Kaitlyn's Korner: Surgery Tomorrow

Tuesday, February 8, 2011

Surgery Tomorrow

Kaitlyn went to the doctor this morning and has gotten the okay for surgery tomorrow. Her ear infections are completely gone now and her congestion has cleared.

The surgery is scheduled to begin at 11am tomorrow. We were told that the surgery will take at least 4 hours if all things go smoothly. They are going to update us hourly on how things are going.

Please keep Kaitlyn in your thoughts and prayers.

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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.