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


Janine said...

Beautifully said, Karen. Your points are right on the nose. As a fellow Rett Mom, I hadn't even considered the true impacts on society as a whole. Thank you for the info.

Anonymous said...

I am trying to help a friend plan a walk a thon for her almost two year old daughter that was recently diagnosed if you have any helpful suggestions please email me or look me up in fb. Please