This week is PWSA UK Awareness Week. The Prader-Willi Syndrome Association UK want to spread the word about the rare chromosome disorder. They want more people to know about the syndrome, in an effort to allow children and adults with PWS to be understood and accepted, and to make more people across the country aware of what the condition means for PWS people and their families, friends, and carers.
Love
I’ve spent the past week scribbling down facts and thoughts and feelings about Prader-Willi Syndrome. Trying to explain and yet only scratching the surface. (With PWS people’s tendency to skin-pick, maybe scratching the surface isn’t the best idiom).
I’ve said a bit about the causes, something about the characteristics, given you a taster of the food issues, explained the anxieties and emphasised the emotional aspects.
What I haven’t said enough about is love.
I used to pity the parents of disabled children. I used to look away, embarrassed, frightened, guilty, ashamed.
I used to make snap judgements about the parents of children who were overweight, or kids who kicked off when it looked like they were old enough to ‘know better’.
I don’t like who I used to be.
I hear many parents of disabled children say they wouldn’t change their son or daughter for the world.
I know what they mean, and yet at the same time a voice in my head screams: “Well, I would, of course I would, I would give anything to take away my girl’s PWS.” And that’s true, but I have to acknowledge that it has brought some things into our life that I am grateful for.
I’m grateful I got the chance to see her determination. I’m grateful I got the chance to appreciate the little things. I’m grateful I got the chance to realise how precarious the paths of our lives are, and how we shouldn’t waste it pursuing things that don’t matter. I’m grateful I get to love her. When I kiss my daughter tonight, like always, my head and my heart will be full of love, and that's down to her.
When I see a child or an adult with a disability in the street, I no longer avoid eye contact. I look at them, I smile, and whatever difficulties they might have I know one thing: they will have changed the lives of their family profoundly.
This week is PWSA UK Awareness Week. The Prader-Willi Syndrome Association UK want to spread the word about the rare chromosome disorder. They want more people to know about the syndrome, in an effort to allow children and adults with PWS to be understood and accepted, and to make more people across the country aware of what the condition means for PWS people and their families, friends, and carers. Appointments
The appointments. Oh, the appointments. It used to be filofax companies, but now it’s Smartphone calendar app makers that we keep in business.
There’s the district nurse, and the consultant paediatrician, and the physiotherapist, and the geneticist, and the endochrinologist, and back to the consultant, and the height/weight nurse, and the orthotics specialist, and the Portage nurse, and the consultant again, and the A & E doctor, and the Special Needs Education Co-Ordinator, and the educational pyschologist, and the dietician, and the master plaster caster, and the surgeon, and the ortho chap, and the physio again, and the dentist, and the teacher, and the teaching assistant, and the consultant, and the endo, and the physio, and the SENCO, and the foot woman, and the back guy, and the substitute consultant that hasn’t got a clue, and the GP who’s ‘in charge’ of all the notes but who you never actually see because you see the specialists, and the consultant, and the research student, and the social worker, and the orthodontist, and the endo, and the transition person, and the consultant, and the whatdoyoucallher and the whatshisname and the rest of them, and there’s no rest from them, and you just want to tickle along and not feel like you need your own private bleedin’ parking space in the hospital, and it’s always on a work day, and you’ve never got the right change, and sod’s law you’re back again the next day to the same place, but then it’s a different hospital, and then they’ve lost your notes, and then you feel like standing in the corridor and yelling: "ENOUGH!"
These are the appointments you have when you have a Prader-Willi person.
They come in batches at different ages, and you do get to have a bit of a break, and then you get to have a bit of a spate.
This week is PWSA UK Awareness Week. The Prader-Willi Syndrome Association UK want to spread the word about the rare chromosome disorder. They want more people to know about the syndrome, in an effort to allow children and adults with PWS to be understood and accepted, and to make more people across the country aware of what the condition means for PWS people and their families, friends, and carers. Palms
People often talk about being 'overwhelmed' with emotion. For most, it’s just hyperbole. But if you know anyone with Prader-Willi Syndrome, you’ll be aware it’s not just an expression; it’s a reality.
Emotional meltdowns are a common PWS characteristic, and they are hard to watch, hard to explain, and hard to deal with. Imagine what they are like to feel.
Recently, the subject of emotions came up at a talk on Alzheimer’s I attended, where the speaker used a description vividly applicable not only to dementia but, it seemed to me, to PWS too.
