Mishappiness

My daughter’s school holiday sleepover tradition with her PWSBFF (Prader-Willi Syndrome Best Friend Forever) was upheld this week.

First, we had a girly trip to the cinema to watch a special screening of the recent stage adaptation of The Railway Children. 

A meal at Prezzo followed the steamy, red bloomer-flagging action (perhaps I should re-phrase that, as it sounds slightly dubious). Light menu choices were chosen, pasta and salad dishes were hoovered up hard enough to strip off plate enamel, and beaming faces beamed back at me across the restaurant table.

But it was an incident that occured when we all got back into the car which stuck with me, and made me smile.

PWSBFF managed somehow to shut her leg in the door (not to any serious degree, I hasten to add, and this isn’t, of course, what made me smile. What do you take me for?). 

Clutching her shin, she let out some yelps, ows and ouches.

My daughter’s first response to the mini drama was this: “I hope you’re not going to keep me awake tonight.”  

“Er, excuse me,” I pointed out. “Don’t you think you ought to ask if she’s OK first?”

My girl looked at me with incomprehension. PWSBFF giggled. I explained: “Sweetheart, when your friend hurts yourself, the first thing you should think of is to check she’s OK, not if she’s going to be noisy later!” 

PWSBFF took up my tone of admonishment: “Yes, I thought you were supposed to be my friend!”

My girl looked stricken. “You are still my friend, aren’t you?”

PWSBFF giggled again. “Yes, of course I am!”

My daughter blew all the air out of her cheeks with relief. “THANK GOD!”

There was a slight pause.

“But she’s not going to keep me awake, is she?”

Music is Vic Mars - Fences, Railway Lines And Other Obstacles

Decolonisation

We headed back from the hospital.

In the boot was a bag of scrubs and ointments that have to be administered to various parts of my daughter’s body in the five days leading up to her upcoming operation. The lotions and potions are to rub on her hair and skin, stick up her nose, and swill down her throat, all to minimise the risk of her developing an infection after her back surgery. They came with an explanatory booklet with the catchy title: 'A Patients’ Guide To Staphyloccuus Aureus Decolonisation', which sounds like something Douglas Adams and Philip K Dick would have come up with if they’d written a novel together.

My girl’s pre-op assessment was complete. She’d been weighed, measured, had her bloodpressure done, had nasal and groin swabs taken (yuk!) and is now, officially, paperworked up to the eyeballs.

The ever elusive date is still to materialise, but the vague timetable has shifted from 'May/early June' to 'possibly April'.

My daughter panicked when the nurse said this. “April? It won’t be on the 13th, will it, Mum? Because we’ve got travel training at school that day.” (Travel training is where her teaching assistant takes her out to improve her road sense, trying to teach her how to safely cross roads, and how to catch a bus etc.).

“Sweetheart, you can do travel training any time - you do it every week, don’t you?”

“Yes, but I don’t want to miss the 13th. I DO NOT WANT TO MISS IT.”

“Right, I’ll speak to school and if the op does clash with it, they will promise to do it another day with you so you don’t miss out, OK.”

“Yes.”

“Are you happy with that?”

“Yes. As long as the op isn’t on the 13th.”

“Right. Remember, they’ve only said April - it could be any day in April. We just don’t know until we get a date, so there’s no point in worrying.”

“Ah, OK. Any day. Just not the 13th.”

Later, much later, when we were home, and the circular conversation had run its course, my girl headed for our TIVO box, and searched out her treasured saved programme folder of Topsy and Tim episodes.

“I’m watching the one where Topsy has her appendix out,” she told me, solemnly. “It’s like practice for me about being in hospital.”

She’s practised about a dozen times so far. Topsy and Tim are intensely irritating little shits, aren't they? Still, it could be worse. It could be Patch Adams.

Song is Jill Scott - Prepared

Teeter

My face. Teetering.

We have the go-ahead. My daughter will have an operation to remove her spinal metal work. 

It’s more than three months since her op was cancelled with just three days notice. It’s more than 10 weeks since she had a scan which would prove whether she definitely needed the procedure or not - but which no-one would tell us the outcome of. It’s been long enough for my girl to rack up astronomical repeat numbers for the question: “Will I have the operation?” It’s way past breaking point for me, after scores of phone calls trying to get someone, anyone, at the hospital to tell me what was happening.

At first I waited politely. Then I started phoning. Again and again. Again and again I was promised someone would phone me back. Again and again they didn’t. When the consultant’s secretary and I were frankly getting sick of the sound of eachother’s voices, I contacted PALS (the Patient Advice and Liaison Service) to ask them to get answers on my behalf. Again and again the answers didn’t come. I pestered. I really pestered.

