Monday, May 5, 2014

10 Years Later...

It's been 10 years since we got the official diagnosis of Rett syndrome for Abby.  Rob and I sat in the office of the medical geneticist who did her best to gently break the news to us.  We were a little impatient because we already knew what she was going to say. After four years of searching and grieving, we were relieved to have the confirmed results of the blood test: The random C to T nonsense mutation in the MECP2 gene codes for a stop signal so that protein can't be finished.  This affects all kinds of changes in the nervous system which causes all kinds of disabilities and challenges for Abby.

But none of that explains Abby.  She is not defined by her diagnosis.  She is the same person she would be without Rett syndrome. 

(Take a minute to think about this.)

Abby's enthusiasm shines on everyone she meets. She loves her family and friends and horses and music. She has a great sense of humour!  She enjoys watching sports with her brother or dancing with her sister.  Lately, we are getting to know more and more about what she's thinking, thanks to the use of eye-gaze technology
(Stay tuned for future posts on this topic.)

For 10 years, we have been involved with the Ontario Rett Syndrome Association and we've had the privilege of meeting dozens of other families living with Rett syndrome.  These days, many of the girls are being diagnosed as young as two years old.  I have such mixed feelings when a new family connects with us.  I am happy to offer support, but I also worry about what they may have in store. The early years can be so hard.  No one else should have to go through that.  I am usually at a loss for words.  All I can muster is, "You will be okay."  I've thought of trying to write a piece called, "Dear Newbie," but I can't get past the title.  The closest thing I've found is in a Diary of a Mom post I read recently.  The point is, you get to a place where Rett syndrome is just this thing you have to deal with and your child is still your child and you are so very thankful to know her and to love her.

Ten years ago, I know I was still overwhelmed by the obstacles Rett syndrome throws at you.  But thanks to the help and support of a big network of family and friends and support workers, we are now living our lives like an almost-typical family. (I won't suggest we're normal!) 

Ten years ago, there were no medical clinics with Rett syndrome experts. Now, thanks to O.R.S.A., there are 3 Rett syndrome clinics in Ontario.  Abby has a whole team of medical specialists who check up on her once per year.

Ten years ago, Abby was starting school and still spending much of her day screaming. We knew very little about school programming or Individual Education Plans or teaching literacy skills to nonverbal learners with no functional hand use.  This year, Abby has received an eye-gaze device and, for the first time, she is writing her own words, so she can say whatever she wants to say! (We are just beginning this daunting process, but we have an enthusiastic learner!) Abby recently got her own email address and Facebook account and she's been enjoying looking at photos from her friends.

Ten years ago, I'd never heard of a Rett syndrome conference. Last week, we attended our sixth O.R.S.A. conference.  It was a jam-packed weekend of connecting with others and learning from expert speakers. This year's conference also featured a symposium for 30 scientists and clinicians from across Canada. At the conference, O.R.S.A. launched the Canadian Rett Syndrome Registry, so there will be a database of Canadian patients with Rett syndrome to help drive future research and treatments.

Ten years ago, there was no Run4Rett. A few months after Abby's diagnosis, my sister dreamed it up and involved the entire family in making it a reality. This year, we look forward to participating in the 10th annual Run4Rett on Sunday, September 21st, 2014 in Richmond Hill, ON.  We hope you can join us!

Team Abby participates each year in the Run4Rett to raise awareness and funds for the Ontario Rett Syndrome Association.  Your donations directly help Abby and several other girls, women, and families in Ontario. 

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