Once Upon A Gene

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 In this episode, Laurel introduces Amelia as a creative, funny, and spirited 10-year-old who lives with Friedrich’s ataxia and still brings a lot of joy into the family. Laurel walks through the early signs that something was wrong, from leg pain and exhaustion on a family trip to France to frequent falls, clumsiness, and coordination issues at school. She describes the diagnosis process: physical therapy noticing neurological symptoms like nystagmus, head tilt, scoliosis, and difficulty standing with eyes closed, followed by an ER visit and later genetic confirmation. We discuss the genetic side of Friedrich’s ataxia, including FXN gene mutations, GAA repeat expansions, and why early-onset cases like Amelia’s tend to progress much faster. Laurel shares the emotional weight of learning that both parents are carriers and that Amelia’s diagnosis is life shortening, which brought a deep grieving process for the future they expected. The conversation explores grief in waves and how Laurel experiences it in “installments” as Amelia loses abilities, while still trying not to get stuck in future fear. Laurel talks about staying present by focusing on Amelia herself, saying that time with her is the best therapy and the biggest source of joy. Effie and Laurel compare notes on parenting through disability, including the pain of seeing other kids move freely and the challenge of not letting comparison take over. They dig into one especially hard moment involving a denied disability pass for a Disney trip, which became a reminder that small logistical battles can hit harder than they seem. Laurel describes how she tries to make memories now, including a hand and footprint art project for Amelia’s “last steps,” and why she’s pushing to travel while Amelia can still navigate more easily. The episode highlights sibling dynamics, including the so-called glass child experience, how her two boys respond differently, and how Laurel tries not to turn them into caregivers. They close on hope, including community support, rare disease connection, a clinical trial Amelia is participating in, and the broader progress in research for FA. Stay present, not predictive Grief and joy can coexist Memory-making as resistance Community as therapy If you’re parenting through a rare or progressive diagnosis, look for community connection rather than carrying it alone. Make room for joy now, even if it feels awkward or premature. Capture moments while your child can still participate, whether that means travel, art, or simple family rituals. Be honest about sibling dynamics and protect children from unnecessary caregiving pressure. Timestamps00:00 - Warm welcome and catching up after Rare Disease Day Cruise 02:07 - Amelia’s upcoming Make-A-Wish trip to Santorini 03:20 - Who Amelia is and what Laurel wants listeners to know 04:03 - First signs something was wrong during a family trip to France 05:30 - School concerns, PT referral, and neurological symptoms 06:29 - ER visit and the first time they heard hereditary ataxias 07:48 - Genetic confirmation of Friedrich’s ataxia 08:16 - Processing a life shortening diagnosis 09:48 - Why children can be diagnosed with FA while many people meet adults with it first 10:06 - FXN gene, GAA repeats, and why early onset is more severe 11:27 - Grieving as the parent who knew Amelia before the diagnosis 13:00 - Grief in waves and “installment plan” losses 14:03 - Amelia’s personality and why the diagnosis has not fully hit her yet 15:02 - Watching other kids move and feeling the contrast 16:17 - Redirecting away from future fear 17:20 - Staying present with Amelia as the best way to find joy 18:18 - Signs of slipping into a harder grief day 19:08 - The Disney disability pass denial and why it hit so hard 21:39 - Making memories now while Amelia can still do more 23:06 - Amelia’s “last steps” art project and the emotion around it 25:08 - Where the artwork lives and sharing it with family 26:08 - Amelia’s creativity and the impact on her brothers 26:41 - The boys learning about FA and the family’s different sibling dynamics 27:30 - Balancing fairness, safety, and caregiving boundaries 31:13 - Why Laurel avoids making the younger son a caregiver 33:16 - What joy FA has unexpectedly brought into Laurel’s life 34:10 - Finding family, belonging, and empowerment in the FA community 36:18 - Community as therapy and the value of diagnosis 37:31 - Different ways people may connect with rare disease communities 38:20 - Rare at Sea and the leaders who helped shape the community 38:49 - Fear of regret and Laurel’s desire to use time well 40:02 - Wanting Amelia’s story to be about love and adventure, not just diagnosis 41:04 - Hope in approved treatment, clinical trials, and gene therapy research 42:21 - Gratitude for community leaders and shared support 43:01 - Closing thoughts, brain fog, and wrapping upKey frameworksNotable quotesCopy“I have to be conscious, constantly conscious about staying present with her.”Copy“My love is greater than the fear that I have.”Copy“I want her to just think about a life that was experienced with love and adventure.”Action items

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: Hannah’s update on Austin and the L-CMD Research Foundation How the DNR conversation first came up for their family The personal and practical side of these decisions Why more open discussion is needed in the community Links: Hannah’s first appearance on the show (Episode 108): effieparks.com/podcast/episode-108-hannah-lowe-lcmd-research-foundation L-CMD Research Foundation Instagram Listen now and subscribe for more conversations on rare disease life, advocacy, and family stories.