Rett Syndrome Awareness

October was Rett Syndrome Awareness Month.

O.R.S.A.'s goal was to have people tell personal stories about how their lives have been affected by Rett syndrome. Many people shared their stories on social media. Some got local media coverage.

One of the month's highlights was the purple lighting of the CN Tower on October 25th.  This photo from that night was shared around the world.  A social media experiment, called a "Thunderclap" helped us increase the impact of social media by sending out our "What is Rett Syndrome?" video via 121 people to thousands of followers at the same instant on October 25th.

I have told parts of Abby's story on this blog, and previously, through an article published in the Exceptional Family magazine.  There have also been a few local newspaper articles about Abby.  Still, I felt I should do my part for this year's Rett syndrome awareness.  I contacted our local CTV news station to see if they would be interested in doing a story on Rett syndrome.  I suggested Abby's new communication technology would make a good story and sent them the link to my "No Longer Speechless" blog post. 

They were interested! A videographer arranged to come to Abby's school on October 25th, coincidentally the same day as the Thunderclap and the CN Tower lighting.  Abby was thrilled with all the attention and showed us all what she could do with her Tobii eye-tracking device.

The Kitchener news story was great, but we were all surprised when the national network decided to run the story across the country on the evening of October 25th.  It also played on their news review loop throughout that weekend.  We've heard from many people who saw Abby on TV. 

Despite some medical challenges, this has been a good year for Abby and for Rett syndrome awareness.  This is the year of the communication device.  Abby is one of the people breaking new ground to show others what can be done when communication becomes more accessible.

Thank you for another great day!

Thanks to all of you for sponsoring Team Abby this year!  Our group had a great day (Ben won the 5K!), but I was most struck by all the new families there - many little girls, each with a new diagnosis.  They were able to connect with others for support. Your donations help all these Ontario families through research, medical clinics, conferences and the patient registry (which has just kicked off, to prepare for clinical trials!). 

Thanks for your continued support for Team Abby and the Ontario Rett Syndrome Association! For more photos of the day, check out the O.R.S.A. Facebook photo album.

2013 Run4Rett

This year's Run4Rett will happen on Sunday, September 22nd!

You can find more details at the O.R.S.A. web site or check out the Ontario Rett Syndrome Association on Facebook and join our Run4Rett event page.

Here are some quick links for what you might need:

• Pledge form
• Registration form
• Online registration
• Sponsor Abby online
• FAQ

Team Abby will have yellow shirts this year! Pick yours up when you get to Richmond Green park.  Sizes will be available on a first come, first served basis.  We will attempt to take a team photo after the 1K route and before the 5K begins.


If you are not able to come and would like to make a donation, cheques can be made payable to "Ontario Rett Syndrome Association" or "ORSA."  You can also donate online through www.rett.ca or www.runningroom.com.

Abby benefits directly form the work of the Ontario Rett Syndrome Association and we thank you for your continued support.  Be assured that your generous donations are put to good use helping families with Rett syndrome in Ontario and the rest of Canada.

No Longer Speechless

Abby has had her new eye-gaze system for a few months now.  It allows her to control the computer with her eyes, much like the click of a mouse.  She can look at a word, symbol, or picture, and the computer “speaks” the word(s).

Eye-tracking technology has been around for a few years, but it’s now much more user friendly.  Abby’s computer system was created by Tobii.  The system includes a camera with near-infrared illumination which creates reflections on the eyes to track their gaze. 

Abby uses her computer to communicate needs, as we expected.  She often chooses, "I'm hungry," which takes her to several food choices.  Someone suggested to me that we should remove the choices for foods we don't have.  I disagreed.  People often talk about what they'd like to eat, regardless of whether it's available. 

In the past, when Abby was having some kind of pain or medical distress, we did not have any way to pin point the problem.  Now, she will often use her computer to say, "I am sad." or "Something is wrong." These choices take her to pages with more specific information about what might be wrong. We continue to add choices as we figure out what she might be trying to say.  A few days ago, Abby was very upset and crying and we couldn't figure out what was wrong.  She refused to use the computer (likely because she knew the word wasn't on there).  Then, she let out a huge burp, followed by a smile.  Needless to say, we now have "I need to burp" as one of her choices on her computer.

When Abby is feeling well and not too hungry, she will use the computer for social conversation.  She loves to say "Hi" to people.  She likes to talk about what has happened, using "Guess what I did?"  She often tells me, "I'm bored," which takes her to a page where she chooses, "I want to go outside" or "Can I please go for a stroller ride?"  

