The Joy of Jacob: Find the Joy in Your Life

Monday, January 28, 2013

Find the Joy in Your Life

I stumbled across the most perfect find while perusing Etsy one late night last week. Since Kelly was born, I have been doing plenty of web browsing, social media networking and basically anything else that my iPhone can do to entertain me...something to keep me awake during the late night feedings. Anyway, this [find] was just so perfect that I ordered it! My special late night find arrived nicely wrapped today and I had to share...

Isn't it perfect!?! Josh is going to hang this new wood sign above our mantel this week, so we can have a daily reminder in our home to always find the joy in our lives -- another positive way to remember our Jakey boy.

3 comments:

UnknownJanuary 28, 2013 at 9:53 PM
It is perfect and a wonderful reminder. Love you Jaker's!
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Cathy JohnsonJanuary 29, 2013 at 5:56 AM
And there is Jake, once again, with that little hug just when you need it most! You're right, Sarah - it's perfect! xoxoxo
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ChelseaJanuary 30, 2013 at 11:31 AM
oh my gosh! that is so precious, it is perfect for your sweet boy. xoxo
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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

Monday, January 28, 2013

Find the Joy in Your Life

3 comments:

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