Do you know what finally worked? There was a moment, when I was leaving yet another message on another answering machine, where I was recounting the sequence of events yet again, when I got to my teeter point. (Not the moment when I go all wobbly after to much wine, that’s different). No, this particular teeter point is when I’m having a difficult conversation (in this case to a machine, but hey, it was still intense), and when I feel myself getting a bit emotional. What I normally do is take a deep breath, make a decision to rein in the inner tumult and pull myself together. But not this time. This time, a little voice in my head whispered: “Fuck it. Let it go.” You know, like some sort of X-rated version of Frozen.

So that’s what I did. I didn’t stop my voice from breaking. I didn’t stop the tears from coming. I didn’t stop the anger from rising. I pleaded, I cried and I seethed, and it worked. A day later I got my answer.

It will be May, or early June. My girl is having a pre-op appointment this Thursday, which I snapped up before even hearing the time and working out the logistics of sibling school runs and early morning traffic and other extraneous bollocks. Nope, I was taking up the first appointment they offered, because that would mean she’d be ready to roll when a date comes up. 

We have the go-ahead. Finally. We don't have an actual date, but we have a ballpark and the ball is in it.

Oh, and I have something else. It's a recommendation to any parent lost in the labyrinth of NHS admin: Whatever you do, check, double check, triple check, pester, pester some more, pester again, keep on pestering, and sometimes, just sometimes, when you’re teetering, don’t step back from the edge - jump right off.

Song is Let It Go. No, not *that* one.

Rare

Today is Rare Disease Day. It’s a day designed to raise awareness amongst the general public and decision-makers about rare diseases and their impact on people’s lives. So don’t worry, you don’t have to do a mad dash down to Clinton’s - I’m not expecting a card.

I’m the parent of a child with a rare disease. Although I hate the word disease. Disorder isn’t much better. Condition is OK, but it’s all fannying about, because there is something ‘wrong’ with my daughter that doesn’t go wrong very often, and there’s no nice way of couching it.

So, yes, she has a rare disease. According to the Rare Disease Day people, these are the salient points:

• Rare diseases affect fewer than one in 2,000 of the population.
• 80% of such diseases have genetic origins (whilst others are the result of infections, allergies and environmental causes).
• Initial misdiagnosis is common
• Rare diseases often have no existing cures
• 30% of rare disease patients will die before they are five years old.

That’s a slam-dunking, gets worse as it goes along, heart-stopping kind of list, isn’t it? I look at it and I wonder how I would have coped if my girl had ticked that last category. Her very existence would have been snuffed out long ago and I can’t comprehend the horror of that, the horror of what some people have to face. So when I say I’m the parent of a child with a rare disease, I’m one of the ones who’s had it easy, all things considered.

Her name is Josie. She’s 17. She has Prader-Willi Syndrome, a rare chromosome disorder which affects the part of the brain which controls appetite, growth, and sexual development. Weak and floppy as a baby, with poor muscle tone, she grew to develop an obsession with food and because of the way her body and brain works, never physically feels full up. But her body can’t convert fat to muscle as efficiently as a non-PWS person, so she has be on a strict diet, for life. If her food intake wasn’t strictly controlled, she’d be obese. If it wasn’t controlled at all, she’d probably die. She has learning difficulties. She’s obsessional. She’ll never have kids. She’s unlikely ever to be able to live an independent life.

Lists are a bummer. But here’s another.

She’s beautiful. She’s funny. She’s stubborn as hell. She’s innocent. She’s sweet. She’s kind. She’s my girl and she’s that rare, that very rare, thing: a surprise that seemed like a nightmare at first, but turns out to be a great dream. The slightly off-kilter, spaced-out kind of dream you might have if you eat too much cheese or drink too much wine before bed, but, still, a great dream. The ‘I wasn’t expecting THAT’ kind of dream - but one that you’re glad you get the chance to dream every night. 

I dreamed of a beautiful child and I got one. She just happened to come with a rare disease, too.

Video is Tindersticks (featuring Savages' Jehnny Beth) - We Are Dreamers

Knees

I found out something amazing today.

A friend’s son was due to come round to see us. He’s in his 20s, and has Asperger’s, and it’s quite fun listening to his conversations with my daughter. Their respective conditions mean they both have an idiosyncratic way of chatting and interacting. Josh is also a whiz on computer games, so my son was looking forward to having a PS3 session with him.

