Tuesday, December 23, 2014

Comfort and Joy

My favourite thing about Team Abby is the feeling of being wrapped in the support of family and friends, especially when challenges come our way. 

This year, Rob asked a quilter friend to see if she could make a quilt out of all the Team Abby shirts from over the years. Gail (a.k.a. Cozy Quilter) took on the task with enthusiasm and the result is wonderful! Now Abby can be wrapped in support and feel the comfort of everyone who's ever been a part of Team Abby. 

And, truthfully, this quilt has provided comfort to each of us in our family.

In some ways, it's been a rough year for Abby. She's struggled with terrible symptoms of nervous system dysfunction, causing her to feel miserable for weeks at a time. But in recent months, this problem has all but disappeared. Touch wood because we aren't sure why. I'm hoping it's because of the recent addition of the medication called Buspirone, but it could be totally random and she could take a plunge into misery again. The comfort comes from knowing we've connected with some psycho-pharmaceutical experts who are willing to work with Abby's doctors at the Rett Syndrome Clinic. I choose to believe we will find a way to keep Abby feeling like herself.

Abby has now undergone two surgeries on her leg this year. Her osteotomy revision surgery happened on December 16th and recovery is going very well. Abby seems to be pain-free already and she is sleeping well at night and smiling during the day. We saw the surgeon for follow-up today and he is very hopeful that her ankle will stay straight enough to walk well again.
This fall at school has been great for Abby! For the first time, she's been included in regular classes and discovered new friends and knowledge in Science and Drama. I was proud to see her first performance using her Tobii eye-gaze system to speak her lines. Two of Abby's school friends came over to visit her yesterday and you could hear them laughing together in Abby's room and talking together with Abby using her Tobii.

We've discovered endless possibilities with the eye-gaze technology in our home and at school. We are only limited by the time it takes to implement new ideas and features. I'm so happy to see more and more families starting to gain access to this technology. Thanks to a generous donation by the Edwards Charitable Foundation, the Ontario Rett Syndrome Association was able to facilitate the Rett Syndrome Communication Workshops in November. Dozens of parents, caregivers, clinicians and educators were inspired by the potential to use this new technology to help our girls and women to speak, write, and communicate! 

So when we count our blessings, they are bountiful! And we have every reason to feel joy about Abby's future. And we are forever grateful for the comfort of friends and family. 

Monday, December 8, 2014

Bones and Strength

The orthopedic clinic at a children's hospital is the one place you'll always find the peculiar mix of us and them. "Them" being neurotypical children and their families with limited experience in specialists' waiting rooms. "Us" being the experienced kids and parents for whom the hospital waiting rooms have become a mundane part of life.

Kids get injured and sometimes break bones, so orthopedics can be a part of a regular kid's life. Not so for EEGs, EKGs, barium swallow tests, bone density tests, abdominal ultrasounds, or augmentative communication services. Most other specialists' waiting rooms are not so inclusive of the general population.

Chances are, in orthopedics, you will get to see at least one parent pitch a fit about how long he/she has to wait. At the very least, you'll see them muttering or pacing or complaining quite loudly to their children, for everyone else to hear. I don't blame them. That was me, the first time we had an appointment with an orthopedic surgeon. Our appointment was at 9:00 a.m., so I figured we'd get in right away. I can't remember if we waited 2 or 3 hours, but I do remember making friends with everyone in the waiting room, while 6-year old Abby ran around and flashed her goobery smile at them and grabbed at their snacks. I was the one talking very loudly to Abby about how I didn't know we'd have to wait this long; otherwise, I would have brought more snacks along.

A few days ago, on our most recent visit, having built up years of resilience to waiting, we arrived at the orthopedic clinic with ample snacks, movies, pillows, blankets, drugs, arm braces, headphones and patience. For the first time ever, we ran into someone we knew, a friend from Abby's school, also waiting. We waited for two and a half hours, but I didn't get to see anyone pitch a fit until the final half hour of our wait. A father and his son were missing lunch and he was able to find out there were still six people ahead of them, waiting. Determined to fix the whole system, he explained his ideas - not so tactfully - to the receptionist.

Eventually, we found ourselves in one of the inner clinic rooms as we could hear the resident and surgeon making their way down the hall, from patient to patient. In the room before us, I heard the girl about Abby's age, asking about her hockey season, then refusing to accept that she might not be able to play in the finals.

When the resident came to our room, I tried to summarize our post-surgical problems with Abby's leg. The physiotherapist thinks we need to take more wedging out of the AFO (ankle-foot orthodic). The orthotist thinks we need to look at the problem with the knee. Abby is not walking confidentally with the brace on; she won't put her foot flat on the floor. Without the brace, she doesn't even want to put weight on her foot. We were all expecting her to be walking independently by now.

