Shows / Once Upon A Gene
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…
Episodes
Once Upon A GeneONCE UPON A GENE- EPISODE #282: Epilepsy Awareness Day at Disneyland—Education, Community, and What Families Can Expect with Brad Levy
In this episode, Effie talks with Brad Levy, founder of Epilepsy Awareness Day at Disneyland, about what families can expect at the expo, how to make the most…
Once Upon A GeneONCE 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
Laurel on Amelia, Friedrich’s Ataxia, and Choosing Joy in the Face of ProgressionLaurel shares her family’s experience raising Amelia, who was diagnosed with…
Once Upon A GeneONCE UPON A GENE- EPISODE #280: Comparing Our Kids: Guilt, Milestones, and Connection in Rare Disease Parenting
Have you ever celebrated another child’s milestone while quietly wondering why your own child hasn’t reached it? Or caught yourself thinking, “Their kid can…
Once Upon A GeneONCE UPON A GENE- EPISODE 279: Falling Into Place: A Pocket Bible of Wisdom from the Colorado Mama Tribe
Colorado Mama Tribe invited me out to talk about storytelling. What I found was even more than I had hoped for. They did it. They figured it out - at least…
Once Upon A GeneONCE 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
Effie welcomes Matt Abernethy, a father and biotech executive whose story feels almost too perfectly timed to be real. Matt’s youngest son, Ian (now 13), was…
Once Upon A GeneONCE 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
Hannah Lowe is back on the show. In this episode, Effie and Hannah discuss do not resuscitate orders for children with rare diseases. Hannah shares her…
Once Upon A GeneONCE 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
Bryan Docobo — attorney, father, rare disease advocate, and founder of the Coats Plus Foundation. Bryan opens up about the devastating journey of losing his…
Once Upon A GeneONCE UPON A GENE – EPISODE 275: How AI is Making Personalized Therapies Faster, Cheaper, and Accessible for the World’s Rarest Diseases with Steven Ringel
Get your free Nome report at www.nome.bio – Families can upload a genetic report and receive a free personalized therapy feasibility report in minutes. In this…
Once Upon A GeneONCE 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
In the final episode of their four-part archetype series, Effie Parks and archetype expert Christy Foster explore the Victim Archetype—represented by the…
Once Upon A GeneONCE UPON A GENE - EPISODE 273 Caregiver Archetypes of Survival (Part 3) The Saboteur Archetype: Reclaiming Your Inner Authority Without Losing Yourself, w/ Christy Foster
In part 3 of our 4-part series on Caregiver Archetypes, my sister and somatic therapist Christy Foster returns to unpack the Saboteur — the clever inner voice…
Once Upon A GeneONCE UPON A GENE - EPISODE 272 Caregiver Archetypes of Survival (Part 2) The Prostitute Archetype: Reclaiming Your Worth Without Losing Yourself, w/ Christy Foster
Welcome to Part 2 of our 4-part Caregiver Archetype series. In this episode, Effie is joined by somatic therapist Christy Foster to explore the Prostitute…
Once Upon A GeneCaregiver Archetypes for Survival (Part 1) The Child Archetype : Soothe Your Inner Child Without Letting It Drive the Bus, w/ Christy Foster
In this opening episode of our special 4-part series on Caregiver Archetypes, host Effie Parks welcomes back her sister, Christy Foster, for a heartfelt and…
