The Joy of Jacob: It's a bird! It's a plane! It's Superman!!

Thursday, November 1, 2012

It's a bird! It's a plane! It's Superman!!

Of course, we knew that we'd have to find something extra special and comfy for Jacob's 3rd Halloween, but quite honestly, I don't think we could have picked a better costume. Every boy wants to be a superhero, but our little man really is a SUPERHERO!!

It's a bird! It's a plane! It's SUPER JAKE!!!

We didn't go trick-or-treating, but we did have lots of fun visiting with family and a couple of Jake's little cousins in their cute costumes! Here are a few pics:

Hanging out with a skeleton (Auntie Libby) and the cutest little bumble bee (cousin Millie)

Yes, that's a SMILE!!! We haven't seen many smiles lately, so this was a special Halloween TREAT!

70's funk guy (Daddy), Superman, Frankenstein (cousin Cash) and Alfredo (as himself)

Momma and her little Superman

3 comments:

Cathy JohnsonNovember 2, 2012 at 5:39 AM
What a fun time! LOVE the costumes - they are all so cool. Aunt Libby's skeleton is gruesome! Jakers knows how to give treats - beautiful smile from a beautiful boy! So glad you had a fun night, Sarah.
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AnonymousNovember 2, 2012 at 10:52 AM
so cute!!! i love how comfortable and happy he looks in everyone's arms-sweet, sweet, baby boy. xoxo
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AnonymousNovember 13, 2012 at 4:10 PM
Super jake!!! So stinking cute. Xoxo Shannon laffoon
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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, November 1, 2012

It's a bird! It's a plane! It's Superman!!

3 comments:

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