Monday, July 27, 2009


Jacob has been home exactly a month today! I think we can say that he has recovered, but we're looking at a new baseline. Jacob's head control and overall muscle tone are lower. Movements are bad at times. Suctioning is part of Jacob's daily life. Feeds take longer than before. It doesn't bother me as much this time. I seem to be able to cherish each step in the right direction better. I'm focusing on the positive rather than the negative. I am thinking it's because the stakes were so much higher this time. We sort of got a taste of the end, but were so lucky to be able to get home again.
We have changed. We're more careful about where we take Jacob. We avoid public places and situations where we know there are lots of germs. When we take Jacob out, we always know that we can get home fairly fast, if Jacob needs to rest. We avoid long car rides.
At the same time, we want to balance protecting Jacob with him "living" his life. We could decide to simply keep Jacob at home, but he would miss out on a lot of things he truly enjoys in life. We know Jacob won't have a long life, so we do want to make sure it's a darn good one.
I'm otherwise on the phone with Jacob's neurologist every day right now. We have removed one drug that will decrease Jacob's secretions. We have not yet the right dose of the replacement drug, and it has led to insomnia for Jacob. It's definitely hard on the whole family to not sleep.
We also met with Jacob's metabolic doctor last week. The last round of tests showed increased mitochondria. It means either that the ribosomes aren't interpreting the correct message during production of mitochondria or that the body is producing more mitochondria because some are defective. This could potentially mean that Jacob has a mitochondrial depletion disorder. They are typically found in the liver. So, the liver biopsy is still a topic of discussion. We will most likely do it end of August/early September to give Jacob some more time to recover, but still not wait for respiratory season to start again.
The metabolic doctor is also taking Jacob's case to research groups in Boston, Paris, Nijmegen, Gent, and Melbourne to see which mitochondrial research group would like to take on Jacob's case, since he is sure the answer is in the ribosomes. Only time can tell...
We also discussed that we should use botox to numb the salivary glands. In that way, he still has 2 glands producing saliva, but less production than we normally have. If the botox works, we would simply remove the salivary glands, which would be minor surgery. This would be a good preventive step for avoiding the trache as well.
This coming Thursday night, we will be back in the hospital. Jacob has a scheduled sleep study that will hopefully help us further to determine Jacob's breathing at night. We have done many over the years, so this is sort of routine for us.
The grand parents are arriving tomorrow. Sarah can't wait! I also just heard from my cousin that she will come end of August, so that will be great as well!
Good night (sending positive thoughts Jacob will hear me...)!
- Maria.

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