Roca

A trait that almost all people with Prader-Willi Syndrome share is stubbornness. Proper, full-on, foot-down, unshiftable, unshakeable, granite-set stubbornness. 

It can make life hugely difficult. 

When my daughter has an idea stuck in her head, stuff that’s supposed to happen, ways of doing things that cannot be deviated from, she is about as stubborn as it’s possible to be. She can’t adapt easily. She can’t be flexible. She can’t wing it.

But - and oh, that ‘but’ word can sometimes bring beauty and comfort - her stubbornness can occasionally produce something amazing. 

Sometimes it makes her climb mountains.

I say mountains, when what I’m actually talking about is a rock. A great big rock in Spain. Calpe Rock is a big, huge, sticky-up thing that takes an age to scale. (I say scale, I mean trudge along the zig-zaggy, rocky paths until you get to a tunnel marking the beginning of the much steeper last third, and realise it just ain’t gonna happen in flip-flops).

We were on holiday with my brother and sister-in-law, who live just a few miles from Calpe Sticky-Up Thingy, and my girl had decided she would make it all the way up to the tunnel. It was a hot, hard, route, and as I flip-flopped my way ahead to try and keep my mountain goat son in view, I was convinced my daughter would never make it that far. 

I was wrong. Out of the blue and pretty in pink, she clutched her dad’s hand, and walked and walked and walked without complaining. 

Her muscles are weak, her gait and balance is wobbly, her stamina is poor. But she’d told her Aunty Jill she was going to do it, and by ‘eck, that meant she would do it. 

She did.

She rocks.

She was so tired she had a siesta that resembled a mild coma.

My stubborn girl.

We've been helped hugely over the years by the PWSA UK (Prader-Willi Syndrome UK) - an amazing charity who do tremendous work supporting people with PWS, their families, and professionals who work with them. To find out more about the condition and the charity click here .  If you can spare a few quid please click on the Donate Now button on the right hand side of their home page.

Checklist

I don’t know what it feels like.

My daughter has Prader-Willi Syndrome and it affects her life and our family’s life every day, but I don’t know how it feels inside her head.

I don’t know what it feels like to be hungry all the time. I don’t know what it feels like to have anxiety levels that can be overwhelming. I sometimes imagine her worries to be like a swarm of bees, humming and buzzing in the background, but I don’t know what it feels like.

Flip the coin, though; I do know what it feels like when I watch my daughter cope, and I do know what it feels like when she surprises me.

Like today, when she came home from college, beaming, showing me a booklet she’s been working on with her tutors about mental health awareness.

“I did really well today, Mum. Look at my big list of anxieties I made.”

Shout
pacing
shut down
fidget
crying
shakes
freeze
faint
not talking

random words
stomach turning
blood heart go quicker

My first thought was "That sounds like my symptoms after a hen night involving ill-advised consumption levels of tequila", but my second thought was "That’s a pretty self-aware list".

She was really proud of herself for writing out the feelings and ways in which her anxieties manifest themselves. (Although she’s never fainted, so quite where that one came from I don’t know). And I felt proud too. It’s actually a pretty good check-list, and a demonstration of the very different ways in which her mental health issues can surface.

It’s a bit weird, isn’t it, a parent and a child smiling at eachother and high-fiving over a long list of ways she demonstrates being upset? 

But when it comes to PWS, weird is normal and normal is odd. I can’t get inside her head when she’s being amazing, brave and strong, but I really hope it feels good in there. It should. 

We've been helped hugely over the years by the PWSA UK (Prader-Willi Syndrome UK) - an amazing charity who do tremendous work supporting people with PWS, their families, and professionals who work with them. To find out more about the condition and the charity click here .  If you can spare a few quid please click on the Donate Now button on the right hand side of their home page.

Song is Ty Segall - Feel

Crust

It's Prader-Willi Awareness Month, so today I was going to tell you informative, medical, scientifcular stuff about my daughter.

But then, as I sat here on my sofa, curled up with a glass of whisky - don't judge me, I deserve one - I had a little moment of awareness myself.

I'd spent most of my day in the hospital having a plaster cast cut off, the wires in my broken finger checked, and being fitted with weird moulded splints by an impressively able but overworked hand therapist. (If you're feeling any sympathy, don't; I decided at the eleventh hour the other week to play in a rugby tournament when I should have been resting my dodgy knee. I survived without a knee injury but got my finger smashed up instead. I am 47 years old, and my coach says I am a 'legend' and a 'bell-end'). 

Time was ticking on, and as my other half drove me back home, I glanced worridly at the dashboard clock, willing the traffic to clear so we could be there when my daughter's college transport dropped her off on our doorstep. 

At the back of my mind was that horrible voice that nags at me sometimes: "Your daughter is 20. If she didn't have Prader-Willi Syndrome, this wouldn't even be an issue. Hell, she'd probably be taxi-ing you home herself. Life would be so much EASIER." It's a mean, snidey voice, sharp with jealousy and self-pity.


And then I get this text from my girl: 

",mum have you got a new crust". 

And everything is OK again. The nasty voice has gone, and the other voice is there. The smiley one. The one that breaks through the clouds: "Your daughter is 20. When she was born, and the outlook seemed so bleak, you wouldn't have dreamed that the little girl with floppy muscles who couldn't walk or talk would be sitting on her college bus, texting you. Life is amazing. Her spelling is shite, but still. AMAZING."

Awareness isn't always about me trying to educate other people. It's also about me being aware of how far she's come.

