Well, we went to the neurologist yesterday (dr. K). It's always such a pain to drive into Atlanta, but fortunately, Eve was really good. Really good. We were his last appointment of the day, which meant he was running more than an hour late. But it also meant that he did not rush out of our appt. In fact, I would say he even lingered. I was able to ask a list of questions, but I can't say that I got many answers. This is because there just aren't any answers. I'm just going to list some of the things we talked about, but not in any particular order. Please forgive the rambling nature.
First, we are to continue on the CoQ10 and we will test her levels in 3 months (locally) and he wants to see her back in 6 months. He is holding off on prescribing the carnatine for now and sticking with the CoQ10. I am almost relieved because I have read that the carnatine has a side effect of making your kid smell like dead fish. We are to continue with vaccinations as normally scheduled, because the risk of the disease is worse than the risk on an issue with the vaccination. The fact that she is complex I and III deficient doesn't coincide with clinical presentation. In other words, it doesn't really tell us much. The CoQ10 is supposed to help with energy in the cells, which I suppose help the body function better. As for his predictions about her prognosis - this is impossible. He said that we will need to use her as our crystal ball. If she is making slow progress, she will be on the stable end of things. If we start to see regression, and other system involvement, the news could be bad.
In the meantime, the mitochondrial DNA sequencing wil happen and this will tell us more information. It will tell us if it is a mito mutation or not. If not, we can reasonably assume it is nuclear DNA and is an autosomal recessive defect (and thus can look into egg/sperm donation for future kids). If it is mito mutation, than we will know it came from me and we will look into egg donation. If it is a mito mutation, it is possible that I also have it. But, we have no way of knowing what percentage of my mitochondria are affected. Because I am obviously without any symptoms, it is possible that say, 10% of my mitochondria are affected, but 80% of Eve's are. The miscarriage I had might have had 100% affected. But, if they find a mito mutation, they might be able to have more information about what to expect, and how to treat. But I am not sure on that.
Diabetes is connected. I am not sure how, but he said it is. Diabetes runs in my maternal side of the family. I'll ask the ped to check Eve the next time I see him (if he hasn't already tested for this). That's all I can think of for now. I am a bit drained and overwhelmed. I have managed to find a great website that has a group of parents of kids with mito disorders and it has already been very helpful. I found out how to save $35 on her CoQ10 through the umdf.org site. Oh, and we got some hand braces for Eve (which don't help her wrists, unfortunately, but do help her thumbs), and the bath chair finally came!!! Here are some pictures:
Clearly, her appetite is not a problem!
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