Kaitlyn's Korner: Rough Morning

Sunday, December 4, 2011

Rough Morning

This morning has been really difficult for Kaitlyn. She has been upset and in pain and has had at least 6 seizures already and it's only 10:35am. She also started having a few apneic episodes, where she stops breathing, during her sleep, which is abnormal for her. Her heart rate was up and oxygen was down a bit while she was so upset earlier too. We have given her morphine for the pain and diazepam for the seizures. She is finally resting. Praying that her day gets better!

3 comments:

AnonymousDecember 4, 2011 at 11:29 AM
Continuing to pray for Kaitlyn and your family.
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AnonymousDecember 4, 2011 at 11:41 AM
I said a special pray for Kaitlyn this morning. Love you all, Aunt Nancy
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ElizabethDecember 4, 2011 at 1:47 PM
Checking the blog everyday and always praying.
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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.