However, Josh’s plans changed: he texted us to say he was seeing his girlfriend. Unusually, my girl, was quite blasé about this. “Well, if he’s seeing his girlfriend he’ll have to come another day.” My mouth dropped open with astonishment (it’s rare that my girl is insouciant about a change of plans - frantic or distraught is more usual response). But my boy - at the age when he can’t imagine why anyone would choose a girlfriend over Lego Marvel Superheroes - was a bit confused.

“Why didn’t he come?” he asked.

“Well, he did something else instead. Yes, you were a bit disappointed, but you’ve got to remember, Josh has special needs, like your sister.”

I got the glare.

“He does not. He does not have special needs. He can walk really fast.”

“What’s walking got to do with it?”

“You said he’s got special needs.”

It was at this point, that I realised I was mishearing my son, and my son was mishearing me. What he was actually saying was “special knees.”

All this time, all these years that we’ve been saying that the reason his sister can’t run and climb as well as him, and that her muscles aren’t as strong as his, he thought it was because of her special KNEES.

Oh my giddy aunt. Oh my special knees.

Song is Low - To Our Knees

Mirror

I was picking up my daughter’s Prader-Willi Syndrome Best Friend Forever (PWSBFF) for the now traditional school holiday sleepover. We were staying for lunch before bringing both the girls back to ours for the night.

Me and PWSBFF’s mum share a lot of experiences. We swap the kind of tales that always end in: “Yes! That’s exactly what I have to do!” My favourite exchange during the latest handover was when I mentioned my girl having a scab on her chin from where she’d picked a spot. (Skin-picking can be an issue with many PWS children). 

“Yep, I walked into her room, and there was blood all over the pillow,” I told my doppleganger friend. Recognition flashed in her eyes. “Oh God, yes,” she replied,  “I usually take a deep breath before I open the bedroom door, and wonder what carnage awaits.”* [*Yes, I made a T-shirt out of that (see picture). What of it?].

From behind us, there was a sound. It was the little rip of yoghurt pots being opened. Our daughters were either side of the kitchen table, unpeeling their puddings in perfect unison. Like mirror images of eachother, the teenagers methodically licked every micro-millimetre of yoghurt from the foil-backed lids, like an Activia-sponsored synchronised eating team.

Later that evening, the girls were opposite me in Pizza Express, working their way through their salad-filled pizzas. We’d ordered like Sally from 'When Harry Met Sally' (no, not that bit, you perv, the bits where she’s fussy about food). “She’ll have the leggera pollo ad astra with extra peppadew peppers, and she’ll have the same, only can you add some jalapeño peppers to hers, and can we not have any dressing on the salad, and then a leggera lemon sorbet for dessert, only served in two bowls, with one scoop in each...”

The waiter didn’t blink. I did, when I saw the price after realising I’d forgotten my discount vouchers. 

Still, if I’m honest, I’d probably pay double to watch them lovingly consume their extra-peppery, less-than-500-calorie feasts. They did that mirror-image thing again, chewing in unison, ecstatically, unabashedly happy. 

I think I may have mirrored them, too.

Song is Cate Le Bon - Mirror Me

Mantra

They breed, you know. My daughter's tried-and-tested, repetitive mantras suddenly beget new ones. But brand new perseverating question and answer riffs aren't always the genetic offspring of previous obsessions - sometimes they arrive like random cuckoos in the nest. Needing a new home. Needing my daughter to mould them, repeat them, mould them some more, and repeat and repeat and repeat until they’re part of our daily life.

This one, I sense, is going to stick around.

“Mummy, I’m overweight, aren’t I?”
“No, sweetheart, you’re not, you’re just right.”

“I’m overweight. My tummy’s too big.”

“No, it’s not. It’s just that you’ve only just had your tea, so it’s a bit full at the minute, so it sticks out more, but then it goes down, and you’re just right again.”

“Oh.”

“Everyone’s tummy does that.”

“I’m not as overweight as you, am I?”

“No, you’re not.”

“My tummy isn’t as fat as yours, is it?”

“No. Your tummy isn’t as fat as mine.”

I feel like I should point something out. She opens her eyes wide, waiting. I think she recognises the scrunched-up, bulldog expression on my face. The one I make when I’m really thinking hard about the best way to explain things.

“Er...sweetheart, don’t say that to other people, please, because it’s a little bit rude.”

“Oh. OK. Why?”

“Well, some people might feel a bit sad that they are overweight and it might upset them if you go on about it.”

“Oh. OK.”

She gives me her own scrunched-up expression. It’s the face she makes when she kind of realises she probably should stop now, but she just can’t. 

“Mummy, I’m overweight, aren’t I?”

I’ll give her three goes. Three repetitions, before I do a Big Daddy splash on her. With my big fat belly.

Video is Hot Chip - Over And Over