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, 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. 

Sunday, 7 September 2014

'Your child may seem agitated, or show changes in mood'

'Side-effects', I've long thought, is an entirely unsatisfactory way of describing what medicines can do to a person. If the 'side-effect' is consuming you, and making the thing that the medicine was prescribed for seem entirely insignificant, then that's more than a side-show - it's the main event. It doesn't matter if rational outsiders (health professionals, for example) judge that the impact on the original thing is objectively greater than the other things that are happening: if it makes life overall worse, it has to go.

Amy has always tolerated medicines brilliantly. I've heard lots of parents talk about the problems that particular medicines have caused for their child, and felt thankful that we hadn't experienced this. Our very first experience of medicine for Amy occurred when she was a tiny nine days old and admitted to hospital breathing fast-fast, unable to suck, her chest caving in with each breath, struggling. After a few hours on equally tiny doses of diuretics, her breathing had slowed and we could take her home. Those drugs kept her going for the first year of her life until she had the surgery that made her heart function more normally.

Since then, the medicines she's been prescribed have either worked to improve the problematic thing, or they have made no difference whatsoever. (Early adventures with reflux medicines. I was ready to throttle the next person who suggested we give her Gaviscon. Hers just wasn't the kind of reflux that could be helped by Gaviscon.)

When she started having seizures early last year and was diagnosed with epilepsy, I expected the road to the right medication to be bumpy, because that's what many people experience. But she responded brilliantly to sodium valproate: fewer seizures + no side-effects = result.

I think I became a bit blasé. Medicine, I assumed, was something that Amy was okay with. When she was prescribed trihexiphenidyl a few months ago for muscle spasms in her arms and neck caused by dystonia, my main concern was actually getting my hands on it. At first no-one wanted to take responsibility for prescribing it, and then our local pharmacist - frustratingly - wouldn't supply it. (Because he wasn't satisfied with the information he'd been given from the prescriber: not because of potential side-effects.) After all the effort involved in getting hold of it, I thought it would be a simple matter of incorporating it in the daily medicines routine: starting with a small dose and working our way up gradually to a full one.

But that's not how it was. Instead, we found ourselves in the summer from hell, and for a while I just couldn't work out why. Amy was miserable, day after day, and not simply in her usual limited-patience, low-tolerance sort of way. She was properly upset, and couldn't easily be consoled or distracted. She cried at things that usually make her happy - like walks outside, or car-journeys. (We drove 400 miles to Germany in the middle of this. Our ears...) She didn't want to read books, or engage with us much at all. She didn't want to do anything, except be left alone watching a limited range of CBeebies offerings. (And even 'Little Robots' stopped helping.) She also went off the whole idea of eating. It was grim. The only consolation was that her sleeping remained unaffected. She seemed glad to go to sleep at night, and woke up happy and smiley in the mornings. We got her up as usual every day, gave her her usual range of medicines, and then an hour or so later, all her good cheer had gone, replaced by a miserable and agitated demeanour that we couldn't fix.

I can't remember the exact point at which Ed and I asked each other in despair, could it be the new medicine? It seemed far-fetched at first, because the dose was low, initially. It wasn't helped by the fact that school had finished for the summer, and Amy and I operate better as a team when we're not together all day every day. But nothing else had changed. I know that Amy prefers the school-routine to the holiday-routine, but the last two summers were nothing like this. She seemed in her own world, and not in a good way. She cried proper, miserable tears at things that really wouldn't normally make her cry. (They might make her squawk impatiently, perhaps - but not cry miserably like this.)

I tried to work out what else it might be. I wished, liked I'd never wished before, that she could just TELL me. Amy's communication depends on her being calm and focused. It all breaks down when she's miserable and agitated. Using her eyes doesn't work when she's like this. I wondered if she was in pain of some kind - teeth? hips? something else? But it didn't seem that way. Surely if she had toothache or similar, it wouldn't just go away at night and would disrupt her sleep? If she had pain in her hips or other joints, wouldn't it be worse when we moved her? A urinary infection or something along those lines would have other signs, wouldn't it?

I looked up the information on trihexiphenidyl, and found this under possible side-effects: 'Your child may seem agitated, or show changes in mood.' Yep, I'd say. So we concluded that the medicine was the most likely explanation, especially as things seemed to be getting worse as the dose increased. I emailed her paediatrician, in a fit of extreme despair one afternoon, saying that either we had to help Amy or help me. (Never knowingly under-dramatised.)

As a result, we reduced the dose. And now we've stopped giving it entirely. And Amy is back to what passes for normal. She's even eating a bit more. I know she's gone back to school in the last few days (and she is clearly thrilled), but I don't think that's the only explanation. For a few weeks she didn't seem like herself - not even an unusually grumpy version of herself - and that seemed to scare and alarm her. I don't know how or why the medicine made her feel all wrong, but I believe it did. For now, stiffer muscles seem like a relatively small price to pay for her not crying all the time. But I still feel like I'm none the wiser, really, about what and why.

