Monday, April 28, 2008

Interesting weekend

Xian was on a pass for the weekend and I figured it couldn't hurt to do what I could to eliminate/reduce fructose just to see if there's really any chance of that being the issue. This was not an easy task, as fructose seems to be in everything prepared, and even anything with 'sugar' listed is suspect, because sucrose apparently contains fructose. And to make things more confusing, with the fructose disorder, glucose/dextrose are okay---I bought a bag of dextrose powder at the health food store to be able to sweeten up a few things. I did make some mistakes---but what was interesting is that I discovered them because of noticing Xian's behavior/responses changing. She did so well on Saturday that I decided to introduce a bit more protein on Sunday (plain yoghurt, more milk, more cheese) and she had no episodes. By Sunday afternoon there was a radical change---we visited a friend who was having a group of int'l adoptive single moms over to meet her new little guy, recently adopted from Ethiopia. While at first Xian withdrew from the other kids and was asking me to take her home, within a half hour or so she seemed to remember her old friends and was playing chase games in the play room. She was talking more (a lot of the time since Xian's become ill she's been mostly silent), and the thing that blew me away was that by the end of the afternoon (the kids all moved outside because it was a lovely day) she was playing on the jungle gym and hanging from the hanging rings. Now, as I've mentioned in earlier posts---the last time she played on gym equipment was probably late September. After that she lost ability and interest. Yesterday Xian was also remembering swing games and trying to get her friend Ellie to let her sit across on the swing so they could swing together. While her language still was not at her old level and she wasn't able to modulate her behavior as she would have (sort of 'rushing in' and barging her old friends, a bit like a bull in a China shop) it was a huge difference.

So, the big question for me is----is this just random coincidence and she'd be getting better anyway, or was it really the reduced fructose? And, if it's the fructose the puzzling thing would be why she seemed to tolerate it better before late summer. She did, after all, eat fruit regularly---though prior to the summer candy was a rare treat, though soft drinks were never tolerated. She's always had an extreme aversion to ketchup (full of the stuff) and odd reactions to medicines (kid's medicines are usually flavoured with fructose or sorbital---which converts to fructose in the liver). WAS she maybe showing signs of it that I never picked up on? Xian's always has unexplained periods of irritability and also times when she's been a bit 'spacey'/quiet. Could her early experiences have affected things in some way? When Xian was first adopted she had a bad case of giardia parasites and had lots of intestinal issues for months afterwards, and was never really a kid who had particularly 'normal' bowel habits (lots of alternating constipation/diarrhea, malabsorption etc.---though she never complained much or showed signs of pain, even when what was going on for her certainly would have caused me pain). Was her illness in China this past year connected? (Because access to dairy was limit, she drank a lot of juice and very sweetened packaged dairy and yoghurt drinks.) And, paradoxically, it seems like as she's become more ill she's begun craving sugars/sweets/carbs at a level I've never seen in her (i.e. constantly begging for chocolate, apple pie, cookies, etc.)

I'm going to call her metabolic doctor's office and leave a message (maybe they can do the fructose test first?) and will also share my observations when I drop her off at the hospital this morning. Oh, and the other big change is that on lowered fructose she's been sleeping better---fell asleep by 9:30 ish last night and is still sleeping. (Off to wake her up so we can head off....)

Wednesday, April 23, 2008

Long "catch up" post

Many developments since last week. And first, after doing a fair bit of ranting and raving about doctors (and more yet to come in this post) I want to say that I am just so impressed with Xian's metabolic doctor. She's smart, diligent, and seems to be going after Xian's puzzle in a way no one else has, and persistent about trying to get some things done. Also, she calls me back, and has really been validating of some of my impressions of what's been going on. I'd read a bit about her on-line---a story about a family trying to get treatment coverage for their children's rare metabolic disorder---a treatment funded elsewhere, but not in this province---so I had some hint she was a good patient advocate, but her work for Xian has simply blown me away in contrast to some other medical folks we've dealt with.

