It was a busy day today! We had a new nurse working today and everything went really well. Reagan was in a great mood, so that was a plus! She had PT this morning and then shortly thereafter we left for her yearly follow up with her metabolic geneticist. She was great for the appt which was rather long because palliative care also piggybacked onto the appt (two for the price of one)! She was a little vocal at times, I thought all of the people might aggravate her a little, but she held it together. I told her geneticist about all of the new info we found out from Houston, so he was very interested to hear about that. After the appt we rushed home to find the school OT already there waiting on us! We rushed Reagan upstairs, changed her diaper, and then put her in her wheelchair for OT/school/vision! Busy, busy day! She did so well though. Her vision therapist was very pleased with how well she was tracking today (her last visit Reagan was definitely having an off day vision-wise)! After getting home I also got a call from the Houston geneticist telling me that they also found something in Reagan's Chromosomal Microarray (an intragenic duplication in chromosome 10p15.2 that likely disrupts the reading frame). They have to test both Mike and I to see if either of us have the same thing (if we do, then it's obviously not disease causing, since Mike and I are both healthy). He still thinks the other mutation is the significant one though (since they now have identified 7 kids with it all very similar to Reagan). So we'll see. It will take them a while to check us, but I'll let you know what we find out from that. All in all it was a great day. Super busy, but very good. Hoping for another good one tomorrow!