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.

Friday, 15 May 2015

Making her mind up

We've had an important election here in the UK. (With a result that will have far-reaching consequences for children like Amy and families like mine. Public funds, already stretched, simply will not be there in future for many of the things that keep Amy well and help her participate in the world around her. The message is clear: we're on our own.)

But the election result is not what this post is about. When I went to vote last week, it crossed my mind that when Amy is 18, she will have a polling card of her own, and I wondered what this might mean for her. I'm a firm believer in everyone having the opportunity to vote and express their choice about the kind of world they want to live in - but would it be something she could ever really do?

I was transfixed, then, when I heard about Katie. Katie is 22 and has Rett syndrome, and last week she voted in the general election. This is how her mother described it:

"We had pondered for a while how she could have a voice at the election, and how we could make sure that voice was truly hers, without any undue influence from either us or her carers. Katie has always been very clear about making choices, but voting in the election is a lot more complex than her usual decisions.

"We picked all the leaflets that had been put through the door, and read out the main points of each. She was bored with most, but engaged with one in particular, laughing and smiling as I read out the details.

"After a break for lunch we showed her the leaflets again, and she made a very clear and distinct choice by repeatedly touching the very same leaflet and ignoring the rest. It was good enough for us: Katie had made her decision. (And it wasn't even her favourite colour or a man!)

"So off we went and all went well - including choosing not to vote in the local elections [which took place at the same time as the general election in many areas] when she saw her party of choice wasn't represented. The local people manning the polling station couldn't have been more supportive in enabling Katie to have her say. We couldn't be more proud of her!"

Wednesday, 6 May 2015

Saving the NHS? Go on then

I admit: I'm probably more than averagely interested in politics, and in the current general election campaign in the UK that reaches a resolution (or not) tomorrow. But every time a politician pops up somewhere promising to 'save the NHS', a bit of me feels a little bit more doomed. They clearly see it as an easy route to a few more votes: promises of extra billions here and there, for hospitals and for 'doctors and nurses'.

Because that's what looking after the nation's health and wellbeing is all about, apparently - hospital buildings, hospital beds, doctors, nurses. These are things that politicians can visualise and understand, and things they expect the electorate to appreciate. Say you're going to protect the NHS, and everyone is reassured.

Well, I find myself strangely unreassured by politicians being photographed at hospital bedsides. When was the last time a politician visited a wheelchair service at some obscurely located community rehabilitation clinic, where growing children have to wait upwards of six months to see a therapist who will adjust their wheelchair to fit and support their growing limbs? Or an 'upper limb' occupational therapy clinic in a special school? What about a 'movement assessment clinic' run by a multidisciplinary team of community-based health professionals - who have a huge waiting list - or an orthotics service where children are fitted with supportive devices, eventually, to keep them upright and stop their bones and joints becoming permanently deformed?

What about the day to day work done by physiotherapists, who - in the absence of time or money to offer intensive therapy - focus on making sure that kids like Amy have the equipment they need (the chairs, the standing frames, the sleep support systems - which may or may not be funded) to help them participate fully and comfortably in everyday life? Or the work of speech and language therapists, who help find a way of making communication possible, within local funding constraints? Do we want to fund referrals to Child and Adolescent Mental Health Services (CAMHS), or do we want to help children and young people communicate, so that they don't become unmanageably frustrated?

All of these things are part of the NHS. It isn't all emergency care and acute wards staffed by angel nurses - although these things become especially essential if community health services are neglected. And these are the services we rely on, day to day, week to week, year to year.

If Amy ends up in hospital, that feels like a failure. It's expensive for the NHS, and traumatic for her and for us. There are times when it'll be inevitable, but let's do all we can to make sure that policy-makers realise that the NHS is about more than hospitals, or even GPs.

David Cameron really, sadly, hasn't helped. His own experience - unprecedented as a national political leader - as the parent of a severely disabled child could have made so much difference to all our experiences. But it hasn't. When he talks about his son, I can't help noticing that he mainly talks about emergency care. Vital - of course. But for most of us, we rely on so many different public services to keep our children well and happy, to help them fulfil their potential, and to help us get by.

