(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).