Tuesday, November 8, 2011

Natural History Study

This past weekend we took Emmy to her first Natural History Study for Rett Syndrome at Rush in Chicago.  This is basically a research study of the natural progression of the disease over time.  Since Rett Syndrome wasn't identified in the U.S. until the 80's there is not a lot of data out there that provides a clear picture of this disease.  Once the medical community knows more about the disease then they will be better able to come up with treatments for the girls.  So not only do we help the research process by participating we also get to ask questions and actually get answers!

Yep, get answers!  Instead of walking into a doctors office while they're googling Rett Syndrome we got to talk to doctors who work at a Rett Clinic at Baylor College in Houston.  They see girls with Rett Syndrome all day, every day.  Any weird problem we threw their way, they pretty much had an answer.  I fired off questions while John had the pleasant task of keeping Em happy for hours and hours in these tiny little exam rooms.  There were no invasive tests, just some measuring and lots of questions to answer.  There were times when I was sitting there that I felt like the whole situation was so surreal.

Really, is this happening?  Am I really sitting here asking questions about seizures and life expectancy?  Will I wake up anytime soon?

Nope.  This is as real as it gets.

So although it was not the first place I would've picked to spend a beautiful fall Saturday afternoon, it was where we needed to be.

Hello, my name is Emmy.  I would rather walk the hallways and press elevator buttons than listen to a bunch of neurologist answer questions at a panel discussion.  Dig my crooked part?

Playing "Daddy Flick Face".  Just some of the abuse John took that day : )

One of the most interesting things we learned is that, in their data base of MECP2 mutations, they were unable to find one that matched Emelia's.  Is this good or bad you ask?  Well, that is one answer the doctors didn't have.  There are about eight mutations that are common but over 200 recorded.  The eight mutations that are common have been studied a little further and they can make some predictions (although not always right) based on a girls gene mutation.  But our Emmy is one of a kind : )  No predicting here.  Just more hard work and another round of "Daddy Flick Face".


  1. So glad you were able to get loads of answers, Colleen! At least that's a small relief perhaps.

    I had a dream about Emmy this week -- she was smiling, and so, so happy.

    Hugs for November!

  2. i too have those same feelings when we are at our study appt. "is this FOR REAL?" "Im spending my saturday HERE having Avery weighed and measured and watched?" but then I go out to the waiting area and hug my new friends and we laugh and joke and talk about our rett stuff and get understanding looks and nods. and we feel totally in the right place. and I LOVE knowing that the info they are gathering is moving us toward a cure!

  3. It is really wonderful that you are participating in the study. I am hoping and praying for treatments and cures for Rett's. It must have felt good to be able to talk with people who are experts in this disease. Emmy is truly one-of-a-kind. I smile when I think about her sweet face. Thanks for sharing your blog

  4. So glad that you got to fire off all the questions. Even when they don't have answers isn't it nice to at least feel like if there was somebody with the answer, it would have been them, so it isn't like it is still out there to find out. Emmy looks great in the pics! Such an amazing little girl :-)