Once Upon A GeneFrom Hopeless Grief to Heavenly Hope: Brittni Lamb on Surrender, Faith, and Raising a Son with Hereditary Spastic Paraplegia SPG3A
Episode Description: In this warm and deeply honest conversation, I sit down with my sweet friend Brittni Lamb — a sunshine-loving mama in Arizona raising two…
Once Upon A GeneSmarter Speech: How Q-Voice Is Changing AAC for Families and Therapists with Lana Marcucio
Lana is a mom, software developer, and fierce advocate who created Q-Voice, an AAC system built out of love, frustration, and deep understanding. When her…
Once Upon A GeneWhy Genetic Testing Matters: The Case for Genetic Testing and the Start Genetic Movement - with Geraldine Bliss
In this episode of Once Upon a Gene, host Effie Parks welcomes Geraldine Bliss — rare mom, co-founder of CureSHANK, and the powerhouse behind Start Genetic, a…
Once Upon A GeneMini Brains in a Dish: Organoids and the Future of Personalized Rare Disease Medicine
In this episode of Once Upon a Gene, Effie sits down with Dr. Maya Gosztyla from Brainstorm Therapeutics to explore one of the most exciting frontiers in rare…
Once Upon A GeneHealing in the Mess: Storytelling, Friendship & Finding Love - Author of The Unlikely Village of Eden, Emma Nadler
This episode of Once Upon a Gene is a little like a cafeteria tray - pick what feeds you and leave what doesn't. Chatting with the zesty, vivacious, and wildly…
Once Upon A Gene15 Years of Simons Searchlight: Dr. Wendy Chung on How Families Shape Rare Disease Research and Spark Aha Moments - with Wendy Chung
In this conversation, Wendy Chung discusses the evolution of understanding genetic conditions, particularly in relation to autism, and the role of Simons…
Once Upon A GeneA Rare Collection - Rare Disease Storytelling with Kyle Bryant, Jennifer Siedman, Liz Morris and Ashley Fortney Point
ONCE UPON A GENE - EPISODE 100 A Rare Collection- Because of You with Kyle Bryant, Jennifer Siedman, Liz Morris, and Ashley Fortney Point There's power in…
Once Upon A GeneFinding Joy in the Journey: A Guide for Parents of Medically Complex Kids with Amber Pierson & Chelsea Kuhn
Discount Code for 20% off: ONCEUPONAGENE Chelsea and Amber of Lemon Cake—two fellow rare moms on a mission—pop in to remind you that even when seizures…
Once Upon A GeneFrom Beast Games Champ to Rare Disease Warrior: Jeff Allen’s 365-Mile Ruck for His Son’s Creatine Transporter Deficiency
In this episode, Jeffrey Allen, a passionate advocate for rare disease awareness and a dedicated father to Lucas, who has creatine transporter deficiency. (CTD…
Once Upon A GeneGeneDx Launches Cerebral Palsy Genetic Testing Pillar & Discover Snapshot: For Deeper Insights and to Help You Grow Your Patient Community – with Gay Grossman
In this episode of Once Upon a Gene, I’m joined again by rare mom and powerhouse advocate Gay Grossman. Gay works at GeneDx—home to one of the largest clinical…
Once Upon A GeneEmpowered Kids - Painless Labs :O'Ryan Health’s At‑Home Blood‑Draw Revolution with Tim Coleman
Turning Kids into Superheroes of Science with O’Ryan Health The world of pediatric autoimmune and rare diseases can feel isolating—especially when answers live…
Once Upon A GeneNavigating the Complexities of Grief: How One Mother’s Grief Birthed a Supportive Community with, Heather Straughter.
