The Joy of Jacob: POP!! Goes the G-Tube...

Wednesday, June 13, 2012

POP!! Goes the G-Tube...

G-tube stoma site covered in gauze

Jake's G-tube popped out of place last night when I was putting him to sleep in his crib. It happened so fast that I'm not even exactly sure how it came out...maybe he pulled on it or perhaps the slack of the cord got caught up. Regardless, it popped out like it was nothing and Jake barely cried! I covered the stoma site (hole in his tummy) with gauze, grabbed his extra Mic-Key kit, and we were on our way to the Children's Hospital ER. Grandpa Dennis accompanied Jake and I to the ER because Josh was at work. Once at the ER, we were triaged right away and within less than two hours of the G-tube popping out, the doctors had a new one put in. The site is still so new that it had already started to close a bit, so they had a tough time getting the new G-tube in. It required a bit of stretching of the site, which Jake had a hard time with. I can only imagine how uncomfortable it must have been for Jake, but the doctors were able to get the G-tube placed without use of IV pain medicine or X-rays, which would have been much worse! Our little man is so tough!!We anticipate that this won't be the first time that this happens, but now that the site has healed enough it should be fairly easy for us to re-insert the G-tube on our own.

G-tube with inflated balloon, which is supposed to be INSIDE Jake's tummy

1 comment:

Cathy JohnsonJune 14, 2012 at 5:48 AM
Oh Sarah - that must have been pretty frightening! Glad to hear everything is ok. Jake is a tough guy for sure!
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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, June 13, 2012

POP!! Goes the G-Tube...

1 comment:

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