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.

About Abby

When Abby was born, she seemed like a typical baby.  She developed normally until she was 6 months old.  It was then that we noticed she wasn't meeting milestones, and she began early intervention at 10 months.  After a few months of physical therapy, she did begin to crawl, and at 18 months she started walking.  By that time, she was getting physical, occupational, and speech therapies to address her delays.  She was not talking, using her hands to manipulate objects, using a pincer grip, or reaching/pointing.  She also saw a developmental interventionist to address preschool readiness.  Even with all the added support, Abby just wan't catching up.  She was a happy and wonderful toddler, but wasn't making progress like her typical peers, so we started testing to see what was going on.  We took her to an evaluation center that confirmed her lack of progress, diagnosing her with global developmental delay.  We knew there was more to it than that so our next step was a geneticist.  He tested Abby for several different syndromes, all coming back negative.  The only test that we were still awaiting results for was for Rett Syndrome.  This was the one test I was the least concerned about.  The geneticist said he didn't think she had it, but she was doing some hand stereotypies while she was in his office, so he ran it just to be sure.  She had never done any hand movements before, so I didn't think there was anything to worry about.  We had Abby's 2-year well-check in the meantime.  Our pediatrician discussed the fact that Abby was still young, and even though she was delayed, she was likely to catch up especially since she didn't have any known genetic condition that would indicate otherwise.  He, too, was convinced that she showed no signs of Rett Syndrome.  We tried to be relieved, but I couldn't shake the feeling that something more was going on with Abby.

The following week we got a call from the geneticist, wanting to schedule a meeting with Wes and I.  That's never a good sign.  We had been given all the other results over the phone, so we knew this meant something different.  I tried to call Abby's pediatrician to see if they would give me the results over the phone, but her doctor said he wanted to stop by our house.  Again, thats not a good sign.  Needless to say, we knew before the appointment that Abby had Rett Syndrome.  When we saw the geneticist, he  confirmed that the test showed Abby has a mutation (R168X) in the MECP2 gene in the long arm of the X chromosome, causing Rett Syndrome.

At the time, Abby did not show many signs of Rett, other than global delays.  Now that she is 7 years old, however, Rett has shown its ugly face in many ways.  she has lost almost all her hand function, being replaced with repetitive hand movements such as patting her hands on her chest.  She still does not speak, although she loves to be talked to  and understands language.  Abby still walks, although not as well as she did when she was younger.  She has other issues such as acid reflux, breathing irregularities, bruxism, low muscle tone, and seizures.  The largest problem that she faces is apraxia, her body's inability to carry out cognitive intent.  She is trapped in a body that doesn't listen to it's brain.

Despite her struggles, Abby is the happiest little girl you will ever meet.  Can you imagine relying on others for your every want and need, but not being able to express them at all?  Even so, she rarely gets frustrated or upset.  She loves many of the things that her typical peers enjoy like listening to stories, playing games, playing in water, and listening to music.  She loves music!  Abby is an amazing girl and is such a blessing.  She brings so much joy to our lives and the lives of everyone who knows her.

Rett Syndrome is a devastating and sad, but Abby is not Rett Syndrome.  It is a part of her, but she is so much more.  We look forward to the day when Rett is stripped away, and we will hear what it sounds like when Abby says her first word.  I can't wait to see her run and play, dance and sing.   It's not an easy journey, but we have the wonderful support of family and friends.  Getting through Abby's diagnosis would have been impossible had we not believed that God had a plan for our family.  I don't know what it is, but He is in charge, and thank goodness for that.  It gives us comfort to know that, even though we can't hear what Abby is thinking, her creator can.  We pray every day for a cure for Rett Syndrome and every day we are thankful for the sweet little girl that we have the privilege of loving and caring for.

Abby's Video