Carter’s
Story
Carter is from Washington County, New York. His mom, Anastacia, writes that Carter is very outgoing and always so happy. He loves being around his family. He is very eager to learn and never gives up. “He’s a firecracker, for sure!”
Variant: c.4991 G>A (p.R1664Q)
Pathogenic de novo Mutation
History
Carter was diagnosed with a pathogenic CACNA1A variant in November 2023, when he was a year old. His family became aware that his development was not typical when he was around 6-7 months old. At 7-8 months of age, Carter was unable to sit up at all unless severely supported. He began crawling at 15 months old. At 16 months old, when this story was submitted, Carter was still not standing independently.
Due to his delayed development and motor skills, genetic testing was ordered by his neurologist leading to the CACNA1A diagnosis. Anastacia reports that they are just starting their journey and do not know what the future holds. However, Carter struggles with his balance. He is very wobbly and tends to fall or tip over a lot. He also struggles to stand up for a long period of time and tires very easily when working his muscles.
Therapies
Carter is part of the LEAP Headstart home-based program in Washington County, NY. He also receives early intervention services as well. Physical therapy has been extremely helpful. He also receives speech therapy and occupational therapy. With his amazing village of doctors, therapists, and social workers and the support from the CACNA1A Foundation, his mom knows he will “conquer anything and everything!”
Other Diagnoses
In addition to hypotonia, ataxia, paroxysmal tonic upgaze and global developmental delays related to the CACNA1A diagnosis, Carter also has sleep apnea due to his low muscle tone. His parents are also noticing more frequent upward staring spells.
For those newly diagnosed
As a newly diagnosed family ourselves, it's hard to hear, but always remember that you've got this, and we all have this tough fight together! We all love someone who is RARE ❤️
