Monday, December 31, 2012

Perpetual Puzzles

There is nothing logical about having a child with Rett syndrome. Most days present you with random, intractable puzzles. I'm so exhausted from Rett puzzles.

In other parts of my life I can work on fixing problems and feel like I've been helpful. I like puzzles.  I just got a 1000-piece jigsaw puzzle for Christmas and I can't wait to tackle it.  It will be challenging and it will take me a long time to complete, but I have confidence it can be done.  Sometimes, Rett syndrome leaves me with a complete lack of confidence.

Our latest Rett puzzle involves Abby's digestive system. Much of this fall has involved too many episodes of pain, often after eating. Through a series of tests and medication trials, we've narrowed it down to her stomach.  Abby had an upper GI scope done in November, revealing nodular gastritis, but biopsy results showed no infection. The test did confirm what we already knew:  Her stomach muscles don't move when they are supposed to.  Her digestive system gets stuck.  It's a Rett thing.  The Rett mutation interferes with proper functioning of the autonomic nervous system, among other things.

Abby's parasympathetic nervous system goes on strike often.  She spent Christmas Day and Boxing Day in agony. Her communication-by-eye-gaze can be amazingly accurate and there is no mistaking her pleas for help while she's wailing away in pain. I can't fully process that emotion of feeling utterly helpless and unable to console my child. 
Even though I'd like to give up all these Rett puzzles, we work away at them, together with the help of medical professionals and other Rett families.  We finally took Abby to the ER where she was given an enema and tested for gall stones.  The gastric cleansing seemed to jump-start her GI muscles and everything began to move normally again (for now...). We have a happy teenager this week.  We have a follow-up appointment with the paediatric gastroenterologist in January.  We'll continue to work the problem for this and all the symptoms that come our way.

Wednesday, October 24, 2012

Thanks again and again...

It was another great day at the 2012 Run4Rett on October 13th!  Thanks to each any every one of you who came out to participate as part of Team Abby!  Special mention goes to Abby's brother, Ben, who was the overall winner of the 5 km race with a personal best time!

It was a cold, but sunny day and the rain held off until things were winding down.  Abby was thrilled to see all the people wearing her shirts and loved all the attention paid to her!  It is her favourite day of the year, by far. She finished the entire 1 km with the support of her grandpa and dad.  She fell asleep that night with a smile on her face.

Although the moral support for Abby and the other girls is the most exciting part of the Run4Rett, we also greatly appreciate all the financial support for the Ontario Rett Syndrome Association!  For many people, it is tough to find sponsors year after year.  Abby is blessed with an amazingly supportive network of family and friends who plead for pledges year after year on her behalf.  This is much appreciated!

Rett syndrome is a life-long condition which affects the entire family.  In addition to the daily need to accommodate for disabilities, we need to be constantly on alert for new medical complications.  I am proud to say O.R.S.A. supports families in many ways while still supporting research to find an end to Rett syndrome.  We're excited about the new Canadian Rett Syndrome Registry which will allow Abby to be part of clinical trials for treatments in the near future, thanks to our donors.

Thank you again and again for your support along the way!

Thursday, September 27, 2012

Let's Get Ready

It's rallying time for Team Abby and our supporters!
The Run4Rett is happening on Saturday, October 13th, 2012! 

Important Links:
You can also register on event day.  Just get there early to avoid the line-up.  The 1km walk/run is first and starts at 11:00 a.m.

Please make cheques payable to the "Ontario Rett Syndrome Association."  Tax receipts are issued for an online donation of $20 or more.  For cheque donations, it's $10 or more (because it doesn't go through Running Room.)

Our Team Abby shirts were just ordered!  This year's design is by Julia, Abby's 17-year old cousin. Thank you, Julia!  The shirts are blue with a white imprint.  Get yours on race day at the Team Abby table!

For anyone who would like to volunteer that day, please email me at so I can send your names in to the organizers.

We are grateful for all the work you do to collect donations to the Ontario Rett Syndrome Association.  We support this organization because we know the direct impact is has on Abby and many others with Rett syndrome in Canada.  O.R.S.A. relies on donations and membership for its entire budget.  There is no paid staff.  The bulk of the funding goes to research, conferences, medical clinics, and educational events and information for families and medical professionals.  This year, we'll see the start of the Canadian Rett Syndrome Registry, fully funded by O.R.S.A.  It is essential to establish this registry before clinical trials for treatment can start in Canada.

For those who can't come on October 13th, we still appreciate your support.  Donations can be mailed in or done online any time. Thank you!

Monday, September 3, 2012

Who Cares About Rett Syndrome?

I am always trying to find ways to raise awareness about Rett syndrome.  I sometimes forget that most people don't live every day with a child with Rett syndrome and they have other things to care about.

I was telling Abby's younger sister about this and she said, "Mom, who really cares about Rett syndrome if they don't have someone like Abby?"  She has a good point.  So, here's my attempt to think outside of our living-with-Rett-syndrome box and tell you why you should care.

10 Reasons To Care About Rett Syndrome

1. My girl
You would just need one hour to spend with Abby when she is her usual, smiling self and you would see (because most of her communication is visual) that she's not so different from you and me.

