Hello, everybody!
It's been another crazy day. Maisie had a GP appointment, a meeting with the endocrinologist, a neurology followup, dialysis, and physical therapy. We decided to take Maisie in for dialysis once a week or so, mostly as a precaution while she struggling with muscular issues. In the beginning of December I rattled off a list of tests we were hoping to perform, with the hope of coming to a more finite conclusion about Maisie's hypotonia/atrophy. While we followed through with some of these things, I didn't want to go into detail about the tests. It didn't seem very, well, Christmassy. But the holidays are over and it's time I shared with you what we've come up with.
Maisie has had two MRIs in her life, and she HATES them. Both times were nightmares. Absolutely horrible. They scared her half to death. But they were informative, and at least one of them saved her life. I did not want to have to subject her to another MRI, but after her preliminary neurological exam (a battery of fairly simple, mostly physical tests) we decided that an MRI had to be the next step. The MRI came up with two irregularities, one of which has been there her entire life and we believe contributes to her gastrointestinal dysfunction. The other seemed to be new, but in looking back at her other two scans we realized it had been there, though much smaller, since her first MRI at eight months old and was also present in her MRI at two and a half years old. The neurologist is under the impression that this is the cause of the muscular problems. She needed to do some research and consult her colleagues, and promised to get back to us in under two weeks. With the neurologist we have also been discussing her seizures, and have been instructed to keep a seizure journal, with video recordings whenever possible, and to make note of any changes in her seizing. Meanwhile, we took Maisie to an endocrinologist, who she has been seeing regularly since. The endocrinologist has done many different tests, including a 24-hour urine collection test, ACTH stimulation test, and dexamethasone suppression. They've come up with low levels of the hormone cortisol. The more I research adrenal insufficiency, the more I think this is what we're dealing with. Symptoms include weakness, fatigue, kidney failure, weight loss, among others. These are all things Maisie's suffers from. To prove this theory, the endocrinologist wants to test for dehydration, sodium levels, and hypoglycemia. We have also been seeing an orthopedist. Remember when I said Maisie's problem isn't exactly orthopedic? Yeah, that was me displaying my utter lack of real knowledge in the area of medicine. Maisie's problem is exactly orthopedic. Tomorrow, Maisie is scheduled to do a muscle biopsy in the hope that we will be able to determine once and for all what kind of muscular dystrophy we're dealing with: hypotonia or atrophy.
In other news, she has been seeing the GP once every two weeks (at least) to get records on her general health. We need them to be as recent as possible and updated as much as possible, particularly in light of all the tests and samples and biopsy we've been subjecting the poor dear to. We want to know right away if she has a bad reaction to anything we are doing.
I just want to quickly touch upon her vision problems. I have mentioned that Maisie has bad sight many times, but I never really went into detail and I've been asked about it a lot. So here's the deal: the muscles in Maisie's eyes are weak, so they don't expand and contract the way it should. A normal person's pupils get larger in the dark and smaller in brightness to allow more or less light in to the retina. Maisie's eyes don't expand as far as they should, so she can't see in the dark the way you probably can. Her cornea is also too thick, so it can't flex to change her focus as quickly as it should. This happens to everyone as they get older, it's called presbyopia, but it seems the process is accelerated in Maisie.
This testing is difficult. It often leaves her sore and bruised. The muscle biopsy is scaring the hell out of her, and I anticipate having to sleep with her tonight. She is very susceptible to high stress levels and it causes pretty intense, vivid nightmares when she's worried about something. Lately she's been having nightmares accompanied by nocturnal (sleeping) seizures. Her whole life we've had a visual baby monitor when she sleeps, in case of seizures or other dangerous activity. She also still sleeps in a sort of crib (really a child-sized bed with padded wooden railing things made by a carpenter friend of ours) again so that if she seizes or has some other kind of distress, she does not fall out of bed and hurt herself.
Last thing: a couple of people have asked me about food allergies. So far, the only one Maisie's had is a bizarre sort of inability to digest milk or yogurt. She'd eat it, it would just kind of hang out for a bit, and then she'd puke it up, almost unchanged. For four months she had hormone therapy, meaning a doctor injected lactase into her twice a week, and after six weeks or so the problem went away. This was done as part of an experiment into pediatric hormone therapy. The doctor was only guessing that the injections would make a difference. It seems that they did. Or maybe not. She may have grown out of this intolerance. Hard to know.
I'm off to put Maisie-moo to bed (and probably me too). I'll update again after the muscle biopsy tomorrow! Wish us luck!
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