All Episodes

ONCE UPON A GENE- EPISODE #281: Making Memories: A Mom of a Daughter with Friedreich’s Ataxia on Last Steps, Make-A-Wish, and Not Letting the Future Steal the Day w/ Laurel Frost Coffey

ONCE UPON A GENE- EPISODE #280: Comparing Our Kids: Guilt, Milestones, and Connection in Rare Disease Parenting

ONCE UPON A GENE- EPISODE 279: Falling Into Place: A Pocket Bible of Wisdom from the Colorado Mama Tribe

ONCE UPON A GENE –EPISODE 278: His Son Was Diagnosed with Congenital Adrenal Hyperplasia (CAH) — A Dad’s Honest Story of Overwhelm, Faith, and Finding Hope Through Treatment w/ Matt Abernethy

ONCE UPON A GENE – EPISODE 277: A Mother’s Son Was Diagnosed with the Rare, Debilitating Disease LMNA-Related Congenital Muscular Dystrophy (L-CMD) — A Mother’s Story of DNR Orders and How Those Decisions Change Over Time with Hannah Lowe

ONCE UPON A GENE – EPISODE 276: His Two Sons Were Diagnosed with Coats Plus Syndrome — One Father’s Story of Rare Disease Advocacy and Brotherhood with Bryan Docobo

ONCE UPON A GENE – EPISODE 275: How AI is Making Personalized Therapies Faster, Cheaper, and Accessible for the World’s Rarest Diseases with Steven Ringel

ONCE UPON A GENE – EPISODE 274: Caregiver Archetypes of Survival (Part 4) | The Victim Archetype: From Cowardly Lion to Roaring Warrior – Reclaiming Your Inner Courage Without Losing Yourself with Christy Foster

ONCE UPON A GENE - EPISODE 273 Caregiver Archetypes of Survival (Part 3) The Saboteur Archetype: Reclaiming Your Inner Authority Without Losing Yourself, w/ Christy Foster

ONCE UPON A GENE - EPISODE 272 Caregiver Archetypes of Survival (Part 2) The Prostitute Archetype: Reclaiming Your Worth Without Losing Yourself, w/ Christy Foster

Caregiver Archetypes for Survival (Part 1) The Child Archetype : Soothe Your Inner Child Without Letting It Drive the Bus, w/ Christy Foster

From Hopeless Grief to Heavenly Hope: Brittni Lamb on Surrender, Faith, and Raising a Son with Hereditary Spastic Paraplegia SPG3A

Smarter Speech: How Q-Voice Is Changing AAC for Families and Therapists with Lana Marcucio

Why Genetic Testing Matters: The Case for Genetic Testing and the Start Genetic Movement - with Geraldine Bliss

Mini Brains in a Dish: Organoids and the Future of Personalized Rare Disease Medicine

Healing in the Mess: Storytelling, Friendship & Finding Love - Author of The Unlikely Village of Eden, Emma Nadler

15 Years of Simons Searchlight: Dr. Wendy Chung on How Families Shape Rare Disease Research and Spark Aha Moments - with Wendy Chung

A Rare Collection - Rare Disease Storytelling with Kyle Bryant, Jennifer Siedman, Liz Morris and Ashley Fortney Point

Finding Joy in the Journey: A Guide for Parents of Medically Complex Kids with Amber Pierson & Chelsea Kuhn

From Beast Games Champ to Rare Disease Warrior: Jeff Allen’s 365-Mile Ruck for His Son’s Creatine Transporter Deficiency

GeneDx Launches Cerebral Palsy Genetic Testing Pillar & Discover Snapshot: For Deeper Insights and to Help You Grow Your Patient Community – with Gay Grossman

Empowered Kids - Painless Labs :O'Ryan Health’s At‑Home Blood‑Draw Revolution with Tim Coleman

Navigating the Complexities of Grief: How One Mother’s Grief Birthed a Supportive Community with, Heather Straughter.

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

How a Service Dog Helped a Child with CACNA1C-Related Disorder (Timothy Syndrome) Gain Independence – with Sue Bresnahan

Unlocking Rare Disease Diagnoses with PacBio’s Long-Read Sequencing – A Conversation with CEO Christian Henry

Prioritizing Caregiver Health: Gut Health, Stress, and Sustainable Wellness for Parents of Kids with Disabilities – with Integrative Health Practitioner & CTNNB1 Mom, Fraser Bridgeman

Breaking the Silence: Growing Up with Sickle Cell, Facing Pain, and Finding Strength Through Advocacy with James Griffin

Lighting the Way: A Story of Love, Friendship, and Finding New Dreams - CERT1 w/ Samantha & Wesley Rogers

Preconception & Prenatal Genetic Testing 101: A Conversation with Genetic Counselor, Natalie Richheimer

Transforming Pediatric Rare Disease Research: Dr. Ramin Eskandari on Neurosurgery, Biorepositories, and Empowering Families and Medical Teams to Save Residual Samples

Eight Years of Searching: A Determined Family’s Quest to Cure an Ultra-Rare CLCN6 Mutation with Kristin & Paul Purdy

Chasing Glimmers - From Grief to Glitter: Parenting Through Infantile MLD and Embracing Life’s Full Spectrum - with Megan Gillet

