Kaitlyn's Korner: October is Niemann-Pick Disease Awareness Month

Friday, October 26, 2012

October is Niemann-Pick Disease Awareness Month

October is Niemann-Pick Disease Awareness Month. Please consider donating to the National Niemann-Pick Disease Foundation in memory of Kaitlyn Bourgeault (Type A). Every little bit helps and it goes a long way. Here is a link to donate.

Click here to donate to the NNPDF

January 2011

There is also a 20/20 Challenge to raise funds. Here is a link for more information. 20/20 Challenge!

November 2010

2 comments:

AnonymousOctober 26, 2012 at 6:29 PM
I just love those pictures. I miss her and think of her all the time, she really open my eyes. Love you Kaitlyn! !!!

Penny
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AnonymousNovember 18, 2012 at 8:36 PM
Thought of Kaitlyn and your family today. Sending prayers your way as usual.
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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.