Thursday, August 12, 2010
Four years ago, in the summer of 2006, I helped to compile an index for a book. The potential audience was small, but every single page reminded me of the book's purpose and necessity. It was a handbook for parents of children diagnosed with Rett Syndrome.
Rett Syndrome is a devastating neurological disorder triggered by a genetic mutation. The first subtle symptoms appear, usually between 6 and 18 months, and are often mistaken for ordinary developmental variation. Within a few months to a year, the disease progresses to what is called the rapidly destructive phase. Motor control fails. The ability to pick up objects is lost and replaced with involuntary, repetitive hand motions. Language acquisition stops. Even breathing is complicated.
There is no cure. There have been promising studies using mice. A gene rendered inactive can be reactivated--and Rett-like symptoms vanish. Injections of an insulin-like growth factor have also led to improvement in function in mice. Science makes incremental progress, especially in a culture where economics is the trump card.
Before I read the handbook, created by parents to help other parents, I knew nothing about Rett Syndrome. I still know very little. But there was one thing that I recognized immediately: Absolute, unrelenting love.
That's what we have right now. Love and some promising science. Love is priceless, but scientific research costs money. I'm not asking you to send donations--although you should if you can--I'm wishing for a world where medical research and health care didn't need to be funded by bake sales. I'm wishing for a world with different priorities.
Every child is an individual. Every family does their best: Here's a video made by one family
These people are fighting the good fight. International Rett Syndrome Foundation
This site will explain things much more clearly than I can. Rett Syndrome Fact Sheet from the National Institute of Neurological Disorders and Stroke