Kaitlyn's Korner: Merry Christmas!

Sunday, December 25, 2011

Merry Christmas!

This is by far the best Christmas ever! We have both of our children here to spend it with (something we always hoped for but never expected) and we enjoyed every second of it! Merry Christmas from our family to yours!

4 comments:

AnonymousDecember 25, 2011 at 10:20 PM
Merry Christmas to you all!!!!
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UnknownDecember 26, 2011 at 5:35 AM
Merry Christmas and Happy New Year!!!
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ElizabethDecember 26, 2011 at 8:48 AM
Yay!! Merry christmas! So excited for the happy update. Hugs for Kaitlyn
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AnonymousDecember 27, 2011 at 9:53 AM
Merry Christmas and God Bless!!!
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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.