Tuesday, April 13, 2010

Doctors and Testing and Shots, oh, my!

We drive about 45 minutes to visit with our pediatrician. There are many pediatricians closer to home, even one clinic just about one minute away. But we make the drive. Today was one of the days we made that drive.

Our youngest is in her second year of getting synagis shots. I took her in today for her last shot of the season. I had a list of questions to ask the pediatrician about, but we didn't have an actual appointment (the nurse gives the shot) and the doctor was running behind. He called us later, but I wasn't home and my list of questions didn't get answered.

It is the eve of when the testing company told me our test was scheduled to be completed. The results will likely be faxed tomorrow to the specialist. I don't know if it will be faxed to the pediatrician or not.

I've been reading a lot about the test. I had been pretty hopeful when it was suggested that we have the test done. It sounded like this was the test that would finally give us some kind of answer. Maybe not a complete answer, but an answer. But the more reading I do, the more I realize that maybe we'll get nothing (except the really big bill). I just read on this blog about a family who had genetics testing that didn't really define things for them. And I have looking through "Ask the MitoDoc" on UMDF.org and reading things like,

the amount of mutant mitochondrial DNA is not always the same in every part of our body. So finding 0% mutant mitochondrial DNA in blood doesn't always mean that there is 0% present in muscle, brain, etc. That is one explanation for why some moms don't have the mutation, at least in blood. However, it is also possible that they not have it elsewhere in their body.
I also read something about the test we are having done really only having a 10% chance of showing mito disease.

The pediatrician just seems to be avoiding answering anything until we have a diagnosis. We're not sure if we're to go to the endocrinologist or the GI doctor to address the failure to thrive (FTT) in two of our children. We're not sure what all the variety of inconsistencies in tests really mean. We're not sure.... just the uncertainties again, and I'd better not work myself up too much listing it all out again.

But I am getting more unsure about our pediatrician. Is it really worth the drive? And what could I really expect from any doctor when there is the kind of history we have?

I just hope we can hear the results tomorrow. Even if it is nothing at all. I feel we've done all the testing from A through X. There would still be Y and Z to consider. Y is another muscle biopsy. If we've done everything from A through X, then why not just do Y and Z?

Both of our kids who died had muscle biopsies and skin biopsies. Our son's did show a certain characteristic of infant botulism, which is why that route was explored (and confirmed), but did not show anything else. There was no result found for our daughter (although the surgeon did tell us he thought the muscle looked a certain way to have justified the biopsy - still can't think of the term he used). So we have decided if something was definitely fatal for them, and we didn't get results, we wouldn't want to put other children through the test. But in all this reading, I'm learning that there are different ways to do a muscle biopsy. So if we don't get anything from the genetics test, I'll have to start wondering about the muscle biopsy again. We'd probably still hold off unless there were more extreme medical complications, but I don't know. Our kids who died didn't seem to be in extreme danger, but they were. So it's all that uncertainty again.

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