Saturday, 9 May 2020

Day Fourteen


Today I want to talk about incomplete sexual development. No it’s not the answer to ‘Why do men buy sports cars?’ or ‘What could he possibly be over-compensating for by holding a large snake in his Tinder profile?’

No, I want to talk about it being one of the characteristics of Prader-Willi Syndrome. Sexual development in PWS is affected by the diminished or disrupted production of sex hormones. It’s called hypogonadism (the failure of the gonads to function properly - specifically the testes in men and ovaries in women). 

Firstly, I challenge you to say gonads without sniggering. Secondly, if you’re female - did you have ANY idea you have gonads? You live and learn, don’t you, Gonad Girl! *sniggers*.

So what does it effectively mean for someone with PWS? 

Boys typically need an op for undescended testes, and both boys and girls usually have delayed and/or incomplete puberty. Confusingly, they often go through premature pubarche (development of pubic hair) earlier than the average, caused by something called adrenarche (these words, man, so many words), which isn’t actual puberty (just the stuff like hairy bits, oily skin etc. Hairy bits isn’t one of those official medical terms, in case you were wondering). So that’s helpful, when you’ve tried to explain carefully to your child that they might not go through all of the same changes as their peers so, apart from that one that they already have gone through but isn’t actually what it looks like. Clear? Good, I’m glad someone is.

Testosterone treatment for boys and oestrogen therapy for girls can be used to bring on puberty (either to induce it, or to kickstart and maintain it when it stalls). 

For my daughter it involves taking an oestrogen pill, which finally brought on her periods at the grand age of 20. This is been an...interesting...development to deal with, not least because of the fact that her periods, although quite regular don’t start EXACTLY 28 days apart. And she does like to know EXACTLY when things will happen.

One thing that is extremely unlikely to happen, however, is related to fertility. My girl will be unable to have children. I could explain more, but I’d have to use more of those medical words, and to be honest, I peaked with gonads. 

There have only been a handful of women with PWS in the entire world who have had a baby. It’s something we’ve been honest about with her since she was old enough to understand. She’s pretty matter-of-fact about it. 

“I can’t have babies, can I, Mum?”
“No, sweetheart.” 
“But I am coping very well with my periods, really, very well.”
“You definitely are, yes."

So, many years from now, it’ll be down to her brother to ensure our family line lives on, God help us. Is it wrong to make a mental note of suggesting Gonad as a name for our first grandchild? It is, isn’t it?

https://www.justgiving.com/fundraising/carolyn-s-2-6-challenge1972



Song is Arrested Development - People Everyday

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 and donate anything you can spare - a few pence or a few pounds, it all counts. And keep coming back and reading. I mean, where else are you going to find out you've got gonads you never knew you had?

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