Hospitals, community health services, education, social care (which encompasses the day to day support to live a normal-ish life, and short respite breaks): each is a vital part of the jigsaw. I don't hear these things featuring in election debates. The democratic process is all very well, but I'm not convinced it's the best way of promoting and safeguarding the things that only a minority of the population will ever need. Still: the vote is ours to use. If we don't use it wisely, things could get worse.

Monday, 23 March 2015

Are they talking about us?

I saw an extraordinary piece of theatre at the weekend. (While I'd love to be the kind of person who goes to the theatre all the time, the logistical challenges make it a rare treat. So if I've bought tickets, organised someone to look after the kids and got myself out of the house in time, I really need it to not be disappointing.) 'Kill Me Now' features a teenager with severe physical disabilities and a parent whose life is apparently all in the past. It explores what it really means to take care of someone, how that can suddenly and shockingly change, and how chaotic and generally uninspiring the whole thing can be. 

I'm guessing we're all interested, aren't we, in seeing something we know a bit about reflected in fiction or drama. When it's something so close to home, though, the temptation is to home in on how closely or otherwise it matches our own experience, and to base our judgement on that alone. People can get awfully prickly if it's 'wrong'. Myself, I don't hugely care about whether what's being portrayed resembles my own experience, as long as it speaks someone's authentic truth, tells a good story and leaves me thinking about it for longer than it takes to get home.

'Kill Me Now' was incredible for its rawness and humour, and the way in which a parent and child living together with disability, struggling and muddling along, were centre-stage. The world in general doesn’t see enough of that side of life – but it’s never far away, if you care to look. I was just happy to see a portrayal of a family who weren’t busy inspiring everyone around them and making people feel uplifted, but were dealing with things like teenage hormones, stalled careers, dodgy love-lives and aching muscles – and latterly with the question of whether or not to stay alive.

There were things I recognised and identified with, and things I didn’t. But I don’t think any single play has a duty to reflect any single person’s particular experience. The question is whether it does what it is doing well, and whether it makes you think, not whether it sends the ‘right’ message (whatever that may be). I read a review by a Guardian writer who was outraged that ‘Kill Me Now’ didn’t reflect her own family’s rather privileged experience of living with a disabled child (customised bathrooms, undisrupted careers). She seemed to take this quite personally, without acknowledging that what was portrayed is indeed some people’s reality, and no less real than her own.

A more pertinent criticism is the portrayal of disabled characters by non-disabled actors. There is no doubt that we see far too few actors with disabilities, and if disability as a part of life is to come out of the shadows, that needs to change. (Although could someone with Rett syndrome act? And if they couldn’t, would it be wrong for a character with Rett, say, to be portrayed on stage by an actor with no disability or a different disability? I think it wouldn’t, as long as it was done well.) Good acting is good acting. A play like ‘Kill Me Now’ has points to make about how families cope and the choices they make that go beyond our individual experiences or our preferred narrative about how life is (or should be) for people like us. I'm just glad we are being talked about at all.

Monday, 2 March 2015

Hope against hope

It's March already, and this blog has been hibernating for months. No particular reason, other than a suspicion that I repeat myself a lot. Although in mitigation, living with Rett syndrome is nothing if not repetitive. How's Amy? Oh she's fine thanks, she's good. (Her spinal curve is worse. She's grown out of her wheelchair. She has a prescription for a new drug, which we can't give because it's inexplicably for intravenous or intramuscular use only. But she's remarkably well, as sweet and strong as ever, and her eye-gaze computer will be great once we manage to make it part of everyday communication rather than an occasional activity.)

When you live with a diagnosis of Rett syndrome and go in search of information about it, one of the things you find out is that there's a lot of research going on. All kinds of research, in different places, funded by different sources. There are many different approaches being pursued in parallel, all aimed at relieving the symptoms of Rett or even eliminating it entirely. Right now we don't know exactly what's going to prove most successful, in the short or long term. Gene therapy? Some other kind of procedure? A brand new drug of some kind? An existing drug that might work in a way no-one has thought of before? Or something else?

As the research progresses, information emerges. And every new bit of information gives rise to questions. Should we be excited? How excited? Restrained or unrestrained excitement? Should we tell our families and friends that there might be something? How do we put it into context? How do we avoid allowing our hope to cloud our critical judgement? Is it okay to be optimistic about a small, modest-sounding development, or should we stifle that optimism and wait for bigger, better news? How should we take it when the organisations we fundraise for seem to be sending different messages? Is all this quite beside the point anyway when your daughter's grown out of her wheelchair and the wait for a review appointment is 23 weeks, and you're wondering how much longer you'll be able to lift her by yourself without help?

