Jamie D.

Born on February 3, 2018, Jamie had his first seizure when he was three months old, and has had multiple seizures every day since then. He has been diagnosed with epilepsy, chronic venous insufficiency, dystopia, and global developmental delay. Eventually, his doctors discovered that he had an extremely rare, inherited genetic mutation known as VBA5, which causes his myriad symptoms. “There is not much hope of a cure,” his mother says. “We’ve tried more than ten different medications and have gotten little seizure relief. This mutation is so rare—there are only thirty cases like Jamie’s in the world—but having an answer is a luxury many don’t have. In joining this rare genetics community, we have been given a village.”