Saturday, August 12, 2017

Summer 2017

We are looking forward to this year's Run4Rett on Sunday, September 17th in Richmond Hill!

Helpful links:

Bring your own Team Abby shirt if you have one! Any colour. We have tons of extras, too.

Abby, Caroline, Ben
Abby's having a very good summer, enjoying outings around town, shopping and swimming (pool therapy). She continues to have cycles of difficult days with lots of discomfort, but it hasn't been as serious as it was during the winter months. She almost always sleeps at night now. We've worked with a doctor to gradually eliminate all medications since they weren't really helping anything any more. Recently, Abby really enjoyed some cottage time with extended family. She had a good end to the school year and really enjoyed being able to dress up and celebrate prom with friends. 

We're very excited to now being enjoying the use of a big and beautiful shaded accessible front porch! Thanks to an anonymous private donor, we did not need to use Easter Seals funding and were able to design it to our liking. We've already spent much more time outside with Abby due to the convenience of easy movement.
Abby trying out the new ramp!

In April, Abby was featured in the Krembil Research Institute magazine which went out to some districts in the Globe and Mail. The feature was about Rett syndrome research in the Eubanks lab in Toronto. This week, I took Abby to visit the lab and she was very excited, as always. I asked her to think about questions she'd like to ask when we were there and she did not let me down:

see. Dr Eubanks. research.
like. go. What's new?
why? why? Rett syndrome.
What's new? How are you?
like. do. see. lab.
(punctuation donates separate button selections by eye gaze)

There is still much hopefully news in the research world. Most notably, scientists are beginning to understand more and more about how the MeCP2 protein is supposed to function. (A MECP2 gene mutation causes Rett syndrome.) The research grants awarded by the Ontario Rett Syndrome Association (thanks to fund-raising dollars) have resulted in valuable information to further learning. This year's research grant is being awarded to Dr. David Grynspan in Ottawa for his work on studying treatment for GI dysfunction in Rett syndrome.

We appreciate your continued support for Team Abby and the Ontario Rett Syndrome Association! Hopefully, we'll see some of you on September 17th. 

Sunday, December 18, 2016

Abby Update

Abby had a pretty good autumn up until about mid November. She's been enjoying school, especially her Art and Native Studies classes. She enjoyed getting back into horse riding therapy.

She picked up her new wheelchair with the big removable Free Wheel for off-road outings. We completed the extensive paperwork to get some Easter Seals funding for an accessible ramp to our front door, but Easter Seals ran out of funds, so we will re-apply in 2017.

Abby is still walking, but her strength comes and goes depending on how her nervous system is functioning. She's been going through trials of various medications to attempt to treat her dysautonomia which comes and goes as well.

During November and December, Abby went through a few weeks of the most severe symptoms of dysautonomia ever. She was feeling stressed, panicked or in pain 24/7 and not sleeping much at all, pulling several all-nighters in a row, and unable to go to school. When her autonomic nervous system stops working, it affects her heart rate and blood pressure and her entire digestive and urinary systems, among other things. 

She recently started a blood pressure medication (a selective alpha receptor agonist) and it seems to be really helping to regulate her heart rate and blood pressure. Time will tell if it consistently helps other symptoms. Abby is now sleeping more than usual. It's a better problem to have, but we're hoping once she adjusts to the medication, she can be awake and feeling well for more of her day.

Abby recently got casted for two custom elbow splints (arm braces). You may see her in photos with the generic denim ones, but they are no longer strong enough to be very useful. The splints are meant to interrupt the out-of-control hand-to-mouth instinct that can sometimes cause harm. The more stressed Abby is, the stronger and more forceful her arm movements become. She has trouble controlling her own strength and she will ask for her arm braces to help her relax. On days like that, she can focus more on other things when her arms are under control.

It's been a busy autumn with the Ontario Rett Syndrome Association. We're excited that O.R.S.A. was able to release $100,000 for research in 2017. The scientific advisory committee is currently calling out for proposals from scientists. In a year of very scarce government funding, it's good to know our donors can help to keep some promising research in Rett syndrome going in Canada.

Today, Abby brought up the topic of research, putting words together on her eye-gaze speech-generating device:

"mouse. mouse. who. has. what.
what. we. mouse.
what. mouse. no. mouse.
what. we. Rett syndrome.
yes. like."

Please consider the Ontario Rett Syndrome Association if you are still making year-end charitable donations this year. The Hope Fund is designated specifically for Rett syndrome research in Canada.