Kaitlyn's Korner: Almost back to "normal"

Sunday, April 17, 2011

Almost back to "normal"

Kaitlyn has been doing really well since we've been back from the hospital. We are using less and less each day of the medicine, breathing treatments and suctioning. We are so thankful that she seems to be fighting this virus off. It has been a tough 2 weeks back and forth from the hospital but we are so happy that we are home now. Please continue to keep Kaitlyn in your prayers. She is still recovering and anything could happen. Thanks so much for all of your support!

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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.