|HUGE screens going up two stories!|
Friday, April 7, 2017
Reagan slept well last night and woke up smiling this morning. What a relief! Maybe this will turn out to be a good trip? Mike took Ryan to speech this morning while I played nurse and also got all of our stuff together and ready to go! Mike dropped Ryan off at school for an hour or so while I continued packing and then we loaded up and left Austin around 11:30am. Both kids were pretty good on the way there. We got to Houston an hour or so early but wasted another half an hour in traffic trying to get to the medical center and then another 15min in the parking garage, so we ended up only being a few minutes early for our appt. They got us back right away, getting Reagan's weight and height and then putting us in a room. These med study appointments are in the Abercromie bldg at Texas Children's Hospital and the room you are put in is regular hospital room with a bed and a bathroom. Reagan enjoyed stretching out on the bed after being cooped up in the car for so long. The nurse for the study came in and explained some changes they're making to the EPI-743 (it will now be sent out in a bottle instead of individually dispensed syringes). Then the doctor came in and asked how she's been doing. We updated him on the recent issues with urine retention (increased tone) and the breakthrough seizures and the fact that we think it's all being triggered by hormones. We also discussed the NACC1 mutation that he believes is responsible for all of Reagan's symptoms. At this point, he is hesitant to say that Reagan even has mitochondrial disease, because she was never found to have a mutation in any of the genes identified in causing mitochondrial disease (typical geneticist response). But as the other geneticist said (who later came in and spoke with us), NACC1 is a regulator gene and could very well have implications in mitochondrial function, which would explain why the majority of Reagan's symptoms indicative of mitochondrial dysfunction. There are a group of scientists right now that are working to identify the role of NACC1 and they are even developing a mouse model that should give them more insight. So after speaking with the doctor they did an EKG, took lots of blood for labs, and I collected a urine sample (with the help of the warm water method...she's actually peeing on her own today but I was able to collect a sample for them this way)! Then we headed to the hotel. We stayed at the same hotel we stayed in for the marathon, the Marriott Marquis. It is located right beside Discovery Green (where the walkathon is tomorrow), so we just have to walk outside our hotel and we're already at the walk! They are having an anime convention next door at the convention center, so it is making for some interesting people watching in the hotel! We ventured down to the hotel's sports bar Biggio's for dinner. Thankfully it was noisy enough that people weren't too disturbed by Ryan's antics and not too noisy that Reagan was easily upset. We ate until we were completely stuffed and then retired to our room. Ryan was entertained just staring out the window at the pool and people in the park. Definitely not afraid of heights! I was hoping he and Mike would be able to take advantage of the Texas shaped lazy river at the hotel, but we are all just too tired to do anything else. We've got two queen beds so fingers crossed that these children behave themselves and we can get some sleep tonight. Ryan's a restless sleeper and Reagan has a tendency to not sleep at all, so I'm not too hopeful!