Kaitlyn's Korner: A beautiful voice

Thursday, March 24, 2011

A beautiful voice

Since Kaitlyn decided to bring back "all done" the other day after we thought she lost the ability to say words, I thought it would be fitting to share the history of the words we caught on video so all of you could hear what she sounded like. Soo cute!

Ohhhhhhhhhh @ 2 Months Old

Mama @ 10 months old

Dada @ 15 months old (and some all done too)

All Done @ 15 months old

1 comment:

Eileen LinzerOctober 20, 2012 at 5:30 AM
I love these videos!! Especially the 10month "mama" one. That is my biggest wish when it comes to speech for Quinn.
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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.