But, back we go a bit.... Last Friday after our little week of horrors, I left a message with her office, letting her know about Xian's two day hospital visit and what had happened on a 'regular food' diet for a day. In the meantime, the nurse from the child psychiatry ward called and asked if I would come to a meeting with her and the doctor/psychiatrist currently in charge, I agreed, since after lots of conversations I figured the only way to get the diagnoses that keep being returned to (and which I am pretty confident are wrong) really out of the picture would be for a group of medical folks to actually see what happens with Xian, and for someone else other than me to notice the pattern between meals/food ingestion and Xian's episodes. A friend offered to come along and that was very helpful, in terms of keeping me on track with my questions and things I wanted them to know, and also she was able to bring up a few points I wouldn't have thought to mention (such as, metabolics has only just started being involved because of the specialist's maternity leave). I quite liked the nurse in charge of the unit, and she was quite reassuring in terms of supervision (it would be one to one for Xian, with her being so much younger than any other patient), and in terms of me being able to have her there days for the first while, and with some eventual overnights (when my mom is here and I can stay with her). The psychiatrist seemed a bit less flexible and open to hear what I wanted to say, but I did eventually manage to make my points. (That while Xian was in the Stollery, no testing was done around her episodes, and nothing was carefully observed---and no one contacted the metabolic doctor who had told me in our earlier appointment that she wanted some testing/food trials done, that communication between the parties seems a problem, and that, although I have been noticing and talking loudly about the food connections, that Xian improved when on glucose IV and no food by mouth etc., etc., no medical person so far seems to be paying attention.) Eventually some of what I was saying did seem to sink in---and they agreed that it would be good to observe what was going on in Xian's episodes and organize some days with 'normal food' and some with the diet I've had her on. While this certainly seemed better than anything done so far, my big concern is that, having seen what happens when Xian eats regularly, and the consequences (which go on for days), doing that could result in more damage unless it was more closely supervised---like, by the metabolic specialist! So, I mentioned that---and mentioned that somehow the hospital folks and ped had neglected to contact her when Xian was in the other hospital, and said that I really hoped they'd be making contact with her. It was obvious that they'd heard nothing about metabolics being involved. Anyway, I did get a good feeling about the place, and also figured we'd give it a shot, as if it doesn't seem helpful I can always just take Xian home.

A few hours later, when I was having coffee at my friend's house and Xian was playing with her puppy, I got a call on my cell, from ..... you guessed it, the metabolic specialist, Dr. C. She'd received my message on Friday, and done some digging around at the Stollery and was ticked off that no one had bothered to call her when Xian was in---her office is in the building and she could have easily supervised some testing. She caught me up on what she'd been doing in the meantime---calling the urea cycle disorder expert in the US to see whether genetic testing was in order (no---he suggested doing food trials initially and then making a decision), and she also wanted to ask me a few questions in relation to a fructose intolerance disorder--because the condition can be more likely to present later, even in adulthood and some of the symptoms might fit for Xian. She wanted to get her metabolic dietitian to talk to me later that day so we could tease out whether it might be likely, and she also wants Xian to do a fructose trial when she's in the hospital.

Initially I thought it was a real long shot, but then after speaking with the dietitian, the meals resulting in huge episodes two hours later have all had fairly high fructose components, in addition to the proteins I'd noticed. All along I've wondered whether or not I'm missing something---while going lower protein has improved things for Xian, she's had occasional unexpected episodes where I just couldn't figure it out and I've wondered a bit whether going lower protein hasn't also been generally lowering something else, partly because she's getting far less processed or prepared food. Even on low protein, she's still not her old self. Though I seem to be able to prevent the huge episodes, she still has periods of being confused and where something else seems to be going on. When I looked up the condition (known as HFI, or hereditary fructose intolerance), I started to get of the more severe symptoms is getting severely low blood sugar once fructose containing meals hits the intestines---and the signs of hypoglycemia are: sweating, flushing, confusion, combativeness, irritability, and seizure. My mom swears that when Xian has an episode it looks very much like what she's seen a diabetic friend do when she's had a reaction. Today I went back to the food journals where I've been keeping a record of the meals Xian's been eating prior to having episodes, and interestingly, for ALL my records of her severe reactions the preceding meal/snack/food eaten contained high fructose foods as well---and I know that in my recording I've not really figured something like apple juice could have been important and didn't always write that down, so it may be even a stronger link. One thing I've noticed since Xian was a toddler was that any sort of pop would have a very bad result for her (irritability, getting hyper, insomnia)---I always figured it was the caffeine in coke, etc., or simply too much sugar. But, apparently fructose is a big soft drink component because it's sweeter than other sugars. Dr. C mentioned that it can cause severe abdominal pain, and I've continued to wonder if part of Xian's episodes have been related to a pain response, based on the things she has said, and that she is also really crying in between the screaming.

Today I was careful not to give her any fructose containing foods (not an easy thing---anything labelled with sugar as an ingredient can have it as the sugar), and though still keeping her low protein I jiggled things a little and gave her a bit more cow's milk (added a bit more to the rice milk), a little bit of cheese (half a cheese string), and a bite of salmon. She had no big reactions at all, and as the day went on she seemed to get more social and interactive and was very, very cuddly, including wanting to be cuddled before she fell asleep (with Xian's condition giving her sensory problems, she's not liked being touched/cuddled most of the time, though still wanting to be nearby), which she did at shortly after nine, the earliest she's done when not utterly exhausted since the middle of last fall. I'm trying very hard not to get too excited about the possibility we may have stumbled on something..... Though, on the other hand, doing the food trials under medical supervision do seem to have the possibility to reveal what Xian's reacting to, even if it's not either of protein or fructose---and, once we know for sure which foods are 'safe' feeding her will get a lot easier. Basically what I've been doing is just avoiding particular meals that she's reacted badly to, but hadn't thought to feed her one type of food at a time (though probably wouldn't be wise for me to do that anyway, as the dietitian says that when you find 'the food' the reaction can be pretty severe and even life threatening, if there's too much in your system).

