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.

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.

Saturday, 2 August 2014

Up the tree

It's not been an easy week for Amy. Or me. (Obviously. One will invariably lead to the other.) She's on holiday from school, but we're not away anywhere. We haven't been doing anything particularly structured - no holiday playschemes or anything. (That comes next week.) And she's not been totally well. (Diarrhoea and wailing.)

I always struggle, during trying weeks like these, to work out if Amy doesn't want to do much because she's miserable and uncomfortable - or if not being able to do much is what's causing the misery. It isn't as easy to disentangle as you might think, because once she's out of sorts, she's hard to engage. But I have a strong feeling that her physical limitations make her very cross indeed, and that she is more aware of these during school holidays. Truth is it's just harder for me on my own than it is for school to get her doing things.

Yesterday, though, we had a few moments of getting over it. We were in one of our local parks, and Abby - an enthusiastic tree-climber - rushed off, saying 'the BEST tree is free'. And up she went. Amy sat in her chair looking up, and it was perfectly obvious that she wanted to be up there too, and that I could make this happen for her. She was thrilled with herself, and sat up on this perfect branch with very little need for support.

Rett syndrome makes her very grumpy. No doubt about that. Every now and again, when we help her do something she'd clearly like to be able to do, I can see the kind of child she might be without it. She's not an angel destined to sit patiently smiling in her wheelchair. (The fact that she ever does this is somewhat amazing.) Like her sister, she wants to climb. She wants to look down, not up.

Wednesday, 16 July 2014

To lose one pharmacist is unfortunate. To lose two looks like carelessness.*

We need to find a new pharmacist. Yes, another one. I’ve explained before about the difficulties involved in getting a regular supply of the medicines Amy takes on a long-term basis – the to-ing and fro-ing between GP and pharmacy, the debates over whether certain things can be supplied, and all the rest. I thought we had it sorted when we found a new pharmacist last year who was able to provide Amy’s epilepsy medication without any drama.

But it’s all gone wrong. The thing I’ve noticed with the NHS is that if you get into a good routine with something, don’t attempt to change it. Don’t try to add anything new, or take anything away, or ask for it to be done differently. Just thank your lucky stars that it’s working and you can get on with your life.

I forgot this rule when, back in March, Amy’s neurologist picked up signs of dystonia in her neck and arms and advised that she should start taking a tiny dose of trihexiphenidyl, a drug that helps tightened muscles relax. I assumed, naively, that it would be a simple matter of adding a new medication to the prescription list. I discussed it with our community paediatrician, who said that the GP should prescribe it and wrote her a detailed letter explaining what was proposed and what the treatment plan (gradually increasing the dose over a few weeks and then reviewing) would look like.

Still with me? The GP, it turned out, did not agree. The GP pointed out that trihexiphenidyl isn’t licensed for children – although is certainly used by kids like Amy, and parents and doctors report it is effective – and so should (in the GP’s opinion) be prescribed in secondary care, by a consultant. In other words, she wanted our neurologist or community paediatrician to take responsibility for giving Amy this medicine in the first instance. If it works out fine, she explained, she would do repeat prescriptions in the future.

Okay. But can’t you discuss it directly with the consultant, I asked. The answer that came back was one of those answers that doesn’t use the word ‘no’ but you’re left in no doubt that it isn’t going to happen. So back I went to the paediatrician to explain what the GP had said. Paediatrician wrote a prescription, and re-sent the treatment plan. (These events may all sound like they happened in rapid succession, but several months had gone by by this point.)

The conversation with the GP had raised my antennae that our community pharmacist might also have concerns about giving Amy this medicine. So I went prepared – I thought – when I took the prescription form to him. I also took along a copy of the paediatrician’s letter and treatment plan, explaining what and why and how.

He said no. He couldn’t/wouldn’t. The paediatrician’s letter didn’t contain enough information. And he handed both letter and prescription form back to me, in a ‘that’s that’ sort of way. Can’t you call the prescriber and discuss it directly with her, I asked. (I do hate having to relay between health professionals what they have all said to me. Why can’t they just say it to each other?) No. No, he wasn’t going to do that. Goodbye.

I’m afraid I lost my rag, right there in the middle of the pharmacy. Clearly it wasn’t the pharmacist’s fault that this had been going on since March and it was now July, but it was the total lack of willingness to help us sort it out that made me see red. It was pushed back to me, with no hint that he knew or cared anything about why Amy might need the medicines that are prescribed for her, and what the symptoms might be that a bit of proactive can-do-ish-ness from him could help relieve.

Back home, I considered the situation. Somewhat sheepishly, as I had handled it badly. It’s all very well to fall out with the pharmacist – but no getting away from it, he is the current source of Amy’s medicines. And we were running out of sodium valproate (Epilim). A prescription for Epilim was at that moment on its way from the GP to the pharmacy.

So I had to go in there again yesterday. I picked up the Epilim, and tried to have a calm conversation with the pharmacist about why Amy had been prescribed trihexiphenidyl. He said he didn’t want to discuss it.

