MJ’s Story 

MJ is a very happy and social 4-year-old boy from Maryland. He loves music and singing (humming) along to the words, playing video games with his siblings, reading books, and watching his favorite movie, Toy Story.

Variant: c.4067 C>T (p.T1356I)

History

When MJ was about 4 months old, we noticed that he was not developing typically, like his older brother and sister when they were that age. He had a lack of head control, strabismus, and tremors. When he was 7 months old, we saw a neurologist. Shortly after that, MJ endured countless tests spanning the last 3 years, including chromosomal microarray, EEGs, MRI, spinal taps and metabolic labs. Every single test yielded a normal result. We then went to see a geneticist who ran the Whole Exome test, which revealed the CACNA1A variant.

MJ has global developmental delays, low muscle tone in his trunk, and spasticity in his ankles, knees, and hips. He's non-verbal and still has tremors, although they've improved significantly. At the present time, he can belly crawl and sit independently on the floor, but he is unable to walk or talk. He has been in PT, OT, and Speech since he was an infant. We have just begun to implement a picture exchange communication system (PECS) and he can point to things he wants.

Diagnoses 

• Hemiplegic migraine with seizure-like activity

• Cerebellar atrophy

• Spasticity

• Developmental delay

• Low muscle tone 

• Lack of coordination 

• Gait and mobility issues

Therapies & Education

Physical therapy has been most hopeful. MJ has also benefited from speech therapy and occupational therapy. I (mom) am a practitioner of behavior analysis and have found that using teaching methods based on principles of Applied Behavior Analysis (ABA) have worked well. He currently receives physical therapy and occupational therapy. Additionally, he attends a public special education school. He used to receive aquatic therapy when we lived in Florida.

For Those Newly Diagnosed

My best advice for newly diagnosed families is, first and foremost, to be the best advocate you can for your child. Also, don't be afraid to ask questions. Challenge the system if you don't feel like you're being heard. We were in a situation where MJ experienced his first hemiplegic migraine episode and seizures, and the physician in the emergency room sent him home without proper treatment and evaluation. We had to return to the hospital later that night and MJ ended up staying there for a week! Always trust your instincts. Finally, and probably most importantly, take care of yourself. Mental health is so important and often undervalued in our society. Lean on friends and family for support and ask for help when you need it.