"Where's Amy?"

It was Abby's birthday on Friday and I messed up. I wanted her to have a great day. And instead I made her cry. I sent Amy away.

That's how she saw it, anyway. I arranged for Amy to go to her shared care family for 24 hours, so that we could take Abby out for a grown-up dinner on her birthday and then have a party for her friends the next day. But as we said goodbye to Amy late on Friday afternoon - while she smiled happily to see the C family - Abby cried. She said she didn't want Amy to go: she wanted Amy to be with us, and to come to her party, and to see her friends.

It's so simple, from Abby's perspective. Amy's her sister, and she loves her. Amid many uncertainties in life, this is one certain thing. (We don't have many set-piece conversations about what Rett syndrome means long-term, but Abby seems to get it. She said the other day, quite matter-of-factly, "When we're grown up, Amy can come and live with me and my husband and children. Well, maybe some of the time...")

I want Amy to be involved too - of course I do. But from my perspective, it's not quite so simple. Involving Amy means more than just having her there. She doesn't always blend easily into busy social situations; she needs a calm environment; she quickly gets tired and grumpy; she's not usually happy to wait for things like eating. Looking after Amy makes it impossible to give Abby my full attention. And sometimes that's what I want to do. I want to have a day, or an evening, that's not designed purely around Amy's needs. I want to focus on Abby and on how grown-up she's getting and on what she's interested in. Yes - I want to feel normal, for a short time, and to let go of that feeling I usually have when I'm with Amy of being anxiety-makingly in charge of an unexploded grenade.

So I was prepared to explain to Abby why. She seemed to accept it after a few initial tears. But when it came time for her party, some of the kids - and parents - asked, "Where's Amy?" And I questioned, again, what I was doing and why. What kind of message did it send that Amy had been 'sent away', as if she was irretrievably 'other', as if joining in with what other kids do was unthinkable?

No easy answers. All I can say is that a few hours 'off' from Amy - not just from caring for her but from constantly thinking about what she needs - matters hugely, and helps me function better. And there are days when I don't feel like educating the world in general about inclusivity. Like I said, sometimes I just want to feel normal.

Do I talk to her enough?

It feels weird talking to a person who can't talk back. Chatting to your own child should be the easiest thing in the world, but Amy makes me feel oddly self-conscious. I think it's the way she looks at me: a mix of detached, baffled, knowing and couldn't-give-a-shit.

I try to remember that she needs to know all the same kind of stuff I'd talk to my 'typical' daughter about - what day it is, what we're doing, where we're going, who we're seeing, what we're having for lunch. I try to remember that she can't ask 'why' in that maddeningly incessant way that most kids do, and so I should tell her 'why' anyway. (Me: "Come on, Amy, let's put your shoes on... Because you can't go out without them... Yes, I know you can't walk, but your feet still need support... You might walk one day, and your feet need to be the right shape..." And so on.)

I try to make the same banal-and-slightly-bonkers parental observations to Amy that I'd have made to Abby at the same age: "Oh look - is that dog wearing a cardigan?" "Sheep!" "What a funny cloud - don't you think it looks a bit like Grandpa?"

But it's hard going when you don't get much of a response. It's hard to keep up the steady stream of chat when you're not helped along by an inquisitive small person asking questions. I often run out of steam with the kiddie-chat, and just make general observations to her about the weather, or the government, or what's going on with friends or family. Sometimes I tell her secrets. (And occasionally I wonder, paranoidly, what she might give me away on if she ever learns to talk.)

And sometimes I lose the ability to speak to her at all, because I'm so preoccupied, or irritated, or - yes - bored. I feel bad about that, just as I did when she was a baby and didn't show any signs of starting to talk. I was so anxious about her heart when she was tiny and I spent so much time counting her breaths or looking at her chest or wondering if she was going blue, that I often forgot to talk to her.

Consumed with tiredness and anxiety and depression in the months after her first birthday, I told myself that she wasn't talking because I didn't talk to her enough. And one of the reasons I didn't talk to her enough was because I put her in a forward-facing pushchair where we couldn't make constant eye-contact. (The logic of the tired maternal brain is not normal logic.) So I then spent a vast and unnecessary amount of money on a fancy new buggy where she could face me. Guess what, the new buggy didn't help her talk. (Although it did help me put a better face on the whole thing. No-one can be depressed while pushing a Bugaboo, right?)

