Tuesday, 12 May 2015


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.


When you’re the parent of a child with a rare chromosome disorder, you do a lot of explaining.

I’ve gone through this conversation with hundreds of people in the 16 years since my daughter was born, and, as it’s Awareness Week, I’m going to have The Informal Informative Chat with you today.

Prader-Willi Syndrome is a complex condition, named after the Austrian paediatricians who first described it in 1956. (Incidentally, the name has caused confusion in my house, summarised neatly by the time my son asked me why his sister has ‘Prouder Willy Syndrome’ if she's a girl).

I normally simplify PWS when I explain it to people, by saying the part of my daughter’s brain which controls her appetite doesn’t work properly. I tell them she has to have a restricted diet because - despite always feeling physically hungry - her body needs less calories than usual to remain at a normal, healthy weight. I then add that she can get very anxious, has learning difficulties and finds it hard to understand and deal with her emotions.

That’s my quick guide to it: people don’t necessarily need to know more. I don’t always go from the shortlist to the longlist, like a Booker Prize judge, but you're here, you've read this far, so here it is - the Full Monty version of PWS characteristics:

  • Excessive appetite and overeating, almost certainly stemming from a hypothalmic disfunction; the message that the person had had enough to eat is not getting through
  • Food-seeking and stealing
  • Decreased calorific requirement owing to low energy expenditure
  • Life-threatening levels of obesity if not strictly controlled
  • Weak muscle tone and floppiness at birth often resulting in a failure to thrive, poor feeding, and the need for physiotherapy
  • Short stature
  • Immature sexual development
  • Learning disability
  • Poor emotional and social development
  • Poor temperature control
  • Skin-picking
  • Obsessiveness and a tendency to repeat questions 
  • Stubbornness
  • Greater chance of developing mental health problems, including psychosis

This is, admittedly quite depressing. You know the phrase ‘bucket list’, well I think of this list as a ‘fuck-it list’, if you’ll pardon my Anglo Saxon, but really, honestly: fuck it.

Some people with PWS and their families have had to deal with every single one of these characteristics (and more). Usually, people with PWS have a selection of these, at differing levels of seriousness. My daughter scores high on a fair few, lower on some, and even dodges a few.

Awareness of all this is a good thing. But you also need to be aware of the Other List. 

My daughter has PWS. And her characteristics are:

  • A sweet personality
  • The ability to charm everyone she meets
  • Olympic level chat
  • Determination
  • A love of books and reading
  • The memory of an elephant
  • The magical ability to glow when praised
  • Extraordinary patience with her brother
  • Seeing the world with wonder
  • High hand-holding tolerance
  • Cheekiness
  • A sense of humour
  • Giggle-skills
  • Exceeding every expectation
  • The capacity to amaze me everyday

Now that’s what you call a list.

Video is The Roll-Off Characteristics (Of History In The Making)

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