The child in the video above, Judson, suffers from Krabbe disease — a progressive degenerative disorder of the nervous system. If you’re unfamiliar with the name, it’s also known as galactocerebrosidase deficiency, GALC deficiency, GLD, and globoid cell leukodystrophy.
So, what exactly is it? Krabbe’s is caused by a mutation in the galactosylceramidase (GALC) gene — leading to the accumulation of galactocerebroside and the subsequent destruction of myelin — which acts as a fatty material that surrounds, and insulates our nerves.
Most patients (85-90%), with Krabbe disease have the infantile form. During the first few months of life, the affected child will seem normal but with extreme irritability, spasticity, and will show signs of developmental delay before even reaching the age of 6 months. Thus, neurological deterioration leads to death, on the average at 13 months of age.
Although, 10 to 15% of patients with Krabbe disease have a later onset of symptoms with slower progression of the disease, as seen with Judson. The onset may be any time after 6 months up into the 5th decade of life! The affected individuals are absolutely normal until the symptoms of weakness and loss of vision as well as intellectual capacities become apparent — making the clinical course of the disease variable.
How does one get it? Well, krabbe disease is inherited in an autosomal recessive manner, which means two copies of an abnormal gene must be present in order for the disease to develop.
Can we test for it? Yes! Krabbe disease is diagnosed by finding with 5% or less of normal GALC activity, and it can be tested for prenatally. So, what can I do? For more information about Krabbe’s check out the United Leukodystrophy Foundation.blog comments powered by Disqus
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