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