Tuesday, March 1, 2016

Road trip to Texas Children's

Well after a very restless night last night, Reagan was awake and in a good mood this morning! Thank goodness. So we were all up and at em early. Grandpa came over and took on Ryan duty and Reagan's nurse came in early so we could get on the road by 8am. Mike was able to take the day off (thank goodness I didn't have to do this whole drive myself) so he drove. We were lucky to not get into any traffic leaving Austin and it took us about 3.5hrs to get there but we did make a pit stop for bathrooms and food on the way there. Reagan dozed off and on along the way but only for very short stretches of time, however she was awake but sleepy for most of the drive. We found a parking spot, changed her diaper, and then headed to the appt. It was in the Abercrombie building at Texas Children's, it's an old building that used to be St Lukes but now I guess it's where they conduct all of the research studies for TX Children's. We walked up just before noon but apparently our appt was actually at 12:30. Thankfully we didn't wait long and they took us back early. Her weight was a little lower than it had been 50.5lbs (instead of 52.5lbs), and while I guess that could be due to differences in scales, we should probably weigh her again at her GI doc's office just to check on that (we did have some major issues with her feeding pump a few weeks ago where we realized it was shorting her about 200mls of formula a day, so that could be the culprit). When they measured her it also appeared she had grown a few inches, and while I do think she's grown some, I'm pretty sure they measured on top of her ponytail adding at least one inch! So at first we spoke with Catherine the study director (which is funny because Catherine was also the name of the study director at Stanford when we started the study). They've been conducting phase 2 trials of EPI-743 at TX Children's for the last 3yrs and are just now taking over the Texas patients that started the study under the compassionate use protocol 5yrs ago. Now that we are under their jurisdiction, they plan on following a little more closely. They want labs every 3months and biannual visits to Houston. Not a huge fan of that, but I do like that they will be keeping a closer more watchful eye on my girl. While talking with Catherine, they came in to do a quick EKG and a blood draw. Everything went very smoothly. Shortly after they were done, Dr Scaglia popped his head in. He went over some things with Catherine and then came back and examined Reagan. He had clearly gone through her chart and read through a bunch of her test results. Being a geneticist, he obviously would still like to see a genetic diagnosis, but he openly admitted that there are still so many gaps in our knowledge of the human genome, it's still very possible that whatever disease causing mutation Reagan has it still hasn't been discovered. He did recommend a couple things of interest. First of all he thinks the whole exome sequencing she had done 4 years ago should be reanalyzed. They are constantly coming up with new filters and new ways to pinpoint new mutations, it's very possible they could find something now that they didn't see 4yrs ago (this is also something Baylor is willing to do free of charge with the data they already have, so no additional blood draw is necessary). The other thing he asked about was her chromosomal array. She hasn't had one done since 2007 when she was first diagnosed with seizures at 6 months old. He said that the chromosomal microarray has the ability to find insertions and deletions in the DNA that exome sequencing would not catch. So he did suggest ordering another chromosomal mircoarray. The only thing I don't like is that since this is a study protocol and he's not technically our doctor, he couldn't order any of these tests himself. We will have to get one of our doctors here to order them and honestly I worry about what our metabolic geneticist here will say when I tell him another dr found tests that should be run that he hasn't suggested! So we'll see. I'm going to first bring it up to her pediatrician next week when she and Ryan have their yearly well checks! So our appt only lasted from 12-1:30 and we headed out to grab lunch. We stopped in Rice village and had a nice lunch at Hungry's, then changed her diaper, and headed back to Austin. On our way back we took 290 (there was a big accident on I-10), so we did get stuck in some traffic on 610/290 leaving Houston but nothing too bad. It took us another 3.5hrs or so, we did stop again, and we were home by 6pm. It was a loooooong day and we were happy to be home. Reagan did have a big poo about 45min after we got home. Boy am I glad she held it until then! She's been great all day. Very calm and laid back. Very still. A perfect day for a road trip! Tonight she dozed off in my arms...sweet girl. Now lets hope that she can get some much needed rest tonight!






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