Once Upon A Gene

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 a rare disease, Matt received a cold recruiter call for a CFO role at Neurocrine Biosciences — a compan...

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 feelings around these choices can change over time, and why these conversations matter in the rare diseas...

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 fighting for his older son Liam, who is also battling the same condition. Bryan shares the pre-diagnosis stru...

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 CEO of Nome to discuss how AI is revolutionizing personalized medicine for the smallest rare disease comm...

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 experiences. The conversation is tailored for parents raising children with disabilities, focusing on...

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 up for caregivers (especially around time, perfectionism, trusting your gut when doctors gaslight you,...

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? For caregivers, this can show up as sacrificing your time, identity, health, and needs just to keep eve...

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 safe… but can also slam the door shut, shout “It’s not fair!”, and feel completely powerless when life get...

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 Jameson’s diagnosis when grief, loneliness, and hopelessness felt all-consuming. She talks about crying h...

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 syst...

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 under...

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. They’re giving researchers and families new ways to study disease, test drugs, and imagine personalized treat...

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 story...

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 re...

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, sharing a story with a common theme. Kyle Bryant, Jennifer Sideman, Liz Morris, and Ashley Fortney Point...

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 so much fun chatting with these bright lights as they shared how a spontaneous Instagram Live turned i...

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 transpo...

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 deser...

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 reimagining care? In this episode, I’m joined by Dr. Tim Coleman, co-founder and COO of O’Ryan Health, a company...

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 acknowledging loss, the unexpected triggers that can arise, and her evolving perspective on grief hierarchie...

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 by Taylor Beery, co-founder of Imagine Pediatrics, Jody Copp, a full-time rare disease dad of two boys...

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 u...

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...

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 supp...

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 schoo...