Rett syndrome is a neurological disorder caused by a faulty gene that affects mainly girls. Our daughter Amy was diagnosed with it in June 2009, shortly before her second birthday. She also has congenital heart disease. This blog reflects my family's experience of Rett and my own reactions to it.

Thursday, 28 February 2013

Nothing by halves

It's true. Amy does nothing by halves. She's born with a hole in her heart: it has to be a big complicated one, affecting all four chambers and sending her into heart failure within a few days of birth. Her development is abnormal, then delayed, then completely messed up: it turns out to be Rett syndrome. She has Rett syndrome, which doesn't affect all children the same way: but she is affected by just about every possible thing. She starts having obvious seizures at the age of five, the age many girls with Rett start having them: and now it turns out she has epileptic encephalopathy, a rare and severe form of epilepsy that damages the brain's ability to function.

We've known this for a week, but I've found it hard to talk about coherently. Something broke last week: the machinery that helps me process bad news efficiently and deal with whatever needs to be dealt with developed a temporary fault. I read the EEG report, and something went wrong with the rational response mechanism. EEG reports are written in a language I don't (yet) understand - but I understood the conclusion. Then I googled epileptic encephalopathy (EE). Then I freaked out.

I've stopped freaking out now. We saw a neurologist this morning who specialises in treating children with epilepsy, and she confirmed that what Amy has is electrical status epilepticus of sleep (just a small mouthful, then - ESES for short), which is a type of EE. It means that she is having continuous seizures while she sleeps (continuous spikes and waves mainly in the frontal region of the brain) - and quite a few while she's awake, although only some of these are apparent to anyone watching her.

And I think: how did we get here so fast? How did we get from no seizures (we thought) to constant seizures in the space of a month? I always used to wonder if I'd know an episode was a seizure, and not something else. When it started happening, we were pretty sure we were calling it right. But it never occurred to me that seizures could happen without anyone being aware that anything was going on. I didn't realise it could be invisible. That's why the statement in the EEG report about constant sleep-seizures came as such a shock. I kept thinking: how did I miss this? Was I not paying enough attention? Has Amy been silently suffering?

I'm now reassured that we didn't miss anything that could have been spotted. But it still feels utterly weird, to know that when Amy looks like she's sleeping peacefully, all this chaos is going on in her sweet head. It's a horrible idea. Because we now know that all this electrical activity is impairing her brain function. And that's why we have to treat it. While the standard epilepsy advice is to 'treat the patient not the EEG' - in other words, not worry too much about what the EEG shows, as long as your child appears to be well - it's not quite so simple with epileptic encephalopathies. The EEG is the main clue we have that all is not well - not least because all the challenges that Rett creates for Amy means that we can't spot obvious regressions in language or cognition.

Yes: regression. That word comes up. Children with ESES who don't start from quite the same place as Amy usually lose language skills, or appear to understand less than they previously did. Amy doesn't have language - and we have no certain way of knowing how much she understands. (Although we have some clues.) So we don't know how much, if anything, she may have lost. But - and here's the really important bit - we can't treat her any differently to any other child who's diagnosed with this condition.

The neurologist agrees. The aim, in her words, is to find "one drug, with no side-effects, and no seizures". That may not be straightforward. One of the things I picked up from other parents when seizures were still only theoretical was that anti-epilepsy drugs come with all sorts of side-effects, which sometimes outweigh the benefits. Today we started giving Amy sodium valproate (Epilim), and she'll be reviewed in a few weeks - to see how she is, and what her EEG looks like.

It's all a lot to take in. I went into today's appointment with a long list of questions and a big pile of print-outs from various websites (doctors love parents like me): it's always better to know than to half-know. I spend a lot of time telling people that Amy understands, that her disabilities are physical not cognitive. I really hope that's still the case.


  1. I believe that Amy is aware. I also believe that she feels the love you all have for her. It's that love that has helped her with all that she's going through. Dad

  2. Hi Catriona I'd never heard of this type of epilepsy before and you're right, it's a shock that this has been happening while she's asleep. Epilepsy is the one aspect of Rett syndrome that (I find) is truly frightening and seems to be a world of unknowns. I'm thinking of you and hoping you all start to feel ok with what is going on. You are so brave to share it with us all. Thank you x Emma

    1. Thanks Emma. I find it the scariest aspect of Rett syndrome too. But it feels better to have met with an excellent doctor and to have a plan. It is what it is - we will adjust, as all of us who live with Rett syndrome do. xx