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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, and

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All Episodes

42:56

Smarter Speech: How Q-Voice Is Changing AAC for...

Once Upon A Gene ·

2025/10/24

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 intuitive, visual, and human.In this episode, we talk about: The real-life limitations of traditional AAC systems How Q-Voice uses GIFs, emojis, and real-world icons to keep learners engaged

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46:37

Why Genetic Testing Matters: The Case for Genetic...

Once Upon A Gene ·

2025/10/16

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 Charles, a 27-year-old living with Phelan-McDermid syndrome, and how one test unlocked a world of understanding, care, and connection. Together, Effie and Geraldine dig into the real-world impact of genetic

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38:28

Mini Brains in a Dish: Organoids and the Future of...

Once Upon A Gene ·

2025/10/02

In this episode of Once Upon a Gene, Effie sits down with Dr. Maya Gosztylafrom 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. They’re giving researchers and families new ways to study disease, test drugs, and imagine personalized treatments. Effie and Maya talk about: What organoids are and why they matter for rare diseases

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53:58

Healing in the Mess: Storytelling, Friendship &...

Once Upon A Gene ·

2025/09/04

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 you open with honesty and tenderness, then making you laugh through the tears. We talk about: How storytelling helps us heal and connect Grief, Joy, Love - all living side by side The

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23:46

15 Years of Simons Searchlight: Dr. Wendy Chung on...

Once Upon A Gene ·

2025/08/28

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 conversation highlights the significance of family connections and the collective effort in advancing research and treatment options for neurodevelopmental disorders.takeawaysThe understanding of autism

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24:32

A Rare Collection - Rare Disease Storytelling with...

Once Upon A Gene ·

2025/06/12

ONCE UPON A GENE - EPISODE 100A 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, sharing a story with a common theme. Kyle Bryant, Jennifer Sideman, Liz Morris, and Ashley Fortney Point share stories of rare disease. EPISODE HIGHLIGHTS Kyle Bryant, Living with Friedreich’s

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42:47

Finding Joy in the Journey: A Guide for Parents of...

Once Upon A Gene ·

2025/06/05

Discount Code for 20% off: ONCEUPONAGENEChelsea 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 so much fun chatting with these bright lights as they shared how a spontaneous Instagram Live turned into a lifeline for parents of medically complex kids. They unpacked those “garage-floor” prayers,

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33:12

From Beast Games Champ to Rare Disease Warrior: Jeff...

Once Upon A Gene ·

2025/05/15

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 CTD.While patients with CTD have the necessary AGAT and GAMT enzymes to form creatine, the creatine transporter does not function properly. This results in creatine in the bloodstream, but not in the brain and

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32:49

GeneDx Launches Cerebral Palsy Genetic Testing Pillar...

Once Upon A Gene ·

2025/05/01

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.We talk about: GeneDx’s new commitment to the cerebral palsy community and why every CP diagnosis deserves a genetic test How families can access exome and genome testing through telehealth

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34:00

Empowered Kids - Painless Labs :O'Ryan Health’s...

Once Upon A Gene ·

2025/04/18

Turning Kids into Superheroes of Science with O’Ryan HealthThe 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 reimagining care? In this episode, I’m joined by Dr. Tim Coleman, co-founder and COO of O’Ryan Health, a company flipping the script on pediatric research. Their breakthrough Artemis Platform is a child-friendly,

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53:11

Navigating the Complexities of Grief: How One...

Once Upon A Gene ·

2025/03/27

In this heartfelt conversation, Heather Straughter shares herprofound 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 acknowledging loss, the unexpected triggers that can arise, and her evolving perspective on grief hierarchies. Through her experiences, she emphasizes the significance of finding one's own way to cope and the

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44:38

Reimagining Pediatric Healthcare: How Imagine...

Once Upon A Gene ·

2025/03/20

Reimagining Pediatric Care with Imagine PediatricsFor 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 by Taylor Beery, co-founder of Imagine Pediatrics, Jody Copp, a full-time rare disease dad of two boys with Combined oxidative phosphorylation deficiency type 13 associated with a mutation in the PNPT1

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32:21

How a Service Dog Helped a Child with CACNA1C-Related...

Once Upon A Gene ·

2025/03/06

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 Yammy, his service dog, into their family, everything changed. Yammy didn’t just provide companionship—he unlocked a level of independence and confidence that Sue never imagined possible for her son.Sue shares

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33:32

Unlocking Rare Disease Diagnoses with PacBio’s...

Once Upon A Gene ·

2025/02/27

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 detect. Plus, if you've already had whole genome sequencing without finding an answer, Christian explains why it might be time to take another look.We also dive into the future of genetic testing, what needs

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45:09

Prioritizing Caregiver Health: Gut Health, Stress,...

Once Upon A Gene ·

2025/02/20

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 a functional integrative health practitioner, about the small but powerful changes we can make to support our own well-being. Fraser understands the unique challenges rare disease caregivers face—chronic

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33:24

Breaking the Silence: Growing Up with Sickle Cell,...

Once Upon A Gene ·

2025/01/30

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, hospitalizations, and the daily challenges of living with a chronic illness—all while navigating school, friendships, and a world that often didn’t understand his struggles.Now, as an advocate and author,

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38:56

Lighting the Way: A Story of Love, Friendship, and...

Once Upon A Gene ·

2025/01/23

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 of a foundation dedicated to empowering families, fostering connections, and encouraging others to find strength in the face of challenges.We explore how their mission encourages fighting for meaningful

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42:57

Preconception & Prenatal Genetic Testing 101: A...

Once Upon A Gene ·

2025/01/16

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 parents—especially those who already have a child with a rare disease. Natalie also sheds light on Variants of Uncertain Significance (VUS) and offers insight into talking with family members about genetic

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39:57

Transforming Pediatric Rare Disease Research: Dr....

Once Upon A Gene ·

2025/01/09

Show Notes: Transforming Pediatric Rare Disease Research with Dr. Ramin EskandariIn 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 dedication to helping children and families has driven him to create a system that collects and preserves valuable CNS samples—residual materials that would otherwise be discarded. We discuss the incredible impact

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31:30

Eight Years of Searching: A Determined Family’s Quest...

Once Upon A Gene ·

2025/01/02

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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