Hello. My name is Abby. I'm eight years old and I was diagnosed with Rett Syndrome when I turned two. My parents work hard to help me make sense of the world around me and this blog is meant to help others understand my world and my journey with Rett Syndrome.

Tuesday, February 8, 2011

Natural History Study

Abby had a visit with Dr. Percy and Jane Lane last week.  We see them every 6 months as a part of the Rett Syndrome Natural History Study.  They collect data on Abby and we get a chance to talk about any concerns we are having with Abby.  It's so great to talk to doctors/nurses who know Rett Syndrome.  I think Abby is developing a crush on Dr. Percy.  She giggles nonstop every time we see him.  She has a way of falling on people when she wants them to pick her up.  He had to hold her....a lot. She's a flirt.  

Overall, they think she is doing well.  Like us, they are excited for her to get an eye gaze device.  They want to check her calcium and vitamin D levels because she has had a couple fractures this year.  Although her anxiety has increased a lot this year, they don't think its at the point of requiring medication at this point.  Its good to know that they have seen success with medicine though, in case her anxiety worsens. I attribute a lot of her not-swallowing episodes and not-walking episodes to anxiety, at least partially....I think.  It hard to tell.      

There are some concerns that she is getting a curve in her spine.  Bummer. We know the likelihood of scoliosis in people with Rett is very high, but we were hoping to avoid it.  It doesn't seem to be the case though, as she is leaning quite a bit to her right lately.  She has an appointment for an x-ray scheduled in a few weeks.  Dr. Percy noticed that one of her legs appears a little longer, which could cause her to lean.  Hopefully that is the case, but an x-ray will give us a better picture of what is going on. There was another time that her doctor suspected scoliosis, but an x-ray showed that her spine was straight. I am really hoping that is what happens again!!!  

Another concern is her BMI.  It has been decreasing for a while, and is now 13.8.  We were told that it needs to stay above 13 to avoid supplemental tube feedings.  To keep it from getting that low, they suggest two nutritional drinks per day that are high in fat and calories (Boost Kids Essentials 1.5).  We have tried this before, but the high fat drinks aggravated her reflux.  We're hoping that we can increase calories and fat without causing other issues. We may have to adjust her reflux meds, but surely we can figure out a way to get some weight on little miss skinny.

It wasn't the "everything's looking great" kind of visit, but we got some good information and have a few steps to take to get things moving in the right direction.      


  1. I'm glad you got to go. I'm also glad that you were able to see it as a positive experience in spite of the action items. I'm getting there.

    I'm learning that it's just Rett, and I need to expect it. The unexpected. They look happy. They look beautiful. You're doing great.

  2. Yay for Abby doing so well but boo for the possible scoliosis. I hope you get some good news from the x-ray!