Yeah, “that’s what she said.”
I’m talking about a diagnosis! Woo woo! The biggest step forward in my depressing medical life in a long time happened today. I don’t know if it’s the sort of thing one says “congratulations” in response to, but normally I’m all tears at the doctor’s, and today it was all smiles for a change. Even “failing” the strength test, showing that my shoulders are more affected than I’d assumed, didn’t bring me down (caveat: “at the time”). But let me tell the story from the beginning.
Ages ago I had a muscle biopsy (you may remember the awesomely gory photos) and the initial results were inconclusive with the folks who analyzed it writing the ambiguous comment “unusual muscle structures” or something like that. Because the genetic tests we’ve been doing for different forms of muscular dystrophy were negative even though various tests and various scans were showing that type of symptoms, and because the level of pain is somewhat atypical, my newer and more experienced doctors had the tissue sent over so they could take a closer look using their electron microscope. Here’s what they saw (this isn’t me though, just a picture I found on the net):
If I understand the right, the thing in the middle filled with the grid of circles is a muscle fiber. The thing is, it’s not supposed to be filled with that grid — the picture down below shows normal muscle on the left and muscle like mine on the right. They’re called tubular aggregates (BTW, it’s amazing to me how artificial they look), and I finally have a firm diagnosis, which is tubular aggregate myopathy. The good news is that even though it’s excruciatingly painful and debilitating, and has neither cure nor effective treatment, it affects only skeletal muscle and is thus rarely directly fatal. The horrible news is that it has a genetic cause, and that cause can be recessive or dominant and inherited, or caused by a random mutation… the reason that’s horrible is that it means there is a solid chance I’ve passed this curse on, and I feel just awful about that possibility, and have told my doctors that my top priority is in determining whether that is the case. Anyway, I don’t have too much to say because I only found out about this today and I’ve still got a lot to learn (and the internet is filled with conflicting and mostly useless info on the subject), so I apologize if I’ve made any mistakes in my explanation.
I have kind of mixed feelings about the diagnosis. Part of me was hoping to be told, once again, “sorry, we have nothing useful for you”, because that left the door open a sliver for the possibility that I was lying to myself and was just addicted to painkillers and didn’t know that I was faking everything. As much as that would have been horribly embarassing, it would have been easy to treat. That door is closed now, leaving me with something that can not be treated. It’s of minimal satisfaction to be “vindicated” and have hard proof that I’ve been telling the truth to everyone. That said, I really have to thank everyone who has stuck with me up to this point, most of all Caitlin and Nefarious and Dave and Saira, but also other friends, both real life and even those who I know only through kind words here on zentastic.
And other than that, we just got Netflix on the PS3 (and on Caitlin’s iPad for bedtime viewing), and wow, it’s awesome so far. Their selection of documentaries is incredible and there’s so much stuff I’m looking forward to that I’m not too broken up if I end up bedridden for a while! Overall, the day has made me feel pretty good emotionally, although I still feel horrible physically. Tonight Nefarious and I are going to enjoy some movies and a pizza, and tomorrow we’re rounding up all the scrap wood that I have lying around and building a big doll house (with the bottom story being a barn). I’m keeping my fingers crossed that I have the strength to survive the next two days.
