Sunday, 1 June 2014


You’ve heard of Gallup Polls? Well, my daughter is slowly perfecting her own similar method of gathering data. Mind you, with her day-dreamy, meandering walk, it’s not so much a Gallup as a Lollop.

We’ve been attending a few PWS events lately, organised by parents, volunteers, or staff from the Prader-Willi Syndrome Association UK. And my girl’s Lollop Polls are stepping up a gear.

The questions at today’s sunny, sociable PWS picnic at Coram's Fields in Central London, weren’t just the usual “What’s your name?”, “Have you got Prader-Willi?”, “How old are you?” and the slightly random “How many teeth do you have?”. Oh no, a new, astonishingly scientifically accurate, belter of a question has been added to the repertoire...

[Before I repeat it for you, I should check if you’re familiar with the genetic doobriewotsits of PWS. Wrap your noggin around this explanation:

Three PWS girls, and Trevor (Professional Photobomber)
PWS is caused by a baby not receiving active paternal genes from a specific part of one chromosome (chromosome 15). Around 70% of all cases of PWS are caused by a deletion, which means a tiny part of chromosome 15 inherited from the father is missing. Around 25% of cases are caused by maternal uniparental disomy (UPD), which means that instead of taking one copy of chromosome 15 from their dad and one from their mum, the child has ended up with two maternal copies. The remaining 5% of cases are caused by an imprinting defect.

OK? So far, so clear? I’ll let you into a little secret, I wasn’t aware of the third cause, the imprinting defect one. (It sounds a bit like the daily battle I have with my Canon inkjet, to be honest). Consequently, my daughter hasn’t heard of this either, so it didn’t figure in today’s super duper question. If it’s OK with you, let’s not mention it to her. I’d feel a bit like the confused cardinal from the Spanish Inquisition: “The chief cause is deletion...and UPD...the TWO causes are deletion and UPD....and imprinting defect...the THREE causes are deletion, UPD, and imprinting defect....AMONGST the causes are...I’ll come in again shall I?” ]

Her question to PWS children today (or to their parents to answer on their behalf) was this: “Have you got the Prader-Willi where it’s a little bit missing from the chromosome like me, or have you got the rarer one where its a double one from your mummy?”

That’s a cracking query, isn’t it? (The results of the poll were pretty much in line with the statistics mentioned above, by the way). She’s been quizzing her dad about PWS and its causes lately, and to be fair to him, he sounds like he came up with a simplified summary that the bird from Nina And The Neurons would be proud of. Thinking about it, he does take a rather special ‘one for the dads’-type interest in Nina. Mr Drake, if you’re reading this, no, it would not be an anniversary treat if you buy me a lab coat, tell me to put on a Scottish accent, and inform me of a perplexing problem that can only be fixed by me using my sense of touch.* (*I realise this makes little or no sense to non CBeebies viewers, because you have a life).

Where was I? Oh yes, the picnic. So I was proud of my daughter today. Coping with train delays. Asking her questions. Shyly answering other people’s questions. Holding a lovely PWS baby boy, who we kidnapped and held cuddle hostage until he had to be prised from our arms (see photo, top right)

And the good news is, we’ve got not one but two more PWS get-togethers this month: a picnic in a park in Manchester, which is nicely timed to coincide with a visit to relatives oop north, and a party in a Mormon church hall in Enfield where in order not to offend the Salt Lake City brethren we can’t drink tea or coffee because they think caffeine is the seed of the devil, or sumfink like that. I am, of course, planning to mainline Red Bull before I go.

Song is Black Heat - Questions And Conclusions

Click here for full details of the PWS family events in June

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