Matteo’s Story 

Matteo is an 8-year-old boy from Fort Bragg, North Carolina. His mom, Brenda, writes that Matteo is a lovely caring boy who loves music and everything related to the water (beach, pool). He enjoys swings and rollercoasters, loves when the wind touches his face, and has the most beautiful smile and an incredible, contagious laugh. When he laughs, you will inevitably laugh with him. His parents want him to live the life most typical children live. They thank God for his life, living one day at a time and have a lot of Faith waiting on his miracle✨

Variant: Val1393Met (V1393M), denovo

History 

Matteo was induced at 37 weeks as his heartbeat was slowing down. After birth, he spent five days in the NICU because he had some tremors. The doctors did all the required tests at the time, but everything returned normal. At eight months old, Matteo was referred to Early Intervention for developmental delays. He was initially diagnosed with hypotonia in his central body and immediately began physical and occupational therapies. By 18 months old, he wasn’t speaking, so he started speech therapy.

At 21 months old, during a “cold,” he had his first seizure. Matteo was already being seen by a neurologist for his developmental delays, but every test and study that she sent to perform on him (MRI, CT Scan, blood work for his muscle bones, etc.) had come back negative. At that time, Brenda requested additional genetic testing, and the results were positive for CACNA1A gene mutation!

Matteo struggles with speech and communication, and motor skills. He is nonverbal. He started walking independently a month before turning five but tires quickly. While he is unable to do most self-care skills by himself, such as taking a shower, eating, and getting dressed, he knows how to change the videos on his Ipad! 😂 🤷🏻‍♀️

Other Diagnoses:

Epilepsy/autism/global developmental delays

Therapies

Speech therapy
Physical Therapy
Occupational therapy
Applied Behavior Analysis (ABA)

For Those Newly Diagnosed

Never stop advocating for your child! Look for and, if necessary, move to find a doctor that cares and hears you. But also remember to live one day at a time. Celebrate each inchstone or milestone. Everything counts!