Kaitlyn's Korner: Thanks for the support

Friday, February 4, 2011

Thanks for the support

We are so thankful for all of the family and friends who have shown their support for Kaitlyn and us as a family. This has been the hardest thing we have ever had to deal with and so many of you have reached out to us. We have even had a few donations to Kaitlyn's Fund to help with our medical bills. Please know that we will be forever grateful for your kindness and generosity.

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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.