But that's all in the past. It wasn't me, it was Rett. I still worry about the whole talking thing, though. She is the ultimate captive audience: it shouldn't be hard.

Seeing more clearly

Like many girls with Rett syndrome, Amy's eyes are her strongest feature. Not just because they're beautiful (although they are, aren't they?), but because they're so expressive. They're how she communicates - how she tells someone she's interested in them and wants them to stop and talk to her, how she tells us what she wants and who she loves. We have high hopes that, with the right support, she'll increasingly be able to use her eyes to tell us what she thinks about and what she knows.

So it feels like the final, exasperating straw that, with our hopes focused on her eyes as a communication tool, they don't work as well as they should. She has a persistent squint that comes and goes intermittently in both eyes, and she's long-sighted in her right eye. Corrective surgery isn't an option, the ophthalmologist tells me, because the angle of the squint varies so much.

It isn't a cosmetic issue, as I used to naively think. The fact that the left eye is stronger than the right means she over-uses it, and the squint makes the whole thing worse. The good news is that glasses help - when she wears them, her eyes work together and the squint is much less noticeable. The bad news - oh, you must know what I'm going to say - is that keeping her glasses on is next to impossible.

It feels like a cruel joke, putting glasses on a girl whose hands are in perpetual motion around her face. Even when she's relatively happy and calm, she rubs her eyes and pulls her ears. Those glasses don't stand a chance. She has the most resilient kind - they're on an elasticated band around her head, and the frames are flexible and apparently indestructible - so they don't break or get lost. But they don't stay on. At school and at home, keeping Amy's glasses on is pretty much a full-time, no-fun activity.

We had a review at the hospital eye clinic the other day. I'm quite good these days at being unemotional at appointments. But I found myself getting teary with disappointment and frustration when the ophthalmologist said that Amy needs her glasses and we can't just abandon them. I had so hoped he'd say that she could manage fine without, or that simple surgery could fix the problem. He was sympathetic but unyielding: if we don't find a way of getting Amy to wear her glasses, her eyes will deteriorate. I haven't been so depressed about her condition since the day we got her spinal brace. Does that sound ridiculous? I suspect it does - they're only glasses, after all, which lots of 'typical' kids have to wear too.

The only way to keep them in place is if she wears arm-braces all the time, making it impossible for her to reach them. (Even then, the fact that her head is nearly always resting against something wouldn't guarantee anything.) And while I'd hate her to be without the arm-braces that keep her hands out of her mouth, it doesn't feel right for her to wear them all day. It does raise a dilemma, though, about what matters more: having at least the possibility of normal hand-use by being able to bend her arms, or keeping the glasses in place. Writing that down, in light of the importance of eye-gaze for communication and the limited chance of her ever having much functional use of her hands (I'm being brutally realistic here), it seems more obvious and perhaps less of a dilemma than I assumed.

Teaching road safety. (For when she's cured.)

For an impatient person like me, the advantage of having a child in a wheelchair is that I can walk places as fast as I want. (As long as other people aren't in the way. Which they very often are.) I don't have to wait while a small dawdling person stops to examine every stone, leaf and insect along the way. And with Amy I've never felt the need to wait at pedestrian crossings until the green man appears, to set a good example.

Today, though, Ed and I were both out with Amy, while Abby was elsewhere. And when we had to cross the road, Ed waited - even though it was clear. When I questioned this, he said we had to teach Amy how to cross roads safely, just like any other child: "It would be a shame, wouldn't it - they find a cure and the first day she can walk, she gets hit by a car."

I can't decide whether this is (a) insane, (b) insanely optimistic, (c) prudent, or (d) as good a way as any of coping at this point.

Another possible diagnosis - and a surprising bit of hope

The Evelina Children’s Hospital keeps popping up on this month’s calendar. Amy and I are there every week this month for something or other. So a few days ago it was the ‘growth clinic’, which was a new one for us.

Hmm, it doesn’t sound appealing, does it. (Am I alone in hearing ‘growth clinic’ and picturing, well, growths?) Amy’s community paediatrician is concerned that she’s just too overall small for her age, even when Rett syndrome is taken into account. So we added endocrinology – unenthusiastically, on my part – to Amy’s list of medical specialties.

