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.

Monday, September 9, 2013

Rett Clinic Update

Every year, we take a trip to Birmingham to the Rett Clinic to see Dr. Alan Percy and Jane Lane.  They are the experts in all things Rett Syndrome.  We made our first trip when Abby was two, just a few months after her diagnosis.  At first, the visits were nerve racking.  We were scared about what new symptoms were appearing, what toll Rett was taking on her body, and what to expect.

After 5 years of visits, the appointments are much more relaxing.  It is just nice talking to doctors who understand what she is dealing with.  When I explain her most recent weirdnesses, they've seen it before.  They don't give me blank stares.  They don't have to tell me to wait, while they look up something on their iPad.  One of my biggest concerns for her now is her leaning to the right and spasming.  Her spine x-rays are straight, but sometimes she leans so much that she can't stand, walk, or sit.  When she is leaning, she is also rocking and it's impossible to straighten her out.  Dr. Percy says she has dystonia in her trunk.  Dystonia is involuntary contracting of a muscle/group of muscles causing repetitive or twisting movements in the affected area. Thats exactly what is happening to her trunk.  Not surprisingly, there isn't an easy fix.  Right now, it is happening a few times a day.  It lasts for a few minutes, and then she regains control again.  When she gets dystonic, she needs to be held or put in her wheelchair and wait until it passes.  It can be brought on by anxiety, which seems to be the case sometimes.  If the dystonia becomes more of a problem more often, then there is medication, but it isn't something that we are going to try yet.   She also has dystonia in her ankles.  That is the reason why they are twisting inwards and causing her to walk out the outsides of her feet.  She will need to wear braces on her feet all the time.  She has been wearing them at nights, but I've been less consistent about daytime wear because I wasn't really sure she needed them.  Dr. Percy says wear them all day so wear them all day she shall.  They will hopefully keep her feet from turning in and prevent her heel cords from tightening.

We also talked about seizure control.  Although her seizures are fairly mild, she still has them on a regular basis.  She has about 4-6 per month.  He thinks we need to increase her Lamictal in the morning, so we'll start doing that this week and see if it helps.  She is on a moderate dose of Lamictal, so there's plenty of room to increase until we can get them to stop.  If we get them to stop, our plan is to stop taking the Keppra.  I'm also going to talk to her pediatrician about trying Lexapro again.  She tried it for anxiety, but we didn't notice any changes.  Since the dystonia could be brought on by anxiety, it's worth it to try to manage the anxiety again.  The Lexapra dose that we tried last year was very low, so we may just need to increase it to get some improvements in her anxiety level.

Overall, Abby is doing well.  We're making some changes with meds and she needs to gain a few pounds (which is hard to believe because she eats A LOT), but that's always the case.  She is always so happy seeing Dr. Percy, and is determined to see what is written in that folder of his. She constantly hovers over his work and pats his papers.  This visit, she managed to knock the whole thing on the floor.

I really don't know what we would do without Dr. Percy and his team.  Their advice drives most of the decisions that we make about Abby's care.  They make recommendations of her specialists, which they always follow.  They are always available to answer questions or write recommendations.  Dr. Percy's letter was one of the things that got our district to provide her a designated aide in the classroom.  The dedication they have to girls and women with Rett Syndrome is just amazing.        


  1. Emmy is on a very low dose of propranolol (2ml 2X a day) for anxiety. It is used for a variety of things but its main purpose is to stop the flow of adrenaline when she begins to feel anxious. It seems to be a straight forward medication (she has no side effects) and it has worked wonders for her! I was asking our neuro (Dr. Heydeman in Chicago) about Lexapro or other anxiety meds and he suggested we try this first. I just wanted to share since anxiety is one of Emmy's biggest issues and I know how frustrating it can be to find things to help.

    1. Thanks so much! We have a consult next week, so I'll definitely mention propranolol. Anxiety is the root to so many of Abby's problems. It would be fantastic is something could give her some relief.