Abby goes for long periods of time without choosing to use the computer.  She is more likely to use it when she is alone in her room than when someone in watching her and waiting for her to "perform."  She still relies on nonverbal communication because that's what comes naturally to her.  Today, we had a new personal support worker in the home and Abby became quite chatty with her on the computer.  I'm guessing that's because the new person had no experience with communicating with Abby any other way.

Sometimes, Abby's computer communication will come with bursts of excitement.  One day, she was eating supper and spent most of the meal telling me about how hungry she was and choosing all the foods she wanted.  Then, near the end of the meal, she chose a bunch of different buttons, in quick succession.  It went something like this: "Hi, Mom. Awesome. Thanks. I love you."  

Another time, we had several guests around the table for dinner and the conversation became quite noisy.  We are used to Abby quietly sitting by, listening.  But when Abby's grandma began to tell a new story, Abby interrupted by saying, "I don't like that noise."  We all burst out laughing.  Then, Abby laughed because we were all laughing.

Besides the incredible technology itself, the most surprising thing to me is the direction Abby's conversation takes.  Even though I am convinced Abby understands everything and thinks like the rest of us, I'm still surprised when she expresses thoughts beyond her basic needs.  One day, we were coming home from a walk and Abby was quite distressed.  As I brought her into her room and started up her computer, I commented quite a bit about how she was going to be able to tell me what was wrong and I was going to try to help her.  Once she got settled in front of the computer, I expected her to go directly to "Something is wrong" and then tell me what hurt.  Instead, her first words to me were, "Thank you." 

Living with Rett Syndrome

Abby lives with Rett syndrome.  

It bothers me to hear someone say or write that Abby suffers from Rett syndrome.  I want to point out that her life isn't all about suffering.  Rett syndrome presents many challenges and frustrations.  There are times when it feels all-consuming.  But Abby is not defined by her medical symptoms.  She is so much more than Rett syndrome.

Our family lives with Rett syndrome. 

This past spring was a challenging time for Abby.  An abnormal blood test result led to a very long, horrible lesson in "leave well enough alone."  At her doctor's suggestion, we took her off her medication which controls some nervous system symptoms, such as biting her hand, hitting her head, and head-banging.  That did not go well.  Her doctor prescribed another medication, which only made things worse.  Much worse.  

If I try to describe it in words, I cannot do justice to the extent of Abby's misery.  I began writing daily emails to her doctor, describing the symptoms, watching our sanity sinking, about to take our whole family with it.  Abby was suffering from Rett syndrome for several days.  And we were struggling to help her.

With the approval of the specialists at the Rett clinic, Abby is back on the original medication now, and generally back to being her typical self.  She still lives with Rett syndrome.  She still has to navigate obstacles every day.  She still has to go to several medical appointments this summer.  She still needs full assistance with the activities of daily living.  But she is not suffering.  She is living. 

Abby was thrilled to attend her Grade 8 graduation ceremonies recently, mostly because she got to be all dressed up and be the centre of attention!

Her really big news, though, is her new eye-gaze device which has finally given her a voice to tell us what's on her mind.  Now that we've got ourselves back on solid ground, I look forward to writing my next post about Abby's words.

Let's Talk!

With Rett syndrome, communication is tricky.  I know that most girls Abby's age are talking or texting for much of the day.  She's a teenager now and teenagers are social creatures. 

Recently, I created a Prezi for her peers at school, to help them understand how to communicate with Abby.  Now that they "get" the basics of Abby101, they are asking to hang out with her and that has changed the dynamics of her school experience.

Although I still think regular brain function would be simplest, I'm excited about the new developments in eye-gaze technology!  Next week, Abby will go to her official assessment for an augmentative communication system.  It's been a long process with a lot of homework involved, but there is the potential for Abby to say things she could never express through traditional eye-gaze communication.  

Abby got to try out the new technology at the O.R.S.A. family conference last year.  What amazed me most was how quickly she could respond to the questions.  You get so used to the response delays, you can forget that the main problem is apraxia.

Beyond the possibilities for Abby and others on a personal level, this new technology is opening up renewed interest in scientific studies of communication and cognitive function. The world won't have to take our word for it anymore.  We will have proof.  These people with Rett syndrome are smart, they understand everything, and they have a lot to say!