Wednesday, 29 April 2020

Day Four

Today, I’m going to break down some of the characteristics of Prader-Willi Syndrome for you. With some pratting about, obviously.

If your reading device only shows you the first few words of a blog before you click on it, then you will have just read the phrase: ‘Today, I’m going to break down’. It’s always a possibility, of course, but don’t worry, I’m still standing. Or “I’m Dill Danding’, as Elton John inexplicably seemed to be singing on that ‘One World: Together In Our Enormous Celebrity Homes’ concert the other night. 

We’ll leave Mr Dwight Divving His Dife Like A Dandle In The Dind for now, and concentrate on one part of PWS that has one of the biggest effects: low muscle tone.

It’s actually called hypotonia (a word which always makes me picture someone manically feeding hundreds of sheets at breakneck speed into a photocopier, but then I’m an idiot).

It starts BEFORE birth, with Sunday-pub-football-level-instead-of-World-Cup-winning kicks in the womb. High numbers of PWS babies are in an abnormal position at delivery, needing assisted delivery or a cesarean (my girl needed the latter, which had one upside I enjoyed - amazing drugs). 

Then, as newborns, PWS babies are very weak, requiring special feeding and arousal techniques. (It’s a coincidence, because as an adult I also require special arousal techniques, but that’s a whole different thing...).

The low muscle tone has consequent motor developmental delays (this phrase makes me think of being stuck at a roundabout in my battered old Honda Jazz automatic cursing the ‘motor developmental delay’ of it having the pedal-to-the-metal acceleration of a roll-along lawnmower).

So a PWS baby might not sit up until they’re one. They might not walk until they’re two (my daughter was three and a half, but more widespread and earlier growth hormone treatment has brought the average age down since she was a tot).

And children with PWS continue to have problems with strength, co-ordination, and balance. They have delays in activities such as jumping, climbing, and catching. They also struggle with their fine motor skills of drawing and writing.

Physio and orthotics (specifically supportive shoes, splints, and braces) help. Complications, such as scoliosis, may require an operation. If you think you know what stress means, book your kid in for a spinal op or two and you will NEVER sweat the small stuff again.

This bastarding hypotonia is for life. Adaptive and modified physical education programmes are recommended to build and maintain strength, tone and function. That means I spend an inordinate amount of time trying to think of sneaky ways to get my daughter up off her arse and doing stuff without it seeming like exercise. It will not surprise you that we have a fit dog.

One interesting fact you might like to know is that my girl is on drugs favoured by bodybuilders - daily growth hormone injections. She has yet to express any desire to don swimwear, sheen herself up with baby oil, and clench her buns and guns. But, incidentally, that is what I ask my husband to do for me as one of my aforementioned special arousal techniques...

Song is British Sea Power - It Ended On An Oily Stage

As part of the 2.6 Challenge (which is asking people to fundraise and donate towards small charities that are threatened with closure because of the effects of the Covid-19 crisis) I'm currently writing 26 blogs in 26 days.The PWSA UK is a charity which is absolutely vital for people with PWS, their families, carers and professionals who work with them. Without urgent help, PWSA UK will fold. This charity saves lives and for some people makes lives worth living. If you can, please go to my Just Giving page. THANK YOU to everyone who has already donated - we've already broken the £500 mark, which is amazing! If you can spare just 26p, it would be help. £2.60 would be brilliant. If you donate £26, I'm offering sexual favours to be arranged when social distancing is relaxed, which may or may not involve baby oil. If this lockdown goes on for much longer we could possibly improvise with a rubber glove on the end of a broom. What the hell, it's for a good cause. 

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