We also had a home visit by the teacher and one of the psychologists in the preschool program at the rehab center that Xian will be attending two afternoons a week. (I went to the parent meeting yesterday.) It looks like an excellent place to find out where Xian's skills are at now, and they also mentioned to me that she would be eligible to attend the kindergarten in their centre next year, where she'd be more likely to have access to lots of therapy and services. The preschool program has the teacher, speech and language pathologist, nurse, developmental pediatricians, psychologist, and the usual collection of medical and professional residents getting some training. The teacher has offered also to contact the two doctors from the centre who originally saw Xian in hospital in December and let them know she'll be in the program---which means they'll both probably observe her and be more able to rule out/in anything that might be relevant to her case. So, finally, after so little going on, it looks like Xian will be observed a lot and have people who actually communicate with each other in groups involved in helping to come up with some diagnoses and treatment plans.

And hey, I won a stainless steel water bottle and pedometer from the Safeway 'instant play game'---so maybe it's a sign that things will change enough for me to actually get out for some long walks on my own!

So, send lots of good thought our way that perhaps we're getting closer to 'the answer' and some way to treat what Xian has been enduring for so long. To see her cuddly and relaxed and showing sleepiness tonight, instead of seeing her rigid, glassy eyed and staring off, really gave me some hope that we'll eventually see the return of the girl she used to be.

Friday, April 18, 2008

Rough Night, Rough Morning and Here We Are in the Hospital

A bit of back tracking -- will update the most recent developments as soon as I have a few quiet moments.

April 16, 2008
Very scary evening. To back up a little… Yesterday Xian managed to ingest a bit more protein---mostly due to me relaxing my guard a little and her increased appetite. She managed to snatch some extra cookies, some crispy chicken skin and who knows what else over the course of the day (I suspect she managed to snatch a chunk of chicken). Enough over the course of the day to give her sporadic screaming fits. One happened just as I was talking on the phone to the metabolic dietitian---she has recommended buying some special formula to add to her food that will provide more calories and make Xian feel more full, which will probably help with the 'sneaking food' situation. After our day, I was careful about Xian’s dinner and measured her portions so she wouldn’t get more than 5 grams of protein, but I have to wonder if she still had something in her system and I'm pretty sure she managed to scarf a couple of cookies while I was getting things organized for bedtime. I put Rachel to bed and was hoping Xian might also crash a bit earlier, like she had the day before. She seemed tired, but around quarter to nine she started having yelling outbursts, and I took her into the other bedroom. She had a few rounds of yelling/screaming/irritiability alternating with calming down and being a bit more coherent, but still seemed fairly responsive to attempts to calm and distract her, so we moved downstairs. Soon, it became obvious she was moving into a full tilt episode---one of the worst she’s experienced. It went on for a full hour, and the whole time she was screaming, “MOMMY, MOMMY, MAKE IT STOP! TURN IT OFF! I’M SORRY, I’M SORRY!” and pounding at her head, arching her back and seeming to be enduring something going through her little body. At one point she also was yelling for me to get a magic key---I sure wish we had one that could have turned it off. She kept trying to throw herself off the couch or the bed (I moved her downstairs when there was a bit of a lull, silly me thought it might be over). She was beet red, her heart racing and screaming nonstop for over an hour at a level of intensity even I haven't seen yet. If I could have, this time I would have called for an ambulance, it was that bad---but I couldn’t safely release my grip to get to the phone without her injuring herself.