A good community pharmacist is an essential piece in the puzzle that is living with a long-term condition. We need a good relationship with a pharmacist who can get hold of the medicines Amy needs and who is willing, when necessary, to pick up the phone and speak to the doctors who prescribe them. Who shows, dammit, just a small passing interest in the person for whom the medicine is provided. (Isn’t he even curious?)

This relationship has broken down, and right now I don’t know where we will get Amy’s meds. (I called the GP practice to tell them not to send any more of her prescriptions to this pharmacy, and they were dismayed.) But London apparently contains more than 1800 pharmacies. One of them, surely, must be able to cope with complicated Amy and her exasperated mother.

* With apologies to Oscar Wilde 

Sunday, 6 July 2014

There she was

A weird thing happened this morning. I was in the kitchen, doing some ironing. (Unusual.) Amy was in her room next door, just back from an outing with her dad and sister. Then, out of the corner of my eye, I saw her: she was standing just outside the back door by herself, smiling at me in the sunshine. I nearly dropped the iron.

She wasn't really. Of course she wasn't. But it was such a clear image.

I used to have frequent, vivid dreams about her walking and talking and being a fully functioning version of herself. They don't happen much any more. The way things are has become so routine to me, I suppose, that my restless brain is no longer trying to process it all.

But today I saw a little girl who could go where she wanted to go, and come and find me if she chose. She came and went in a flash, leaving behind an unexpected torrent of emotion.

The only conclusion I can draw is that ironing makes me hallucinate. That must be why I don't do it very often.

Friday, 4 July 2014

This 'local offer': what is really being offered?

The parents gathered around the table on Monday began by listening quite politely. We were there to hear from our local council about how the Government's special educational needs (SEN) reforms are being implemented in our area, and what the whole thing will mean for our children.

'Reform' of this type makes me twitchy. It's one of those 'better the devil you know' scenarios: SEN statements may be a long way from perfect, but will their replacement - education, health and care (EHC) plans - really improve what's available for children like Amy? Rather than, for example, making it easier for the council to wiggle out of its responsibilities?

It does sound promising, in theory. Bringing together all the different aspects of the support and care Amy needs in order to learn, stay healthy and have at least some of the same opportunities as other kids.

But it all comes down to making the new EHC plans detailed enough to be worthwhile, and to finding agreement not just on the 'outcomes' we are working towards with Amy but the things that need to happen to make those outcomes remotely achievable. Right now, Amy's hard-won statement is the only bit of power we've got: a legal document that says exactly what support she should have. Will the EHC plan, when she gets one (it'll be a two-year process, re-assessing every child in our borough who currently has a statement), have the same effect?

The council officers at the meeting were very keen to be reassuring, and to emphasise the focus on outcomes - but on the basis of not much actual detail. Their argument seemed to be, 'We wouldn't be doing this if it wasn't going to improve things'. But they couldn't tell us much about how an individual child's EHC would protect their services and support, particularly in social care.

And one of them admitted that, 'Outcomes are determined by the support that's available'. Yes, I'd suspected they would be. The bottom line will be the amount of resources the council and NHS decide to allocate to children with disabilities, not each child's needs and potential.

What they most wanted to tell us about was an element of the new system called the 'local offer'. This is a new initiative - though hardly startling in its creativity - to bring together information all in one place, on the council's website, about what is available in our area for children with disabilities. Everything from special needs swimming classes to after-school care. It's not quite as obvious as it sounds - finding out what exists locally that might help us is a haphazard business at present, based largely on rumour and hearsay, and unassisted by the council's children's disabilities team, who mostly deny all knowledge of the existence of anything - but I am distinctly underwhelmed.

So was everyone else, it turned out, because the floodgates opened. This local offer is not any kind of offer, really, is it? It's a list. A directory, if we want to dress it up a bit. Information is certainly needed, but we need more than that: we need access. And that's where the whole thing became not just vague and non-specific, but positively insulting.

The head of the disabilities team clearly thought she was onto a winner, when she explained to bemused parents that the new system would be 'just like using Amazon, or Trip Advisor! You can look for what you want and find out what other parents have said about it.'

Of course: that's exactly what it'll be like. All we need to do is click and we'll get what we want? As always, it will come down to getting through the system, getting the necessary referrals, 'passing' an assessment to determine whether we really do need what we need.

One parent called it 'window-dressing'. Others, like me, emphasised how the onus is still on parents to fight for what their children need and how emotionally exhausting this is. Because it is a fight. We want help and support, they want to avoid spending money: how is that ever going to work as a relationship? (I have never had a phone conversation with the disabilities team without crying when it's over.)

One despairing mother said, 'I'm too busy for my life'. Another parent added, 'You make us feel guilty for asking for things.' There was a lot more in the same vein: the head of the team had clearly not expected any of it.

This gruesome meeting left me not a whole lot wiser about how EHC plans will work in practice. But it did make me realise how important it is to find this out from somewhere: I don't think we can just sit and wait for the change to happen and cross our fingers that we won't lose anything. The 'local offer' is, it seems to me, just a distraction. It could be so much better.