The Joy of Jacob: Smiley Boy!!

Wednesday, July 25, 2012

Smiley Boy!!

Just had to share the sweetest smile that I captured on camera tonight. Jake was pretty fussy after his dinner tonight, but was in a much better mood after his Grandma Sheila and Grandpa Paul stopped by for a visit. When I took him upstairs to give him a bath, I was singing "Happy Birthday" (since it is his Grandpa's birthday) and he let out a great big belly laugh and smiled bunches. I always try to have my camera nearby to snap a pic and capture wonderful moments like this! These are the moments that make our days brighter!!

"So keep your head high, keep your chin up,

and most importantly, keep smiling,

because life's a beautiful thing

and there's so much to smile about."

- Marilyn Monroe

1 comment:

Cathy JohnsonJuly 26, 2012 at 6:33 AM
Love this picture, Sarah. Jake's eyes just melt my heart! :)
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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

Wednesday, July 25, 2012

Smiley Boy!!

1 comment:

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