Wednesday, January 23, 2019
Reagan has had some really great days the last week or so and she was just starting to get a little on the tense side right before our trip. I was worried that she was going to wake up unhappy and I would have to cancel both of her appointments, but thankfully she surprised us all and was good. Definitely on the tense side, but calm. We left early as we had an 11am appt with her neurologist. We spoke with him about the results of the home 72hr EEG we did in early December. We did see one seizure that we marked and it did come back as a seizure. On a good note, no seizure activity was noted at any other times, so it's good that there's nothing going on that we are unaware of. We did make the decision to up her Banzel dose and spread it out over 3 doses to try to lessen the amount of time in between doses (usually we'll see a seizure an hour or two before her next dose). We also talked to him about a medicine another doctor wants her to try. About a week before this appointment, we met with a pediatric psychiatrist and discussed some mood stabilization medication options that might help with her bad days. It's certainly worth a shot. So before starting anything, we wanted to run it by her neurologist. He thinks it's a good idea so we'll wait a little while after increasing her Banzel and then we'll try out the new med (Seroquel). We're also going to start it at night, in hopes that maybe it will help Reagan get a little bit more regular sleep, which in and of itself could help her bad days. After the neuro appt we headed over to the research building to get blood and an EKG. The EKG was easy...the blood, not so much. After two sticks we finally decided they needed to call in the big guns...the VAC team (they bring an ultrasound with them to find the veins). So we headed over to our appt with metabolic geneticist that oversees the kiddos on the EPI-743 study. We spoke to him about Reagan's movement disorder and the fact that they are now thinking this is something linked to her NACC1 gene mutation. We signed a release to be included in a movement disorder study being conducted in Finland so it will be interesting to see what comes out of that. We also spoke about possibly having her evaluated by a movement disorder specialist there at Texas Children's. We'll see. Not sure if we are up to another specialist and more medications at this point. After our genetics appt, we headed back to the research building for the last attempt at bloodwork. This time the guy from the VAC team got blood with the first stick and had no problem filling the 10+ tubes needed! Woohoo! From now on we will not do blood without them. After that we trekked back to our car and headed home just in time for Houston rush hour traffic! It was a looooong day. We didn't get home til close to 8 and we were all exhausted. My girl is still very tense, so I wouldn't be surprised if tomorrow is a bad day...I'm just glad she held out and we were able to get these doctors appointments taken care of!