The surgery on September 2nd was a tibia fibula derotation, which involves cutting the two shin bones and straightening the leg. A look at this week's x-ray shows that one of the bones has slipped out of place. As the surgeon said, her leg looks straight, but it's not very functional. Abby's ankle leans too far inward and the combination of that pressure and Abby's low bone density may have caused the new problem.

Before I could even process the x-ray information, the surgeon was there, talking about possible surgical procedures to fix the ankle (a new, stronger plate) and the broken bone (bone graft from the hip). Ortho docs always seem so confident about things that seem kinda complicated to me. Which is refreshing, when you're used to docs being puzzled by Rett syndrome and not always having any suggestions for solving problems.

And Abby was smiling while we talked about fixing her leg and walking. She seems very relieved that we finally understand her discomfort. 

So, the doctor turns to me and says, "What do you think? It's up to you." Inside my head, I am still freaking out a bit because I really had not prepared myself for the possibility of more surgery. But I find the strength to say what needs to be said: "Abby's a walker. You need to keep her walking. Let's do it."

So we await the date for the next surgery.

(On another note, for another day, Abby's had a solid two months of contentment, with none of the crazy nervous-system symptoms that plagued her for most of the spring and summer. We've tweaked her meds for this and hope for continued sleep and sanity.)

Saturday, October 11, 2014

Thanksgiving 2014

It's Thanksgiving weekend in Canada and we have an abundance of reasons to give thanks. I'm thankful to be able to see our extended families often and enjoy their love and support. I'm thankful to live in a safe and free and peaceful country with publicly-funded health care and excellent doctors, nurses, and clinicians. I'm thankful to live in a place where free education is available for all kids, regardless of gender or ability. I'm thankful for books and knowing how to read and learn. I'm thankful for technology and the engineers who designed and continue to improve eye-gaze technology. I'm thankful for my husband and kids, the sunshine and the harvest. I'm thankful for sleep.

The past six months have been difficult for Abby, with crazy-nervous-system symptoms and accompanying medical problems. Her orthopaedic surgery went well, but recovery was really rough. Things are looking up, though. She has been feeling much more like herself lately and she is walking around on her own. Her cast (hopefully) will come off soon! We are seeing smiles every day. And Abby's learning to do more with her eye-gaze device to communicate and show us what she can learn.

Heartfelt thanks to those of you who have once again given generously to support this year’s Run4Rett! Your donations make a difference in Abby's life and directly help others with Rett syndrome, too.

It was 10 years ago that my sister, Judy started the first Run4Rett in Milton. Great strides have been made since then, much of it due to funds raised by people like you. Your donations fund conferences, clinics, research and education for families and clinicians. This year, O.R.S.A. established a nation-wide patient registry so our girls can soon be part of clinical trials for treatments for Rett syndrome. Next month, I'll go to the Rett Syndrome Communication Workshops, thanks to a large donation from the Edwards Charitable Foundation, given to help more people access and learn to use communication technology. We continue to make use of your fund-raising dollars to access the Rett Syndrome Clinic in London, ON. This has been a big help as we have worked to figure out many of Abby's recent medical challenges. Every dollar makes a difference!

I'm thankful for Team Abby! Happy Thanksgiving!

Saturday, August 16, 2014

10th Annual Run4Rett

This year, we'll be celebrating 10 years of support for Team Abby and the Ontario Rett Syndrome Association! The 10th Annual Run4Rett is scheduled for Sunday, September 21st, 2014.

Here are the quick links:

Abby Update:

During the past several months, Abby has had several very bad days. She's also had a lot of very good days. We're still trying to figure out how to prevent the nervous system problems which can cause her a lot of pain and anxiety. Hopefully, her good days will start to prevail.

Abby continues to amaze us with her Tobii eye-gaze system. When she is unwell, she can tell us more specifically what's wrong. When she is feeling well, she is keen to learn more and present her research, tell us what she wants to do or what she thinks, entertain us with her music videos or tell us some jokes. She is also participating in a new research study on communication using eye-gaze technology. 

On September 2nd, Abby will be having orthopaedic surgery on her leg. It is similar to a surgery she had six years ago. The surgeon will be straightening her leg, just above her right foot. This will help her to continue to walk well. Lately, walking's been tough and Abby has become nervous about it. So, this year, Abby won't be running around the 1km route, but she'll be happy to have you come sign her cast! 

We are grateful to all those who donate or come out to participate in the Run4Rett! If you've never made the trip to Richmond Hill, please consider joining us! Team Abby has grown over the years to include friends of friends of friends and family. Thanks for helping to raise awareness and funds! Thanks for being a visible crowd of support for Abby and all the other girls and women with Rett syndrome.

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.