Born in December 2015, Weston is fun-loving, energetic, and passionate about sports. Baseball is his game. From the outside, he looks like exactly what he is — a kid who loves to compete, move, and be in the action. The signs that something deeper was happening came gradually, and quietly.
At age 5, Weston failed a routine school hearing test. The evaluations that followed brought diagnoses of ADHD and Oppositional Defiance Disorder — explanations that accounted for some of what his family and teachers were seeing, but not all of it. A year later, a formal evaluation confirmed bilateral sensorineural hearing loss, and he was fitted with hearing aids. Around the same time, his teacher noticed something else: mild tremors in his hands, and early signs of learning difficulty.
"Subtle muscle loss has been observed — but it hasn't slowed him down. Weston is still on the field, still competing, still showing up."
At age 7, his family pushed for answers. Extensive testing followed — brain MRI, heart MRI — both returned normal. The mystery deepened. Two years later, at age 9, full genome testing finally provided the answer: SMA-PME. A 24-hour EKG detected mild absence seizures. Medication was initiated.
Weston's diagnosis arrived later than many children in this community — a reminder that SMA-PME can move at different speeds, and that early detection matters. He continues to play sports. He continues to be himself. And his family continues to fight for the research that could change what comes next.
Failed hearing test at school; ADHD and ODD diagnosed.
Bilateral sensorineural hearing loss confirmed; fitted with hearing aids; hand tremors noted by teacher.
Extensive testing to find cause of hearing loss; brain MRI and heart MRI both normal.
SMA-PME confirmed via full genome testing; mild absence seizures detected on 24-hour EKG; medication initiated.
Join Our Mission
For every child like him.