The Joy of Jacob: You Brighten The World!

Tuesday, October 9, 2012

You Brighten The World!

Jacob received a gift the other day that is just too special not to share. A good friend of mine works at a daycare and had given me a heads up that she'd been working on a special "project" for the little man. Well, over the weekend Jake got a special package delivered in the mail and when we opened it...boy, oh boy, were we impressed!

The package contained two brand new books, which Jacob loves! It also had a bunch of hand-made cards and pictures, which were so sweetly designed with drawings of all of Jake's favorite things: elephants, monkeys, books, cookie monster, trees, and even his Momma. Our most favorite part of the package was a beautiful banner with the words, "Jacob Lee - You Brighten the World". How sweet is that!?! Each of the kids signed the banner and posed with it, so they could send us a pic along with the package filled with love and support. We really enjoyed showing Jake each picture and his face lit up as he looked at all the awesome artwork!

A small sampling of some of the artwork

Thank you so much Robyn and the Dalala Crew for such a special and thoughtful gift!

All the little artists who sent their love and support for Jake

1 comment:

Cathy JohnsonOctober 10, 2012 at 6:33 AM
What a beautiful and thoughtful and FUN thing to do. Jakers, you are SO loved!
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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, October 9, 2012

You Brighten The World!

1 comment:

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