It didn’t start well. Amy had to be weighed and measured. This is a routine procedure in every outpatient appointment, but particularly relevant for this one – or so I naively assumed. Because she has so many hospital appointments, and because she’s kept under such conscientious review by the school nurse and other community-based professionals, her height and weight are recorded frequently. No matter – when you go to outpatients, they are only interested in what they see for themselves that day, regardless of how it relates to other information that’s been collected. But in our experience they’re pretty clunky at handling disabled children. So the nurse weighed Amy and informed me she was 18kg. “No, that’s wrong,” I replied. “She weighed 12.3kg a month ago, so she won’t be much more than that.” The nurse was all ready to have an argument with me about it. “Well, that’s what it says here, so she must be.” I didn’t know whether to laugh, cry or wither her with sarcasm. “Look at her,” I said, “does she LOOK like she’s 18kg?” The nurse said she wouldn’t know, it wasn’t her job to make assessments of that kind.

It got worse. She indicated that we were done with the weighing-and-measuring bit of the appointment, so I asked if she was going to measure Amy’s height. The nurse looked surprised: “But you said she couldn’t stand.” I asked if she thought Amy’s inability to stand meant that she didn’t have a height. So she made a very brief and half-hearted attempt to measure my little curled-up girly, and informed me that she was 3cm shorter than last month. My patience on these occasions starts thin and gets thinner – and all before we’ve even seen a doctor.

The doctor himself, when we finally got to see him after a lengthy wait (I suspect nursey of putting Amy’s file to the bottom of the clinic pile after our unfriendly encounter), began the conversation by asking why we were there. In the early days, when a new doctor asked that question, I thought it might be a communication tactic – a way of finding out how much the parent understands about what might be going on with their child. Now, I know better. Now, I know that they really do want to know why you’re there – because they haven’t read the referral letter, let alone any other information in your child’s notes.

In this case, Dr C hadn’t read so much as Amy’s date of birth, so he didn’t even know how old she was. (Relevant to this appointment, which was supposed to be to discuss her size in relation to her age.) He seemed intimidated by the size of her notes (a couple of feet high by now), and spent much of the consultation rifling through them distractedly looking for growth charts, genetics notes and other things. (An aside: shouldn’t it be possible to organise hospital notes for patients like Amy in a more user-friendly way? By specialty, for example, so it’s easy for busy doctors to find things like ‘genetics’ or ‘gastroenterology’ in the middle of an appointment? I realise not everyone loves filing as much as I do, but still, I think I’m onto something.)

But a proper conversation finally ensued. And now I find myself a bit less inclined to dismiss the possibility that Amy might have growth hormone deficiency (GHD), even if girls with Rett syndrome don’t usually have it. (Heck, girls with Rett don’t usually have congenital heart disease either.) Dr C explained that low levels of growth hormone have wider effects than simply making a child short for its age – it can also cause, yes, low muscle tone and, ha, ‘delay in gross motor skills’. Maybe the devastation Rett has caused for Amy is being helped along by another underlying factor?

Testing for GHD is a lot more complicated than I thought. Wouldn’t you know it. But before deciding whether to do a full test, Dr C wants to measure Amy’s ‘bone age’ – done by an x-ray of her hand and wrist. And he wants a blood test to measure Amy’s levels of insulin-like growth hormone-1 (IGF-1). IGF-1 is the ‘middle man’ in the growth process – the link between growth hormone in the blood and the machinery inside cells that causes growth. Hang on, I said. IGF-1? The hormone they’re giving girls with Rett syndrome in the US trial, to see if it helps neurons connect properly? The one that appears to be lessening the symptoms of Rett in girls in the trial? AMY COULD HAVE THAT??

I knew I was jumping multiple steps ahead of myself, but I just couldn’t help it. Dr C’s first response was to say: “Do you know how much it COSTS? We can’t just GIVE it!” But the IGF-1 test will give him an indication of whether this is worth pursuing, or a blind alley.

The next step is the blood test. I could have taken Amy for it straight away, but I bottled it – the day was generally going well and I couldn’t face ruining it with a trip to phlebotomy. I need a few days to psyche myself up for a thing like that. So we’ll do it when we’re in for Amy’s next appointment on Thursday (eye clinic). And then we’ll see Dr C again at the end of next month to discuss the results.

In which I discover she's a weasel

It's not a secret that I find Amy, shall we say, hard to manage at times. Usually at the end of the day, in the run-up to dinner-time, when I never seem to have enough hands for everything that needs doing simultaneously. Or when I have to take her with me to collect her big sister from various after-school activities at the point when Amy's hungry, tired and past the point of simply having had enough for one day.

