Once Upon A Gene

In this episode of Once Upon a Gene, Effie talks with Brandon Boyd, father of two and author of Delighting in Ben, about raising his son Ben, who lives with FOXP1 syndrome, and the shift from trying to change his son's future to learning to appreciate the person right in front of him.

Brandon shares the grief he experienced in the early years, the pressure to pursue every therapy, and the loneliness of navigating disability as a dad before genetic testing and online communities were widely available. He also shares a turning point during an ordinary trip to McDonald's that changed how he connected with Ben.

Together, Effie and Brandon talk about the different ways parents carry grief, the importance of emotional support for fathers, the realities of dividing and conquering as a family, and the unexpected places where connection and joy can be found. From garage doors and car rides to football games and family holidays, this conversation explores what it means to let go of the life you imagined without losing sight of the life you're living.

Resources & Links

Delighting in Ben by Brandon Boyd — Available on Amazon or through your local bookstore

A note from our sponsor

This episode is sponsored by Citizen Health, creator of Ari, an AI teammate for rare disease families. Ari helps families track symptoms, recognize patterns, organize medical information, and draft insurance appeals using supporting records, all through text.

Learn more at ⁠citizenhealth.com⁠.

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 of the event, and why connection matters when you’re navigating epilepsy.

The expo brings together families, clinicians, hospitals, researchers, and companies working in epilepsy. Across two days, attendees can hear expert presentations on epilepsy basics, EEGs, surgery, treatment options, clinical trials, and genetic epilepsies. Brad also shares how the event grew from a community day at Disneyland into a major gathering—and what he hopes families take away from it.

Epilepsy Awareness Day at Disneyland takes place November 16–18. The two-day expo is free with registration; Disneyland admission is separate. After registering for the expo, attendees can access a link for a discounted park ticket. The event also includes a concert and dance party on Tuesday evening, followed by a day at Disneyland on Wednesday.

For registration, the schedule, and event details, visit Epilepsy Awareness Day.

Epilepsy Awareness Day on Instagram

This episode is sponsored by Citizen Health and Ari, an AI teammate for rare disease families. Ari brings your medical records and updates together, then helps you prepare for appointments with a clear summary, questions to ask, and messages for your care team.

Learn more at citizenhealth.com.

Citizen Health on Instagram

Thanks for listening to Once Upon a Gene! If this episode lit a spark, share it with a fellow rare disease family and help us spread the word about Epilepsy Awareness Day at Disneyland.

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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 of progressive illness, and how Laurel stays present with Amelia while making memories now.We discuss Laurel’s perspective as a mom, the impact on Amelia’s brothers, the role of community, and the hope she sees in current research and clinical trials. Effie Parks and Laurel also talk openly about grief, joy, sibling dynamics, and what it means to keep moving forward when the future feels uncertain.Key topics

Timestamps00:00 - Warm welcome and catching up after Rare Disease Day Cruise

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, I’m brainstorming about comparison in parenting our kids with disabilities, including my own moments of seeing other children with CTNNB1 syndrome reach milestones and wondering whether I missed something with Ford. I know how much I’ve poured into supporting him. And yet, sometimes that little voice still asks, “Did I do enough?”

I explore how comparison slips into guilt and shame, why it can hit harder when we’re tired or overwhelmed, and how it creates silence within the very communities we turn to for connection. Some families hesitate to share their hardest days. Others hold back their good news.

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 mama tells the truth. The next one doesn’t have to start from nothing. The piece that was missing finds the piece that was waiting, and suddenly the whole line can move.

Little bites from the women in that room, recorded and stitched together as a memento for them and a field guide for anyone who needs one. Think of it as a pocket bible of mama wisdom: the advice they wish they’d heard sooner, the lines they keep repeating to each other, the stuff that only lands when it comes from someone who’s lived it.

You’re not alone. A tribe can be built wherever you are. It takes work. It’s worth it.

Thank you, Colorado Mama Tribe, for letting me see what falling into place can look like for all of us.

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 company actively developing a treatment for CAH. He and his wife Brittany made the leap of faith, moving their family from Indiana to San Diego. Matt kept his personal connection private for years so he could lead objectively. Eventually, he shared his story in an emotional all-company meeting. Ian later became the first patient to receive the newly approved medication. Matt opens up about being a “dadvocate,” the role of faith through the hardest times, what he would tell his overwhelmed past self, the importance of seeking expert care, and communicating with your spouse. It’s a powerful, hope-filled conversation about divine timing, resilience, and the human side of drug development.

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 disease community.

The episode also touches on planning ahead, the emotional side of these decisions, and the importance of having these talks before a crisis hits.

In this episode:

Links:

Listen now and subscribe for more conversations on rare disease life, advocacy, and family stories.

Bryan Docobo — attorney, father, rare disease advocate, and

Coats Foundation

LUMENARY Instagram

Bryan's Instagram

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 communities. Diagnosed at 17 with an ultra-rare inherited retinal disease caused by mutations in the KIZ gene (and later learning his younger sister Natalie shares the exact same diagnosis), Steven refused to accept the doctors’ advice to “learn braille and prepare to go blind.”

Instead, he built a 501(c)(3) to develop custom gene therapies and then launched Nome, an AI operating system that makes personalized therapies faster, cheaper, and accessible even to the tiniest patient advocacy groups. Since the original recording, Nome has exploded: they closed a $2.7 million seed round and their AI platform is now live at nome.bio

Steven shares the deeply human side of rare disease, the operational bottlenecks that hold back small patient-led efforts, and how Nome’s AI acts as the “quarterback” to coordinate experts, manufacturers, and regulators — turning “maybe” into clear, actionable next steps.

Thanks for listening to Once Upon a Gene! If this episode lit a spark, share it with a fellow rare disease family and help us spread the word about Nome. See you in the next episode!

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 the real, repeated feelings of powerlessness, fear, and exhaustion—and how to alchemize them by dancing between the Victim and the Warrior. Christy guides listeners through noticing victim language and patterns, invoking the Warrior for sacred action (like holding your child during medical procedures), repairing afterward, asking for/receiving help, reparenting the inner child, and interrupting mental loops. Effie shares personal stories about hot yoga as repair, using cowgirl boots as a power object, and the daily reality of “going ice” (dissociating) vs. staying embodied as the Warrior. The episode is compassionate, practical, and full of simple tools you can put on your fridge or bedside table today.

Subscribe to Christy’s podcast: No One is Perfect

⁠Once Upon a Gene Episode 29: Oxygen Masks & Motherhood with Christy Foster⁠

⁠Once Upon a Gene Episode 239: How Stress Shows Up in the Body as Real Pain with Christy Foster⁠

If this episode touched you, please share it with another rare disease or special needs parent who needs to hear that they’re not alone — and that hope can come back. 💛

Thanks for listening!

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