I’m one week into a fundraising challenge. I’ve signed up to do a 5k every day for 50 days. The money raised will go to Reverse Rett, a UK based charity that aims to fund research into treatments for Rett Syndrome.
I don’t believe that this is pointless (unlike the speech therapist who gave me the “sympathetic eyes” when I talked about treatments for Rett at a meeting last week). There is actually very good reason to believe that given enough time (and money) a cure will be found for Rett Syndrome. Meantime, treatments aimed at lessening the symptoms are already being trialled.
One of the drugs being trialled is ketamine*. You may know ketamine either as a horse-tranquilizer or a drug of abuse but it’s also – occasionally – used in human medicine, mainly as general anaesthetic. Very, very occasionally, it is used as an emergency medicine to stop seizures. There is some anecdotal evidence that girls with Rett syndrome can show a mild reduction in their symptoms for a couple of days after having ketamine as a general anaesthetic. There is also evidence that mice with Rett syndrome in the lab benefit from treatment with ketamine. The scientists speculate that ketamine triggers changes in the brain in Rett Syndrome. These changes may persist even when the drug is withdrawn.
R’s seizures started to increase again after New Year. About six weeks ago she was admitted to hospital again. We had run out of options at home; the on-call neurologist admitted that he was starting to run out of options too. The difficulty is that too many of the first-line medicines that can be used to stop seizures also stop R breathing.
R’s neurology team tried ketamine (they were aware of the trial in girls with Rett). She was started on a very, very low-dose of the drug for five days. Day 1, she slept. After that sleepy first day, R was much more alert and the seizures reduced. On day 6, following the withdrawal of the drug, she had several more seizures. Then she woke up.
I’ve written before about “awakenings” with new drugs. This was similar. R became hyper-alert and hyper-sensitive (to noise and to light) on the ward. Then her hands started to free up. She started walking with her hands swinging from her sides (when normally they are always clasped together). She said “bye-bye” (I cried) and then waved when I related this to the doctor (everybody cried). She started to nod (occasionally) and shake her head (more frequently) for yes and no (she hasn’t been able to do this since she was tiny.) Unlike the other “awakenings”, however, after more than a month, R is still doing well. It’s not a cure. People who don’t know R may not even see the difference but to us it feels like a small miracle.
Was it the ketamine? Possibly. Its possible that the ketamine has reduced the hyper-excitability of the neural cells in her brain, leading to a reduction in seizures, which in turn has improved R’s brain function. Perhaps the ketamine has lead to persistent changes in R’s brain and the reduction in seizures is a side-effect of these changes. Perhaps it’s only a coincidence. Would further treatment lead to further improvements? Who knows?
Good quality research studies are needed to answer questions like these. Research needs money. Reverse Rett are helping to fund clinical trials into drugs like ketamine.
So here I am running 50 5Ks for R and all the girls and women with Rett Syndrome. All donations gratefully received:
*A drug like ketamine has significant advantages over many novel therapies. It’s an old drug, which means it is cheap and it has already been cleared for use in humans (although R’s treatment was off-label). Because it is a drug of abuse, doctors also have a very good idea of the safety of the drug and it’s unwanted side affects have been well documented.