It makes all the difference, for me, to know that it's happening. To know that there are scientific minds out there determined to unlock the mystery of Rett syndrome and then to find a way of unlocking my daughter. That it's on the radar of pharmaceutical companies and government regulators and professional bodies, and clinical trials are taking place and families are making sacrifices to drive those trials forward. It makes me feel like my daughter is important to someone other than just us. That children like Amy are no longer put quietly aside as if they are embarrassing mistakes, but are at the forefront of investigations that will potentially change forever the way that neurological conditions are looked at and treated.

But I don't expect it to be quick or easy. I never imagined I'd wake up one morning to the news that a cure for Rett syndrome has been found overnight. I expect it to be a long process, with many ups and downs and ambiguities. A step forward, a step back, but a body of knowledge that keeps growing and developing.

When a breakthrough comes, I don't mind who finds it, who funds it or where it's found. Impatient as I am, I know this'll take time. Whatever happens, it shouldn't pitch people against each other: not scientists, not funding organisations, and definitely not parents. We all want the same thing.

Sunday, 23 November 2014

Experimented on

Abby's face was dark with disapproval and I couldn't figure out why. I'd thought we were having an interesting chat over dinner about research, and what's happening with a couple of clinical trials that are going on in the US. I was telling her and Ed a bit about the latest, promising-looking results from one of the trials (a Phase 2 trial of the drug NNZ-2566). I also talked about the Rettland Foundation, created by an unstoppable woman with a vision for helping families get their girls into trials, getting the trials filled, and getting the results we all need to see as soon as humanly possible.

Abby had that 'I can't believe I'm hearing this' look, and I couldn't understand what the problem was. It turned out that the word 'trials' is the problem. Well, both the word and the concept. She thinks it's very firmly not okay at all to - as she sees it - 'experiment on' girls like Amy. She is horrified that anyone thinks it is.

She thinks that drugs should be tested on 'someone else' first, before they are given to children as special as her sister. She is outraged that girls in trials are being taken advantage of, and that they are forced to - as she sees it - take medicines that may not be safe. She is doubly-outraged that I am not as upset as she is, and that I even hope there will be an opportunity at some point for Amy to take part in a trial of a potential new treatment that could help her do more and be more.

Phew. Where to start? I see clinical trials as representing hope and progress. My thoughtful and sensitive daughter sees them as reckless and alarming.

I did my best to explain why I believe we can trust trials. I said that every medicine that exists began as something new that had to be tested. That the safety of a drug is tested, as far as possible, in the lab before it gets anywhere near a human being. That people taking part in trials usually get extra-good treatment and care, and more medical attention, than the average patient (and reminded her that members of our family have experienced this, in relation to cancer treatment).

That medicines have to be tested at some point on people who have the actual condition that the medicine might help, to see what effect it has on their symptoms and outcomes. That people are often eager to take part in trials not just because they might personally benefit, but because they want to help other people too. That girls with Rett syndrome who are already participating in trials have definitely, in some cases at least, indicated firmly that they want to do it.

That, if the opportunity ever arises here in the UK and Amy meets the criteria, we would do the very best we could to explain it to her and find out what she thinks about it, to make sure that she wants this as much as we do.

I don't know how much I helped. It made me realise that things that seem obvious to me, may not be as obvious as I think. And that we mustn't ever overlook the importance of communicating about all these issues with both our daughters. Research, though, equals hope and progress. No doubt in my mind about that.

Sunday, 9 November 2014


This was Amy's face yesterday when I told her that she'd got lucky - very, very lucky. The annual Reverse Rett London fundraiser took place on Friday night, and it was wonderful: a sparkly gala evening filled with hope and a steady stream of cash for the research projects that are bringing closer the day when Rett syndrome is a treatable disorder. It included a very special raffle, featuring an eye-gaze device donated by Tobii.

