Actually, we've had them for a while -- I'm sorry this took so long to post. We've had a lot going on -- the biopsy results are just the beginning.
The muscle biopsy that we had done in January indicates that Maisie is in fact suffering from acquired hypotonia. What she is experiencing is apparently very similar to shaken baby syndrome, the name for brain damage that occurs when an infant is shaken violently and their delicate little brain is damaged by bouncing around their skull. Scientists know so little about the human brain that it's hard to be exactly sure what's happening in Maisie's brain, but the working theory is that her brain has been developing ever so slightly wrong, so as it grows and develops the part of her brain in charge of muscle development and strength is becoming more and more convoluted. She continues to have "weak days" where she cannot even sit up without support, and "strong days" where she can at the very least walk and play normally. We are still unsure why her ability is so inconsistent, but the theory we are beginning to test is that her neurons are firing incorrectly half the time. Three times a week she has a half-hour to and hour long Early Intervention physical and occupational therapy session where they work on her joint mobility and alignment as well as strength exercises. On weak days she spends up to an hour (sometimes even more if she's really feeling good) in her stander. She now has two standers, a Leckey Squiggles Stander (below left) which is very supportive and can be either adjusted to either prone or supine, and then of course her Leckey Totstander (below right), which we have adjusted to be a little less supportive for days when she can use her muscles at least a little bit to support herself.
(I know people are going to ask, so I'm going to say right now we have tested her for shaken baby syndrome, and none of her doctors believe that shaken baby syndrome is the root cause here. She has never been left alone with anyone except doctors, myself, my parents, and Jeff, so there has never been a real risk of shaken baby syndrome.)
We are about to recommence rare disease testing, particularly mitochondrial diseases. Mitochondrial disease (mito) affects the body's ability to convert food into energy and, by extension, the muscles' ability to grow and contract, the organs' ability to function. A lot of the various things Maisie struggles with point to mito, and both the RDS and the neurologist believe that it is highly likely that, in the trauma of her birth and first few years of life, a mitochondrial disease was overlooked. On Monday morning we will be taking Maisie to a research center out of state where they will take samples and do testing and hopefully send her home by the end of the week. We have two diseases we are specifically looking for: Leigh Disease or Syndrome and COX deficiency. She has already tested negative for MERRF, NARP, and MNGIE. If we rule out mito, which these last few tests should do, then we will move on to other disease groups.
We have made the decision to pull Maisie from public schooling and will probably begin homeschooling her when we get back from the research center. It is too stressful on her teachers, classmates, and mommy (me) to have her away from home.
And lastly, we may be looking at putting in another feeding tube (she had one as an infant and it was removed when she was about a year and a half old). There are days when Maisie is so weak she cannot eat more than a few spoonfuls of baby food or a few sips of a smoothie. She has lost a lot of weight in the past few months and is in the fourth percentile for her height and weight. She needs more nutrition than she can get when she has weak days. A feeding tube will allow me to administer her seizure medication and food without her expending more energy than she can intake.
I'm sorry this was such a long, serious post! I will try to keep y'all updated as much as possible from now on. Have a great weekend!
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