Once Upon A Gene
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From Hopeless Grief to Heavenly Hope: Brittni Lamb on Surrender, Faith, and Raising a Son with Hereditary Spastic Paraplegia SPG3A
30 mins; April 02, 2026
Smarter Speech: How Q-Voice Is Changing AAC for Families and Therapists with Lana Marcucio
42 mins; October 24, 2025
Why Genetic Testing Matters: The Case for Genetic Testing and the Start Genetic Movement - with Geraldine Bliss
46 mins; October 16, 2025
Mini Brains in a Dish: Organoids and the Future of Personalized Rare Disease Medicine
38 mins; October 02, 2025
Healing in the Mess: Storytelling, Friendship & Finding Love - Author of The Unlikely Village of Eden, Emma Nadler
53 mins; September 04, 2025
15 Years of Simons Searchlight: Dr. Wendy Chung on How Families Shape Rare Disease Research and Spark Aha Moments - with Wendy Chung
23 mins; August 28, 2025
A Rare Collection - Rare Disease Storytelling with Kyle Bryant, Jennifer Siedman, Liz Morris and Ashley Fortney Point
24 mins; June 12, 2025
Finding Joy in the Journey: A Guide for Parents of Medically Complex Kids with Amber Pierson & Chelsea Kuhn
42 mins; June 05, 2025
From Beast Games Champ to Rare Disease Warrior: Jeff Allen’s 365-Mile Ruck for His Son’s Creatine Transporter Deficiency
33 mins; May 15, 2025
GeneDx Launches Cerebral Palsy Genetic Testing Pillar & Discover Snapshot: For Deeper Insights and to Help You Grow Your Patient Community – with Gay Grossman
32 mins; May 01, 2025
Empowered Kids - Painless Labs :O'Ryan Health’s At‑Home Blood‑Draw Revolution with Tim Coleman
34 mins; April 18, 2025
Navigating the Complexities of Grief: How One Mother’s Grief Birthed a Supportive Community with, Heather Straughter.
53 mins; March 27, 2025
Reimagining 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
44 mins; March 20, 2025
How a Service Dog Helped a Child with CACNA1C-Related Disorder (Timothy Syndrome) Gain Independence – with Sue Bresnahan
32 mins; March 06, 2025
Unlocking Rare Disease Diagnoses with PacBio’s Long-Read Sequencing – A Conversation with CEO Christian Henry
33 mins; February 27, 2025
Prioritizing Caregiver Health: Gut Health, Stress, and Sustainable Wellness for Parents of Kids with Disabilities – with Integrative Health Practitioner & CTNNB1 Mom, Fraser Bridgeman
45 mins; February 20, 2025
Breaking the Silence: Growing Up with Sickle Cell, Facing Pain, and Finding Strength Through Advocacy with James Griffin
33 mins; January 30, 2025
Lighting the Way: A Story of Love, Friendship, and Finding New Dreams - CERT1 w/ Samantha & Wesley Rogers
38 mins; January 23, 2025
Preconception & Prenatal Genetic Testing 101: A Conversation with Genetic Counselor, Natalie Richheimer
42 mins; January 16, 2025
Transforming Pediatric Rare Disease Research: Dr. Ramin Eskandari on Neurosurgery, Biorepositories, and Empowering Families and Medical Teams to Save Residual Samples
39 mins; January 09, 2025
Eight Years of Searching: A Determined Family’s Quest to Cure an Ultra-Rare CLCN6 Mutation with Kristin & Paul Purdy
31 mins; January 02, 2025
Chasing Glimmers - From Grief to Glitter: Parenting Through Infantile MLD and Embracing Life’s Full Spectrum - with Megan Gillet
36 mins; December 19, 2024
The Gift of Grace: A Holiday Heart-to-Heart for Caregivers
10 mins; December 12, 2024
Grateful Reflections for Thanksgiving and Epilepsy Awareness Month: Parents Share Love, Lessons, and Insights from the Dravet Syndrome Community
156 hours 33 mins; November 27, 2024
Ready for Take Off: Mission for Accessible Air Travel & Disability Advocacy, with Mindy Henderson
37 mins; November 14, 2024
The Unique Expertise of a Genetic Counselor - Helping Rare Disease Individuals and Families Navigate Through Complex Emotions and Circumstances Like Guilt, Grief, and Shame with Mary-Frances Garber
40 mins; October 31, 2024
Hospital Survival Kit - Advocating for Your Child Without Losing Yourself
23 mins; October 17, 2024
Real-World Self-Care for Caregivers - Tiny Wins, Small Shifts, and Taking Back Your Power
17 mins; October 10, 2024
Finding Strength in Friendship - Building In-Person Connections for Special Needs Moms with Colorado Mama Tribe - Mariah Gillaspie
24 mins; September 26, 2024
