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.

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.

Thursday, 2 October 2014

A motor disorder, not a mental disorder

Rett syndrome is a motor disorder, not a mental disorder.

This is possibly the single most useful way to sum up the condition that I’ve heard. It sounds simple, but the implications are huge. It means that her body may not work well, but her mind does. Which means that all the assumptions people might make about a girl with Rett syndrome need to be re-thought, and all efforts directed wholeheartedly at helping her learn – without the requirement to perform physical tasks in order to demonstrate what she knows.

That, in a nutshell, is what the Rett Education day I attended back in July, led by Susan Norwell, was all about. I came away from the event enthused and inspired and full of we-can-do-this-ness, but wanted to think a bit further about it before I shared anything here. And then it was summer, and the pile of notes I took sat untouched on my desk while I coped with Amy, who was grumpy and on edge and seemingly unable to engage with anything much for weeks on end.

There's always a disconnect between knowing what should be happening - if only I was more focused / had more time / was better able to lead the conversation with school - and what's actually happening day to day. There are so many things we could be doing, if we weren't distracted by the here and now. And here and now, very often, Amy's yelling or otherwise protesting and my main concern is with getting her to stop - so teaching her to read will have to wait.

This week, though, I looked at it all again, reflected on all that Susan had said and what she showed us about what girls with Rett syndrome can do, and felt re-inspired. Because what she said rings true about my daughter. Amy understands; she knows; she can learn. And it properly struck me that this isn't unrelated to the frustration she frequently, noisily expresses. She's not in pain. She has something to say. And she needs us to believe in her and to help her find a way to say it.

Proving to the world - or the bit of the world that has the power to make funds available for things like eye-gaze devices - that her cognitive abilities exceed her physical abilities is an ongoing challenge. It has to be proved, you see, for resources to be unlocked. Yes, before she can get a computer of her own to help her learn, she has to prove beyond doubt that she is able to learn without it. (If there is any concept in education more frustrating and illogical than that, I have yet to hear it.) Fortunately she does have access to eye-gaze at school, and gaze viewer - which shows exactly what she's doing with her eyes - is in place there too, so we should be able to build up the necessary evidence. Nothing ever moves fast enough, though.

Eye-gaze technology holds the key to a lot of things, but of course there are things we can do without it. Sharing books, and offering her letters, words and numbers can all be done in a low-tech way. But Amy's way more motivated - as a 21st century kid - to look at what's going on on a screen than at any number of pictures and symbols she's presented with on a board. And nothing else really offers the opportunity for her to spontaneously communicate what's on her mind.

Right now I think the most important things we can do are to let her know we believe in her, to stop making too many demands on her at once (it has to be either motor demands or cognitive demands - both at once is a ridiculous strategy) and to keep reading and talking. As well as pursuing the use of eye-gaze as a voice, not just a toy. 

Getting everyone who works with her on board with this requires, as Susan put it, either an understanding of Rett syndrome or a leap of faith. Fortunately enough is now understood about girls with Rett syndrome and how their minds work to put faith firmly in second place to evidence.

Tuesday, 16 September 2014

On the same side

High-profile news stories about children with serious illnesses or disabilities inevitably have me speculating about how I would react to whatever the situation is that's making the news. One effect of living with Rett syndrome is that I find myself far less ready than in earlier, more certain days to judge other parents for the decisions they make. Because, with pretty rare exceptions, I think that most people are just doing the best they can for the children they love, in circumstances that are probably unimaginable for the rest of us.

The recent case of Ashya King - the five-year-old with a brain tumour whose parents were arrested and imprisoned when they removed him from the hospital where he was being treated in England and travelled with him to Spain - had me spluttering with indignation on the parents' behalf. It's not a crime to travel with a child who hasn't been made a ward of court. There was no evidence that the parents weren't going to look after him. The detail that the media particularly loved to repeat about the battery-operated feeding tube that was running out of battery, putting Ashya's life in danger, was especial nonsense: feeding pumps are operated competently by parents every day, at home or out and about, with batteries recharged by the simple expedient of, yes, plugging them in. I was incensed for Ashya's parents at the assumption of both incompetence and ill-will on their part.

Of course there are many details that I don't know. I don't know what conversations had taken place between the parents and their son's doctors, or what his prognosis was, or whether the treatment that they wanted him to have - not available to them in England, and not supported by the doctors they'd seen here - was a sensible option in his case or a candle in the wind.

What is glaringly obvious, however, is that the relationship between Ashya's parents and his medical team had broken down disastrously, with horrible consequences for everyone, not least a sick little boy. Whatever the rights and wrongs on both sides, we can conclude uncontroversially that all trust was gone.

When you have a sick child, you can't manage without a high level of trust. You have to trust that the doctors, nurses, therapists and others know what they're doing - and that if they don't, they will admit uncertainty and won't plough on regardless. But you need them to trust you, too. You need them to trust that you know your child better than anyone, and that your only agenda is to get your child well.

It's about believing that you are all on the same side. And if you feel like you're not, that's when terrible cases like Ashya's can happen.

How did things get so bad for that family, on that hospital ward? Why did they feel un-listened-to? Why did they feel that their only option was to take their son and leave the country? Could anything have been done to prevent those parents reaching the edge, and then stepping over?

I think it could have been prevented. I don't think it would have happened these days at 'our' children's hospital, where Amy is treated for all the medical complications of Rett syndrome and for her heart condition. Rather innovatively - it's the only scheme of its type in the UK - the Evelina Children's Hospital has introduced a conflict resolution and mediation scheme, to improve communication between clinicians and parents and prevent a problem becoming a crisis.

How much this service is needed is shown by the figures, which astounded me: 68 instances of conflict in just a three-month period this year. Finding a way of talking these through - of ensuring that parents' concerns can be properly heard, and a solution agreed that makes sense to everyone - makes all the difference for children, parents and staff. (It also saves a whole lot of money, if families don't end up feeling that the only way to be heard is to go to court.)

You can read more about the Evelina mediation scheme in a recent newspaper article here. And if you click on the link you can also admire a lovely picture of our friends Henrietta and Andy and their daughter Isi, and read the story of how mediation could have helped them during an extended and traumatic hospital stay a few years ago.

Henrietta and I are convinced that every hospital should offer a service like this to patients and their families, and that it could prevent sad cases like Ashya King's in future. So we have put together a petition to the chief executive of the NHS in England, asking for medical mediation to be offered at all hospitals, and for medical staff to be trained in resolving situations where trust breaks down. It's not asking for the moon and stars - it's something that we know is workable, could be done everywhere, and would signal that yes, we are all on the same side.

If you're in the UK, and you agree, please sign the petition. It's right here.