So when social services assessed us and deemed us to be in need of four hours of support per week, I concluded that the most useful way to use these hours would be to find someone to help me out in that stressful after-school period. I dithered pointlessly for months over how to go about finding the right sort of person, before finally concluding that what I probably needed was a student, and preferably a student who had a particular interest in complicated children like Amy. I got in touch with the head of occupational therapy courses at one of our local universities, and found she was keen to help me spread the word. This is what the ad said:

"Do you have an interest in children with disabilities and a few hours to spare in south London each week? I need an extra pair of hands to help me manage family life with my four-year-old daughter. Cute but challenging, Amy has Rett syndrome and needs a lot of care, attention and the right kind of stimulation..."

I'm particularly keen on the 'cute but challenging' bit - doesn't that just sum the whole thing up? Anyway, it worked: that's how we found L, who's been working with us for a couple of weeks and has saved my sanity on a couple of particularly hard-pressed days each week. So far it's just as I hoped: she's able to take over all the Amy-tasks and keep her amused too.

The interesting part is how much Amy seems to have taken to her, and how Amy's behaviour clearly varies depending on who she's with. I've noticed that before, but it's really blatant now: Amy saves the worst of her yelling for me. With L, she's full of smiles and charm at the novelty of the whole thing. She doesn't even screech when L straps her into her chair for dinner, and her eyes follow L everywhere.

So that answers one of my persistent questions, on whether screaming is something she has some control over. Clearly she does, at least some of the time. She's as capable as any other small weaselly girl of being delightful when she thinks it's in her interests. But I'm so thrilled she likes L that I am prepared to overlook it.

An eye-gaze conundrum

Girls with Rett syndrome communicate with their eyes. They don't need technology to do this: Amy can look at something she likes and wants (an Easter egg, for example), or she can look away from something that doesn't appeal to her (such as the hairbrush). But that's only scratching the surface of communication: I know that small girls generally like chocolate and are less keen on having knots and tangles brushed out of their hair. What I'd really like to know is what she thinks of her teachers and class-mates, or what kind of clothes she'd most like to wear, or which is her favourite park. (Or whether we've got it completely wrong about some of the things we're convinced she likes or doesn't like.)

Eye-gaze technology makes it possible to find out the answer to these sorts of questions, and many more besides. We're very lucky to be living with Rett syndrome in an era when technology is developing in ways that makes it increasingly possible for girls to communicate 'proper' stuff. But how to get access to it, in the right way and at the right time for Amy?


She had an assistive technology assessment last week, requested by her school and her speech and language therapist. This seemed like a big deal to me, as we'd waited for it for a while - and I was slightly beside myself when Amy woke up unfeasibly early that morning and was all but asleep at school when the time came for her to sit up and pay attention and show what she could do.


Nonetheless, even half asleep, Amy's good at focusing, interested in computer screens and shows every sign of 'getting' what she's supposed to do when presented with a screen and a range of options. She uses a switch pretty well - but switching is physically harder than looking, and the outcomes and rewards are more limited. Access to eye-gaze devices in our area is 'managed' by a regional organisation that does assessments of individual children, and offers devices on extended loan for trial periods. So they have agreed to put Amy on the waiting list for a trial - but it's unclear how long the waiting list might be. 


I'm frustrated at the 'box-ticky' approach they take though. They want Amy to demonstrate to their complete satisfaction that she can do a whole list of things with switches, pictures, and so on before they move on to eye-gaze. And Amy's own speech therapist stunned me by stating categorically in the middle of the assessment that she's 'not developmentally ready for yes and no'. Which is simply wrong - Amy can communicate if she wants something and if she doesn't. What is that, if not yes and no? The point I find myself trying to get across - based on the best evidence on Rett syndrome and eye-gaze - is that if she had access to eye-gaze she could show us what she knows and what she can do. But their approach seems to be to try to get her to 'prove it' in other ways first.


I feel like I'm walking a fine line between fighting for Amy not to be under-estimated and getting hopelessly carried away - too far, too soon. I need to find a balance between believing in Amy, marshalling the evidence on eye-gaze and making the best use of everything we've already got (and I know we could definitely be doing more with the iPad and switches). I worry that I'm displacing other stuff I could be doing now for more exciting stuff that other people could be helping us do. But seeing what children like Amy can do with computers that help them 'talk' is irresistible - I really want to see what she would do with it and how that would make her feel.