Kaitlyn's Korner: The best sight of the day

Thursday, February 10, 2011

The best sight of the day

3 comments:

AnonymousFebruary 10, 2011 at 9:47 PM
Truly a wonderful sight! Kaitlyn's smile is beautiful anywhere....love you!
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MissyFebruary 10, 2011 at 9:48 PM
That is the best sight of the day! There's that pretty smile we all love to see!! So glad she is doing so well!!
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tamsjFebruary 10, 2011 at 10:17 PM
Sweet baby girl. Too precious. Tammy
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About Niemann-Pick Disease

Niemann-Pick Disease is a lysosomal storage disease that affects metabolism and is caused by genetic mutations. In order for a child to have Niemann-Pick Disease, both parents must be carriers of a genetic mutation causing Niemann-Pick. There are three types of Niemann-Pick Disease, Types A, B and C.

Kaitlyn had Niemann-Pick Disease, Type A, the most severe of the three types. She lacked an enzyme called acid sphingomyelinase. Since she didn't have this enzyme, her body couldn't get rid of sphingomyelin. Sphingomyelin has nowhere to go so it accumulated in her cells, eventually causing cell death and the malfunction of major organ systems.

Those with Type A typically live to be only 2 to 4 years of age. There are approximately 1,200 cases of type A and B worldwide with the majority being Type B. There is currently no treatment or cure for the disease. When Kaitlyn was alive, she was 1 in 5 in the United States with Type A.