Wednesday, 1 May 2019


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

1 comment:

  1. Keep on keeping on.

    And eight years since you started writing this blog (I just sneaked a look over to the right margin). Must be time for another blog meet...