My post the other day was pretty angsty. It's true that I am very frustrated that we have gotten no information about Maisie's wonky EEG. But right now there is so much to be happy about.
On the whole, Maisie is doing very well. The trip to the research center did unearth some answers for us. I'm realizing that while I talked about being at the research center, I did not really fill y'all in about what we learned and the steps we took. We started her on a new kind of seizure medication and since then she has been alert and smiling more as well as seeing a decreasing in her myoclonic seizures. We know that she is suffering from acquired hypotonia from brain damage with late-onset symptoms. We know that part of this brain damage is a piece of benign flesh lodged in her parietal lobe. We know that the neural connections between her occipital lobe and her eyes are shaky and the muscles in her eyes which control the dilation of her pupils are weak. We know that her body is using too many calories and amino acids to produce proteins in a fruitless effort to build her muscle tone which is why she is not gaining weight: the nutrition is not being distributed properly. Right now she weight 21 pounds, which means she's lost two pounds.
We have eliminated mito as a possible cause of Maisie's symptoms and are waiting for test results on two disease of the rough endoplasmic reticulum (an organelle -- basically, an organ for the cells): Maroteaux-Lamy Syndrome, and Familial Encephalopathy with neuroserpin inclusion bodies. FENIB is exceedingly rare, but that one seems more likely than the other.
All of this is good news. Some of it may not seem like good news, but it is good news. Any information is good information.
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