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.

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.

Tuesday, 24 June 2014

Whatever gets you through

I am so reluctant ever to give anything that sounds like advice about anything to do with Rett syndrome. Because our girls can be so very different, and all I'm doing here is muddling along as best I can and telling you a bit about how it is for us. (The feeding tube post from last week? That wasn't advice, so much as a reflection on reasons not to be intimidated by people whose views are fixed and whose daughters may be entirely different to yours.)

But I've thought of something to be dogmatic about, and it's this. When living with Rett syndrome - especially the noisier aspects of it - becomes overwhelming, it's okay to do whatever it takes to get you through.

Speaking as someone who has spent a large part of the last few years engaged in relentless self-flagellation about not doing 'enough', I have concluded that it's a monumental waste of emotional energy. I have paralysed myself with fear about the implications of not doing everything (in)humanly possible to help Amy achieve her potential. And it would be wrong to imply that this is all in the past: I still worry about it approximately 37 times a day.

There are days when all my good intentions of incessant improvement go out the window. When every attempt to engage Amy in an activity crashes and burns, and she cries and rubs her face and her hands go into over-drive and I feel like a failure. When all she seems to want to do is watch CBeebies, and all I seem to want to do is let her.

All these feelings were shared and explored in an interesting online chat last week, when I was relieved to hear other people talk about how difficult everyday life can be, and how hard it can be to do the things we want to do - not because I revel in misery, but because it's just reassuring to know that other people struggle too. (I will keep it for reference, for days when there has been a surfeit of happy-smiley-angel posts on Facebook and elsewhere. Not least because I like the reassurance that many girls seem to get calmer and happier as they get older, which does seem to be the case with Amy too. More or less.)

Hearing other people relate the same experiences we've had - the inconsolable crying, the agitated screeching, the difficulties in public settings and social situations, the cluelessness about what to do - makes me realise that it's just HARD. It's not that we handle it badly - it isn't easy for anyone. Hearing other people express the same feelings I've had helps me pinpoint where the madness lies: it lies in the determination to carry on regardless.

Sometimes carrying on with whatever we've planned is sensible. But sometimes it really isn't. Sometimes, I think, we just need to be a bit kinder to ourselves and our girls, and implement plan B. Even if plan B is watching whatever thing she's watched 50,000 times before. She needs it. It helps. That's okay. One wise parent said "I tend to think that her life is hard enough without having to cope with things that upset her until she screams for several hours". Amen, sister. We're in this for the long haul. We can't burn out.

If all that makes her happy is watching Mr Tumble on repeat, then so bloody well be it, until the storm has passed and you've gathered the necessary emotional resources to try again with other things. In any case, what's the problem, really? 'Mr Tumble is FUNNY', as he likes to remind us. How much worse it would be if he (or whatever the preferred equivalent) wasn't there. Important to be grateful for small mercies. As you won't often hear me saying.

Tuesday, 17 June 2014

10 reasons why a feeding tube is not a 'fad'

1. Sometimes chewing and swallowing is more of an effort than you could ever have imagined. Sometimes it doesn't happen properly at all. In Amy's case, she can chew the same small mouthful of food for 15 minutes or more, and some of it will still end up unswallowed, pooled at the front of her mouth. It doesn't lead to much of a food intake for the amount of effort involved.

2. Growing matters. Gaining enough weight to stay healthy - even maintaining that hard-won weight - can become an all-consuming struggle. For children like Amy, even if they ate all day - even if we did nothing but sit and coax her to open her mouth, chew and swallow, from breakfast time til bedtime - she still wouldn't manage to take in enough calories for energy and growth.

3. Spending all day eating isn't an option. There are too many other things to do. Things that are important for Amy, I mean: moving, learning, interacting, having fun. (I'm not hooking her up to the feeding pump so I can lie around reading novels and having my nails painted, in case you were wondering.)

4. Hydration matters too. To state the obvious. Taking in enough fluid is essential for health, not to mention mood and overall demeanour and wellbeing. So what do you do if your child can't swallow more than a few drops of liquid, and most of it ends up going down their front rather than down their throat? You can get thickeners for drinks, that's true, and provide drinks on a spoon. But please refer to 2 and 3 for why this may still result in an inadequate intake and tears all round.

5. 'Proper' eating is still possible. Yes, yes it is. In our experience, the tube doesn't change anything about Amy's ability or willingness to eat by mouth. It's an extra, not a substitute. It's not the thin end of the wedge, the beginning of the end, or anything similarly apocalyptic.

