What is Krabbes (Globoid Cell) Leukodystrophy?
Krabbe’s is an extremely rare and neurodegenerative disease that is autosomal recessively inherited, meaning that both the mother and father are carriers of the recessive gene. There is a 1 in 4 chance that when both parents are carriers that their child will have the disease, a 1 in 4 chance that the child will be a carrier but not have the disease and a 2 in 4 chance that the child will not be affected. “Krabbe’s disease is a defect in the genes that does not allow for proper development in the brain. Specifically, the nerve fibres’ myelin sheath, which carries electrical impulses to other nerves in the body, does not form properly, preventing the signals from properly reaching other nerves.” Children with Krabbe’s are lacking only a pinhead size of an important and necessary enzyme (GALC). The cerebrospinal fluid protein is toxic to myelin and without GALC the protein cannot be broken down, resulting in a loss of myelin. Unfortunately children with this devastating and rapidly progr
