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Saturday, December 8, 2012

Krabbe (Crab-A)

A simplified explanation of what is happening to Kenan: Because of the mutation he inherited from Dann and I to chromosome #14 (one copy of the mutation was passed on from each of us making a pair), his body is not producing enough of an enzyme called GAL-C. In the process of metabolism, GAL-C is required for cells to eliminate waste. Because his cells are unable to eliminate waste, it is building up in his brain creating a toxin that is destroying his myelin. The myelin is the coating that surrounds the nerve. Without it, the signal between brain and muscle cannot get through. In other words, there is nothing wrong with his cognition, his muscles, his organs, or even the signal; it is the conductor that is failing him. It begins with peripheral nerves (voluntary functions like moving your arms/legs) then moves through the brain stem (involuntary functions like swallowing and breathing). The reason Krabbe is so sever in infants:
 a baby’s brain develops rapidly during the first year of life with myelination being integral to this process. Kenan produced enough enzyme to get him through the first five months of life when his body’s demands outgrew his ability to supply. 

If there were a cure for Krabbe today, it would need to be threefold to benefit Kenan: It would need to allow him to produce the enzyme, it would need to repair the damaged myelin and it would have to remove the toxic buildup left behind. 

All Leukodystrophies affect myelin production.

Drawing of a “Brain” for Kenan by Tamsen (9/12).

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