The geneticist just called me. He said the last batch of testing yielded significant results. He is pretty sure of KayTar's diagnosis. I think I almost died. DIED. I'm shaking. Seriously. You hope for an answer every single day, and then you get test after test after test that come back normal or abnormal without any conclusive answer and you stop expecting an answer. Then it happens and you freak the hell out. I was talking to him and making notes while periodically covering the phone and whispering "Holy shit! HOLY FECKING SHIT!" while jumping up and down.
He thinks she has dopa responsive dystonia. I was freaking out so I can't remember the exact findings, but they were evidently convincing. He said it explains her brain abnormalities, her delays, and her episodes. He said it is treatable and you see results in just a few days. Kids who can't walk, suddenly can in a matter of days. Kids who aren't talking, suddenly are talking in a matter of days. The treatment makes a huge difference. I AM FREAKING OUT! Holy crap. This might be it. The answer.
She has to go in for another lumbar puncture, because they have to make sure it wasn't a lab error, but this could be it. It might be it. This is the first time someone has said, with any medical certainty, that they might know what she has. He also wants to do a gene study. He said 80% of cases test positive for a mutation, but that means 20% do not. So, the CSF test is to confirm, the gene study is less important, but could be informative. It is still a maybe, but he feels so strongly that this might be it that we have a genetics appointment on Thursday. These appointments are booked 8 months in advance and we got one for two days from now, just like that. The geneticist himself called me, that doesn't happen. There are genetic counselors for that. He called so quickly that he beat the counselor to it and she had no idea he had already called!
I don't even know what else to say. This might be it and I cannot believe it. I didn't know if we'd ever get this close and here we are. It is so surreal. This could be it. We might be done searching. We might actually have an answer.
PS: After the appointment, I'll give you the run down of what exactly it all means, but I couldn't wait that long to get this posted. Make sure you check out the post below this one for some fun photos of Josh and I.
ETA: The comments on this post are the text equivalent to a room full of friends jumping up and down and squealing in excitement with me. It was exactly what I needed. Thank you guys so much. I'll let you know what happens tomorrow.