Matteo’s Story
Matteo is a 13-year-old boy from New Westminster, British Columbia, Canada. According to his mom, Christa, “Matteo is a bright and funny guy. Nobody can make me belly laugh like he does." He is goofy, imaginative, creative and talented with music. Matteo is passionate about his interests, very sweet, and sensitive. Due to CACNA1A, Matteo struggles with daily headaches and finding ways to participate in activities because he fears not feeling well and what that means for him.
Variant: F1796X
History
“Episodes” that we now know are a part of CACNA1A-related disorders led us to Matteo's CACNA1A diagnosis. At six months old, we first realized that Matteo's development was not typical due to issues we saw with his gross and fine motor skills, balance and coordination. A few times, he had issues whereby he had difficulty using one side of his body when he was crawling. Matteo’s mom recounts that the most terrifying was when his body once went limp while she was bathing him. Like most children with CACNA1A, Matteo exhibited paroxysmal tonic upgaze (PTU). As an infant, he had a series of febrile seizures and experienced cyclical vomiting, vertigo, and ataxia. Otherwise, he met his developmental milestones appropriately.
As a result of his ataxia, Matteo has a hard time walking and struggles with daily headaches. As he has gotten older, he's developed complicated and basilar migraines. He has difficulty finding ways to participate in activities because he fears not feeling well and what that means for him. For example, participating in physical activity will often trigger an episode. As a result, he spends a lot of time being inactive.
Acetazolamide helps minimize the number of episodes Matteo has. Unfortunately, no other therapies have been helpful as of yet.
Diagnoses
In addition to his CACNA1A diagnoses (which include ataxia, vertigo and basilar migraines), Matteo has ADHD and ODD tendencies, low frustration tolerance, and a hard time with anger and impulse control.
Education
Matteo has been tested for a learning disability but was found to be meeting most criteria, even though he is at the low end of the threshold in some areas. He will soon be evaluated for autism. He has an Educational Assistant (EA) at school who provides him with support as needed.
For Those Newly Diagnosed
My advice to newly diagnosed families is to reach out to others who have this diagnosis and get some support. The other critical piece of advice I have is to advocate for your child and remain steadfast in searching for answers and help.