PODCAST · society
Once Upon A Gene
by Effie Parks
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
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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
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 Friedrich’s ataxia at age 8 after early signs showed up around age 5. This conversation covers the path to diagnosis, the emotional reality...
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ONCE 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 walk, talk, and eat - why do they think this is so hard?” We don’t love admitting it. But maybe we could talk about it. In this Effisode…
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ONCE 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 some of it. And what hasn’t been solved yet already has bones. That’s the falling into place. Not one perfect click. More like dominoes. One...
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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
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 diagnosed with classic congenital adrenal hyperplasia (CAH) at age two. While navigating the overwhelm, fear, and daily stress of managing…
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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
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 experience with her son Austin and how the conversation around DNRs came up for their family. They talk about the decision-making process, how...
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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
Bryan Docobo — attorney, father, rare disease advocate, and founder of the Coats Plus Foundation. Bryan opens up about the devastating journey of losing his four-year-old son Ethan to Coats Plus Syndrome (a rare telomere disorder caused by a CTC1 gene mutation) in June 2024, while fiercely…
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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
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 powerful conversation, Effie Parks sits down with Steven Ringel — patient, sibling of a patient, founder of the Kizuna Foundation, and…
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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
In the final episode of their four-part archetype series, Effie Parks and archetype expert Christy Foster explore the Victim Archetype—represented by the Cowardly Lion in The Wizard of Oz. They emphasize that archetypes are neutral energies (as taught by Carl Jung and Caroline Myss) that everyone...
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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
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 that second-guesses you, overthinks everything, and talks you out of what you actually want and need. We explore how this archetype shows…
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ONCE 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 Archetype—also known as the Worth/Value archetype. This pattern asks:What part of myself am I trading for approval, peace, love, or survival?...
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Caregiver 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 refreshingly different conversation. Christy will introduce the Child Archetype—the part of us that longs to belong, dream big, and feel…
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From 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 daughters and her adorable son Jameson, who has the ultra-rare Hereditary Spastic Paraplegia SPG3A. Brittni shares the raw season after...
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Smarter 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 daughter Quinn struggled to connect through traditional speech apps, Lana and her husband decided to build something better—something…
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Why 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 new movement empowering families to take control of their genetic testing journey. Geraldine shares her decades-long experience as mom to...
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Mini 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 disease research - organoids. These “mini brains in a dish” are clusters of real human brain cells grown from a child’s stem cells.…
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Healing 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 insightful Emma Nadler - psychotherapist, author of The Unlikely Village of Eden, rare mom, and truth teller. Emma has a way of cracking...
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15 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 Searchlight in patient advocacy. She emphasizes the importance of community support, global inclusion, and the hope for future therapies. The...
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A 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 storytelling- for the listener and the storyteller. A Rare Collection is a monthly series featuring people from the rare disease community,...
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Finding 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, meltdowns, and endless therapies feel like they’re winning, there’s still room for belly laughs, tiny victories, and yes, a slice of cake. I had...
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From 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 is also referred to as SLC6A8 Deficiency, CRTR, and X-linked Creatine Transporter Deficiency.Mutations in the SLC6A8 gene result in...
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GeneDx 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 genomic databases—and she’s here to share two exciting updates that could change everything for rare families and patient advocacy orgs.…
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Empowered 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 behind hospital walls or research centers far from home. But what if science came to you? What if kids could lead the charge in…
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Navigating 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 that shaped her path, the importance of community support, and the ongoing nature of grief. Heather reflects on the complexities of...
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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
Reimagining Pediatric Care with Imagine Pediatrics For families of medically complex kids, the healthcare system often feels broken—long hospital stays, insurance battles for basic needs, and constant caregiving without real support. But what if there was a better way? In this episode, I’m joined...
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How 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 joined by Sue Bresnahan, a pediatric nurse and rare mom, whose son has CACNA1C-related disorder (Timothy Syndrome). When they welcomed…
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Unlocking 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, how this technology is helping families solve their diagnostic odyssey, and why some genetic tests miss key information that PacBio can...
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Prioritizing 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 know where to start when it comes to your own health, this episode is for you. I’m talking with Fraser Bridgeman, a fellow CTNNB1 mom and…
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Breaking 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 years old, James spent much of his life keeping his condition a secret, fearing how others would perceive him. He faced excruciating pain,...
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Lighting 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 incredible Lottie, who lives with a CERT1 mutation. The Rogers share the heartfelt story of how their journey with Lottie led to the creation…
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Preconception & 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 explore the basics of carrier screening, how to interpret results, and the importance of genetic counseling for both new and experienced...
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Transforming 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 at MUSC who is revolutionizing rare disease research through his innovative work with biorepositories. Dr. Eskandari shares how his...
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Eight 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 their family’s advocacy here: KCAL Rare Disease Coverage
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Chasing 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 disease journey can be, but we also believe in the incredible power of connection, bravery and positivity. We'll share inspiring stories...
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The 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 carry every day. The expectations, the comparisons, the logistics of making life work for our kids—it all feels louder somehow. This...
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Grateful 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 individuals with Dravet syndrome – including families, caregivers, clinicians, researchers, and biopharmaceutical professionals. It provided a...
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Ready 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 journey of breaking barriers in the skies, working tirelessly to make air travel more accessible for wheelchair users and the broader disability...
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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
ONCE UPON A GENE - EPISODE 133 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 Mary-Frances Garber is a Genetic Counselor who has a private…
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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 Gillaspie Mariah Gillaspie is the mom of Abby and Emma, who both have a genetic condition called THAP12, and they're the only known patients in…
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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 through the darkest of times. Like you, Katie and I know how challenging the rare disease journey can be, but we also believe in the...
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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 online conversations around friendships lately and we've all experienced a ghost ship of friends or people who disappeared or didn't show up…
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Chasing 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 shine through the darkest of times. Like you, Katie and I know how challenging the rare disease journey can be, but we also believe in the...
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A 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 little Leo, the Founder of the TNP02 Foundation, a remarkable and brilliant advocate, and she's nothing short of extraordinary. EPISODE...
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Navigating 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 Foster Joining me today is my sister, Christy Foster. We're talking about caregiver stress, stress-related pain, how and why it shows up…
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Where 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 a trip to a nearby grocery store nearby. Ford loves automatic doors. The grocery store has the usual automatic doors at the entrance, but...
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Join 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 25-28th. This is a powerhouse week packed with three incredible advocacy events that you can't miss— the Rare Equity Forum, the Rare Advocacy...
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Rare 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 disease research and drug development powerhouse and their work leads to life-changing treatments. I'm joined by Roxana Redis and David Fischer…
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Rare 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 Klein My guest, Craig Klein, has been living with Neuromyelitis Optics Spectrum Disorder (NMOSD) for 8 years. He shares his challenges,...
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ABOUT THIS SHOW
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.
HOSTED BY
Effie Parks
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Frequently Asked Questions
How many episodes does Once Upon A Gene have?
Once Upon A Gene currently has 363 episodes available on PodParley. New episodes are automatically indexed when they're published to the podcast feed.
What is Once Upon A Gene about?
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...
How often does Once Upon A Gene release new episodes?
Once Upon A Gene publishes regularly with 363 episodes available. Check the episode list for the typical release schedule.
Where can I listen to Once Upon A Gene?
You can listen to Once Upon A Gene on PodParley by clicking any episode. We provide an embedded audio player for direct listening, and you can also subscribe via your preferred podcast app using the RSS feed.
Who hosts Once Upon A Gene?
Once Upon A Gene is created and hosted by Effie Parks.
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