What seems to be one of the big problems in relation to finding a diagnosis for Xian, and some sort of treatment, if that's possible, is her complex and strange collection of symptoms. The preceding posts describe her early symptoms (mainly neurological) and so I don't end up with lots of suggestions about therapies for sensory integration therapy or other primarily neuro aimed approaches--which were things I considered way back when--to the extent that she was on a wait list to see a private OT,--I figure I should attempt to document what's happened with her symptoms since then.
Note: A warning to anyone trying to be helpful---not that I don't appreciate all the good thoughts sent our way (thoughts, prayers, stuffed animal sacrifices and anything that might help from a distance all welcome!)---if I hear of one more alternative medicine that will 'cure' Xian I'll simply have to throw myself under a bus. Immediately. While I know people mean well, right now my efforts are focused on getting a diagnosis for Xian's specific situation. Once we know what she actually has going on in her body, then I'll consider various forms of treatment, both medical model and not. And indeed, she's had some 'comfort' treatments via Reiki and healing touch, and those are effective in calming her and making her feel a bit better.
Early symptoms: (Aug. - Nov.) -- mostly mentioned in previous posts (feel free to skip!)
short term memory loss and confusion, staring spells, unexplained laughing fits, tantrums and much more irritability than usual, severe insomnia, urinary issues (inability to 'go', and lack of frequency), severe auditory sensitivities, some sensitivities to light/touch, hyperactivity, food aversions (to protein---meats, dairy, beans and specific higher protein meals), personality seeming just a bit 'off'
December-January: (additional symptoms, the only one of the previous list that disappeared completely was the hyperactivity as it changed to lethargy/fatigue)
loss of bladder control when having staring spells or periods of blankness (not frequent, but they still happen occasionally), language changes (times when her speech is slurred or she couldn't find the right word, or she would repeat a strange sentence---like "I forgot to call you back!" and became upset because we didn't understand.), swallowing difficulties. Started showing periods of clumsiness, self-care skills declined (needed help with dressing and feeding, though it fluctuated and still does), periods of lethargy and being very disconnected/unresponsive, especially in the mornings, disintegration of her teeth first noticed (all her front incisors started developing ridges and chips, some appeared overnight when they'd been perfectly fine the day before), began having severe hallucinations/tantrums around two hours after higher protein meals. I started noticing that she was getting a bit 'hairier' (previously a very smooth skinned kid with a high hairline/big forehead---often admired by Chinese friends), showing some black 'peach fuzz' on her upper back, legs, and around the edges of her hairline.
Decline in fine motor skills, lost interest/ability in drawing and colouring---all throughout her illness, previously, though she was not always coherent or lucid she was able to create detailed and expressive drawings---her drawings would also show evidence of neurological fluctuations, so that they got shakier and unclear and then would be 'back to normal', sometimes over a 60 minute period, or less. (And this was observed in a session with the PT/OT team, as well as well documented in samples I collected.) Other difficulties with her hands appeared---sometimes seemed to have trouble unclenching them (and also got skin irritations from her fingernails digging in if I didn't cut them soon enough---almost daily she asks me to cut her nails) and other times her hands had a lack of tone, and yet other times she could do things like remove the foil wrapper from a chocolate.
March---the latest symptoms....
Although I really, really hoped that I was just imagining things---last week one of the doctors in Xian's clinic confirmed her signs of precocious puberty. As if the kid didn't have enough to deal with!! Everyone was remarking on her sudden height surge in late December/early January and now I am told that this can be one of the things that occurs first. In more 'normal' situations, little girls with precocious puberty (and barely five years old is really on the abnormally younger end of things---most of the studies I've been looking at address 6-8 year olds) can be treated with medication to halt or reverse it. The biggest issue related to early puberty seems to be that it will halt bone growth and have repercussions for adult height (probably not the worst thing on my 'what to worry about' list!). So, we've now got a blood endocrine panel to bring with us to the metabolic specialist. I really hope this is not going to mean that now she'll be bounced off to some other specialist and we'll wait for ages for the next appointment.
