Krabbe+Disease

Krabbe Disease Does Krabbe Disease have any other names? - Yes, Krabbe disease has many different names. A couple names are as Globoid Cell Leukodystrophy, GLD, GCL, and Galactosylceramide Lipidosis.

How common is Krabbe Disease? -Krabbe disease affects about 1 in 100,000 individuals and is very rare.

What gene(s) are involved with Krabbe disease? -GALC

What chromosome is GALC on? -Chromosome 14 How do you inherit Krabbe Disease? -Krabbe disease that is inherited by a recessive pattern, which means that both of the chromosomes on the gene have Krabbe disease. Scandinavians are found most to have Krabbe disease. Symptoms of Krabbe disease: - Changing muscle tone(from floppy to rigid) - Hearing loss that leads to deafness. - Failure to thrive - Feeding difficulties - Irritability and sensitivity to loud sounds - Severe Seizures - Unexplained fevers - Vision loss that leads to blindness - Vomiting

What kinds of medicines and treatments are there to deal with Krabbe disease? -There isn’t any specific cure for Krabbe disease at the moment, but some people have had bone marrow transplants done in the earlier stages of the disease. Getting the treatment comes with very many risks.

What is the current research on Krabbe disease? - The National Institute of Neurological Disorders and Stroke (NINDS) which is part of National Institutes of Health did research on lipid storage diseases.

Are there any foundations that are raising money for the disease; and what is the main goal of the foundation? -Hunters Hope is one of many foundations that exist to help raise money for the disease. The main goal of Hunters Hope is for a resource to find information and research on Krabbe disease. They also bring awareness to the public. Interesting Facts about Krabbe Disease: -Jim Kelly of NFL team, Buffalo Bills, son was diagnosed with Krabbe disease. -Hunter’s Hope has special homes in Buffalo, NY for children with the disease. -Hunter’s homes have been open since 2005. -Duke Hospital in Durham, NC provides special care as well.

To see a personal story on Krabbe Disese that families went through click on a link below: Judson's Journey MULTIPLE Stories

4 websites I used to get this information: [|CNN] [|Google Health] [|Krabbe] [|eMedicine]

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