R stopped speaking the autumn after she turned two. She was never fluent. In fact, we had formed the impression that her vocabulary wasn’t enlarging but rather new words replaced old ones. Still speaking to not speaking was not a good sign. Unable to get R’s case prioritised at home, we consulted with a neurologist in Germany who ordered an MRI scan and a sleep EEG (both under sedation). The MRI scan was normal. The EEG was not. The neurologist’s view was that R probably had Landau-Kleffner Syndrome. Landau-Kleffner Syndrome is a form of epilepsy associated with a regression of language, which produces characteristic wave forms during sleep. While Landau-Kleffner Syndrome is difficult to treat, it is potentially treatable. In Germany, the first line therapy is a drug called sulthiamine, and the doctor recommended that R be started on this drug without delay.
R’s neurologist at home was unconvinced by the diagnosis. In any case, he said, an EEG carried out under sedation is likely to show different waveforms from true sleep. While we had to admit that this sounded reasonable, we were desperate to try the treatment. He relented and agreed to a short trial of the drug. And something miraculous happened. R started to talk again. In fact, over the course of two weeks she spoke more unique words than she had ever done before. We noted them down. We recorded more than forty. She was more alert than she had been in a year. And then she stopped talking. The neurologist was doubtful that there was any benefit to R remaining on the drug and she was taken off it.
We remained convinced that the drug had helped R and sometime later, and following her diagnosis, we persuaded another doctor to prescribe the drug on a trial basis. Once again R became immediately more alert. We were in the park a couple of days later, when we walked past an ice cream van. R shouted “ice cream” excitedly from the buggy. It was the first time that she had spoken in months. Again, it was the first of a substantial number of words. And again, after a couple of weeks the words stopped and so did the treatment.
The following January, R had her first seizures. These had a profound effect on her, leading to a rapid deterioration in her skills. When she was discharged from hospital, she could no longer chew food and there was concern regarding the safety of her swallow. Given that she had tolerated the drug in the past, R was started on a course of Sulthiamine. She did well (although she didn’t talk again) and 5 years later she is still on it.
All of the above was brought to mind again over the last couple of weeks. R has been gradually weaned off Epilim and Topiramate (2 other anti-epileptics) recently. When she was down to a tiny dose of the Topirimate only (the Epilim having been stopped a couple of weeks before), she started to vocalise, with clear word like noises (not babble; more like a real attempt at speech). School commented on her alertness (and how giggly she was). It didn’t last of course, R got sick again and the noises stopped.
Back in the early 90s, I watched a film called Awakenings. The film, which starred Robin Williams and Robert De Niro, was a fictionalised account of the book of the same name by the neurologist Oliver Sacks. While working as neurologist in New York the 1960s, Sacks had experimented with what was then a new treatment for Parkinsonism – L-Dopa – on a group of patients rendered catatonic for decades by a “sleeping sickness”. The effect of the drug was miraculous but transient: L-Dopa effected a “cure” but only for a short time after which the patients became once again catatonic. In the film at least, the trial began with a single patient, Leonard (played by Robert De Niro) before being rolled out to a number of others. One of the most affecting things about this story was that this latter group had to watch as the effect of the drug diminished for Leonard in the knowledge that they too would soon be “sleeping”. I have no doubt that R is smart and that she understands what is going on. It kills me, then, that her joy in these short-lived “awakenings” from Rett must be tempered by the knowledge that they are just that. A cure can’t come soon enough.