Monday, 1 September 2014

Telling tales

Isn't it annoying when your kids endlessly tell tales on each other? When they come to you trying to win attention and brownie-points by telling you in sanctimonious tones what their sibling did? When they put on their best shocked face as you find something that shouldn't have occurred and ask, 'Who did this?'

Well, my kids don't, of course. But it's how my brother and I used to carry on, and I don't imagine we were all that unusual. It's an element of typical parenting that I mostly feel quite glad to be spared.

Until today, when Amy 'told' on her sister, and Abby was so surprised she ran out of words. I'd left them in the kitchen together while I went to do something. (Read Facebook in the garden, most likely. By this stage in the school holidays I am fleeing their company at every opportunity I can.) I came back in to find water all over the kitchen table and floor. 'Abby - did you do this?' Rhetorical question, but I felt the need to ask it anyway as a prelude to yelling at her.

Abby began a wide-eyed denial. And was then stopped in her tracks by a deep chuckle from the girl in the chair who sees and hears things, even when it looks like she's not paying attention that day. I was thrilled with this little piece of sibling mischief-making. 'Amy - did Abby make a mess? What did she do?' She was loving it. Abby, though, was unamused. 'Amy's telling tales! Amy!' But she was a little bit impressed too.

Tuesday, 26 August 2014

Real food: a revolutionary act

"When it becomes a revolutionary act to eat real food, we are in trouble." - Dr Mark Hyman

An odd thing has happened in the last few months. Amy is finally growing steadily, after all these years when her weight gain was barely visible to the naked eye. And at the same time, she has almost given up eating. The odd day, the odd meal, she manages quite well. Soft food, in small quantities, consumed over ever-lengthening periods.

But she's mostly lost the enthusiasm she once had for food. She still opens her mouth convincingly for chocolate buttons. (Though it takes her so long to get through one, she rarely has more than two or three at a time.) And she's recently discovered bacon frazzles, which she shares my enthusiasm for but can't really manage. (The mess!) Most days this summer, though, she's eaten rather less than an anorexic mouse.

I haven't over-worried about it. Because no matter how little she eats during the day, we know she'll get additional calories and nutrition overnight while she sleeps, from Nutrini Peptisorb, via her tube. The night-feeds are working well, in that she tolerates them, doesn't vomit, and has gained weight steadily since we started the whole thing nearly a year ago.

But night-feeding isn't enough in itself. It's only meant to supplement what she's taking in during the day. As the day-time intake shrinks, I can't avoid the conclusion that we need to do more. The 'more' being introducing tube-feeds through the day, in place of at least some meals.

This isn't just a relentless drive to increase calories. I also think we need to relieve her - at least some of the time - from the burden of eating. Because it does often seem burdensome to her, rather than a source of enjoyment, which makes me sad. Nine times out of ten these days when I produce her bowl, spoon, bib and wipes, her body language is pretty clear: on tolerant days it's 'do I really have to?', on difficult days it's 'not a chance'.

So my intention is to keep offering food, but to put some through the tube as well. To give her via syringe and tube the same food that I can't get her to eat from a spoon. Not to replace meals with yet more Peptisorb. (I'm all in favour of things that make life easier, in general, but can't convince myself right now that something as essential and good as real food has to be replaced wholesale with evil-smelling formula.)

This is as close to living on the edge as my life gets right now. Because using feeding tubes for actual food is not universally considered to be the done thing. (I'm not entirely sure why. A combination, I think, of the perceived risk of the tube getting blocked, and professionals getting twitchy about the loss of control that occurs when they can't count things.) Our community dietitian - a pragmatic woman - told me that she couldn't recommend it, that all her professional guidelines advised against, but that she was sure I'd find out everything I needed to know. Amy's gastroenterologist, on the other hand, made me fall off my chair at our last appointment by telling me with a conspiratorial air that he was all in favour.

We did it for the first time today. Amy ate half her lunch, and the other half went through the tube. A metal sieve was sacrificed along the way. (I'm not forking out hundreds of pounds for a state-of-the-art whizzer until I'm sure this is what we're really doing.) She thought it was interesting. Nothing bad happened. Real food revolution, right here in my kitchen.

Tuesday, 19 August 2014

Our best face

I bow to no-one in my fondness for Facebook. It diverts and sustains me on a daily basis. I love the way I can keep up, just a bit, with the lives of friends who I wouldn't otherwise hear from much, get to know better the people I'm already real-life friends with, and connect with people I wouldn't know at all if it weren't for the shared fact that our daughters have Rett syndrome. (It's also an important source of daily chat for those of us who don't have an office or other workplace to go to every day. A virtual water-cooler.)

