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?

Eye

My daughter is fast approaching the age of 18. The downside of this is that it makes me feel old. The upside is that she now says she wants a glass of champagne on the day - which means I get to have the rest of the bottle.

Eighteen means - in paperwork adminy terms - she’ll be an adult, so things are now transitioning away. Her neuro-psychiatrist has referred her to adult services, social services are swapping, and her long-term paediatric consultant won’t be her long-term anything any more. 

We’ll miss Dr Keya. Astonishingly, in 18 years, my girl has had just two paediatricians. Dr Keya took over when the first one retired, and overlapped with him at his clinic, so she’s know my girl since she was tiny.

We saw her yesterday, and I was expecting it to be a goodbye check-up. But it didn’t quite work out like that.

Dr Keya spoke to my daughter directly like she always does, and always has, with kindness, patience and interest. She knew knew about my girl’s back operation being a success. She also knew all about her being admitted to hospital with pneumonia since she’d last seen her. “Oh, they all told me about it on Ward 5,” she said. “I’m so sorry I wasn’t there to see you, but I was on holiday.” 

“Now, because you will soon be an adult, you should be going to see a doctor who treats adults because this is what happens when you’re 18,” she explained. My girl nodded, solemnly. “You never know, you might see my husband because he looks after adults!” 

“He DOES?” my girl’s head snapped up like a meercat on full alert. This seemed to be the most astonishing thing she’d ever heard. 

Dr Keya couldn’t help giggling (a trait that makes me very fond of her), but composed herself and continued: “I’ve been talking to your endochrinologist, and do you remember we were going to look at your hormones and look at giving you that special hormone oestrogen?” My daughter nodded again. 

“Do you remember we said we’d have to wait until after your operation to look at that? Well, I think what we need to do is get that all sorted. We don’t want to hand you over until we’ve got our plan set up for that, so would you be OK coming back to see us again?” My girl nodded again. 

“Now, another thing you asked me last time, was that you wanted to know whether you needed to go back on growth hormone, because you and Mum thought you were a bit more tired now you didn’t take it. Well, we thought you could have a special test to find out if you need it. Would you be able to come and take the test?” Another nodded response.

The final check-up that wasn’t the final check-up after all, was over. We left, both happy at being listened to, feeling cared for, understanding what was planned, and pleased we’d be seeing Dr Keya for a while longer.

But we didn’t go straight home. The nurses and Dr Keya had all expressed concern about my eye, which was very bloodshot, sore, and teary. I’d had a problem when I’d taken out my contact lens that morning, when it had seemed to ‘stick’ a little as it came out. They advised me to swing by to the hospital walk-in urgent care centre before leaving. 

After being told there was a two hour wait, and waiting for exactly two hours, I was seen by a nurse, who diagnosed a ‘corneal abrasion’ (I’m sure they did two tracks on Later With Jools Holland last night). "It's like a grazed knee, but on your eyeball," the nurse explained. This is now my new favourite sentence.

So I’m typing this at home, a day later, with an ointmented-up eye, and sunglasses on, having been told it'll take at least 48 hours for it to heal and to stop being so sore. Let me point out it is a very dull day, and I am coming to the conclusion that shades-toting pop stars are utter idiots, because it's really very dark when you wear sunglasses indoors on a dull day. 

Mainly, though, I'm thinking about how my girl, my almost 18-year-old girl, sat with me yesterday through it all, people-watching all that time in the waiting room, asking me if I was OK when I puffed and panted through the pain. Thinking about how sometimes she can be amazingly grown-up. And also thinking ‘Ow, ow, ow’, of course, because I’m way more of a wuss than she is.

Video is Wilco - Red Eyed And Blue

Oestrogen

It was just one little sentence. One, short phrase uttered by my daughter yesterday as she chatted, shyly, in a hospital consulting room.

We were seeing her endocrinologist* (*hormone-wizard, as I call her. This may, or may not be a precise medical definition). Her paediatric consultant was also there, plus a nurse. All of them have seen my daughter on numerous occasions, so she feels quite at ease talking to them.

We were discussing puberty and menstruation. As you do. Most girls with Prader-Willi Syndrome do have some signs of puberty, but do not have their periods, or if they do, they’re scanty, and irregular, and may not occur until they’re in their 20s.

Although this doesn’t sound like a terribly bad thing, it is. It means the body isn’t producing enough oestrogen, which is very good for bone density and protecting against things like osteoperosis. So at some point in the next few years, she may have to have her oestrogen levels artificially increased.

Of course this deficiency in sex hormones means something else. Something I’ve been open with my daughter about, mentioning it if it naturally comes up in conversation, so it’s not a big secret or surprise for her.

And this is what she referred to, in front of all these medical professionals, as we talked about her menstruating in the future. It made me desperately sad and desperately proud.

“Well, I can’t have a baby, but I might have a period. That’s quite grown-up, anyway.”

Video is Bandit Queen - Oestrogen.