope and little help” as an answer. Pat immersed herself in Duche...
Effisode - The Irony of it All
Once Upon A Gene - October 24, 2023 11:00 - 4 minutes ★★★★★ - 251 ratingsIntro Music: Title: Storybook Author: Scott Holmes https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music Source: Free Music Archive https://freemusicarchive.org/music/Scott_Holmes/inspiring-background-music License: CC BY-NC https://creativecommons.org/licenses/by-nc/4.0/
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