In this heartfelt conversation, Heather Straughter shares her profound journey through grief after the loss of her son, Jake. She discusses the pivotal moments…
Once Upon A GeneReimagining 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
Reimagining Pediatric Care with Imagine Pediatrics For families of medically complex kids, the healthcare system often feels broken—long hospital stays…
Once Upon A GeneHow a Service Dog Helped a Child with CACNA1C-Related Disorder (Timothy Syndrome) Gain Independence – with Sue Bresnahan
Service dogs are often associated with guiding the blind or assisting with mobility, but their impact goes far beyond traditional roles. In this episode, I’m…
Once Upon A GeneUnlocking Rare Disease Diagnoses with PacBio’s Long-Read Sequencing – A Conversation with CEO Christian Henry
I’m joined by Christian Henry, CEO of PacBio, a company leading the way in high-accuracy long-read sequencing. We break down what that means in simple terms…
Once Upon A GenePrioritizing Caregiver Health: Gut Health, Stress, and Sustainable Wellness for Parents of Kids with Disabilities – with Integrative Health Practitioner & CTNNB1 Mom, Fraser Bridgeman
As caregivers, we give everything to our kids—but where does that leave us? Burnt out, exhausted, and running on fumes. If you’ve ever felt like you don’t even…
Once Upon A GeneBreaking the Silence: Growing Up with Sickle Cell, Facing Pain, and Finding Strength Through Advocacy with James Griffin
In this powerful episode of Once Upon a Gene, I sit down with James Griffin, author of Breaking Silence: Living With Sickle Cell Anemia. Diagnosed at just two…
Once Upon A GeneLighting the Way: A Story of Love, Friendship, and Finding New Dreams - CERT1 w/ Samantha & Wesley Rogers
In this inspiring episode of Once Upon a Gene, I sit down with Samantha and Wesley Rogers, founders of Lottie’s Light Foundation, and proud parents of the…
Once Upon A GenePreconception & Prenatal Genetic Testing 101: A Conversation with Genetic Counselor, Natalie Richheimer
In this episode, I sit down with Natalie Richheimer, a genetic counselor at JScreen, to dig into the world of preconception and prenatal genetic testing. We…
Once Upon A GeneTransforming Pediatric Rare Disease Research: Dr. Ramin Eskandari on Neurosurgery, Biorepositories, and Empowering Families and Medical Teams to Save Residual Samples
Show Notes: Transforming Pediatric Rare Disease Research with Dr. Ramin Eskandari In this episode, I’m joined by Dr. Ramin Eskandari, a pediatric neurosurgeon…
Once Upon A GeneEight Years of Searching: A Determined Family’s Quest to Cure an Ultra-Rare CLCN6 Mutation with Kristin & Paul Purdy
Links & Resources: Follow Their Journey on Social Media Facebook: Paxtons Pioneers Instagram: Paxtons_Pioneers KCAL News Story Watch the in-depth feature on…
Once Upon A GeneChasing Glimmers - From Grief to Glitter: Parenting Through Infantile MLD and Embracing Life’s Full Spectrum - with Megan Gillet
Chasing Glimmers, is all about finding the small, hopeful moments that shine through the darkest of times. Like you, Katie and I know how challenging the rare…
Once Upon A GeneThe Gift of Grace: A Holiday Heart-to-Heart for Caregivers
Dear Friends, The holidays can be a beautiful time of connection, joy, and celebration—but for caregivers, it can also be a season that amplifies the weight we…
Once Upon A GeneGrateful Reflections for Epilepsy Awareness Month: Parents Share Love, Lessons, and Insights from the Dravet Syndrome Community
2024 DSF Biennial Family & Professional Conference June 20th to June 22nd. This three-day gathering united all those committed to improving the lives of…
Once Upon A GeneReady for Take Off: Mission for Accessible Air Travel & Disability Advocacy, with Mindy Henderson
Episode Highlights: Mindy Henderson, a powerful advocate for disability rights and the Director & Editor-In-Chief of MDA's Quest Media. Mindy shares her…
Once Upon A GeneThe 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
ONCE UPON A GENE - EPISODE 133 The Unique Expertise of a Genetic Counselor - Helping Rare Disease Individuals and Families Navigate Through Complex Emotions…
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Finding Strength in Friendship - Building In-Person Connections for Special Needs Moms with Colorado Mama Tribe - Mariah Gillaspie
ONCE UPON A GENE - EPISODE 245 Finding Strength in Friendship - Building In-Person Connections for Special Needs Moms with Colorado Mama Tribe - Mariah…
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Beginners Guide to Rare Disease - Wisdom from Others Who Have Been There
A collection of voicemails from rare disease parents who relate to you situation.
