Kaitlyn's Korner: Sleeping Beauty

Tuesday, August 23, 2011

Sleeping Beauty

Kaitlyn slept off and on quite a bit today. She did have some oxygen dips but none where she stopped breathing. In our world, that's considered a great day! Kaitlyn has definitely taught us what really matters in life and the definition of a good day. She is both a teacher and a fighter, that's for sure!

Snuggle Bug

1 comment:

AnonymousAugust 23, 2011 at 11:22 PM
You look snug as a bug in a rug kaitlyn! Glad you are doing so much better. Xxoo steven shannon and wylder
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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.