Arthur Noah (2023)
CACNA1E 

Our son Arthur Noah was born in 2023, after an uneventful pregnancy and delivery. A big baby who delighted everyone who attended to us at the hospital. In the first few days, he had difficulty breastfeeding and, consequently, gaining weight. His little arms and feet were positioned unconventionally and his legs were not firm. Our "pilgrimage" to specialists began with several negative tests, but they indicated the need to continue investigating. Especially because as the months passed, the global delay in development became more evident - he could not crawl, stand or pronounce words. The exome result in June 2024 revealed a genetic mutation in CACNA1E. And the electroencephalogram showed generalized sharp waves. Currently, Arthur takes preventive medication for seizures and has an intense routine of therapies that seek to improve his motor, communication and swallowing functions. Every achievement, no matter how small it may seem, is celebrated. And each one brings hope. Arthur is a smiling boy who loves music, being in the company of other children and his family. He also enjoys watching children's programs, books and tours. We are eagerly awaiting an effective medication for all manifestations of the pathogenesis and for all people affected by it.