So… Genetics did a bit fat nothing after Teddy’s transplant, whereas I thought they were sending in his DNA for various tests. Nephrology finally leaned on them a bit a few weeks ago and they sent in for one test, which was for a Glycogen Storage Disorder (type 1b). Just got the call today that he does not have that.
Which, frankly, Dr. Google had pretty much already told me he didn’t.
But, anyway, $1 billion dollars later, we’re pretty sure he doesn’t have GSD Type 1 b, c, or d.
However, that still leaves the Terrible Awful that nobody’s tested for yet, and they don’t seem to want to, and at the very least won’t consider doing so until we meet in person. (Today, she said something about only having had that one appointment. Dude, what seriously do you need us for? You’ve got his DNA, isn’t your job pretty much to test it for things? I can’t think of a single benefit that my sitting in their office will have, but whatever.)
I haven’t really mentioned this beyond some offhand references to the Terrible Awful. Lafora Disease was mentioned as a possible suspect way back when his transplant was cancelled. It is both terrible and awful. It’s about the worst thing I could imagine. (more accurately, it occupies that space along with many other things, all of which win first prize for being Most Awful.) It was presented to me as just one of the things on the laundry list of potential things that could tie together a range of his issues. I looked it up briefly, freaked out, then decided not to worry about it as nobody else seemed concerned. And they said they’d check for it. So during his transplant, they took a wedge biopsy of his liver and also did a skin biopsy. I never heard the results. Then I heard that “nothing had come back.” But that was not true.
When I got a copy of his records to take to the GI we saw here in town, I saved a copy for myself and read them over. And found the biopsy results. Which were “hepatocytes with cytoplasmic inclusions which have a glassy appearance” and, later, “abnormal glycogen present with hepatocyte inclusions,” and then “hepatocyte ground-glass inclusions, predominantly present in zone 1.” And the conclusion, which made my heart stop, “the appearance, location, and staining pattern are most consistent with hepatic inclusions described in lafora disease.” “Correlation with genetic testing is recommended.”
AND THEN NOBODY DID THE GENETIC TESTING.
And I don’t understand why they’re dragging their feet. If I had to guess, I’d say it’s because genetic testing isn’t 100% accurate with lafora, and the biggest indicator will be if he were to become symptomatic, which usually doesn’t happen until 10-12.
And maybe if you’re a Genetic doctor, that course of action makes sense to you. But if you have a human soul, I’m not sure it does. I mean, you can’t say, “hey, your kid’s liver looks like the liver of someone with this awful genetic disorder, but we’re comfortable just waiting to see if he develops symptoms – maybe he never will. Have a great next decade totally NOT worrying about this for every second.”
See… I would have preferred to NOT have loooked at this at all. I’m not sure why we were looking at/for it. We were supposed to be restricting our looking to things that might impact his transplant. This clearly wouldn’t, so why was it even up for discussion? But I’m not the one who brought it up. They are. And now that they’ve opened that jar, there’s no closing it back up. I can’t go back to NOT knowing that’s what the biopsy said. And at this point, I’ll be better able to deal with life in general if I know.
So we’re headed over to see them later this month and then hopefully I’ll have convinced them that they will come to physical pain if they don’t get the results of the Terrible Awful as fast as humanly possible since it’s been ALMOST A FULL YEAR.