Leo’s Story
Leo is a happy two-year-old from Ohio who was diagnosed with a CACNA1A variant one year ago. According to his mom, Brittany, Leo is a social butterfly who loves running, jumping, and climbing. He’s already speaking in short sentences, can count to five, and knows his colors and some shapes. His seizures have been controlled since starting Keppra.
Variant: c.5422G>A (p.Ala1808Thr)
History
While Leo has not presented with developmental delay, he has had four febrile seizures that lasted 45 minutes each and required several doses of rescue meds to stop them. As a result, he was referred to genetic testing, which led to his diagnosis. His variant is considered likely pathogenic.
Diagnoses
Epilepsy
HCN1 mutation
Therapies
Currently, Leo does not receive any related services. He started physical therapy for torticollis when he was four months old.
For Those Newly Diagnosed
EVERY VARIANT IS DIFFERENT! Please don’t be discouraged but rather be encouraged to see all your child can do. Try not to compare!