October is Rett Syndrome Awareness Month

Two little words: Rett syndrome. We had never heard them before our daughter began to show its signs. We could never have dreamed how much those two small words, those three syllables, would call for us to adapt our lives and our thinking.

Lavender Rett syndrome awareness ribbon

Shortly after her first birthday, when our daughter A began to lose her speech, her hand use switched from functional to repetitive movements, and she started to avoid eye contact, I began to wonder if she was dealing with autism. After all, it was the one disorder I knew of through my special education training that often didn't show up until toddlerhood. My husband started researching autism on the Internet and saw the words "Rett syndrome" for the first time. It was described as a variation of autism with devastating physical deterioration. This was something neither of us could imagine for our healthy  little girl. Why, she'd never even had a cold or ear infection! We joked that there was one good feature of Rett syndrome--the girls with it did regain their previous social natures. That part sounded good but we dismissed it as a possibility.

But during A's first diagnostic evaluation at the local Children's Hospital about five months later, we overheard a resident doctor mention to his supervisor that he believed Rett syndrome should be considered. The older doctor dismissed the suggestion but the resident had hit a chord that immediately rang true with us. By that time, we had observed enough physical change to imagine how Rett syndrome could fit. Within 3 months, the experienced neurodevelopmental pediatrician came to agree that this looked like the most likely diagnosis. A few years later a genetic screen was developed for Rett syndrome and our daughter tested positive.

We were most fortunate to receive a diagnosis so quickly. Many families go months, years, a lifetime without a name for their child's disorder. The onset signs of Rett syndrome are terrifying and leave parents fearing for the future; without the reassurance that the losses will slow at some point, I can only imagine the terror these families face each day. Having a diagnosis also connects you with other families traveling the same road. When a child is born with an unexpected disability, the family can be shocked off the path they had anticipated and sent reeling in a totally new direction. The comfort of having comrades along this new route is indescribable. Equally comforting is the knowledge that researchers are working tirelessly towards finding a cure for a disorder which affects your child; without a rack on which to hang your child's diagnosis, you don't have the reassurance that someone, somewhere is working to make things better. You are also given a place to fit in and help.

October is a month to let folks know about Rett syndrome. It's a time for answers for a few families. It's a time for doctors to catch up on the latest developments in medical research into the disorder. It's a time for raising dollars to fund that research. And if you someone with Rett syndrome, it's a time for honoring their spirit of determination and courage.

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What is Rett Syndrome?