The Joy of Jacob: Jewelry Fundraiser

Thursday, July 12, 2012

Jewelry Fundraiser - July 19th!!

Jacob's grandma Sheila is hosting a jewelry party fundraiser to benefit Jacob and the National Niemann-Pick Disease Foundation.

Date: Thursday, July 19th
Time: 6:00 p.m.
Location: 15 Stugun Court, Pleasant Hill, CA
R.S.V.P. cotruvo2@att.net

We know that everyone is busy and many of you who follow this blog live out of the area, so if you're not able to attend, please let me know if you're interested in seeing the catalog. You can e-mail me your address and I can have a catalog sent to you ASAP. Cut off day for orders in Monday, July 23rd. I've already perused the catalog and there are LOTS of really nice and fashionable pieces. The best part is...you're new sparkly, shiny jewelry purchase will help benefit a great cause that is near and dear to our hearts!!

Special thanks to Sue Brown for generously offering to donate 25% of the proceeds to such a special cause and to Sheila for helping to put this fundraiser together!

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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

Thursday, July 12, 2012

Jewelry Fundraiser - July 19th!!

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