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 chills....one 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.