6. The fact that fewer people had feeding tubes in the past is neither here nor there. All kinds of things didn't happen in the past that might have helped. Children may well have been thinner, and frailer, and sicker, and less able to withstand infection. Having options to help our children be as healthy as possible - and in a position to benefit from other, non-nutrition-related things - is a huge benefit. I'm glad it's not 'the past'.

7. Staying out of hospital is a good thing. An understatement, if you are as much of a hospital-resister as I am. Amy has avoided at least two hospital admissions for dehydration since she's had her tube, as she can be rehydrated through the g-tube rather than intravenously.

8. Being able to take the full dose each day of life-saving medicines is useful. I don't think I need to add anything here.

9. Life - even life with Rett syndrome - has to be about more than worrying constantly about eating, weight gain and millilitres of medicine. Obsessing endlessly about calories and centiles and all the rest of it is no way to live, if it can be avoided. Let's move on.

10. There are no prizes for avoiding a tube. In the end, for me, it's about what Amy needs and what helps her most, so that 'what goes in' returns to its rightful place as a little piece of the bigger whole, rather than the entire picture.

Monday, 9 June 2014

Yes to respite

I never expect anything positive to come by mail these days. Don't people write you a letter and put it in an envelope when they are saying 'no' to whatever the thing is that you want them to say 'yes' to? If it's a 'yes', aren't they more likely to call or email? So when today's mail included a slim envelope postmarked from the charity that runs the children's hospice we had referred Amy to a few weeks ago, I wasn't hopeful. I fully expected a 'thank you for your interest, we are unable to help on this occasion, we wish you all the best' type of missive. (Can you tell that I'm on the brink of despair-stroke-rage over our failure - so far - to find someone to fund the sleep support system?)

But it didn't say that. It said yes. Yes, we can help. We can offer respite care - short breaks - for Amy.

I had to sit down to digest it fully. First, the 'yes' without any kind of prolonged drama. Then, the relief that this follows on seamlessly from our previous respite arrangement (which came to an end this past weekend) and that I don't have to deal with our local social services. And finally, it hit me. Maybe it's the word 'hospice'. I had strongly suspected we'd be told that Amy's condition isn't 'bad' enough, that even though she's 100 per cent physically dependent, and often emotionally challenging, her medical problems aren't acute enough to justify this type of care. But, holy crap, they do think she's bad enough. For a fleeting second I felt like writing back to say 'oops no, we made a mistake, she's okay really, we can manage'.

We CAN manage. But we definitely manage better with regular breaks. The value of respite, for me, is not just having time off, but knowing it's coming. Breaks don't have to be long, or even especially frequent, but they do have to be planned and regular. I don't know yet exactly what the new arrangement will be, but I'm certain it will be a good thing for all of us: for Amy because it's an excellent facility with many of the things she likes most, and for us because of the space it gives us to breathe out.

This is what I tried to explain, among other things, on Friday. Friday was D-day. Actual D-day, of course, but also, coincidentally, our diagnosis day - five years since we had it confirmed and spelled out that Rett syndrome was the explanation we were looking for. I found myself marking the occasion by speaking to a group of care professionals in our area (doctors, therapists, social workers and various others) about our experience of adjusting to disability and interacting with local services. It was a training event, focused around safeguarding, and I'd been invited to offer a parent's perspective. Never one to let an opportunity like this pass by, I talked about various things - overarching theme: the need to know that we, parents and professionals, are all on the same side - but focused at some length on the question of respite.

There's an obvious link between respite and safeguarding. Stressed parents don't always make good decisions. Putting in place the 'safety valves' that enable us to keep going is in everyone's interests: don't we all need time to kick back and be responsible for nothing more than our own selves for short periods? And then return recharged and better able to be the parent or carer our children need us to be.

When you have a child with complex needs, respite isn't a luxury. It's exhausting being on duty all the time, both physically and emotionally. Speaking for myself, I need to let someone else do the care-providing and problem-solving from time to time. Someone who isn't my husband, because sometimes we need to have breaks together. Because it makes us stronger, and makes the world more manageable. Whatever they call the place that provides it, I am grateful.

Tuesday, 3 June 2014

'The reason I jump'

We got back at the weekend from a week's holiday in the Scottish Borders, near to where my parents live. It's a remote and slightly overlooked area, less well-known than other parts of Scotland, far away from major roads, railway stations, airports, and other conveniences of life. It's beautiful, in a gentler sort of way than the Highlands. Whenever I go, I always feel as if time has stopped a bit.

