Luca
SPATA5L1(AFG2B)
Parents
Mariah & Nicholas
Location
Palm Coast
Florida
United States
Age at Diagnosis:
1.5
Birthday:
October 7, 2021
What did it feel like when you received this diagnosis?
When we received Luca’s SPATA5L1 diagnosis, it was mostly confusion—like being handed a single research paper in a language I didn’t understand and expected to somehow grasp what it meant for our child. The words were completely unfamiliar, and nothing was explained in a way that felt immediately real or clear in that moment. I remember trying to latch onto anything understandable while mostly just feeling lost, like I was hearing something important but couldn’t translate it fast enough to keep up.
How has this disorder affected your child?
SPATA5L1 has affected Luca across every part of his daily life. He is physically disabled and non-ambulatory, relying on support for mobility and care throughout the day. He is G-tube dependent for all nutrition and hydration, and has drug-resistant epilepsy that requires constant monitoring and management. He is also deaf and uses cochlear implants to access sound, though processing remains complex. Each of these challenges layers on top of the other, shaping a life that is deeply supported and carefully managed, but also full of resilience in how he continues to engage with the world in his own way.
Who is your child outside of their diagnosis?
Outside of his diagnosis, Luca is just… Luca. He is funny in a way that sneaks up on you, telling jokes through his eye gaze device that catch people off guard and make them laugh when they least expect it. He lights up being outside—especially at the beach—where he seems calmer and more himself, like the world finally matches his pace. He loves swinging, the feeling of movement and freedom, and he’s happiest surrounded by his family, people he knows well, and his pets who feel like part of his safe little circle. Underneath everything medical, he is social, observant, and very much connected to the people he loves.
If a family just received this diagnosis today, what would you want to tell them?
It’s okay to feel overwhelmed and confused—because it really is a lot, and it doesn’t make sense right away. You don’t have to figure it all out today.
The diagnosis explains some of the challenges, but it doesn’t define your child. That part comes later, slowly, as you learn and build support. Your child is still your child—full of personality, love, and moments of joy that have nothing to do with any label.
What helps keep you going on the tough days?
Luca. His smile that shows up even when everything else feels heavy, and his laugh that cuts through the stress like a reminder that he’s still here, still happy in his own way. Those moments feel small from the outside, but for us they’re everything. They reset the day, even when nothing else has gone right, and remind us why we keep showing up for all of it.