Fact #2

Leukodystrophy Awareness Month:
Fact #2:
Krabbe disease is a result of a deficiency of an enzyme called galactosylceramidase (GALC). Without this enzyme, unmetabolized lipids build up in the brain and are toxic. As a result, the growth of the nerve's protective myelin sheath (the covering that insulates many nerves) deteriorate and cause severe degeneration of motor skills. In short, William's brain has endured severe damage that cannot be repaired, all a result of this missing enzyme.
And it is all part of William's genetic makeup (Krabbe disease is caused by mutations in the GALC gene located on chromosome 14).