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 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