I started this post on Saturday but finished today...
I'm almost too tired to write, but here goes. We had our first study appt today. It was awesome. Basically its all these awesome Rett experts who are collecting data on girls all over the country to expand the phenotype-genotype and set the stage for clinical trials. We knew right away that if we could be a part of anything to help anyone with Rett we would do it. It doesn't hurt that it takes place in Oakland, just a short (15-20 minute) drive from home!
We had the first appt slot of the day at 8am which was nice. We were assigned to Dr. Skinner, who is a geneticist from the Greenwood Genetics Center in SC-same place our blood tests were done. He and a genetic counselor named Lauren met with us in a room and asked a bunch of questions-questions we have answered a million times before but necessary for her file. Then Dr. Skinner went through the checklist for Rett syndrome-the clinical diagnosis checklist. Avery doesn't quite meet the clinical criteria-so he said she would have what is called variant Rett.
The coolest part of the visit (besides them being impressed with what she can do like say "i wanna go" and then proceed to open the door and RUN out!) was when they showed us a "picture" of the MECP2 gene. We were able to see exactly where Avery's deletion occurs on the gene. There are 4 sections called exons of the gene and her deletion is on exon 4 near the end. This may be why she is mildly affected, typically the mutations that are closer to the front of exon 4 tend to be more severe/more classic. Then there is always the x-inactivation factor.
We had to ask (even though we knew what the answer would be) "whats going to happen moving forward?". Dr. Skinner was careful in what he said but basically told us that he would be surprised to see her regress more at this point (although you never know). that's fine with us.
After the visit we took Avery home to a sitter and took Gramma back with us for lunch. During lunch all of the Super Dr's sat on a panel and were available for questions. We learned a bit about the clinical trial that should be starting in Boston soon (using insulin growth factor) and is aimed at breathing problems and longevity. Avery would not be a candidate because 1. you have to be very available in Boston and 2. she doesnt have breathing problems. But its all very interesting anyway. There is also something happening around trying to bridge the gap for girls with "Stop mutations" but Avery wouldn't fall in that category either. But still, very EXCITING. It makes me so happy to know that right now, some REALLY SMART PEOPLE are working on finding a cure for this crappy syndrome. How cool is that?
I got to see some families I have met a time or two before. We also met a new family that lives fairly close by and has a daughter pretty similar to Avery. I also saw an old client of mine who has Rett and her mom. It made me cry. It was great. We also spoke to Dr. Mary Jones about possibly starting a stimulant for Avery-there are a handful of girls that are mobile and very active like Avery and it could be helpful for focus for them. We will see!
I went back the next day to talk up the Strollathon and to meet more families. Red brought Avery by as well a little later (after they went to a birthday party). We met several other families and it was great to talk to them about their experiences. I also met an awesome mom who does advocacy for girls with Rett and we are going to have her help us with Avery's upcoming IEP! Im excited about what we can get done.
Like I said in my facebook status yesterday-I hate Rett syndrome but I love my growing Rett family.