Gabe’s Story 

Gabe was and is an answer to prayer. As his mom, I had been diagnosed by a fertility specialist with PCOS, and was told I had a very small chance of having another baby. We were devastated.  We chose to go a less invasive route and begin an oral medication, and two months later, I was pregnant! Despite all that Gabe faces, and how challenging his life is, we are so thankful for him. He has taught me, and my other children, what it means to truly love. He is very much a typical boy-he loves Mickey Mouse, trains, cars, and most of all, his siblings.

Variant: R1349Q

History 

Gabriel is affected by the R1349Q variant of CACNA1A and is currently 3.5 years old. Our family lives outside of Atlanta, Georgia, in the United States. I'll never forget when I noticed something wasn't right. It was Valentine’s Day, and I wanted a picture of him in his snappy outfit.  I could not get him to look at me or the camera. His eyes didn't follow me. I tried for a month to get him to make eye contact.  Despite my efforts, he would not. A month later, a friend picked him up out of his car seat, and his head flopped backwards just like a newborn. Out of concern, she pointed this out and I added to my list of questions for his pediatrician. By the time he was three months we were referred to an ophthalmologist. Other than strabismus and nystagmus, his eyes were healthy and we were told the root issue was neurological, he was diagnosed with global delay and referred to Neurology. From there we had a battery of tests to include an MRI, which revealed benign macrocephaly. EMG revealed that his nerves were healthy. They also diagnosed him with congenital hypotonia-in his case severely low muscle tone. After two rounds of genetics came back clear, we paused our search for answers, and put all of our energy and focus into therapy to increase his muscle tone.

At 15 months old, while on vacation, Gabriel had his first and only major episode. He was undiagnosed at the time, but had multiple seizures, vomiting, fever, and stopped breathing and was in the ICU for a week. To this day, we have no idea what caused the episode, or if he possibly had a migraine. Genetic testing revealed through whole exome sequencing that Gabe had the CACNA1A variant, R1349Q. He was also recently diagnosed with Ataxia. Gabe wears a helmet to protect his head not only from minor head trauma, but what these can lead to, hemiplegic migraines. We are always very careful with picking him up and transitioning him, as he is heavy, still quite floppy and can easily fall if not properly supported.

Gabe struggles with quite a bit. He just learned at 3.5 how to push himself up to a sitting position, but is unable to sit for more than a few seconds. He also began to army crawl around the same time. He's unable to communicate, but did learn a few signs; however, since 'lost' them.  He also said 'bye-bye' at one point and would wave, but not any longer. His neurologist believes he is displaying signs of cerebellar atrophy, which may be to blame. He is unable at this time to speak, walk or stand. Hypotonia also affects his bowels, and he is easily constipated.  Unrelated to CACNA1A, Gabe has life threatening food allergies to peanuts and sesame. Being non-verbal, and unable to communicate an anaphylactic event, we are hypervigilant with the foods, and are very limited where we can eat due to cross contamination. He makes our lives more interesting, that is for sure!  We believe his receptive language is significantly stronger than his expressive, and he is incredibly loving and easy going. He laughs at cartoons, babbles when looking at books, and can orient the pages correctly and turn them.  He's come so very far in all aspects, and we are proud of his hard work.

Education 

Gabe currently receives private Speech, Occupational/Aquatic Therapy and Physical Therapy. We are planning to add Hippotherapy to his schedule, as it has been recommended to increase his core and stability. We also found intensive therapy programs to be incredibly productive. Gabe recently attended a three-week intensive and it was after this that he began to army crawl, and push to a sit position.

He attended a public Special Needs Preschool Program at our local elementary school.  He has an IEP and receives ST, OT and PT, there as well.    

For Those Newly Diagnosed 

My advice to new families-take a deep breath. All of the 'what if’s' and possible outcomes are just that, possibilities. Not certainties.  I am often overwhelmed and anxious, but as a person of faith I lean into that faith, and my family for support.  Never stop searching and advocating for your child. Let others in.  For months after his diagnosis, I shut everyone out, as I didn't want to talk about his diagnosis. If needed, don't hesitate to seek counseling.