Kaitlyn's Korner: All Done!

Wednesday, March 23, 2011

All Done!

When Kaitlyn was 8 months old, she said her first word- "Mama". A few months later, she stopped saying "Mama" and started saying "Dada". We knew that with Niemann-Pick Disease, she would eventually lose her ability to speak so although I was disappointed that she stopped saying Mama, we were happy that she was at least saying something! She eventually stopped saying "Dada". Around a year old, she started saying "All Done". After every meal or bottle I would always use sign language and also say "All Done". She got really good at saying "All Done". It's been months since we have heard her say anything resembling a word. Niemann-Pick has taken a toll on Kaitlyn in the past number of months, effecting her physically and mentally but today we got a treat!

This morning I was giving Kaitlyn a bath. Chip usually gives her a bath everyday but since he is out of town for work, it was my job! Apparently I was taking WAY too long washing her hair cause she yelled "All Done"! My Mom was in the other room with Cole and heard her too. Just those two small words from her mouth were AMAZING. It completely made my day and she never ceases to amaze me.

3 comments:

Chris and CarlyMarch 23, 2011 at 3:38 PM
oh thank you for sharing that! How precious to enjoy the small blessings!
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ChelseaJuly 24, 2012 at 4:07 PM
that brought tears to my eyes, what a precious baby and a little sassy-i like it:)
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Eileen LinzerOctober 20, 2012 at 5:25 AM
Tears just sprang to my eyes - what an amazing treat that must have been for you! I hope you're able to come back and read entries like this one when times get hard.
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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.