In the morning she had another one---after only a few slices of fruit. She's very rarely had episodes in the mornings before much food is in her---can't figure out quite why it would happen, maybe still related to the previous day's event? It wasn't as severe as the evening one--the screaming was as intense, but she wasn't really trying to hit at herself or move around much so I called the pediatrician’s on-call doctor since the clinic was still closed and the doctor recommended taking her to Emergency. Tried to get the three of us ready---but we couldn’t actually leave until after her episode was over. She had a very little one while in the waiting room (we waited from 10 am until 4pm for her to be seen—a long day in the waiting room. Rachel was with us until my cousin collected her at around 3). Of course, though, she was fairly food deprived, so no big events once we were in the peds emerg. I’m praying this doesn’t turn out like taking your car in when it’s been making a funny sound and the garage --- with the episodes at home being so overwhelming, we really need to have some medical folks observe and run some tests while she’s having one. I’d rather not be in hospital—especially with how hard it is on Rachel (she’s overnight at my cousin’s for the first time---and we’re trying to see if my mom can come out, at least for a few days). Hopefully we won’t be here for long, as I don’t have much confidence that they’ll actually sort anything out further here, we ended up here more out of desperation with the back to back severe episodes. After the two big episodes, Xian’s in a deeper state of confusion---when the pediatric nurse asked her who I was, she said, “Uncle Bill” though she did get “Mommy” after a couple of repeat questions. (“Uncle Bill” is my own uncle—on the near side of eighty!) They’ve said to feed her anything, but I know that pushing lots of protein will have a pretty bad effect, so will do what I can to keep things on the low side and try to time her episodes. That’s worked effectively in the past when I was just figuring things out and wanted to have a couple of the social workers witness what was going on so she’d get some respite funding support. Wish us luck---we really need all the help we can get so as not to get a bunch of doctors all saying, “Well we can’t figure out what’s going on so it must be psychiatric.” And yes, early in our dealings with the hospital resident who has worked with Xian’s pediatrician we’ve already been getting that line of thought. I think it’s much like where they went with autism, way back in December. The resident asked if I’d consider play therapy---um, hmmm, can’t quite see how that would help with those “Linda Blair” episodes. These days, Xian’s not doing much talking and little playing, though she’s made some gradual improvements from her big decline in February. (But hey, if someone wants to come in and try it I certainly wouldn’t object, especially given the fact that Xian’s received nothing in the way of any sort of therapy or intervention yet.)


Monday, April 14, 2008

A week of flashing lights….

Turns out my feeling like I was coming down with something was the prelude to a week of migraines---they finally started easing off yesterday. Normally when I’m working if I’ve got a migraine I’ll send the kids off to day care (once I can drive safely) and spend as much of the day as possible in a dark room trying to sleep it off and downing ibuprofen/Tylenol/caffeine combos. With us still looking for respite, it was a painful week to say the least. Xian’s been having frequent bouts of screaming/crying---which might be connected to what’s going on for her hormonally, though a few have also been food related when she’s just over what she can tolerate for protein and she has a less dramatic episode. I’ll have to start recording her food intake again, as it seems that less food/protein is now provoking her episodes. She had a bad one yesterday—about twenty minutes of a milder one--- as an afternoon snack she’d had a tiny yoghurt sample in Safeway, a couple of small pieces of donut, and some fruit snacks (which have no protein). She’d recovered from that, but I made the mistake of giving her dinner soon after because she was hungry---not a big protein meal (some rice pasta with tomato sauce and a couple of slices of cucumber---maybe 4 grams of protein max. But it was enough to send her into a severe hallucinatory reaction. She yells “Make it stop! Make it stop!”, “Turn it off!” and “Too late! Too late!”, while she goes beet red, her heart pounds wildly, and she screams like nothing I’ve ever heard coming from a child. Whatever is going on seems to be pretty horrifying to her---while she fights and hits herself she yells for me to cuddle her, to hold on to her. I wish her doctors could all experience one of these events in person and have to try to deal with them---if I had other adults around I’d try to get her into Emergency while she was having one… there’s got to be something happening physiologically. The hardest part of going through these episodes with her is that it’s quite obvious she still believes that I can do something to stop whatever is going on.

Last week was a crappy week, generally---with what seem to be typical battles to get her clinic to act or even just call back. Xian’s endocrine levels came back normal, so no one bothered to call. According to an endocrine connection---a contact who is a senior pediatric endocrine doc, though unfortunately she’s across the country---‘normal’ levels are pretty typical for central precocious puberty—or, the form that comes from pituitary or hypothalamus issues. So, I call—and press the point that things are progressing, she’s five, and don’t we already have neuro issues pretty evident? (And if it was caused somehow by the medications they approved for her, shouldn’t they make certain of that?) A couple of days later one of the doctors calls back saying that they thought they figured they’d watch things for a couple of months before having her see endocrine. I pretty much lost it---I’m sure the migraine helped, but it felt like the straw that broke the camel’s back. Anyway, it sounds like the doctor (ours is on holiday) is now going to put in a referral---though I didn’t get any real timeline, of course. The doctor’s comment was, “Well, a lot has already been done.” My response was that no one’s solved the problem yet, and we are still not getting anything in the way of services, therapy or treatment. It seems that a lot of what I am hearing these days from Xian’s doctors sounds like they are covering themselves in the case that she takes a bad turn and I decide to get legal advice. Really, though, I’d simply appreciate more honesty and some acknowledgment of what we are all living with (and observing)---if they are out of options and her case is no longer a priority, then just tell me so I can take her elsewhere. If something about her symptoms is puzzling, then admit it instead of telling me that it couldn’t be happening in the way I say it does. With her food reactions, I’ve heard over and over again about how strange it is to suddenly have difficulty with proteins---been told that I can certainly feed her unlimited amounts---and we are yet to have a doctor make arrangements to actually observe what is going on. It seems that all of her doctors rely solely on her blood work and other tests---and if nothing shows up, then her case can’t really be that serious. (Unfortunately I know of several folks where negative test results occurred until they eventually had terminal or very serious illnesses diagnosed….).

