What is Rett Syndrome?

"We were forced to become expert in something that we never knew about, never wanted to know about, and something we will never fully understand. We learned a great deal about genetics very quickly, and each day we dug deeper into Zoe’s cellular mysteries. Rett syndrome is a disorder affecting the brain; it prevents the brains of girls like Zoe from telling their bodies what to do and when to do it, a symptom called apraxia.

The condition is the most physically disabling of all disorders on the autism spectrum. Quite simply, they know what they want to do, be it playing, running, singing, whatever they see kids doing in school, stores, or the neighbors’ yards. Their bodies won’t let them.

This is a result of a random mutation on the MECP2 gene, the Rett syndrome gene. Each cell in a normal female body silences one of its two X chromosomes. Girls with Rett have a healthy MECP2 gene on one of their X chromosomes and a mutated, stubborn version of the gene on their other X chromosome. The variances in girls’ symptoms are a result of the random nature in which the chromosomes are silenced; there is no way to predict which X chromosome, healthy or unhealthy, the body will elect to silence.

One of the hallmark symptoms of Rett is drastic regression in motor skills and abilities. We were lucky to a degree. Unlike many families, we didn’t have to watch Zoe develop on schedule, walking and talking like her sister and other kids, only to have her lose those skills around the age of two. That scenario is sadly far more common.

The affected neurons, don’t die, unlike in other neuro-degenerative disorders, like Parkinson’s. They can be reactivated; in fact, a scientist named Adrian Bird was able to do this in mice. He was able to temporarily disable one of the genes in them, and in that state, they exhibited all the symptoms as a typical girl with Rett. When the gene was reactivated, over the period of weeks, the mice returned to their normal physical state. It is possible to extend that treatment to these girls."

The preceding quote is an excerpt from an essay I wrote about our experiences with our daughter Zoe and adapting our lives to her neurological condition, Rett Syndrome. The entire essay will be available in the Kindle Store in February 2013. Proceeds will be donated to research for a cure for Rett Syndrome.