I often say that I don't know how people coped with something like Rett syndrome in a pre-Internet age. I can't imagine not having the perspective of families around the world to add to our own limited knowledge and experience of this thing we live with. I do my own fair share - more than! - of putting out there how it is for us, in an effort to make the impact of Rett syndrome a bit better known and understood, in all its complexity and far-reaching-ness.

But it's sometimes hard to keep it real. Even when you're conscious of the risk of sugar-coating, it's hard not to sugar-coat. To post pictures of a smiley moment, anecdotes of extreme connectedness, an overall impression of having everything together and sorted. Because that's what people seem to like. (And 'like'.)

None of it's untrue. But it's only a tiny fragment of the bigger picture.

It's hard to resist: we have a good moment, I take a picture, write a little spiel, share it with the world, count the 'likes', enjoy the positive comments about how marvellous we all are.

And in my head, I'm thinking: what a crock. I'm colluding in making this all seem just fine. Look at my cute daughter with her sweet smiles, look at how my kids interact so nicely with each other, look at all the 'normal' things we're able to do, look at how well we're doing.

It's such a very incomplete truth. And so I've begun to wonder if Facebook sometimes hinders as much as it helps: all those calm, smiling 'angels', all those relentlessly patient/coping/resourceful/cheerful parents. If you're having a bad day with a child who doesn't seem to have read the script about how silently angelic they are supposed to be, or who can't manage the basics of eating or breathing or whatever other key bodily function that day, seeing everyone else having everything apparently under control can make you feel the very reverse of connected.

I understand, I think, why we all do it. We want to feel good, both about what we share and what we read. But is there anything more alienating than looking for families who might be facing the same challenges, only to find that everyone else is apparently doing great and it's only you who's struggling?

I'm not sure how to solve it. I try to be pretty honest in this blog, and on the Facebook page that accompanies it. I suppose I could post 'discomfort' pictures of my daughter, or share the gory details of every indignity that she and I are regularly subject to. I could vent out loud every time I want to scream that I've had enough and can't see how I'll live like this forever. I could confess that I'm utterly rubbish at being Amy's mother - that the extra patience that having a 'special' child is supposed to confer on one has somehow passed me by, that I frequently have no idea at all what might be upsetting her, that there are days when, if someone offered to take her away from me, I'd say 'please do'.

I could. And sometimes I do. But some things are too raw to share, and for the most part, you might have to take it as read. I post the positive stuff because it feels good to have something positive going on at the moment I post it. Perhaps that's the case with everyone else too: we do it for our own sanity. I just hope that it doesn't cause anyone who's in the midst of a bad day - or a whole series of unendingly bad days - to feel any worse.

Facebook is great for letting us share our best, shiniest selves. But the whole story, for most of us, is way more complicated than something it's easy to 'like'.

Tuesday, 12 August 2014

Last day of being six

Today was Amy's last day of being six. Tomorrow will be her birthday. And that's okay: we've got the hang of birthdays. Being away on holiday is, for us, the way to go. (Lucky this birthday happens in the middle of August.) Expectation-wise, turning the day itself into just another bit of our trip seems to work best, both for her and for us.

This week we are in the beautiful Rhine valley (Oberes Mittelrheintal), in western Germany. Far enough from home to feel like an adventure, not far enough south in Europe to be unmanageably hot for Amy. We are staying on the banks of the sparkling Rhine, where every bend in the river brings a new fabulous view and there is something lovely to look at in every direction. We are exploring, but not too energetically, and generally relaxing as much as we can in the context of a family self-catering holiday. (You know: same shit, different place.)

We are loving it, but I can't honestly say that Amy is doing the same. I have a distinct feeling that she'd prefer to be having another week at the excellent playscheme she attended at home in south London last week. If I knew what she'd really like to do each day, what would make her happy - or at least not actively unhappy - I'd do it straight away. But she's not giving us much of a clue.

The last day of being six was the usual mix of up and down. She still mystifies us - I wish I could report that we understand her better each day, but that would be an over-simplification - and moments of misery are followed, with eye-blinking speed, with moments of extreme delight. She was very happy to sit in the shade in Rudesheim today, surrounded by flowers, listening to the pianist who was playing at a nearby Biergarten. We even managed lunch (that wasn't a picnic, for once) ourselves.

I have tried asking her what she'd like to do tomorrow. I know from her reactions that she's excited about her birthday - just as she indicated very clearly to us that she was excited about going on holiday. (It seems that she can get excited in advance of things, and then struggles to manage them when they happen.) She's giving nothing away.