Information for friends, family, and supporters of Abby, a young woman with Rett syndrome.Team Abby participates each year in the Run4Rett to raise awareness and funds for the Ontario Rett Syndrome Association. This year's event was on September 16, 2018 in Richmond Hill. Thanks for all the support!
We had another successful Run4Rett on October 15th! The weather was not picture perfect, but we brought our own sunshine!
Abby with her grandpas
To my surprise, Abby walked the entire 1 km route! She was coached by her grandpas and cheered on by many fans! She was feeling good all day and enjoying all the attention! It is by far her favourite day of the year!
Many of us ran the 5 km route. There were some light, refreshing showers to start us off, but the big downpour held off until after the event. It was great to see all the Team Abby shirts! I was also encouraged along by all the young kids on Team Erika who never seemed to run out of energy!
There were a dozen different families representing girls and women with Rett syndrome. The Run4Rett is a great way for us to show support for each other and to feel the support of family and friends. I was happy to connect with some families I hadn't seen since last year. Representatives from the Ontario Rett Syndrome Association were on hand to provide resources and answer questions. Dr. Eubanks (University Health Network) was there with his family and many students and staff from his research lab. Thank you all for coming!
Thank you to everyone who came to offer support to Team Abby! Every year, it is a slightly different mix. Special mention to Trish for coming all the way from Vancouver and sponsoring our shirts again this year. Thanks!
Abby with caregiver, Emma
Thank you to everyone who came to volunteer! Special mention to Tim and
Cindy for the bulk of the organizing for the silent auction. It runs
so smoothly, most people don't realize how much work goes into it. The
auction raised about $3,400.
Thank you to everyone who donated money in the form of pledges this year! The event raised over $40,000! Year after year, we are gratefully amazed by how many people are willing and able to pitch in. Rest assured that your money is being put to good use. The Ontario Rett Syndrome Association funds many programs which benefit Abby directly. We appreciate your support!
Spring and summer were difficult for our family this year. Abby's Uncle Mark and Grandma Liz each died. Abby attended the ceremonies and cried tears of sadness. She also joined with us in being comforted by the extra time spent with family and by the support of so many friends.
I am still not ready for September, but it has come and gone. We're back to work and back to school. All the fall busyness is in full swing and I'm still feeling like saying, "What a minute; I'm not quite ready."
In much the same way, after all these years, I feel like I'm not quite prepared yet to have a child with Rett syndrome. There is a lot to learn and adjust to and we are always learning. There are often new symptoms, new life stages, new challenges, and new questions. You are never ready.
Compared to last year, Abby has been relatively happy and free of new symptoms. She's adjusted well to her new class and teacher at school. She even took in the fall fair (albeit with headphones), with all its sights and sounds. She loved seeing the farm animals and shouted with delight at the newborn baby pigs. Just a few years ago, that would've been an impossible outing, due to sensory overload.
October is Rett Syndrome Awareness month. I put together a short new video to show people who still don't know about it. New families are still being hit with this diagnosis, fully unprepared as we were.
All funds from the Run4Rett
go to the Ontario Rett Syndrome Association. This year's Run4Rett is just two weeks away. If you still would like to register, you can do it online or in person. You can also download a pledge form for collecting pledges.
Team Abby shirts have been ordered. This year's design is by Abby's sister, Caroline. Special thanks to Park Royal Physiotherapy & Sports Injury clinic for sponsoring the shirts again this year!
When you get to the event on October 15th, you will find the pile of shirts inside the "barn" by the Silent Auction. Just pick your size. First come, first served.
We look forward to seeing those who can come! We'll post photos for those who can't come!
Thank you to all of you
who have participated this year or any year by walking, running,
pledging, cheering, or donating! Thanks also to all the generous people
who donated to O.R.S.A. in memory of Mark or Liz. Over $10,000 was
raised through these memorial donations. It is gratefully appreciated by all.
Registration is open for this year's Run4Rett. All the details are on the Run4Rett web site.
There are quick links at the right side of this site to register online or sponsor Team Abby. The money all goes to the same place, no matter whom you sponsor.
Once again, we are welcoming any T-shirt sponsorship available. We will need to get these ordered soon, so let us know if you can help out or if you have an idea.
Team Abby is delegated to the running the Silent Auction again this year. If you'd like to volunteer, sign up online and indicate Silent Auction for all your choices. If you have items to donate or ideas or leads for items, please let us know.
Check this site for updates in the next few weeks. We look forward to seeing many of you on October 15th.
It's been six years since the first Run4Rett in Ontario. As many of you know, it was the inspiration of Abby's aunt, Judy. She thought it would be a fun way to raise money and awareness for Rett syndrome. We had just been to our first O.R.S.A. conference in Ottawa (2004) and saw all the great work done by the Ontario Rett Syndrome Association. The whole family soon got involved and the idea developed into the major annual fundraiser for O.R.S.A. It took a real team effort to make it work, but the bulk of the energy and organization came from Judy.
Abby shares an important bond with each of her aunts, uncles, cousins, and grandparents. She and we are blessed to have such a big, supportive family. Abby feels that support in many ways. The crowds of people who show up for the Run4Rett each year are a shining example of how such support can lift her spirits and keep her motivated on the challenging days throughout the year.