So, feeling pretty frustrated. As I said to my mother when we spoke by phone the other day, maybe the bigger purpose of the last few weeks is to make me lose any sort of ambivalence I’ve had about going to the Mayo Clinic---as opposed to still hoping for something to become clearer to the doctors here. Our lives are in complete limbo---can’t even make kindergarten decisions for Xian, let alone figure out whether I will be able to return to work. With this hitting nine months since her symptoms first started, and five months since things got much, much worse, I am at that point of exhaustion where I know something’s going to give if our situation doesn’t change. While I’ve been very lucky so far not to come down with something, the week of the migraines showed me how tenuous things are for us.

On a brighter note---yesterday the weather was unbelievably warm, 25 celsius. Both kids rode their new bikes in the open garage (Xian doesn’t like being out on the sidewalk, but for some reason the garage is okay.) Since we’re a lot less able to get out, the bikes seemed like a good idea. Rachel is the kind of kid who I call the “off we go” girl, so I figured a ‘big girl bike’ might at least give her a chance to go back and forth down the sidewalk. I wasn’t sure what Xian’s response would be---in the past she was always keen to do anything involving physical activity and was always an extremely well coordinated ‘daredevil’ of a girl. Her illness has taken her abilities, confidence and even her interest in such things. She seemed to be pleased with the bike (I picked one decorated with Disney princesses, because of size, cost, and a left over birthday gift certificate for Toys R Us), and the first day Rachel and I got her to try to sit on it. Yesterday she managed some shaky pedaling but did seem to catch on after a bit and Rachel was thrilled to have some bike riding company. While it wasn’t exactly like the ‘old Xian’ would have done (she’d have been zooming off on the sidewalk and asking for us to go around the block as many times as she could), it did seem that some of her motor skills are returning a little. Her stamina is a lot less, though---after about ten minutes she wants to head indoors to lie on the couch. Still, at least it’s getting her out and a bit more active---given that she’s not getting any therapy of any sort (and not that anyone even has a plan for that to happen…).

Monday, April 7, 2008

The Bad Days….

We’ve had a rough weekend. Snowed in on Saturday for most of the day---spring snowstorm brought a pile of the wet slippery stuff, and didn’t get out much Sunday. Xian’s been having unpredictable fits of screaming and crying---not as severe as the usual reactions to too much protein (and I’ve been monitoring that fairly well), but enough to make excursions unwise unless they are strategically planned and short. I have a feeling that Xian’s new mood swings are connected to what’s going on hormonally in her body---bad enough for a 11 or 12 year old, but I’m sure it’s worse for a kid who cannot make sense of any of the myriad of things she’s experiencing---and she’s continuing to show further signs of hormonal imbalance. Her sleep troubles are worsening---in the fall, the late nights meant usually she’d fall asleep around 10:30, and now we are often looking at post-midnight with 7:30 or earlier wake ups. So, it’s exceedingly rare to have those couple of quiet hours in the evening to help recharge my batteries---it was important time even before Xian’s illness. I’m fighting off some virus, which I am sure is influencing my level of fatigue and gloom.

Rachel’s been having a hard time lately---talking a lot about wanting Xian’s ‘spell’ to break and to be able to do some of the things that we used to way back before it all started. What’s hard for both of us are seeing the little glimmers of the ‘old Xian’, enough to remind us of what life used to be like. It makes us hopeful, which in some ways is harder than just dealing with the ‘new Xian’ in the moment and not thinking too much about what she used to be, or our future. The ‘old’ is usually combined with the ‘new’---on Saturday night when I’d taken Rachel up to bed and left Xian watching Cinderella downstairs, she’d found a pen…..scribbled all over a pillow case, and when I took it off later to spray and wash it, I found she’d written two of the letters of her name on the pillow, underneath. Over the past few weeks, she’s barely managed to grip a pen….so it was a surprise, even if the old Xian would have chosen a more suitable writing surface. We’ve been collecting a few of those McDonald’s Disney princess toys---Xian’s shown little interest in any plaything for over a month. But while I was doing something upstairs she managed to take the little cardboard ‘jewels’ and trim off the insertion tags and put them back into the tiara and the ring, so they looked prettier. Attention to detail and similar kinds of ‘aesthetics’ was fairly central to her personality prior to this illness. She’s been wearing the tiara and ring---something she would have done in the past (Xian was the kind of kid who went to daycare in full ‘regalia’, including those hard to walk in princess shoes).

