The Joy of Jacob: A HUGE Thank you!!!

Tuesday, July 24, 2012

A HUGE Thank you!!!

Thank you sooooooooo much to everyone who helped support our fundraiser for Jacob and the National Niemann-Pick Foundation! The jewelry fundraiser was a HUGE success and we're still collecting the last of the catalog orders, which are due tomorrow. I took Jake with me to the fundraiser, as I knew there were many people who were anxious to meet our little man. It was a little overwhelming for Jake at first because he doesn't like being around a lot of people or noise. Fortunately, our amazing nieces helped entertain Jake so I could mingle a bit, which allowed me the wonderful opportunity to chat with some of the people who have been supporting our family with well-wishes, prayers, and more! We are so grateful to those who have opened their hearts to our family and especially to Jacob. It truly means the world to us to know that our little man is making such an impact on the lives of others.

Jake and his cousins Helena and Kayla. He loves the girls!!

Jakers and Cousin Hailey - LOVE, LOVE, LOVE this pic!

Again, a very special thank you to Jacob's wonderful Grandma Sheila for coordinating the fundraiser and to Sue Brown for so graciously offering to donate a percentage of all sales to such a wonderful cause!! Our family is so very appreciative!!!

1 comment:

UnknownJuly 24, 2012 at 10:05 PM
I'm so happy at how wonderfully proactive you guys ar. Wish I could have attended, but my heart is always with Jakey! I love you and LOVE that pic of him and cousin Hailey. Melts my heart

Auntie Wee
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Niemann-Pick Disease

Niemann-Pick Disease is a lysosomal storage disease, which causes fatty substances called lipids to collect in the cells of the liver, spleen and brain. The disease is genetically-inherited, but it is considered a recessive trait. 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 main types of Niemann-Pick Disease -- Types A, B and C. Types A and B are also referred to as acid sphingomyelinase deficiency (ASMD).

Genetic testing revealed that Jacob had Niemann-Pick Disease type A/B (also referred to as an intermediate form), which is a combination of the most severe and the least severe form of the disease. His body produced a very minimal (3%) amount of an enzyme called acid sphingomyelinase (ASM), which helps break down fat. Since Jacob’s body didn’t produce much of this enzyme, his body had great difficulty getting rid of ASM. The sphingomyelin had nowhere to go so it accumulated in his 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, whereas, patients with NPB generally have little or no neurologic involvement and may survive into adulthood, though there may be health complications. Type B individuals usually have enlarged livers and spleens, and respiratory problems are common. The enlargement of organs and the respiratory problems can cause cardiovascular stress. With Jacob, it was unknown what the exact progression of his disease would be. Shortly after Jacob's diagnosis, it became apparent that his disease was presenting in a more aggressive form and he did have neurologic impact. There are approximately 1,200 cases of type A and B worldwide with the majority being Type B. Unfortunately, there is currently no treatment or cure for the disease and care is mostly supportive.

The Joy of Jacob

Tuesday, July 24, 2012

A HUGE Thank you!!!

1 comment:

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