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.

Wednesday, May 7, 2014

Abby's first visit to Boston for the IGF-1 Trial

Though I haven't blogged in a while, I think this is a good time to start again.  We just got back from our first trip to Boston, where Abby is participating in the IGF-1 trial.  We enrolled Abby in the trial a couple of years ago, and again in October.  We are so very excited to finally get started! This trial is the first ever designed to treat Rett Syndrome, rather than just addressing individual symptoms of the disorder.  IGF-1 is already FDA approved to treat children with a deficiency of IGF-1, which leads to growth problems.  The expected outcome is that the growth hormone will aid in the maturation of the synapsis in the brain. The immaturity of the synapsis in the brain of those with Rett Syndrome prevents the signals from the brain from getting to the rest of her body.  The potential effects are improvements in behavior and communication, decreases the irregularity of her vital signs including breathing and heart rate, decreases in anxiety and hand stereotypies, and improvement in the way the brain communicates with the rest of the body.  It's very exciting to be a part of this trial, as the potential could be life changing for Abby and all girls with Rett Syndrome.

We were in Boston for 2 weeks, while the researchers assessed Abby to verify that she was a good candidate for the trial and to do a lot of baseline assessments.  The tests are all non evasive, and Abby handled them like a rockstar.  I was concerned that being away from home and having to undergo these tests in a strange place would be stressful for her, but I think she understands that everyone that treated her was trying to help her.  The team in Boston is wonderful.  They were comforting to her and they made me more confident that enrolling Abby in this study was the right decision.  

    Abby very much appreciated EEG helmet.  It was much easier, comfortable, and less painful to put on than the ones used at most hospitals!  
Much of the testing was just monitoring Abby's breathing, heart rate, and hand movements.  She wore bands on her chest and sensors on her hands that detected movements. 
Dr. Kaufmann, the principal investigator, was wonderful.  I'm very comfortable with her in his care for the duration of the study. 

After 12 days of testing, the day finally came for us to get Abby's first dose of the medication. I've never given myself or anyone else an injection of any kind, so I was a little nervous.  After instruction by the nurse though, it was easy.  Abby didn't even flinch and had no adverse reaction.  We will continue to give her the injection twice a day for the next 20 weeks.  After 20 weeks, she will get no injections for 28 weeks to washout any medication in her system.  She will then start taking the injections again for 20 weeks.  One of these 20 week periods will definitely be IGF-1, while the other will be a placebo.  We don't know when she will get the IGF-1, but we hope she's getting it now!  It will take her a few weeks to work her way up to the full dose, so we don't know how long it will take for us to expect to see some improvements if she is on the drug. We'll have to just wait and see. 

We tried to make the most of our trip to Boston.  Wes, Logan, and myself went with Abby for the first week of the trip, and then the boys went home for the second week.  We wanted Logan to see what Abby was doing in Boston to help him understand the injections and the trial.  While the four of us were there, we had a few days without appointments that we took full advantage of.  
Happy Easter!

Go Red Sox!

Having to travel to Boston 6 times, with 4 of those trips being 10 days, is quite an expense.  We enrolled Abby in the trial and then immediately started looking for ways to make it happen. We are so blessed to get connected with the Molly Johnson Foundation.  After hearing Abby's story, they graciously offered to fund our transportation for our trips to Boston.  We are SO grateful!  They even stopped off the week of our trip and dropped off a care package to help get Abby ready for the trip.  She was so excited when she came home from school to find a bag full of goodies, PJ's, treats, and fun travel games.  Their support, and the support of family and friends has been awesome!    

We have a long way to go, but we're so excited to be a part of this trial.  It feels like we are in the process of finding a way to make Abby better, rather than keeping her from getting worse.  Four years ago, we were told that Abby had Rett Syndrome.  We were told that there was no treatment, and even if there was, she would never be eligible, as the damage to her brain was permanent.  A lot changes in four years.  On our four year diagnosis anniversary, we were in Boston participating in a drug trial to treat Rett Syndrome. This drug trial is only the first of many. We are so much more hopeful for Abby's future than we even have been before!!   


  1. this was awesome to read! so glad I got to pop in and see you four while I was there! THANK YOU for doing this!!

  2. I am so glad that you are doing this! Looking forward to the last three trips and hope we get to go together with that Rockstar Abbey. xx