The Joy of Jacob: Donation Match!!

Monday, November 5, 2012

Donation Match!!

Just had to share some good news...we got a great big surprise last week when we received a check for the the National Niemann-Pick Disease Foundation (NNPDF) in the amount of $1,255 -- compliments of Premier Designs, Inc. As you may recall, we held a jewelry fundraiser over the summer and came to find out that it was the company's highest grossing home party in the month of July! Our amazing friend (and jewelry consultant) Sue Brown went above and beyond as we worked together to write a letter to Premier Designs about Niemann-Pick Disease and to tell Jacob's story. Long story short...they matched the 25% fundraiser amount that Sue originally donated to split between Jacob and the NNPDF, so that we could make an even more significant contribution to the NNPDF! The check went out in the mail today!! Yay!!!

I should also mention another special tie to the NNPDF. As part of our jewelry fundraiser, Jake's grandma Sheila picked us out some beautiful matching "Love Cuff" bracelets, which feature the words "Love is patient, Love is Kind. It always protects, always trusts, always hopes, always perseveres. Love never fails." I couldn't believe it when she gifted the bracelet to me because those same words were part of Josh and my wedding vows, but more importantly, the term "PERSEVERE" is the motto for the NNPDF and serves as a daily affirmation for our family. So incredibly perfect! We wear our bracelets often as a reminder of our love for Jacob.

Another BIG THANK YOU to Sue for all of your wonderful efforts to support a cause very near to our hearts and for helping to share Jake's story, as well as spread awareness about Niemann-Pick Disease.

Jacob sitting with Sue and eyeing that big donation check being sent to the NNPDF!

2 comments:

Cathy JohnsonNovember 6, 2012 at 5:47 AM
Oh, WOW!!!! What a wonderful surprise for all of you. Three huge cheers for Premier Designs, Inc.! The bracelets sound beautiful - and such special meaning for you and Josh! Love it! Think of you guys every day, Sarah! Hugs and good thoughts to all of you.
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AnonymousNovember 6, 2012 at 5:52 AM
Awesome news!!!

Nanci Glassman
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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

Monday, November 5, 2012

Donation Match!!

2 comments:

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