Then, you would need one hour with Abby when her heart is racing out of control or she is having intense pain from reduced digestive motility (or any one of the myriad of symptoms associated with Rett syndrome) and you would want to find a way to help end the misery.

2. All the girls and families

There are hundreds of people with Rett syndrome around the world.  Not everyone has the support of such a big family or so many friends.  Not everyone even has a correct diagnosis. Not everyone has the health care system we have.  Many of them are friends we've come to know.  Many of these girls and women are far worse off than Abby is.

One of my good friends is a single mom with an 11-year old child with Rett syndrome.  This girl has spent much of the past year in a critical care unit at the Children's Hospital of Western Ontario.  Both mother and daughter are troopers.  My friend can think of something positive to say while her daughter's lungs have just collapsed again and she is on life support for the umpteenth time this year. But she doesn't want to be a trooper.  She wants you to care about Rett syndrome.

Another mom recently described Rett syndrome as "truly a 24/7, alert-mode syndrome."  We talk of "families with Rett syndrome" because of the way it causes stress and anxiety for parents and siblings, as well as the individual with Rett syndrome.

3. Cost for healthcare
Someone with more time can do the math.  Below is a list of the medical specialists Abby has seen in the past year. She has not been hospitalized, unlike some of the others we know.  This doesn't include the cost of health care for family members who are treated for depression, anxiety, and physical symptoms due to increased stress.
  • family doctor
  • paediatrician
  • developmental paediatrician
  • geneticist
  • gastroenterologist
  • neurologist
  • cardiologist
  • orthopedic surgeon
  • endocrinologist
  • orthotist
  • occupational therapist 
  • physiotherapist
  • speech language pathologist
  • clinic nurse coordinator
  • social worker

4. Cost for education
Abby is in a special education class.  Others have more integrated education plans.  Regardless of school placement, the cost of educating someone with Rett syndrome is much higher than your average student.  Each of our girls needs at least one full-time educational assistant, along with an extensive amount of specialized equipment, and specialized busing. The costs to our government are high, which always results in the ridiculous need for families to fight for funding from a decreasing pot of money.

5. Cost for respite and social services
In order to support families to keep our kids at home, our government provides respite funding for caregivers.  Abby also has personal support workers.  Many other families have nursing care in the home.  This funding comes in various forms and it's complicated and always changing.  Currently, there are huge wait lists and further funding cuts on the way, causing increased stress on families, especially those caring for adult daughters.

6. Advancing scientific knowledge
I try to follow Rett syndrome research to decide whether it's okay to hope for a treatment or cure.  Although Abby's tiny mutation has drastic affects on her health and abilities, research shows that symptoms are reversible in the mouse model and the neurological effects are not permanent.  They haven't figured out exactly what works, but a lot of progress has been made in recent years.  Because of the complexity of the Rett syndrome gene(s), there is a lot of scientific interest in figuring out how it works.  Scientists are full of ideas for moving forward; they are only hindered by lack of funding.  To gain more funding, the public needs to care. 

7. Gateway to answers for autism
Rett syndrome is often referred to as the most severe form of autism.  Until recently, it was classified as an autistic spectrum disorder.  What is currently known about the genetics of autism shows many overlapping concepts.  Since the gene(s) for Rett syndrome are known, it makes sense to fund Rett research as a means of finding out important clues for all those diagnosed with autism.

8. Gateway to answers for many neurological disorders
Rett syndrome is a neurological disorder.  It affects the brain and nervous system, which in turn affect many organs and systems in the body.  Learning what works to treat Rett syndrome will undoubtedly help in the understanding of other brain disorders, such as Alzheimer's, Parkinson's, ALS, Huntington's, stroke, and epilepsy, to name a few.  Research into addictions and mental health is also related to Rett syndrome research.

9. Gateway to answers for cancer
Mutations in the MeCP2 gene cause Rett syndrome in most cases. The gene is abundant in the nervous system and is found throughout the body.  It is still not well understood.  Understanding how this gene works will help in Rett syndrome research, but will also likely reveal information about many other diseases and disorders.  Some cancer researchers are studying MeCP2 to find out how it may be involved in cancer.

10. Boost to economy
If we find a treatment or cure for Rett syndrome and we reduce the need for 24/7 care for so many girls and women (and sometimes boys), not only will this decrease the burden on our government services for these individuals, but it will allow parents and other caregivers to get and keep jobs and to contribute to society as a whole.

Investing in Rett research makes sense.

To find out how to learn more, donate, or get involved, please contact

Tuesday, August 21, 2012

The Scoop

Hello, Team Abby!

Here are the details for this year's Run4Rett:
Our niece, Julia is designing Team Abby shirts this year and we are gratefully accepting sponsorships to pay for the shirts.  In exchange, your name/logo can be shown on the back of the shirts.

In the coming weeks, I will be adding several blog posts to update you on Miss Abby and the Ontario Rett Syndrome Association.  Stay tuned and save the date: October 13th!  Can't wait to see you all there!

Abby just picked up her new orthodics yesterday and she has officially begun her training to walk 1km!  Go, Abby, Go!