The Gift of Grace: A Holiday Heart-to-Heart for Caregivers

Grateful Reflections for Epilepsy Awareness Month: Parents Share Love, Lessons, and Insights from the Dravet Syndrome Community

Ready for Take Off: Mission for Accessible Air Travel & Disability Advocacy, with Mindy Henderson

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

Hospital Survival Kit - Advocating for Your Child Without Losing Yourself

Real-World Self-Care for Caregivers - Tiny Wins, Small Shifts, and Taking Back Your Power

Finding Strength in Friendship - Building In-Person Connections for Special Needs Moms with Colorado Mama Tribe - Mariah Gillaspie

Beginners Guide to Rare Disease - Wisdom from Others Who Have Been There

Chasing Glimmers - Electric Love Disability Retreats

Choosing Friends as a Rare Disease Parent - Building a Supportive Circle with Genuine Connections

Chasing Glimmers - Whats Glimmering with Katie Lloyd

A Mother's Mission - Project Baby Lion, ASO Therapy and the TNP02 Foundation with Yiwei She

Navigating Physical and Emotional Stress and Noticing Where It Shows Up In Our Body As A Rare Disease Caregiver - With Christy Foster

Where the Glimmers Can Surface

Join Us for The Global Genes Week In Rare

Rare Disease Research - Insights from Charles River Labs with Roxana Redis and David Fischer

Rare Connections in NMOSD (Neuromyelitis Optics) - Finding Strength in Community and the Power in Asking for Help with Craig Klein

Chasing Glimmers - Illuminating Hope and Lessons in the Rare Disease Journey - Finding Glimmers for a Happier, Healthier Life with Katie Lloyd

Are You Worried About Your Baby's Development - Enroll in Project FIND-OUT - You May Qualify for Free Whole Genome Sequencing

Understanding Genetic Counseling - Essential Insights for Parents – Navigating Appointments, Referrals, Testing, and Insurance with Expert Abby Turnwald MS CGC

The Power of Genetic Diagnosis - More Than Just a Label

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

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

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

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

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

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

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

Rare Epilepsy Network with Ilene Penn Miller and Christina Sanlnocencio

Krabbe Disease with Kasey Feldt

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

A Rare Collection - From Financial Strain to Supportive Gain - A Call For Action

Genomics England Clinical Lead for Genetic Counseling - Amanda Pichini

James G Robinson - More Than We Expected Author - Five Years with a Remarkable Child

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

Uniting Science and Hope - COMBINEDBrain and it's Quest to Transform Research and Treatment for Rare Genetic Neurodevelopmental Disorders with Terry Jo Bichell

A Rare Collection - Five Advocacy Aces Share Their Conference Commandments

Soundtrack of Silence - Love, Loss, and a Playlist for Life with Neurofibromatosis Type 2 (NF2) Patient Advocate - Matt Hay

Beyond the Crossroads- Rebuilding and Reclaiming Identity After Sacrificing Careers for Caregiving with Emily Crawford

A Courageous Gift - The Power of Brain and Tissue Donation in Rare Disease Research with Anne Rugari

Finding Strength In Every Step

Pain Points on the Disorder Channel with Daniel DeFabio and Bo Bigelow -This Festivus, Let the Airing of Grievances Begin

The Juggle is Real - Navigating Parenthood and Rare Disease Leadership with Kim Nye and Mike Graglia

GeneDX - A Genetic Diagnosis Matters with Gay Grossman and Paul Kruszka

A Leap of Faith - Rare Disease Moms on the Bittersweet Joy of New Babies

Turkey Soup for the Soul

Breaking Barriers in Brain Health with Tracy Dixon-Salazar, PhD

Policy as a Pathway - Advocating for Rare Disease, Cri Du Chat, Disability and Palliative Care with Lindsey Topping - Schuetz

Palliative Care & the Courageous Parent Network with Founder Blyth Lord

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

Mastering the Art of the Supermarket Answer When Someone Asks, How Are You with Jennifer Siedman

From Heartbreak to Hope - With CEO of Parent Project Muscular Dystrophy, Pat Furlong

Effisode - The Irony of it All

These Two Rare Disease Parents Never Met Until Now and Have Everything In Common - Chronic Compassion Chronicles with Kim Gilsdorf and Daniel DeFabio

Utilizing Child Life Specialists - Empowering Rare Disease and Medically Complex Families in Hospitals Nationwide with Child Life On Call Founder - Katie Taylor

A Rare Collection - Five Advocacy Aces Share Their Conference Commandments

Effisode - 2023 SynGAP Cannonball for a Cure

Fundraising Strategies for Patient Advocacy Organizations Raising Money for Rare Disease Research with Lindsay Stevens

Navigating Parenthood as a Rare Mom - Expert Insights into Special Needs Financial Planning with Mary McDirmid from Special Abilities Network

Effisode - The Unconventional Toothfairy

Advocating with Heart - Striking the Balance Between Medical Insights and Personal Narratives - A Tribute to Valerie Marie with RING14 Co-Founder Yssa Dean DeWoody

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

Effisode - Summer Camp for Medically Complex Kids

A Rare Collection - Schools Out for the Summer

Anecdotes From a Rare Disease Dad of an Adult Son with NR4A2 with Joe Henry

A Guide for Rare Disease Patient Advocacy Groups - Choosing and Designing a Patient Registry with Sophia Zilber

Claudia Gonzaga Jauregui