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Chasing Glimmers - Electric Love Disability Retreats
ONCE UPON A GENE - EPISODE 243 Chasing Glimmers - Electric Love Disability Retreats Chasing Glimmers is all about finding the small, hopeful moments that shine…
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Choosing Friends as a Rare Disease Parent - Building a Supportive Circle with Genuine Connections
ONCE UPON A GENE - EPISODE 242 Choosing Friends as a Rare Disease Parent - Building a Supportive Circle with Genuine Connections I've been seeing so many…
Once Upon A GeneChasing Glimmers - Whats Glimmering with Katie Lloyd
ONCE UPON A GENE - EPISODE 241 Chasing Glimmers - What's Glimmering with Katie Lloyd Chasing Glimmers, is all about finding the small, hopeful moments that…
Once Upon A GeneA Mother's Mission - Project Baby Lion, ASO Therapy and the TNP02 Foundation with Yiwei She
ONCE UPON A GENE - EPISODE 240 A Mother's Mission - Project Baby Lion, ASO Therapy and the TNP02 Foundation with Yiwei She Yiwei She is a powerhouse mom to…
Once Upon A GeneNavigating Physical and Emotional Stress and Noticing Where It Shows Up In Our Body As A Rare Disease Caregiver - With Christy Foster
ONCE UPON A GENE - EPISODE 239 Navigating Physical and Emotional Stress and Noticing Where It Shows Up In Our Body As A Rare Disease Caregiver - With Christy…
Once Upon A GeneWhere the Glimmers Can Surface
ONCE UPON A GENE - EPISODE 238 Where the Glimmers Can Surface We were at our beloved park— the one we helped renovate to be inclusive and accessible, then made…
Once Upon A GeneJoin Us for The Global Genes Week In Rare
ONCE UPON A GENE - EPISODE 237 Join Us for The Global Genes Week In Rare The 2024 Global Genes Week in RARE is happening in Kansas City, MO from September…
Once Upon A GeneRare Disease Research - Insights from Charles River Labs with Roxana Redis and David Fischer
ONCE UPON A GENE - EPISODE 236 Rare Disease Research - Insights from Charles River Labs with Roxana Redis and David Fischer Charles River Labs is a rare…
Once Upon A GeneRare Connections in NMOSD (Neuromyelitis Optics) - Finding Strength in Community and the Power in Asking for Help with Craig Klein
ONCE UPON A GENE - EPISODE 235 Rare Connections in NMOSD (Neuromyelitis Optics) - Finding Strength in Community and the Power in Asking for Help with Craig…
Once Upon A GeneChasing Glimmers - Illuminating Hope and Lessons in the Rare Disease Journey - Finding Glimmers for a Happier, Healthier Life with Katie Lloyd
ONCE UPON A GENE - EPISODE 234 Chasing Glimmers - Illuminating Hope and Lessons in the Rare Disease Journey - Finding Glimmers for a Happier, Healthier Life…
Once Upon A GeneAre You Worried About Your Baby's Development - Enroll in Project FIND-OUT - You May Qualify for Free Whole Genome Sequencing
ONCE UPON A GENE - EPISODE 233 Are You Worried About Your Baby's Development - Enroll in Project FIND-OUT - You May Qualify for Free Whole Genome Sequencing…
Once Upon A GeneUnderstanding Genetic Counseling - Essential Insights for Parents – Navigating Appointments, Referrals, Testing, and Insurance with Expert Abby Turnwald MS CGC
ONCE UPON A GENE - EPISODE 232 Understanding Genetic Counseling - Essential Insights for Parents – Navigating Appointments, Referrals, Testing, and Insurance…
Once Upon A GeneBalancing Rare Disease Advocacy and Family - Navigating the Complexities and Embracing Imperfections with Nikki Stusick
ONCE UPON A GENE - EPISODE 230 Balancing Rare Disease Advocacy and Family - Navigating the Complexities and Embracing Imperfections with Nikki Stusick Nikki…
Once Upon A GeneUniting 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
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…
Once Upon A GeneEpisode 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 - EPISODE 228 Strength In Unity - The Power of Consolidated Rare Disease Advocacy, Collaborative Breathroughs, and the Every Cure Initiative…
Once Upon A GeneBringing Balance Back to the Language of Disability from The Special Needs Mom Podcast with Kara Ryska
Connect with Kara, host of The Special Needs Mom Podcast: Instagram: https://www.instagram.com/thespecialneedsmompodcast/ Website: https://www.kararyska.com/…
Once Upon A GeneFrom 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 - EPISODE 226 From Classrooms to Communities - Parents Visionary Journey in Education, Living, and Advocacy for Inclusion and Epilepsy Funding…
