Krabbe Disease Essay

Krabbe Disease is a genetic disorder that destroys the protective coating of nerve cells in the brain and throughout the nervous system. This disease is a genetic disorder that can be found on chromosome 14. This disease causes you to have a shortage of an important enzyme that your body needs called Galactosylceramidase. In the Early 1900s, Knud Haraldsen Krabbe discovered this disease. Other names for this disease include  globoid cell leukodystrophy, globoid cell leukoencephalopathy, Galactosylceramide beta-galactosidase deficiency, Galactocerebrosidase deficiency, GALC deficiency. Symptoms vary whether you’re young or old. Earlier in life Fevers, Vomiting, Loss of head control, Severe Seizures, Muscle Spasms, Deafness and Blindness. Later in Life, Symptoms include progressive loss of vision, eventually leading to blindness, Difficulty walking, and Muscle weakness. If you’re diagnosed early with Krabbe disease, you could be eligible for a Cord Blood Transplant. If not diagnosed early, there is no cure to Krabbe Disease, but there are ways of living with the disorder. You can take medicine and drugs the stop the seizures, do occupational therapy to help children with common tasks like eating and getting dressed, and lastly, you can do physical therapy to help with muscle spasms. There are also some research and support groups for Krabbe Disease. One in particular is Hunter’ Hope. Hunter’s Hope is support group for Hunter Kelly. Hunter Kelly was born with Krabbe disease and his family published a research site to further our knowledge about this disease.