Friday, May 6, 2016

Sweet and so loosey goosey

Everybody slept well last night and my girl woke me up this morning around 7am. I found her laughy and at the very top of her bed. Wiggled completely out of her covers with a leaky diaper. She was super darling though so I was really happy about that. She's been super relaxed today. Very loosey goosey in her body and super duper sweet. Big huge eyes again today. She had speech this morning and they did some feeding as well as computer work. Then she had PT. They got her up into the stander, this time without the pain. They didn't push her too far, her knees were still a little bent, but she seemed OK with it (which is surprising because I'm fairly certain I saw her wince this morning when her nurse was moving her leg). After PT, we jumped in the car and headed to Dell to get her blood drawn. The Texas Children's geneticist that took over the EPI-743 study from Stanford suggested we get a new chromosomal microarray done since the last one she had done was when she was 6months old. Obviously her chromosomes haven't changed any since then, but the technology itself has, and they are now able to identify insertions and deletions of DNA that have been linked to mitochondrial disease that weren't identified back then (things that wouldn't necessarily show up on the whole genome sequencing that finds SNPs). So it's worth a shot. Anyway, our doctor sent those orders over weeks ago and of course they couldn't find them when we got there. So after a lot of scrambling, me searching my email for the orders and then getting the nurse to send over another "script" requesting them to draw them (it's tricky because they are drawing the labs in Austin but mailing the blood to Houston for testing thru Baylor Genetic Laboratory). Anyway, we finally got everything straightened out and went back for the blood draw. My girl was super laid back and a great patient, but she was cold and her blood was just NOT flowing today. They had to try two different veins and only got enough blood for the genetic testing and some medication levels her neuro wanted checked but they couldn't do the CBC or metabolic panel that her neuro wanted. That's OK, we'll have to go soon enough for another blood draw for the EPI study and they will check all of those things then. She was good the rest of the day, even tolerating school after being stuck twice! Tonight she was vocal/laughy (maybe with a touch of edge) but very still and calm. She and Daddy dozed off before 10pm. Hoping for a good Mother's Day weekend for my girl (Grandma comes in on Sunday)!

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