Vedad (2024)

CACNA1E c.1054G>A p.Gly352Arg

Vedad was born in 2024, and the pregnancy was normal. At birth, he had problems with his feet which we resolved with casting at an orthopedist. At one month old, he started to arch his body and experience severe muscle spasms, which led to his first hospitalization. We visited many doctors and conducted all the tests that would explain his condition. Everything was fine, and in the end, we were waiting for the genetic results. The results showed a genetic mutation in CACNA1E. He has muscle dystonia. Central hypotonia causes the biggest problems, which means he has no control of his head, cannot sit or crawl. He is intensely undergoing physical therapy. Despite all the difficulties that have come into his life, Vedad is a cheerful, emotionally warm child. He very rarely cries, and most of the time he goes through his therapies with a smile. We hope and wait for the research to succeed and for a targeted treatment for his genetic mutation to become available.