Actually, it was a room full of docs up "on the hill" (OHSU). 2 nurses, 1 genetic counselor, 2 neurologists, and 1 geneticist. And no new info, once again. They took a urine sample for some more testing, suggested we go to a genetic opthamologist (wow, how's that for a specialty) to try to associate any diseases with her cataracts, and will wait until we get back from UCLA at the end of next week to coordinate any other tests they might want to run (MRI/MRS, muscle biopsy).
The conventional wisdom these days seems to be a metabolic disorder, not a neurological condition, or a mitochondrial disease. But, if it is a metabolic disorder, it's very rare and is not presenting like a "normal" metabolic disorder, so our chances of getting an actual diagnosis are pretty small at this point. Very small. They said they see about one kid a year "like" Jordan, and that there's probably not much more we can do except wait for the enzyme shortfall to take over her functions.
But we'll keep on looking for answers, and to figure out how this all fits into the big picture of our family. Whatever this disease is that has overtaken our lives now will continue to haunt our family forward. Because some of the diseases don't appear until later in life, and some are recessively inherited, we really want to know what is going on, especially for Avery's sake.
At least they seemed to be a little bit more compassionate today. I was really dreading this appointment, because even though I know what the reality is, I'm never as prepared as I think I am to hear it repeated. The amount I cry & how crappy I feel for the rest of the day seems to be directly proportional to how the doctors treat us, so, all-in-all, it wasn't a terrible day, much to my surprise.
One appointment down, three to go (this week).
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