Door

Life led us through a different door. I say ‘led’, but it was more of a shove, and thinking about it, we didn’t walk, we plummeted. Life can be a sneaky bastard like that sometimes.

After the pain of a miscarriage, I'd felt this was our turn for things to work out to plan. My second pregnancy went well, and our daughter was born, and she was beautiful, but something had happened. She wasn’t perfect. She wasn’t ‘normal’. She was small, and floppy, and wouldn’t feed, and she had to stay in hospital in special care, and did I tell you she was beautiful, and she was terrifying, and there was this ticking time bomb in her. The door marked ‘New parents - bugger off home through here please and get on with everything pretty well much like everyone else does’ had seemingly slammed shut. 

Our daughter had been diagnosed with Prader-Willi Syndrome. A rare chromosome disorder, affecting roughly one in every 22,000 people in the UK. We’d been given a printout of the features of the condition. The disability. The ‘wrongness’. And we were lost.

Learning difficulties, weak muscles, poor co-ordination, immature development of sexual characteristics, short stature, an inability to control emotions, and - and this was the time bomb, that would kick in as she grew from a baby to a child - hunger. The switch in the brain that should tell her she was full up after eating would never work. She’d constantly be physically hungry but would at the same time have to eat less than others to remain healthy, as she’d need less calories because of her low energy expenditure. 

It was devastating. We didn’t know what to do. The information from the hospital was stark, medical, frightening. There was a black and white picture of a hugely overweight adult in a residential home and we couldn’t relate our scrap of a baby girl to this image. 

It’s 20 years on now. May is Prader-Willi Syndrome Awareness Month, and over the next few weeks I’m going to share some of our journey through the door that led into the dark. The dark where numbness turned to panic, to confusion, to anger, to rejection, to acceptance, to triumph, to disaster, to recovery, and to love.

The different door is miles and miles behind us now, and is coated with dust. But if I rubbed it with my sleeve, I’d notice what I missed the first time. There was a sign, after all, and it says: ‘You'll be OK'. 

It's been a bumpy ride, but we are.

We've been helped hugely over the years by the PWSA UK (Prader-Willi Syndrome UK) - an amazing charity who do tremendous work supporting people with PWS, their families, and professionals who work with them. To find out more about the condition and the charity click here and if you can spare a few quid then click on the Donate Now button on the right hand side of their home page.

Song is Steve Mason - To A Door

Love

This week is PWSA UK Awareness Week. The Prader-Willi Syndrome Association UK want to spread the word about the rare chromosome disorder. They want more people to know about the syndrome, in an effort to allow children and adults with PWS to be understood and accepted, and to make more people across the country aware of what the condition means for PWS people and their families, friends, and carers.

Love

I’ve spent the past week scribbling down facts and thoughts and feelings about Prader-Willi Syndrome. Trying to explain and yet only scratching the surface. (With PWS people’s tendency to skin-pick, maybe scratching the surface isn’t the best idiom).

I’ve said a bit about the causes, something about the characteristics, given you a taster of the food issues, explained the anxieties and emphasised the emotional aspects.

What I haven’t said enough about is love.

I used to pity the parents of disabled children. I used to look away, embarrassed,  frightened, guilty, ashamed.

I used to make snap judgements about the parents of children who were overweight, or kids who kicked off when it looked like they were old enough to ‘know better’.

I don’t like who I used to be.

I hear many parents of disabled children say they wouldn’t change their son or daughter for the world. 

I know what they mean, and yet at the same time a voice in my head screams: “Well, I would, of course I would, I would give anything to take away my girl’s PWS.” And that’s true, but I have to acknowledge that it has brought some things into our life that I am grateful for.

I’m grateful I got the chance to see her determination. I’m grateful I got the chance to appreciate the little things. I’m grateful I got the chance to realise how precarious the paths of our lives are, and how we shouldn’t waste it pursuing things that don’t matter. I’m grateful I get to love her. When I kiss my daughter tonight, like always, my head and my heart will be full of love, and that's down to her.

When I see a child or an adult with a disability in the street, I no longer avoid eye contact. I look at them, I smile, and whatever difficulties they might have I know one thing: they will have changed the lives of their family profoundly.

I don’t like who I used to be.

But I like who she’s made me be.

Video is Aretha Franklin - Baby, I Love You