Ataxia - Telengiectasia
Brian
As a toddler, Brian, 5, never came out of the “drunken sailor” phase. At three years old, Brian was diagnosed with Ataxia-telangiectasia, a genetic disorder that causes a multisystem disease. A-T combines symptoms of muscular dystrophy, cerebral palsy, immune deficiencies, and oftentimes cancers. Children with this condition experience problems with balance and coordination, often requiring a wheelchair by adolescence. A-T patients also face a greater risk of developing leukemia and lymphoma. With full, if not advanced, cognitive development, Brian is currently unaware of his condition. Brian is a happy, inquisitive kid who loves superheroes, especially Batman.
Brian’s cognition will always stay intact, he’ll always be smart, and he’ll always know what’s going on, but his body systems will deteriorate and/or fail as he gets older. So we’ve decided that every day we’re going to try to make it special, and every day we’re going to try to watch him laugh, and every day we’re going to just try to make the most of what we have because we don’t know what the timeline is. – Lauren, Brian’s mother
