Thursday, April 29, 2010
Today has been another busy day. Reagan woke bright and early at 4am. We never did get her to go back to sleep. Mike tried, I tried. No luck. She was very gurgly...I kept trying to re adjust her but she just kept gurgling. I couldn't go back to sleep. We got up and started medicine early...Reagan had a 9:30am appt with the geneticist that specializes in mitochondrial disorders. I had already been told that he rarely ever diagnosed kids with mitochondrial disease and I was actually expecting him to tell me that in his opinion Reagan did not fit the criteria. That was not exactly the case. He did say that until a genetic mutation is identified, nothing can be 100% certain (yes, tell me something I don't know). But he did agree that Reagan fit the bill and that her muscle biopsy did show mitochondrial dysfunction. He was very knowledgeable and spoke about the science of it all...although now that I think about it, I'm not sure if he even knew I had a medical background. He basically said that we're already doing everything we can do. He thinks we're surrounded by some good doctors that are going to do their best to help us. He is running a study in which they do gene sequencing of all of the genes that have been identified in mitochondrial dysfunction. He said if we're interested (yes) we can sign a consent for and he "might" include Reagan in the study. There are other patients he wants to run first, but we "may" end up in the mix. He also ordered some blood and urine tests of a couple disorders that he thinks Reagan may have never been tested for. So we'll see. From there we went to the lab for blood and urine. It was a quick blood draw, no problems whatsoever. I seriously didn't think we were going to get her to pee, but our nurse pushed on her tummy in just the right spot and we ended up with just enough to run the tests (the rest leaked out into her diaper). Did I mention what a wonderful mood Reagan has been in today? Just smiling and sweet as she can be. We had an hour to waste til feeding therapy so we took a short shopping detour. Then off to feeding therapy where she did GREAT. She started off a little gurgly so her therapist gave her some saline up the nose and got her to cough up a big lougy. After that she sounded better and ate some applesauce, drank some juice, and chewed on a skittle! I was really surprised that she chewed that hard skittle (it was wrapped in some fabric). Then we came home and she had physical therapy! It's been a busy day...especially for a girl going on less than 4hrs of sleep. And to top it all off...Grandma came to visit! It's been 3 weeks since we've seen Grandma. She had borderline pneumonia and it took her 3 weeks to get over it. Reagan was very happy to see her. She'll be a big help tomorrow with the EEG. Please continue to keep Reagan in your prayers as she gets this 23hr EEG tomorrow. We have to be there by 10:30am and they'll hook her up around 11am. I'm still seeing the head twitches (and other questionable things). Hopefully we'll get a good representation on the EEG...prayers that it rules out seizures.