Carlos’ Story 

Carlos is a five-year-old boy from Middleboro, Massachusetts. He is very loving, with a great and funny personality. He loves his sisters, enjoys playing outside and playing games on his tablet.

Variant: c.877G>A p.G293R

History 

Carlos was approximately four months old when I noticed that he was not doing things he should have been doing. He did not roll over until about six and a half months old and, as a result, developed plagiocephaly (a flat spot on the back or one side of the head caused by remaining in a supine position for prolonged periods.) He sat up unassisted at about 10.5 months and walked unassisted at 23 months.

We had Carlos’ older sister tested for genes related to intellectual disability due to concerns with her appearance and behaviors. Not only was she found to have the CACNA1A variant, but it was also discovered their father has it. Carlos initially had genetic testing due to a diagnosis of heterotopia (a brain malformation, due to abnormal neuronal migration, in which a subset of neurons fails to migrate into the developing cerebral cortex and remains as nodules that line the ventricular surface), which our doctors believed was the cause of his headaches and ataxia. However, our genetic specialists had the lab review Carlos’s results from three years prior, and, sure enough, he also had the same CACNA1A variant! It has taken us three and a half years to finally get answers for Carlos’s “episodes,” as we’ve come to call them. Now, we can start to treat everything properly.

Carlos has hypotonia, episodic ataxia type 2, hemiplegic migraine, and global developmental delays. Developmentally, he is about one to one and a half years behind his peers. He hasn’t had any seizures, but during a 24 EEG, his doctors found activity that could indicate high risk for seizures. Therefore, he is on Vimpat prophylactically. Carlos also has ADHD, periventricular nodular heterotopia, as mentioned, and a cyst on his right front temporal lobe.

Carlos has trouble with impulsivity, anger, social cues, and respecting others’ personal space. Cognitively, he is behind his peers and has difficulty with numbers, colors, etc. He also has gross motor and fine motor delays. He has trouble gripping his pencils and falls at times when running.

Education 

We are still working with therapies and have yet to decide what has been helpful. Carlos has an IEP for special education and receives social services, physical and occupational therapy.

For Those Newly Diagnosed 

We are a newly diagnosed family so I don’t have much advice other than to never stop looking for answers for your children!