10:50pm February 28, 2013

Okay WTF.

So now with all this new diagnosis stuff and my mom’s various diagnoses, I’m being told by someone who understands medicine better than I do, that its likely I have one of those weird conditions that mostly runs in one family only. No wonder they were so eager to do genetics studies when they found out my mom had a child with the same symptoms. (They haven’t yet but they’ve talked about it. I don’t mind if they do, because it would be something too rare to generally screen pregnancies for, and it might help actual treatments.)

This is… kind of a lot to take in though. I’ve known things in my body were going seriously wrong since I was 19 or so, but it wasn’t until my mom got sick and I started getting too severe for survival without proper diagnosis, that I started getting any information on what it might be. (Seems to be some weird cluster of congenital myasthenia and sensory and autonomic neuropathies. At least that’s what Mayo suspects of my mother, and apparently when these things run in families it’s only like one family known to have each particular variety. Or something. And my symptoms are similar to my mothers except she’s got more severe ones in some areas, and I have more severe ones in others. And the age when symptoms went really out of control is different for both of us, plus my grandmother had some similar stuff, and so on and so forth.)

I just feel… Really weird to be getting even the tiniest sliver of actual answers and it feels weird. Both good and bad and just very weird. I’ve been coasting all this time on really vague diagnoses like chronic nausea instead of gastroparesis. And suddenly there’s something really concrete in front of me and my mom and it feels weird and I can’t describe it other than weird and uncomfortable and relieving and scary and I don’t know what.