Kaitlyn's Korner: Our Story

Thursday, October 13, 2011

Our Story

Since October is Niemann-Pick Awareness Month, I made a video about our sweet girl and how we found out that she has the disease.

If you have trouble viewing the video, go to: http://youtu.be/AqpyN489mEE

2 comments:

UnknownOctober 13, 2011 at 4:39 AM
Beautiful, heartbreaking, inspirational....we are praying for you all. Rest assured sweet Kaitlyn has brought enormous awareness to all if us following her journey.
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AnonymousOctober 13, 2011 at 1:44 PM
What a beautiful way to share your story.
E. Shelton
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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.