Beginners Guide to Rare Disease - Wisdom from Others Who Have Been There
24 mins; September 19, 2024
Chasing Glimmers - Electric Love Disability Retreats
32 mins; September 12, 2024
Choosing Friends as a Rare Disease Parent - Building a Supportive Circle with Genuine Connections
16 mins; September 05, 2024
Chasing Glimmers - Whats Glimmering with Katie Lloyd
31 mins; August 29, 2024
A Mother's Mission - Project Baby Lion, ASO Therapy and the TNP02 Foundation with Yiwei She
34 mins; August 22, 2024
Navigating Physical and Emotional Stress and Noticing Where It Shows Up In Our Body As A Rare Disease Caregiver - With Christy Foster
46 mins; August 15, 2024
Where the Glimmers Can Surface
9 mins; August 08, 2024
Join Us for The Global Genes Week In Rare
6 mins; August 01, 2024
Rare Disease Research - Insights from Charles River Labs with Roxana Redis and David Fischer
30 mins; July 25, 2024
Rare Connections in NMOSD (Neuromyelitis Optics) - Finding Strength in Community and the Power in Asking for Help with Craig Klein
37 mins; July 18, 2024
Chasing Glimmers - Illuminating Hope and Lessons in the Rare Disease Journey - Finding Glimmers for a Happier, Healthier Life with Katie Lloyd
44 mins; July 11, 2024
Are You Worried About Your Baby's Development - Enroll in Project FIND-OUT - You May Qualify for Free Whole Genome Sequencing
8 mins; July 04, 2024
Understanding Genetic Counseling - Essential Insights for Parents – Navigating Appointments, Referrals, Testing, and Insurance with Expert Abby Turnwald MS CGC
27 mins; June 11, 2024
The Power of Genetic Diagnosis - More Than Just a Label
11 mins; June 06, 2024
Balancing Rare Disease Advocacy and Family - Navigating the Complexities and Embracing Imperfections with Nikki Stusick
36 mins; May 23, 2024
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
35 mins; May 16, 2024
Episode 228 - Strength In Unity - The Power of Consolidated Rare Disease Advocacy, Collaborative Breakthroughs, and the Every Cure Initiative with Dr. David Fajgenbaum
51 mins; May 09, 2024
Bringing Balance Back to the Language of Disability from The Special Needs Mom Podcast with Kara Ryska
51 mins; April 25, 2024
From Classrooms to Communities - Parents Visionary Journey in Education, Living, and Advocacy for Inclusion and Epilepsy Funding with Jillian and Scott Copeland
45 mins; April 18, 2024
The Bravery of the Brokenhearted - A Big Brothers Perspective on Grief From the Loss of a Sibling with Sanfilippo Syndrome with Noah Siedman
46 mins; April 11, 2024
The Complicated World of ICD10 Codes with CEO and Co-Founder of SLC6A1 Connect - Amber Freed
28 mins; April 04, 2024
Rare Epilepsy Network with Ilene Penn Miller and Christina Sanlnocencio
51 mins; March 28, 2024
Krabbe Disease with Kasey Feldt
29 mins; March 21, 2024
BeginNGS - Newborn Genomic Sequencing to End the Diagnostic Odyssey with Dr. Stephen Kingsmore, Wendy Erler and Tom DeFay
38 mins; March 14, 2024
A Rare Collection - From Financial Strain to Supportive Gain - A Call For Action
17 mins; March 07, 2024
Genomics England Clinical Lead for Genetic Counseling - Amanda Pichini
43 mins; February 29, 2024
James G Robinson - More Than We Expected Author - Five Years with a Remarkable Child
53 mins; February 22, 2024
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
51 mins; February 15, 2024
Uniting Science and Hope - COMBINEDBrain and it's Quest to Transform Research and Treatment for Rare Genetic Neurodevelopmental Disorders with Terry Jo Bichell
55 mins; February 08, 2024
A Rare Collection - Five Advocacy Aces Share Their Conference Commandments
39 mins; February 01, 2024
Soundtrack of Silence - Love, Loss, and a Playlist for Life with Neurofibromatosis Type 2 (NF2) Patient Advocate - Matt Hay
43 mins; January 25, 2024
Beyond the Crossroads- Rebuilding and Reclaiming Identity After Sacrificing Careers for Caregiving with Emily Crawford
34 mins; January 18, 2024
A Courageous Gift - The Power of Brain and Tissue Donation in Rare Disease Research with Anne Rugari
41 mins; January 11, 2024
Finding Strength In Every Step
17 mins; January 08, 2024
Pain Points on the Disorder Channel with Daniel DeFabio and Bo Bigelow -This Festivus, Let the Airing of Grievances Begin