No appointments yet this week---having three days worth to get to last week, and some early ones was fatiguing, but it’s equally challenging just sitting around and waiting for test results. Each set of new tests brings along new conditions to worry about (the untreatable ones) as well as the hope that maybe they'll find something that will give some answers and a course of treatment. With Xian's testing roller coaster now going into the seventh month, it gets harder and harder. (And I thought adoption waiting games were difficult---those were both beach holidays in comparison with this...). With me feeling crappy and Xian having the mood swings we’re not really up for our usual distractions---heading out to the drive thru to pick up a coffee or one of those McDonald’s toys. I figure given our odds for the rare and unusual, maybe it’ll also work for ‘rolling up the rim’ at Tim Hortons. So far, I’ve managed a free coffee…. Maybe I should be considering lottery tickets.

Friday, April 4, 2008

Adventures with Metabolics….

(Note: some of this was posted on Xian's Carepage--but I've got a few more details here.)

Xian’s appointment with metabolics kept us at the hospital yesterday from 10 am to after 1 pm, so we were both pretty tired by the end of the day. After the usual weights and measurements, Xian saw a neurology resident doing her metabolics rotation---a woman that Xian and I had met previously in December when she was still in the hospital. (Yes, we seem to be running in a tight circle these days…). Xian had the ‘usual’ neuro tests done (reflexes, visual tracking etc.) and a bit of a physical. We also had another med student join us, then those two met with the doctor for 45 minutes before they returned with Dr. C. Hmmm, have to wonder if they were doing the high level medical equivalent of ‘google search’ to decide what to test next, though with Xian’s long and complex case I’m sure a good chunk of time went to discussing her details. Of course, this was the day I’d forgotten to bring Xian’s assortment of books and games, though she didn’t seem to mind the waits---it was when the doctors re-entered that she said she wanted to go home. She was fairly interactive---wouldn't respond to any of their questions, but wanted to play with one of the instruments with a little light (to look at her eyes) and was trying to make shadows. And of course, with getting to the appointment she hadn't eaten much---so she got more and more lucid as our time there passed. (They didn't want her to snack because they wanted to check her ammonias with little protein in her system, as a comparison to what had already been taken).

The metabolic specialist, Dr. C., said that Xian’s collection of symptoms and progression are indeed puzzling, and that she’s certainly been tested for a lot---including most of the treatable causes of neurological problems. She does want to be able to definitively rule out urea cycle disorders, because of Xian’s protein intolerance, and she went through a bit of a thought process---considering having Xian admitted to hospital to have one of her post meal episodes provoked and observed (I showed her a video clip of one, so she knew what we were dealing with), but she said that there is now a good method of genetic testing for UCDs that has 90% accuracy, and so she’s going to try to get that to happen first. Apparently there are some funding issues she has to problem-solve, as it’s a test done out of province, but she figured she had a way to approach it. They already have the kind of blood sample required (taken earlier from Xian) stored in the hospital, so she won’t even need to come in again. Dr. C. ordered some additional bloodwork: molecular genetic diagnostic testing (DNA testing), a urine test for another rare disease (can’t remember what the name was---a long one) one of those ‘freeze it and ship to some far away lab’ tests, a test for Huntington’s, and a couple of other conditions. Dr. C. warned me that while they are still testing for some rare and treatable conditions, some of the testing they are doing is now in the realm of ‘rare and untreatable’. This isn't really a surprise, since even way back in December one of the residents outlined the progression of the testing---from more common and treatable and more common and untreatable, to less common and treatable, to uncommon and untreatable.

I mentioned the problems with keeping Xian's proteins low enough to not create a reaction and also feeding her enough to make her feel full (for some reason she currently wants to eat and eat and doesn't feel satisfied), and we are going to be hearing from the metabolic dietician within the next couple of days. The doctor was trying to get her in to see us while we were in her office, but the dietitian was out of the office. Sounds like there may be some solutions in terms of low protein products. Dr. C. was impressed with what I’ve been doing for Xian in terms of diet---especially the part where I’ve figured out Xian’s limits for protein tolerance, though she did ask a lot of questions to be clear about what is going on. So, we should be hearing from the metabolic dietitian in the next few days. Dr. C. wasn’t sure what to make of Xian’s endocrine symptoms, but said she couldn’t immediately think of any connections between those and her other issues---with the MRI results being clear for the pituitary when it was done in December. (I still wonder about that, though....) But, she also figured that the blood work done for endocrine should give some indication of what’s going on. Although it would seem an odd coincidence, she said it could be an isolated thing.