We stayed in a converted stone farm building (all on one level, great for Amy's chair), deep in the Cheviot hills - down a track, through a ford, across two cattle-grids and over a tiny bridge with no sides. (We live in inner London: when we go to the countryside, we like to really go.) All we could hear, at any time of day, was the birds and the sheep and the stream and the distant church bells of Yetholm Kirk. It's the kind of place that makes you go 'Ahh, PEACE'. (After which: What, no internet access? No phone reception either? What...?)

I always think holidays like this will be a perfect reading opportunity. And sometimes they are. This time, though, it didn't really happen. My pile of books remained largely undisturbed, while I spent most of the time staring into space. (And trying to get Amy to pay attention to the rabbits, which played outside the window most mornings. She and I also made progress with 'The BFG', which she's keen on. The descriptions of giants eating children made her laugh.)

But I did read one marvellous book. Written in little bite-size chapters, it suited my concentration levels very well. 'The reason I jump' is a singular account of what it's like to live in a world where your body won't do the things you know it should, and you can't communicate the thoughts that are in your head. The singular thing about it is that it's written by a teenager, Naoki Higashida, who lives with severe autism, and all the experiences and feelings he describes are his own. (He 'writes' by means of an Alphabet Grid, a method of non-vocal communication.)

Amy doesn't have autism, but I was hugely struck by some of the observations in this book, which I'm sure she would agree with - if not now, then possibly in the future, unless we find a way of better understanding her and enabling her to express herself. The author conveys the pain and frustration of being constantly misunderstood, and the effect that can have on a person who has hopes and dreams that they can't share and that other people may not recognise as even existing.

"Children with autism are...growing and developing every single day, yet we are forever being treated like babies... Every single time I'm talked down to, I end up feeling utterly miserable - as if I'm being given zero chance."

The book takes the format of a series of answers to specific questions based on what people think they know about autism. I had a bit of a pang at this one: "Do you prefer to be on your own?" Because sometimes, honestly, Amy does seem to prefer to be on her own. (For short-ish periods - not all day!) But maybe this is her response to other people not understanding, or to the pressure of having to try so hard all the time.

"I can't believe that anyone born as a human being really wants to be left all on their own, not really... The truth is, we'd love to be with other people. But because things never, ever go right, we end up getting used to being alone, without even noticing this is happening."

Am I giving an impression of unremitting doom and gloom? It wasn't all like that. The bits that made me feel bad had that effect because they struck a chord with anxieties I already have about how best to help Amy engage with the world. Other bits I found quite comforting, like Naoki's insight on laughing. Noting that "sometimes people with autism...appear to be having enormous fun on their own, without any obvious reason for it" - yes, Amy often laughs on her own too (not to be confused with the crazy night-time laughing caused by gelastic seizures, which she occasionally has and which aren't one bit amusing for her or us) - he offers this explanation. I like it very much, and hope this might be how it is for Amy too.

"At times like this, we're having 'imaginings'. Or not quite imaginings, but we experience pictures or scenes in our minds that pop up out of nowhere. Maybe it's the memory of something that made us laugh, or maybe it's a page from a book we read."

What goes on in his head - and perhaps Amy's too - is taken up further in his description of 'flashback memories'. These may explain - perhaps - how Amy's memory works and why she is sometimes so upset for no reason that we can work out.

"We do remember what we did, when, where, who we did it with and things like this, but these memories are all scattershot and never connected in the right order. The trouble with scattered memories is that sometimes they replay themselves in my head as if they had only just taken place - and when this happens, the emotions I felt originally all come rushing back to me, like a sudden storm."

I could go on (and on). Naoki is very quotable, and I kept finding questions and answers that seemed to 'fit' - maybe, who knows - with Amy's experience of herself and the world. Why is she so keen on water ("In the water it's so quiet and I'm so free and happy there"), why does she like watching the same babyish TV programmes over and over again ("Not because of childishness, but because we can more easily guess what's going to happen next. This allows us to stay more relaxed and more engaged.") Even why does she keep doing 'that' with her hands: "The repetition doesn't come from our own free will. It's more like our brains keep sending out the same order, time and time again. Then, while we're repeating the action, we get to feel really good and incredibly comforted."

I think what Naoki is really trying to get across - and what I certainly took from his extraordinary book - is the essential 'person-hood', and inner world, of people like my daughter, who look so needy and problematic and dependent but who have huge inner strength. He reminds those of us who need to be reminded - I confess I sometimes do - that what we might have to deal with as parents pales beside what life requires of our children. It makes me admire and appreciate her more.