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

Independence

I’m in training. Not for a marathon - I did a half marathon years ago and cemented my belief that there is absolutely no need to run a step further in a world where public transport is available.

No, the regime I’ve adopted is mental, not physical. And my brain-training doesn’t involve forward motion; it’s about deliberately, consciously, taking a step back.

It’s in response to a talk given by my daughter's teacher, Mrs D. My girl, who is now 17, is at a special school satellite class at a mainstream school. She’s adapted well to some of the changes that come with being a sixth-former, after initially finding the timetable tiring. 

“We’re usually up on our feet, walking to the town to go shopping, working on the farm, or catching the bus to college or work experience,” Mrs D explained. “And what we’re really working hard on is independence.”

Now, independence is a frightening word. We all know that people with PWS have hugely varying capabilities, but that supervision around food is almost always required. So the idea of independence always comes with alarm bells and caveats and provisos. But Mrs D’s talk got me thinking - hard - about how we as parents can be too protective. She urged us not to do things for our children, but instead to help them gain the skills, where possible, to do things for themselves.

“I know it’s quicker and usually easier and tidier for you to do it,” she said. “But try to think about what they could do that you automatically do for them, unthinkingly, and perhaps unnecessarily. And then - change your habits!”

So I am. I’m trying. (Very trying, according to my husband). I’m involving my daughter more in doing things around the house. I’m involving her more in choosing, buying and preparing food (I know this isn’t an option for many PWS people). I’m even working on a plan which will allow her to walk a short distance to school on her own *breaks out into a sweat, forgets to breathe, sits down until dizziness subsides*. It’s hard to overcome my instincts, they’ve become so entrenched over the years. But I think it’ll be worth it. And if it means we start getting Kevin The Teenager-style “It’s so unfair!” complaints when she moans about having to tidy her bedroom, then so be it. 

Actually, her bedroom is way tidier than mine. That’s one part of the independence regime that I’m going to excel at - as soon as Mrs D said: “I know we all like our houses to be perfect and tidy, but you should try to let them help more and let go of perfection,” I had to stifle a guffaw. Me and perfection let go of eachother a very long time ago. If I’m honest, we were never even nodding acquaintances. 

So, this is good. Seeing my girl do things for herself that I never imagined she’d be able to is heart-stoppingly, head-swimmingly amazing. It makes me proud in the best sense - not preening, but smiling. A warm-like-a-hug-style pride. 

And, as an added bonus, I can pretend that working on improving my daughter’s independence is all about her, when in fact there is one big advantage for me: I now have a great excuse for the state of my house.

Song is The Tears - Imperfection

This post first appeared in the latest edition of PWS News, the newsletter of the Prader-Willi Syndrome Association UK. They have a very informative website here.

Cumulative

I’ve never worn ribbons in my hair, or displayed a penchant for gingham dresses. I also swear like a trouper, so you may be surprised when I say that I consider myself to be a bit of a Pollyanna. But that thing the eponymous heroine of the Pollyanna stories has - about seeing the good side of a situation - I’ve got that. It’s part of my nature to scramble to find something funny in even the worst of times, and it’s my bleedin’ superpower, I tell you.

All superpowers falter, though. Kryptonite weakened Superman; becoming a floppy-fringed, disco-dancing Emo boy turned Spiderman into an idiot (Sam Raimi, what were you thinking?); and this week there has been a concerted attack on my Superpollyannaness.

It’s not been one thing. It wasn’t an alien mineral-powered laser cannon expertly aimed at me by my nemesis. It’s cumulative crap.

It’s the fourth working day of my husband’s four on, four off shifts (a time when the end of my tether is a familiar sight).

My boy has not only been testing the boundaries, he’s been climbing up the boundary walls, jumping up and down on them whilst moonying, and then leaping so far over the boundaries I need a pair of binoculars to spot him. (The moonying is a metaphor, although he does have real world form in this area).

My girl’s anxieties have been at full frazzle setting: the doctors still haven’t had their meeting to decide whether her back op will go ahead; a reading comprehension test at school has set off a million questions; and to top it all, she’s perfected a brand new addition to the list of things she repeats over and over and over and over again. (I’ll tell you about that one another day, when I get my mojo back).

Finally, marvellously, after 30 odd years of pretty much pain-free menstruating (*sounds ‘wimmins things’ klaxon*), I seem to have suddenly developed awful lower-back ache and atrocious stomach cramps to go with the whole bleedin’ bleeding kerfuffle. The wince-inducing, teeth-gritting, doubled-up in pain-causing, impossible to sleep kind of stomach cramps.

Bah!, grrr! and, indeed, ow! 

*retires to bed with a hot water bottle*

Video is The Cramps - Bikini Girls With Machine Guns

Interim

"Well, I was playing the clarinet, the phone rang, I jumped, and..."
My daughter's interesting interior.

I have a new favourite person.

It doesn’t take much for someone to get into my good books. Cake and alcohol usually works, although a new abstemious regime for 2016 means other ways are now needed to win my heart.

My new love is one of the back specialists at the Royal Orthopaedic Hospital, in Stanmore, and he wooed me with his words. Or more specifically, the words he used when he talked to my daughter, after she walked into her consultant appointment yesterday to discover he was a different doctor to the one she was expecting, and began to gently lose the plot.

This chap immediately ignored me, and talked directly to my girl, explaining how he was on the same team as her usual doctor, who he’d be working very closely with. Over the course of several minutes, in a calm, simple, and non-patronising manner - and without any prompting from me - he talked her down.

One of the offenders (left hand bolt)

He then explained to us both and showed us on the computer screen exactly what was going on with her back, answered my questions, answered her slightly more random questions, soothed her anxiety a few more times, and most importantly gave us both his full attention, respect and time.

For the first time I could properly see and understand how some bolts anchoring the titanium rods that helped her spine fuse in a straightened position eight years ago are pressing against the ‘membrane’ which protects the spinal cord. That’s what’s causing pain, and that’s why they need to be removed.

As I suspected (gggrrrrr!), the results of the SPECT scan (carried out a a different hospital a few days before) weren’t yet in, but my new best friend told us that he’d be surprised if they showed anything that could be behind my daughter’s discomfort.

“So, I'm going to tell you what will happen now,” he said, again addressing my girl, who returned his gaze solemnly. 

He broke his explanation down into short sentences, pausing between each to check if she'd taken things in:

“I think before very long we will be sorting out this operation for you."
Pause...nod.
"I know you were supposed to have it before and our plans changed, so I'm sorry about that."
Pause...nod.
"I cannot say yet that you will DEFINITELY have the op, which I know you would like me to."
Pause...nod.
"But don’t worry - your mum will be able to call us when the scans come in."
Pause...nod.
"And after we’ve had a special meeting all about you, we can tell you what will happen."
Pause...nod.

"We’ll do that as soon as we can."
Pause...nod.
“And you need to know that your spine has fused so well that you will stay lovely and straight if we take the metal out.”
Pause...nod.

And then the killer finish.

“You don’t need to worry. I know it’s hard, but will you try?”

She gave her biggest, most forceful nod.

It wasn't the black and white decision she needed. But it was a damn fine interim explanation.

We both shook his hand as we left. I was this close to kissing him. 

Song is Frankie Beverly & The Butlers - She Tried To Kiss Me