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.

Friday, June 3, 2011

IRSF Conference 2011


What an amazing weekend! The conference this year was even better than last. Here's my attempt to summarize some of the highlights:

First of all, I got to spend time with my Rett family.  Many faces I had already met, and some have only been in our club a few weeks. These are friendships that were made because of the diagnosis of our daughters.  These women have changed the way I see our journey with Rett Syndrome.  Their support and insight gets me through those rough days.  It is always wonderful to actually see them in person, instead of keeping in touch only online. The atmosphere is so comfortable.  The laughs and tears come very easily among this group, especially on a weekend like this, when we have so much to be hopeful for, but are constantly reminded of the difficult reality of our daughter's diagnosis. 




One of the memorable moments of the weekend was the keynote speaker, Dick Hoyt, of Team Hoyt.  The man is the father of a Rick Hoyt, a young man with cerebral palsy.  He has raced with his son in marathons, triatholons, and Iron Man races across the country.  His story is amazing.  He has opened doors for his son in a way that I just can't even believe. So inspiring!




In the world of Rett Sydrome Research, there is much to be hopeful for.  The acceleration of research has led to the first ever drug trial to treat Rett.  This trial is taking place at Boston Chilren's Hospital, and was one of the leading reasons for my attendance at the conference.  I was so excited to hear how the trial was going.  I attended several sessions discussing the specifics of the trial.  While I was in the session, it all made perfect sense to me.  When I tried to recall this information when I returned home, I was at a complete loss.  You will have to trust me that it is all good news.  The IGF1 trial has real potential.  Phase I of the trial is nearly complete.  There have been no adverse side affects of the drug.  Yay!  Secondly, there are improvements in function of the girls taking the drug.  That is a great thing.  For those of us with girls with Rett, improvements are not taken lightly.  Abby has been working on walking up steps for 3 years with no improvement.  She has been in speech therapy since she was 2.  She has been trying to put her spoon to her mouth for nearly 2 years.  She has been trying to grasp objects with her hand since she lost the skill 4 years ago.  Can she do it? Not so much.  And she works really hard.  She goes to therapy a lot and practices every day at home and school. Improvement often seems out of reach, rather maintenance of function is our goal. If she doesn't lose a skill, we are happy.  It would be remarkable for Abby to receive a drug that would improve her function.  The neat thing about this drug is that is doesn't just target one symptom.  The increase in IGF-1 is proposed to mature the synapsis, which would improve multiple symptoms.  It almost sounds too good to be true.  I got goosebumps listening to the remarkable progress that is being made and the researchers and doctors that are making it happen.  I think the Rett Syndrome World Congress next June will give us even more exciting news!

It is truly humbling that so many brilliant people have dedicated their lives to helping our girls.  Of course, the IGF-1 trial is not the only avenue of research that is currently being pursued.  There are other trials in the making and other ideas being explored.  I feel more hopeful than ever that a treatment or treatments will be available soon that will dramatically change Abby's life. Yeah, I am actually letting myself believe that without trying to protect my heart from the disappointment of the "what if is doesn't happen".  It will happen.  
Dr. Omar Khwaja, lead researcher for the trial (and one of my new favorite people)

Lastly, I went to sessions that helped me better understand eye gaze communication, gastrointerology, endocrinology, education, literacy, and genetics in relation to RS.  It was packed with useful information that I can use to help with therapies, communication, medical issues and the transition to kindergarten.  The speakers were so knowledgable and down-to-earth.  As a parent of a child with special needs, we are often faced with what our kids are unable to do.  It is refreshing to spent time listening to experts tell us what potential our kids have.  It reaffirms what we do everyday.

     
I'm not at all superstitious, but this was the fortune in my cookie on Saturday night.  I'm just saying....

  


      




3 comments:

  1. Wow!! Sounds like good news for all the girls and their families.

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  2. so so so good to see you! great post!

    ReplyDelete