Avery is hilarious. He is quite the jokester, especially with practical jokes. Be careful, or he'll trick you! When Avery grows up, we're sure he's going to be a comedian with a flair for drama. Avery loves animals. He has three cats and two dogs and loves to play with them. One of his favorite games is to play superhero / bad guy with his dog Rocky. He starts every day by giving his cat Autumn a big hug.​ Avery is also very active. He loves playing sports like soccer and baseball and playing outside with friends. Avery always has a blast playing in the pool and one day, he'll defeat the bad guy (the jet that shoots water...).​

Avery happens to have a pathogenic variant on his CACNA1A gene.

Variant: c.4991 G>A (p.R1664Q)
Pathogenic de novo Mutation

History 

Avery was born in late 2016, and his development was on track for the first nine months. During his 10th month, however, Avery had a noticeable regression with his milestones; he stopped doing things he had done before. For example, Avery stopped saying Momma, Dadda, and Elmo and stopped waving and playing pat-a-cake. His progression with standing stopped and he began to have increased difficulty holding himself up. So began our long journey toward a diagnosis.

His primary care doctor knew something was up and referred Avery to Occupational Therapy. By his first birthday, he began speech and physical therapy.

Around this time, Avery's sleep also began to decline and he'd wake up screaming throughout the night. He continued to try to stand and hold himself up while cruising along furniture but began to fall...a lot! We were eventually referred to a neurologist and geneticist. Four months after Avery's 2nd birthday, he received a diagnosis of a CACNA1A variant.

At that appointment, the geneticist handed us a packet of papers that contained a brief explanation of the gene and a study printed from the internet. She told us she wasn't familiar with the diagnosis and "maybe one of the people on the study might be able to give us more information." We were lost!

We never contacted a random researcher. We felt that if the geneticist didn't understand the diagnosis, we had little hope of understanding it ourselves. Before long, we found a small Facebook group with other families who had received the same diagnosis. That began our journey of discovery. We started to learn from other families, and them from us. A sense of community provided hope.

Currently six years old, Avery uses an Augmentative and Alternative Communication (AAC) device and a significant amount of American Sign Language (ASL) to communicate. For ambulation, he relies on a walker and a drop-support harness while at school and when navigating unfamiliar environments. He sleeps in a safety bed and rides an adaptive tricycle.

Diagnoses

Poor Balance (Ataxia)

Global Developmental Delays

Visual Impairment (CVI, Nystagmus, Strabismus, PTU)

Speech Impairments (Dysarthria)

Low Tone (Hypotonia)