Monday, 29 February 2016


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

1 comment:

  1. Yes! So true of all children, but truer of the wonky ones.