Every family that’s been touched by Rett Syndrome knows this story. It is part of the particular cruelty of Rett. R was born perfect. R could return a smile by 3 weeks. The Health Visitor said R was going to be very clever.
Being born perfect turned out to be part of the problem. When I started to worry that R’s language wasn’t developing in quite the same way as F and EB, I was a Neurotic Middle-class Mum. “Look at her; look at those bright eyes. Not a lot wrong there.” But I wasn’t neurotic with F and EB, so why should I start with R? Not as able as the other two, perhaps. Neurotic Middle-class Mum was concerned that R might not shine at school like her brother and sister.
And then one day she stopped talking. It was autism then. Or a “social communication disorder”, the educational psychologist euphemistically called it. There was, however, no chance of a specialist nursery placement, she told me. I had to understand that we weren’t a “vulnerable family”.
The neurologist, in Germany, disagreed. After an MRI and EEGs, he suggested that she had Landau-Kleffner Syndrome. This was good news. This was potentially treatable.
The neurologist back home disagreed. After more EEGs, we were given an audience with an eminent Professor, visiting from another hospital. By this time, R’s behaviour had become eccentric; her motor skills were deteriorating. As R rolled chaotically on the floor in her nappy, the eminent Professor told us that R was severely learning disabled, was unlikely to ever have a diagnosis and that so long as we didn’t put her in a corner and completely ignore her, there was nothing we could do for her.
But G and I suspected Rett Syndrome. We diagnosed her with Google. Rett Syndrome was confirmed by genetic testing but only after months of persistent requests. The educational psychologist told me, gently, that I had to understand that R needed a specialist nursery placement. She was, after all, severely disabled