The Joy of Jacob: Baby Jake

Thursday, June 7, 2012

Baby Jake

We received the most wonderful gift this week and it is just too special not to share. Jake's Uncle Glenn (Josh's brother), Aunt Madea and the girls stopped by yesterday evening for a surprise visit. They also brought along Madea's brother Wayne and his wife Annette, who gave us our wonderful gift...

"Baby Jake"

It's a giclée reproduction of the original that Annette painted and it's stretched over canvas -- simply stunning! Annette was even kind enough to give us all a little french art lesson on how to actually pronounce giclée (zhee-klay). The portrait painting is called "Baby Jake".

Before yesterday, Annette had never even met Jake, but she managed to take a picture she had seen from our November 2011 family trip to Bodega Bay and truly captured the sparkle in his big brown eyes and the innocence in the little face that we love sooooo much!
Our family is so incredibly touched to have been given such a beautiful gift. It is something that we will treasure forever!!

3 comments:

Kathy KellyJune 7, 2012 at 9:26 PM
Annette so eloquently captured the sparkle in Jacob's big brown eyes & the sweet innocence in his little face! This painting touches my heart & takes my breath away ~ Ever so Thoughtful, Ever so Kind ~ Lovely ~ All my Love, Grammie Kathy
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Jason WheelerJune 8, 2012 at 1:28 PM
Really cool gift!!
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Doreen TorresJune 10, 2012 at 10:46 PM
What a precious gift!
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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, June 7, 2012

Baby Jake

3 comments:

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