When Xian was in hospital in December, she had an MRI to check for a particular type of brain tumor that can cause similar neuro symptoms and is also known to cause precocious puberty---the MRI was clear, then, or so everyone said. Have to wonder if maybe they've been looking in the wrong part of her body. One other theory the group of psychiatrists suggested--in the same meeting where they 'decided' her condition was a form of PDD (ruled out later)--was that she could have a rare hormone secreting tumor somewhere in her body. While I probably should be a lot more freaked out right now, all I can think now is that she has some observable physical signs, and that something is bound to turn up in her endocrine blood work. I just hope it's something that will be enough to bonk someone on the head with an obvious direction for a diagnosis...and treatment, and we won't get something like, "oh, well, this sort of thing can happen in kids with undiagnosed neurological problems, deteriorating teeth and protein reactions---see you in six months!" At this stage, I've had multiple experiences with various new symptoms where I've figured, finally, this has to be 'the one' to turn things around--only to have whatever is going on minimized or glossed over or justified as something else. (nd yes, at various points all these things: the neurological problems, the deteriorating teeth and the protein reactions have all been discounted---at least until the point where they have become more and more apparent.
The other very not nice new symptom is that now she is losing bowel control when she sleeps. The pediatrician we saw last week couldn't make sense of it, just said it was odd and of course related to everything else going on---though she was fairly sympathetic (but she did say good things about the metabolic specialist in terms of possibly someone being able to untangle things.) Xian's not doing it every night, but enough for me to see it as a new and scary pattern (three times in the past 10 days, and once a few weeks earlier). She has complete control during the daytime and hasn't anything similar since she was an 18 month old with the flu, so I really wonder what's going on in her body during sleep. (In hospital she did have a brief EEG when she was asleep, but they cancelled her 24 hour video EEG monitoring, so I have to wonder...).
She's had a tendency to have sweatier hands/feet (she goes through several pairs of socks per day because of it) since she got ill, and sweats quite profusely at night, even when not covered---noticeable since mid fall, but recently I've noticed that her feet/hands/back are now cold/clammy and sweaty (rather than warm and sweaty). In the middle of the night, under the duvet and snuggling next to me her back will be cold and very damp. She's had periods of sudden flushing/sweating after eating (especially during the reactions she'll have to proteins, but at other times, too, in a milder way). Seems like even her internal 'thermostat' is not functioning the way it used to. She used to be typically, a warm, dry kid who'd sweat buckets only when playing out in the hot weather or if she was very active---neither is happening now.
And that's pretty much where we are now---I'm sure I've missed a few things (ah, like her chocolate/sugar cravings---she asks all day and previously wasn't really a big fanatic about them, though she always liked the odd gummy bear). I really hope she doesn't have to 'collect' more dramatic symptoms in order for the medical profession to figure things out. I have dreams of waking up to see her mutating into animals, aliens, and worse. Hmmm, now there's a theory no one has suggested---that she was part of an alien abduction when she was living in her orphanage and the aliens implanted something to make her turn into 'one of their own' and they've activated the process. Nah, I like Rachel and Xian's "she was cast a bad spell by a wicked witch" hypothesis a lot better. Rachel said today in the car, with a big sigh, "I really, really want someone to break the spell and everything be back to normal." It's been very hard on her lately, with Xian not showing many glimpses of her former self, and I think Rachel's quite lonely when she's at home with us on our own. We had a friend and her almost three year old come over this morning and it was great to see Rachel up to all the sorts of activities and antics that she would normally have done with Xian. Xian, while unable to join in, also watched the little girls with a big sparkle in her eyes. Peripheral participation seems to be all she can manage most days, aside from occasional bursts of energy at night, when sometimes she can manage a bit of a jump on the bed and a romp with Rachel for a few minutes.