The Joy of Jacob: Save the Date: Family & Friends Fundraiser

Sunday, September 9, 2012

Save the Date: Family & Friends Fundraiser

Please SAVE THE DATE...We will be holding a fundraiser for Jacob on the afternoon of Saturday, September 29th, with a percentage of donations going to the National Niemann-Pick Disease Foundation. All of our family and close friends will be invited to share in a special day filled with food, music, kids activities, raffle prizes and fun! We will be following up with an evite later this week, which will have all the event details. Looking forward to a special day in honor of the little man we love so much!!

2 comments:

Cathy JohnsonSeptember 11, 2012 at 5:41 AM
Looking forward to hearing the details, Sarah and wishing for a very successful event!
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Jill FlintonSeptember 11, 2012 at 7:46 AM
Hoping for a wonderful turnout!
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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

Sunday, September 9, 2012

Save the Date: Family & Friends Fundraiser

2 comments:

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