Regular readers will know how much we have wanted Amy to have an eye-gaze computer of her own - in addition to the one she has access to at school - that she can use at home, and wherever she is. Some fantastic friends joined us in buying raffle tickets, both online and on the night. We are so grateful to our friends - because one of their tickets turned out to be the winning one. So just like that, Amy has a PC Eye Go, featuring Tobii Communicator.

I am still pinching myself, and reflecting on the way that life can suddenly change by random chance. A piece of genetic randomness caused Amy to have Rett syndrome - and a random raffle ticket will open up, we hope, a whole new world of communication for her.

The event on Friday night was perfect: focused on the urgency of funding ongoing research, while recognising how much we want to help our children live the best lives possible now. I am overwhelmed by Amy's good fortune, but frustrated at how hard parents have to fight in the UK to get access to the most effective communication aids. Every child deserves the opportunity to communicate, and to be understood.

Thursday, 6 November 2014

Brilliant bodies breathe

"Breathing easily and fully is one of the basic pleasures of being alive." (Alexander Lowen, 'The voice of the body')

'Brilliant bodies' is the title of an annoyingly catchy little song on CBeebies. (On 'Nina and the Neurons', an otherwise excellent programme that Amy is very keen on). It always makes me feel a bit stabby, because - well, it's obvious why, isn't it.

Just for a minute, why don't you try stopping and focusing on exactly what your body is doing right now. I don't mean things like tapping your feet, scratching your head, leaning your elbows on the table. I mean the most basic-to-life things that happen so automatically, moment to moment, that you don't even think about them. The breaths you are taking. The beat of your heart. The process of digesting your food. (Okay, if you have eaten too much or too quickly, you might be a bit aware of this last one.)

Before I knew about Rett syndrome, I didn't think much about any of these things. When you have a typical, healthy child, you're interested in the internal workings of their body, of course, when they're tiny - have they eaten enough? burped? pooed today? shown any sign of being ready for potty-training? - but then you expect to get onto the fun physical stuff that you can see. You applaud them as they learn to hop and jump and dance and ride a bike; you warn them to be careful as they climb trees and turn upside down on the climbing frame at the park.

One of the many new words that Rett has added to my vocabulary is 'autonomic'. As in, 'autonomic dysfunction'. Which means something going wrong with the 'automatic', internal, invisible things your body does to keep going. The autonomic nervous system is what provides the connection between the brain and the internal organs. How I tend to explain Rett syndrome, especially to curious children, is to say that Amy's brain isn't talking properly to her body. This affects obvious external things like walking, talking and hand use - but it affects internal functions too. It affects her heart rhythm, body temperature, breathing rate, digestion, and other things. All of which are just as devastating - more so, in some ways, because they are subtler and harder to address and find a way around - as the things that cause her more immediately apparent disabilities.

So that's why I hear myself saying increasingly frequently (and pointlessly) these days, 'Just BREATHE, Amy'. It's as if her body forgets what to do: the brain-to-breathing connection is somehow interrupted. It's not as dramatic as it sounds: she doesn't turn blue, or faint, or cause anyone to run around in a panic. But she's started holding her breath, for a few seconds, all the time. And it bothers her. Once you start noticing it, it's very unnerving.

It used to be that she held her breath when she was being lifted from one place to another. Nowadays, she just does it, though it's more likely to happen when she's under some kind of physical stress. So while she was in her stander the other day, I realised that it was happening almost constantly. Breathing in - holding her breath - waiting...waiting - then breathing out, but not fully, kind of 'ragged'. And repeat.

It's a strange thing, but somehow you really do mirror the breathing pattern of the person you're with. So, without always realising it, I find myself mirroring Amy sometimes. Breathing in, but not out - not often enough. It makes me feel all wrong, kind of headachey and bothered. Is that how she feels a lot of the time? Breathing is the most basic thing there is: if you can't do it properly, nothing else really works.

Try it again. Feel your own breathing: then imagine it's an effort and doesn't just happen. For Amy and other girls with Rett syndrome, everything's a struggle. Not just fancy things like walking and talking.

With typical kids, it's impressive when they learn to run races, do gymnastics, perform complicated dance moves, and so many other things. With Amy, I'd assumed I'd be impressed by the tiny physical improvements that she works so hard to achieve: gaining strength in sitting, bearing weight on her feet, successfully reaching for, and holding onto, something she wants. But actually, just the whole business of breathing through the day is pretty impressive enough in itself.