11 mins; December 21, 2023
The Juggle is Real - Navigating Parenthood and Rare Disease Leadership with Kim Nye and Mike Graglia
49 mins; December 14, 2023
GeneDX - A Genetic Diagnosis Matters with Gay Grossman and Paul Kruszka
45 mins; December 08, 2023
A Leap of Faith - Rare Disease Moms on the Bittersweet Joy of New Babies
40 mins; November 30, 2023
Turkey Soup for the Soul
6 mins; November 23, 2023
Breaking Barriers in Brain Health with Tracy Dixon-Salazar, PhD
52 mins; November 16, 2023
Policy as a Pathway - Advocating for Rare Disease, Cri Du Chat, Disability and Palliative Care with Lindsey Topping - Schuetz
44 mins; November 09, 2023
Palliative Care & the Courageous Parent Network with Founder Blyth Lord
40 mins; November 04, 2023
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
42 mins; November 04, 2023
Mastering the Art of the Supermarket Answer When Someone Asks, How Are You with Jennifer Siedman
28 mins; November 02, 2023
From Heartbreak to Hope - With CEO of Parent Project Muscular Dystrophy, Pat Furlong
55 mins; October 26, 2023
Effisode - The Irony of it All
4 mins; October 24, 2023
These Two Rare Disease Parents Never Met Until Now and Have Everything In Common - Chronic Compassion Chronicles with Kim Gilsdorf and Daniel DeFabio
60 hours 27 mins; October 19, 2023
Utilizing Child Life Specialists - Empowering Rare Disease and Medically Complex Families in Hospitals Nationwide with Child Life On Call Founder - Katie Taylor
32 mins; October 12, 2023
A Rare Collection - Five Advocacy Aces Share Their Conference Commandments
39 mins; October 05, 2023
Effisode - 2023 SynGAP Cannonball for a Cure
3 mins; October 03, 2023
Fundraising Strategies for Patient Advocacy Organizations Raising Money for Rare Disease Research with Lindsay Stevens
31 mins; September 28, 2023
Navigating Parenthood as a Rare Mom - Expert Insights into Special Needs Financial Planning with Mary McDirmid from Special Abilities Network
45 mins; September 21, 2023
Effisode - The Unconventional Toothfairy
4 mins; September 19, 2023
Advocating with Heart - Striking the Balance Between Medical Insights and Personal Narratives - A Tribute to Valerie Marie with RING14 Co-Founder Yssa Dean DeWoody
43 mins; September 14, 2023
Rare Disease Dad Chronicles - From Stay-At-Home Fatherhood to My Mejo Co-Founder A Journey Through Costello Syndrome and Parenthood Challenges with Dadvocate - Ryan Sheedy
47 mins; September 07, 2023
Effisode - Summer Camp for Medically Complex Kids
8 mins; September 05, 2023
A Rare Collection - Schools Out for the Summer
20 mins; July 27, 2023
Anecdotes From a Rare Disease Dad of an Adult Son with NR4A2 with Joe Henry
35 mins; July 20, 2023
A Guide for Rare Disease Patient Advocacy Groups - Choosing and Designing a Patient Registry with Sophia Zilber
38 mins; July 13, 2023
Claudia Gonzaga Jauregui
49 mins; July 06, 2023
From the Rare Disease Bunker to Many More Birthdays - A Tale of a Gene Therapy that Cures her Daughter with AADC Deficiency - The First Spanish Patient - with Carolina Moreno
24 mins; June 22, 2023
A Rare Collection - A Father's Day Special - Amidst the Storm
17 mins; June 15, 2023
SCN8A Rare Mom - The Inch Stone Project and DEE-P Connections - Creating Better Tools, Resources and Research for the Most Severely Affected Families with Gabi Conecker
39 mins; June 08, 2023
Developing Personalized Therapeutics for Ultra Rare Patients with La Jolla Labs CEO Jeff Milton
37 mins; June 01, 2023
How Being a Mom to Twins with a Rare and Undiagnosed Condition Has Shaped Rare Mom, Scientist and Co-Founder of the MAST Genes Research Foundation with Dr. Kim Aldinger
43 mins; May 25, 2023
Effisode - Are We The Actors
5 mins; May 23, 2023
A Rare Collection - Keep Digging
18 mins; May 18, 2023
The Tréxō Robot and the Many Benefits of this Technology for Kids with Disabilities with the Founder and CEO Manmeet Maggu
36 mins; May 11, 2023
The Outlet - How Chris Anselmo Used Writing to Connect with Other Rare Disease Families and Come to Terms with His Own Diagnosis of Limb-Girdle Muscular Dystrophy
39 mins; May 04, 2023
A Rare Collection - Wishing Well
15 mins; April 20, 2023
Effisode - The Ultimate Rare Disease Resource Guide
4 mins; April 18, 2023