Charlie is an 11-year-old boy who seemed like every other little baby, like every other toddler, like every other 2-year-old boy. And then the seizures started. Nine years later, Charlie has profound intellectual and developmental disabilities. He has tried almost every medication and treatment option on the market (and a drug trial as well), and he still seizes every day. Over the course of his life, he has experienced over 26,000 seizures and that number will be higher by the time you read this. When his brain isn’t seizing, he loves jumping on trampolines (with lots of protection of course), playing outside with his dog, and making things with his pretend tools and crafts. The seizures often come when he is happiest and most excited, so they in essence steal his joy.
Part of the difficulty in treating Charlie has been the long journey to a diagnosis. Multiple genetic tests, whole genome sequencing, and the brilliant minds of several rare disease networks turned up nothing across seven years of searching. One of those rare disease researchers happened to notice a research article linking a MAST mutation with epilepsy, and upon reviewing his genome the researchers finally confirmed that Charlie also has a related MAST mutation (MAST2 in his case).
This is the start of a new phase for Charlie and his epilepsy. Now that a genetic cause has been identified, he and others like him need researchers around the world to develop a deep understanding of all the MAST mutations. It will be a long journey, but funding research now will get those first steps underway.