I mentioned Xian’s file going to the Mayo Clinic and Dr. C. was quite encouraging about that. She said that they are extremely efficient—the tests we wait weeks for here, they have in a few days. Turns out she also has a friend who is a combined specialist in metabolics and neurology and she wondered if Xian’s file might be reviewed by her. Maybe if we are really lucky she’ll send a message to her friend and we’ll find out what’s happening at that end a bit sooner. (Well, one can hope.) While we don’t have any immediate ‘answers’, Dr. C. seems very competent and she’s going to be making contact with the neurologist Xian is supposed to be seeing again (not any time soon), the pediatrician, and trying to pull together all the ‘loose threads’. She also said that if Xian develops any new symptoms to call her office---and does seem to be keenly interested in doing what she can to help to solve Xian’s case. Now we are in the ‘wait for results’ game again--endocrine should come back fairly soon, and the ammonia should as well, but the metabolic ones will be weeks and I think the DNA test is months, as that's how long it took for Rachel (she had one done because of her central ray deficiency, to check for a syndrome that can be related).

Wednesday, April 2, 2008

Adventures in Psychiatry....

Xian’s psychiatry appointment today turned out to be fairly interesting, mostly because of a turn of fate. (Sorry, no great drama to report…). There was a familiar looking woman in the waiting room---this is becoming something fairly common for us, given the huge number of medical folks Xian’s been in contact with---between the medical residents and students, nurses, specialists and so on. I always remember a face, but usually I have a hard time recalling the context, especially these days. And of course, they always recognize Xian—she was always a ‘memorable’ kid, but with her unusual case, she seems to stick with people. After a bit of a conversation while I tried to place her, I eventually figured out (she gave me a few helpful clues) that she was the neuropsychologist’s assistant, J. She was the one who tested Xian a few weeks ago. I gave her a bit of an update on what had changed since then and mentioned our appointment with the metabolic specialist, Dr. C. It turns out that Dr. C has already contacted the neuropsychologist to see if she could get any of the testing results---so she’s obviously doing her homework before our appointment. (J. said they are still putting their report together, but hopefully they had something to share). J. also said that Dr. C is a very smart doctor and that we’d be in good hands. She also gave the impression that the other doctor who has been covering the metabolics end of things here while Dr. C. was on leave hasn’t been doing a great job in terms of Xian’s case---she’s also seen Xian’s medical file and I would imagine also knows about whatever conversations the neuropsychologist managed to have with him. (Also makes some sense of a number of comments---about the doctor that was covering---that always started, “Well, he’s good at ____, but…….”) J. also made an interesting comment about parents’ observations---in neuropsych they see kids with a variety of different conditions affecting the brain---she said that most often the parents have it right in terms of their suspicions about what’s going wrong and which symptoms are important, even though the doctors don’t always listen.

It was quite interesting to see a bit of a shift when the psychiatrist, Dr. W., heard about Xian’s new symptoms. I also shared how we’d managed to get the metabolics appointment. While she did suggest that the medication Xian had been on for sleep could be increased, she didn’t argue too hard about doing that, when I reminded her that Xian’s had reactions to everything she’s taken (even antihistamines). Still, I think she would have prescribed it in a higher dose if I’d pressed….kind of makes me wonder about the current state of psychiatry in terms of treating young children! She did ask what I thought about the theory that the senior psychiatrist had suggested (the one about delayed trauma after Xian’s China trip that our pediatrician shared early in March), but it didn’t seem like Dr. W. was even buying into it much, especially when I shared some of my observations of Xian during the trip. She shared a few more details from her conversation with the senior psychiatrist, and those were more valid (mostly questions about how we are managing the ‘new’ relationships given Xian’s changed state). I did mention what I see as the more important connection between Xian’s early history and her current illness---that Xian’s patterns of response to pain/fear/strangeness have been fairly consistent. So, rather than her past history causing her current condition, what it does is influence how she responds to it, especially as she loses more of her higher levels of communication. Anyway, the plans for a psychiatric observation are now on hold (on the psychiatrist’s end). The visit was a bit useful, as she’s going to write the letter that will get Xian some funding (what they call ‘program unit funding’) to get one-to-one support in kindergarten or other programs. Who knows what will be happening in September, but I figure it’s better to get as much lined up as possible.

Tuesday, April 1, 2008

Today's "Episode"...

