We are going to take a break tonite from our coverage of the Pugistan team in Vancouver to talk about a very special person: #1. Our human sister, Elaina, who struggles with Rett Syndrome. She will be 13 in a few weeks. On February 24, msnbc.com and a host of others have collaborated to raise funds to help find treatments and a cure for this rare disorder. We hope that you will visit the International Rett Syndrome Foundation website at www.rettsyndrome.org to learn more about Rett, and if you can, make a donation.
#1 is very special to us. She may not say much, in fact nothing at all, but we’ve got a thing going. Since we don’t have opposable thumbs, it’s pretty hard for us to use our paws too – we kind know how she feels! She lets everyone think that she can’t get a good grip on her foodables, but we know better! She is actually inconspicuously dropping treats for us. Oh yes, you can tell by the sly look on her face……
So, Mom………take it away!
When I explain that my daughter has Rett Syndrome, that (Tourette's??) is one of the most common things I hear. I’ve had to explain so many times, it’s hard not to make a joke of it. And really. What’s funnier than differentiating between two life changing neurological syndromes? Obviously you don’t know how to have fun!
Until I scoured the internet to try to find information about my daughter’s developmental delays, I’d never heard of Rett Syndrome. But mother’s ALWAYS know, and once I read the description I knew. (it just took our doctors over a year to agree.) My daughter’s failure to learn to walk, her loss of hand and language skills could not be denied. Our doctors tried. Oh, they tried very hard. “Whatever she has, it’s not serious.”
But eventually, her development lagged so far behind it could no longer be ignored. Adding to our pain was the year of trying to figure out what was wrong with our baby. Many, many terrible disorders were ruled out through painful and complicated tests. A decade later, the remembered pain feels fresh. And still, there was no answer. Which meant, it COULD be Rett.
Most days, we try to celebrate all the small gains my daughter makes. The first day she walked into the school building under her own power, backpack and all! [At age 11.] Recognizing friends, classmates and family by flashing a mega-watt smile. Snatching a cookie from someone by using her uncooperative hands. (Watch out! Chocolate significantly improves her fine motor skills.) Grabbing a baby bottle out of the kitchen sink because she’s thirsty. Feeding herself, or drinking from a straw with minimal assist.
We ignore all that she should be: staying up late, dancing with her friends, talking on the phone too much, playing too many video games. Instead of soccer practice, she has physical and speech therapy.
My dream is that no one will hear about Rett Syndrome in the future, not because of ignorance, but because it no longer exists.
While we cherish her, watching her struggle to communicate and manage even the most basic functions is heartbreaking. So today, I am asking that you take a minute to learn more about Rett Syndrome, and if you can make a small (or big) donation so that we can continue the fight make this devastating disorder a thing of the past.
Just ten years ago, we did not know the cause of Rett Syndrome. Although it was strongly suspected to be genetic, the defect was elusive to researchers. In 1999, some thirty years after the syndrome was described by a neurologist in Austria, a lab funded in part by grants made from a parent support group (IRSA) discovered the gene responsible for Rett Syndrome. Most recently, symptoms of Rett Syndrome in a mouse model were reversed by researchers. Yeah...reversed!!
We’ve come a long way in those ten years. Girls can now be diagnosed correctly in months, rather than years. Therapy can begin much sooner to prevent the loss of skills and improve communication strategies. Pediatricians are now at the forefront of suggesting developmental evaluation, rather than discouraging it when parents raise concerns. More doctors, teachers and therapist are aware of the disorder, eliminating the need for parents to explain it again and again. But there is so much more to do!
So I speak for girls who cannot speak for themselves. Please learn more about this disorder. And, if you can, be a part of the cure in what ever way you can.