Kaitlyn's Korner: Another Rough Night

Saturday, November 12, 2011

Another Rough Night

Yesterday Kaitlyn had a good day with family and friends at home, but last night her heart rate got really high again. The only thing that seems to be keeping her heart rate lower is the diazepam. Please keep praying. We can feel the love and prayers from everyone.

1 comment:

AnonymousNovember 13, 2011 at 11:53 PM
My thoughts and prayers to both you and Chip. Your blog is such a wonderful record of Kaitlyn's day to day routine. You are both such special parents and I think of you often. It had been a while since I checked the blog. Just hate that she is seizing and requiring so much medication. Comfort is so important at times like these. Take care of each other and I will pop in again real soon.
Sincerest wishes,
Julie Williams RN
WIH
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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.