This year has been a challenging year for Judy. Last summer, she was diagnosed with Stage 3 colon cancer. She's been through surgery and a grueling six months of chemotherapy. She has put a positive face forward through all the difficult days.
Naturally, Abby wanted to do something to honour Judy this time. Rett syndrome leaves a person almost completely dependent on others. What could she do to contribute and be a helper for a change?
Abby decided to donate her her to Angel Hair for Kids. She is always getting comments on her beautiful hair, so why not share it with someone in need? When I explained the idea to Abby, she got excited right away and she didn't hesitate to agree to do it. She got to "tell" her class all about it the week before and they were full of questions about what would happen to her hair. Abby thoroughly enjoyed being the centre of attention for the day!
Twelve inches of Abby's hair was donated and she was sent a thank-you certificate from the organization. She has been proudly strutting around with her new look ever since.
I thought Abby might agree to participate in this, but I completely underestimated the how excited she would be to be the giver, instead of the recipient, for a change. It really does feel better to give than to receive. Something to keep in mind with anyone who depends on others for so much. The whole process turned out to be a gift to Abby.
Abby got her hair cut in April, during cancer awareness month. In June, she will join our whole family in the Relay for Life. Most people are now closely affected by someone who has cancer. Abby's Grandma Liz has also been struggling with cancer full time. We will walk in honour of Judy and Liz especially this year.
As promised, I am going to attempt to explain some of the Rett syndrome research, for those of you who don't already have your PhD and/or haven't been to a lot of conferences on Rett syndrome. This is a daunting task. It's tricky to understand and tricky to explain. The amount of research out there right now is overwhelming, but that is the good news! There are many reasons to be hopeful.
This post is just a snapshot of what I find interesting, with links to more helpful writers. I will definitely be missing some important findings. Please let me know of any errors and I will update as needed.
Rett syndrome was first described by Dr. Andreas Rett in the 1966. His original German publication was translated into English in 1977.
Rett syndrome became more well known in the English-speaking world when Dr. Bengt Hagberg published an article in the Annals of Neurology.
In 1999, the year Abby was born, the MECP2 gene was linked to Rett syndrome at Baylor College of Medicine by Ruthie Amir and her group, led by Dr. Huda Zoghbi. Abby's mutation is on the MECP2 gene, as it is with most people with Rett syndrome. Recently, other genes have been linked to Rett syndrome, namely CDKL5 and FOXG1. Rett syndrome is an X-linked dominant disorder and it is therefore usually only found in girls.
In 2007, a study by Dr. Adrian Bird showed the reversal of many Rett symptoms in a mouse model. This groundbreaking discovery demonstrated that brain abnormalities in Rett syndrome are not permanent. This raised interest in Rett research around the world. Toronto scientist Dr. James Eubanks has been able to replicate this finding in the female mouse model. He has even seen dramatic improvement very late in development in the mouse model. Although this method cannot be directly used in humans, these studies demonstrate that treatments for Rett syndrome are quite feasible, even for older individuals.
Recent advances in stem cell technology have made it possible to produce a human Rett nerve cell in the laboratory. This new type of technology does not involve the use of embryonic cells, so it holds more promise for wide use in research. Dr. James Ellis is a leading Canadian researcher who works with these reprogrammed cells. In 2010, Dr. Alysson Muotri's group got world-wide attention for developing a stem cell system derived from people with Rett syndrome to test drug treatments. The timing for this coincided with one of the first major clinical trials for Rett syndrome in Boston.
There are other recent, noteworthy studies, for those who want to learn more:
There is every reason to be excited about Rett syndrome research! From what I've heard, there's an abundance of ideas about what to do next. We just have to keep raising awareness and funding to keep the ball rolling.
Knowing the nature of Rett syndrome, in all its randomness, I always hesitate to say that things are going well. I am not superstitious, but I realize any relief from difficult symptoms is often temporary. We Rett parents are always waiting for another shoe to drop.
After almost two years of dealing with regular crying episodes, Abby is putting them behind her, at least for now. At the worst of it, we were giving her Gravol almost daily to allow her some relief. Since November, and her strange, temporary inability to stand up or walk, she has not needed to take Gravol at all. The crying episodes continued, but the severity decreased. Now, in January, they seem to be a thing of the past. Let's hope it lasts!
Some may wonder what caused this positive change and we can only guess. Here are my top 4 guesses:
1. Random Rettness (there is no known explanation)
2. Leveling off of hormones or nervous system changes which accompany adolescence
3. Landing on the optimum dose and type of medication (risperidone, in this case)
We started using arm braces regularly with Abby in December. They are used to restrict her arm movement at the elbow. The idea is to prevent her from hitting her head or biting her hand during her worst episodes of distress. But the real benefit is the calming influence they have on her. Her neurologist explained that they interrupt the negative feedback loop in her nervous system when she starts to become distressed. They prevent her from becoming more distressed. They have been so useful that she actually looks relieved when we pull them out to put them on her.
Some people have been asking how Abby's doing with walking now days. After the problems in November, she was completely back to her usual mobility. A few days ago, she seemed to resist walking in much the same way. It is scary to watch, but I pushed her to walk, and she bounced right back on the same day. I have heard from a few other parents that their girls have temporary periods of not walking and then all mobility returns.
Some of you have also been asking about the Rett research news from the last few months. My next post will attempt to explain some of that. It is complicated, but there is some promising progress! Stay tuned.