Mitochondrial disease or dysfunction is an energy production problem. Almost all cells in the body have mitochondria, which are tiny “power plants” that produce a body’s essential energy. Mitochondrial disease means the power plants in cells don’t function properly. When that happens, some functions in the body don’t work normally. It’s as if the body has a power failure: there is a gradation of effects, like a ‘brown out’ or a ‘black out’.
Leukodystrophies affect the central nervous system by disrupting the growth or maintenance of the myelin sheath, which insulates nerve cells. As of 2016, there were only 100 documented cases worldwide for H-ABC laukodystrophy. Drew had a "de novo" genetic mutation in the TUBB4A gene which caused this disease. Currently, there is no cure for this disease, and it is progressive in nature meaning symptoms will typically worsen over the lifespan.
Drew visited Children's Hospital of Philadelphia (CHOP). CHOP is home to the Leukodystrophy Center providing comprehensive clinical care, diagnostic testing and the most advanced treatments with inherited white matter diseases.
Jason and Christy are featured in this video from their visit to CHOP earlier this year.