Today has been an 'interesting' day to say the least. Yesterday another single mom friend and her teenage daughter (we belong to a great group of int'l adoptive single moms locally---they have been great supports both in matters practical and otherwise) came over to sit with Xian while I had a few hours to organize my tax receipts and do a bit of paperwork. I went to my favourite café bakery---Wild Earth---they have free wireless (so I could email my accountant) and also usually have great deals on day old baking. I bought one of the 'mystery bags'---assorted pastries, croissants, cheese buns and such---thinking that Xian and Rachel might like a turnover or something. Well, funny thing, that.... Since we were running late this morning (Rachel still attends daycare most weekdays, to keep some of her old routines and normalcy), I pulled out the bakery bag and gave each girl half of what I thought was some sort of berry turnover in addition to their bowl of fruit salad. Xian gobbled hers up and asked for more---wisely (and little did I know how wise that decision turned out to be) I told her to eat more fruit salad. Rachel ate more slowly. "Mom," she says, as she gets to her last bite, "It's not fruit, it's ham." It was hard to tell what was in the shred she handed me---maybe custard mixed with fruit? It was the right colour for ham, but given the taste buds of a three year old who hoovers in everything without a second thought I was sure she had to be wrong because it tasted sweet. "No, Mom. It's ham," she insisted, looking at me like I was a very, very stupid person. (Okay, I hadn't yet finished my first coffee and was, as usual these days, underslept...) Turns out she was right. Not only was it a ham stuffed savory croissant---the ham was mixed together with some kind of cream cheese! (I later inspected the 'stuffing' of the remaining one.) We're probably talking about 10-15 grams of total protein, or maybe more between the pastry, the cheese and the ham. Xian can normally cope with a bit of sweet pastry, though will sometimes have a bit of an emotional outburst if she's had more than about 5 grams of protein.

But the real proof was in the reaction Xian had about 2.5 hours later---one of her Linda Blair moments at its best---one of the 'full tilt' events where she lost bladder control, had wild hallucinations, screamed blue murder, bit and scratched herself and smacked herself in the face until she had a nosebleed---while I was holding on to her trying to keep her from flinging furniture or herself, she'd manage to get a smack/bite/scratch in occasionally when I relaxed my grasp thinking the intensity was finally easing. During this one, she did what has been typical for such things, screaming for me to cuddle her while also yelling and sobbing, "Go away, go away, I want my mom". Sometimes, it seems, the hallucinations make her unable to recognize me. And the usual, "Make it stop! Make it stop!" "I want to suck my finger! I won't suck my finger! I want to suck my finger!" (and when/if you let her she will bite it until she draws blood, if not stopped)

This time she had a slightly milder 'foreshadowing event'---about 15 minutes of 'just' screaming. At that point I went to the phone and called the metabolics coordinator, reminding him of their request for me to call and see if she could get in to a lab for a blood ammonia if she happened to have an event. Well, the guy was completely thrown by the screaming in the background (and like I said, she was just warming up)---uh, well, he might be able to get the requisition together/sent, but um, well, maybe it would be better to see what we could arrange once Xian has her appointment. I don't think it would have taken much to get him to send an ambulance our way.... Anyway, probably good we didn't head off in the car, given the severity of the rest of the episode once it built up. She's had one in the car, and even with a second adult present (my sister was also with us) it was a pretty scary situation. I've now witnessed and helped her through many, many such events, and I remain as calm as I can during the episode in order to help her gradually calm down---it's very obvious they are deeply frightening to her---what she doesn't need is a freaked out adult on top of what's flooding through her body. But dealing with even one event, even knowing what the 'course' is, really does take it out of a person---just from the adrenaline surge alone. (Yep, I'm thinking big glass of scotch, neat!) I really, really hope she has one of those rare early sleeps tonight.

Xian's psychiatrist called and left a message for me to call her when we were dropping off Rachel, obviously she forgot to check her appointment agenda as we have that appointment tomorrow, which her receptionist then called to remind me about. The message asked whether I'd gotten Xian back into, well, without funding to get her an assistant---not likely until she has a diagnosis or something pretty close to one---and without a daycare space, that's really not very likely! And really, since our future is one big uncertainty, getting back into daycare is pretty far down on the list of priorities given the high cost of child care in this city---far ahead of that is figuring out her kindergarten options and getting support lined up before she enters a classroom door. The doc mentioned 'plans' for Xian to be admitted as a psychiatric in-patient (not going to happen, sweetie---that's now in the 'over my cold, dead body' category). Oh, and she wondered about the new symptoms (hmmm, couldn't be worrying too much about them, given that it took you a full week to call back after my frantic message when I thought it might be related to Xian's earlier prescriptions). I chatted with a friend later in the afternoon who said, "You know, I'm kind of feeling a bit sorry for that psychiatrist, but I'd sure like to be able to watch!"