Krabbe disease ia rare genetic disorder of the nervous system. It is a type of leukodystrophy. Krabbe disease is caused by a defect in the GALC gene. Persons with this gene defect do not make enough of a substance called galactocerebroside beta-galactosidase (galactosylceramidase).
The body needs this substance to make myelin, the material that surrounds and protects nerve fibers. Without it, myelin breaks down, brain cells die, and nerves in the brain and other body areas do not work properly.
There are two forms of Krabbe disease. Early-onset Krabbe disease appears in the first months of life. Most children with form of the disease die before they reach age 2. Late-onset Krabbe disease begins in late childhood or early adolescence.
There is no specific treatment for Krabbe disease. Some people have had a bone marrow transplant in the early stages of the disease, but this treatment has risks.
The video below is about Judson's story who has Krabbe disease.