We've been helped hugely over the years by the PWSA UK (Prader-Willi Syndrome UK) - an amazing charity who do tremendous work supporting people with PWS, their families, and professionals who work with them. To find out more about the condition and the charity click here .  If you can spare a few quid please click on the Donate Now button on the right hand side of their home page.

Song is Hank Ballard & The Midnighters - Finger Poppin' Time

Bitch-slapped

My daughter is not one thing. She is not defined by Prader-Willi Syndrome; it is a huge part of her life but it isn’t everything.

When I write about my girl, more often than not, I focus on the positive. It’s how I deal with life in general - get through the bad stuff and enjoy the good.

But it does mean that sometimes people don’t quite realise that PWS can be a bitch. The first photo doesn't look like my daughter, the second does. They're both her. It's just that in one, she's been bitch-slapped.

Having PWS means my daughter has random, anxiety-induced meltdowns that she cannot be talked out of, reasoned with, or distracted from. People with PWS are emotionally immature and can often be overwhelmed by their feelings, which they struggle to control.

When my girl gets swamped by a wave of emotion it soaks me, too. I sit next to her, unable to ease her distress, even though I know the flash flood will recede and she’ll be smiling her amazing smile again, sometimes after five minutes, sometimes not for a couple of hours, and sometimes not until she’s had a good night’s sleep.

There are people who’ve known my daughter all her life who have never seen this happen. It’s difficult and gut-wrenching, and yet, like an awful lot of weird and sometimes not so wonderful things you deal with when you have PWS in your life, you get used to it. Even though you want to slap the PWS bitch right back, you get used to it.

May is Prader-Willi Syndrome Awareness month and it’s something people should be aware of. 

We've been helped hugely over the years by the PWSA UK (Prader-Willi Syndrome UK) - an amazing charity who do tremendous work supporting people with PWS, their families, and professionals who work with them. To find out more about the condition and the charity click here and if you can spare a few quid then click on the Donate Now button on the right hand side of their home page.

Video is Talking Heads - Swamp

Stripe

I’m gonna science ya.

I’m going to tell you what causes Prader-Willi Syndrome, the chromosome disorder that affects my daughter.

Here you go:

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.

Got it?

I’ll simplify. It’s a blip. A tiny miniscule error. In my daughter’s case it’s the deletion - a little missing stripe from one little chromosome. It’s not something you can test in advance for - no-one carries a gene that causes it. It’s spontaneous. It happens at conception. Let me put it even more simply...if the sexy luurve shenanigans had taken place on a different evening, it wouldn’t have happened. I’m sorry for planting that image in your head, but you’ll just have to get over it.

You can drive yourself crazy with ‘What if?’s. But it’s pointless. Because as much as you can rail against the unfairness of it and wish things were different, you have to look at another, bigger ‘What if?’. If we hadn’t made our daughter when we did, she wouldn’t have PWS. But if we hadn’t made our daughter when we did, we might not have our daughter. 

May is Prader-Willi Awareness Month. We've been helped hugely over the years by the PWSA UK (Prader-Willi Syndrome UK) - an amazing charity who do tremendous work supporting people with PWS, their families, and professionals who work with them. To find out more about the condition and the charity click here and if you can spare a few quid then click on the Donate Now button on the right hand side of their home page.

Video is The Strypes - Blue Collar Jane

Door

Life led us through a different door. I say ‘led’, but it was more of a shove, and thinking about it, we didn’t walk, we plummeted. Life can be a sneaky bastard like that sometimes.

After the pain of a miscarriage, I'd felt this was our turn for things to work out to plan. My second pregnancy went well, and our daughter was born, and she was beautiful, but something had happened. She wasn’t perfect. She wasn’t ‘normal’. She was small, and floppy, and wouldn’t feed, and she had to stay in hospital in special care, and did I tell you she was beautiful, and she was terrifying, and there was this ticking time bomb in her. The door marked ‘New parents - bugger off home through here please and get on with everything pretty well much like everyone else does’ had seemingly slammed shut. 

Our daughter had been diagnosed with Prader-Willi Syndrome. A rare chromosome disorder, affecting roughly one in every 22,000 people in the UK. We’d been given a printout of the features of the condition. The disability. The ‘wrongness’. And we were lost.

Learning difficulties, weak muscles, poor co-ordination, immature development of sexual characteristics, short stature, an inability to control emotions, and - and this was the time bomb, that would kick in as she grew from a baby to a child - hunger. The switch in the brain that should tell her she was full up after eating would never work. She’d constantly be physically hungry but would at the same time have to eat less than others to remain healthy, as she’d need less calories because of her low energy expenditure. 

It was devastating. We didn’t know what to do. The information from the hospital was stark, medical, frightening. There was a black and white picture of a hugely overweight adult in a residential home and we couldn’t relate our scrap of a baby girl to this image. 

It’s 20 years on now. May is Prader-Willi Syndrome Awareness Month, and over the next few weeks I’m going to share some of our journey through the door that led into the dark. The dark where numbness turned to panic, to confusion, to anger, to rejection, to acceptance, to triumph, to disaster, to recovery, and to love.

The different door is miles and miles behind us now, and is coated with dust. But if I rubbed it with my sleeve, I’d notice what I missed the first time. There was a sign, after all, and it says: ‘You'll be OK'. 

It's been a bumpy ride, but we are.

We've been helped hugely over the years by the PWSA UK (Prader-Willi Syndrome UK) - an amazing charity who do tremendous work supporting people with PWS, their families, and professionals who work with them. To find out more about the condition and the charity click here and if you can spare a few quid then click on the Donate Now button on the right hand side of their home page.

Song is Steve Mason - To A Door