What I learned was this: apparently the one part of the brain that remains unaffected by any form of dementia is the limbic cortex. It’s the most primitive part of our mind - sometimes referred to as our ‘lizard’ brain - and it's home to our base emotions. The speaker explained how sometimes Alzheimer’s can attack the parts of the brain that control our reasoning, our sense of what’s appropriate, our understanding of how to act towards others, whilst the lizard brain is still firing on all cylinders. And this is why elderly dementia patients can be overcome by their emotions - becoming angry, upset, terrified, and even violent.
The speaker used their hand to describe what happens. Imagine your palm is your lizard brain, and this is where all the big, overwhelming emotions are: love, anger, sadness, fear, joy. Now imagine your fingers and thumb are the parts of your brain that keep your emotions in check. Fold them down on your hand, slowly, to make a fist. This is you, keeping your emotions in check, as you often need to do in life. This is you taking the conscious decision not to punch that mouthy work colleague in the gob. This is you, ‘gathering’ yourself when making that Oscar speech, and not sobbing and snotting everywhere, mentioning no names, Gwyneth Paltrow. Now spring those fingers back up, and pretend you can’t fold them down. This is what it is like for many people with dementia: they’re palms open, primal feelings to the fore.
Sound familiar? PWS people are DEFINITELY palms pushed forward, fingers locked straight kind of guys. And those of us who look after them have to fold and clench like it’s going out of fashion because letting our own primal reaction loose is just about the worst thing we can do. When someone with PWS is desperately sad, it won’t help if you let your sadness flood out to; you’ll run out of Kleenex for a start. If someone with PWS is shouting and screaming with anger or frustration, responding by letting your inner Hulk out is only going to escalate things. And you’ll never be able to wear those purple shorts again. (Oh, actually, I forgot, there is one occasion when it’s OK to go primal, and that’s when our palms out people are overcome with love. It’s fine to let your lizard brain loose and reciprocate overhugging, and over-I love you-ing. This is the exception that proves the rule).
So hold up those hands, all you PWS parents and carers. And clench those fingers down, to practice keeping your emotions in check, because someone’s got to.
High five me. Keep palm and carry on. It’s kind of like the Black Power salute. I might get a special glove.
This week is PWSA UK Awareness Week. The Prader-Willi Syndrome Association UK want to spread the word about the rare chromosome disorder. They want more people to know about the syndrome, in an effort to allow children and adults with PWS to be understood and accepted, and to make more people across the country aware of what the condition means for PWS people and their families, friends, and carers. Anxiety
We all get anxious about things. Sometimes we fret about trivialities, but usually it’s the big stuff: exams, work, mortgages, relationships, the lack of willies on the heavily-oversubscribed-with-ladygardens Game Of Thrones. You get the picture.
For many people with Prader-Willi Syndrome anxiety can be as much of an issue as appetite. They are champion fretters. Worrywarts. And just as you need nerves of steel to negotiate the minefield of mealtimes, you also need to become adept at assuaging anxiety.
My daughter gets anxious about things you’d expect any 16-year-old to be anxious about. And lots that you wouldn’t. Here’s a random selection of her worries* (*excluding the obvious “How long is it until dinnertime?”):
“Am I still breathing?” “Will the hairdresser cut my hair too short?” “Am I grinding my teeth down?” “Is my schoolbag falling apart?” “Will *insert name here* be there?” “Will *insert name here* die because they’ve got a cold?” “If this is a Disney film, I can’t watch it, it’s too babyish! Is it?” “Is Topsy and Tim recording?” “Will my tablet run out of batteries? It’s only 89% charged!” “Why doesn’t my brother like Hello Kitty?” “Why doesn’t Daddy like aubergines?” “Santa isn’t going to bring me any presents, is he?” “Will you be late?” “Will we be late?” “Will they be late?” “Is Hitler in the toilet?” (I’ve written about this last one before. It’s the kind of thing that tends to stick in your mind.)
If I had to come up with a new ‘fretboard’ next week, several of these worries would still make the list, but the chart chops and changes, and never fails to surprise. Anxieties can arrive out of the blue, where there seems to be no earthly reason for them. Other times, their genesis is obvious; my daughter like to know when, where and why things happen, and they like them to happen exactly as planned in the expected order - and life? Well, life has a tendency to ‘un’ its ‘predictability’. So what can you do to minimise a PWS person's anxiety? There is no easy answer. But sticking to your plans where you possibly can is a good start. And having a plan for when plans don't go to plan is another good plan. (I hope that's clear, I got lost in the middle there for a minute). We don't always get it right. We try to explain, to distract, and to comfort. It's better to demonstrate than remonstrate.
And mostly, we just wait. The huge, all encompassing, meltdown-inducing worry might remain a problem, but often, in a day or two, it’s forgotten about. Just like a dead dictator in a toilet.
This week is PWSA UK Awareness Week. The Prader-Willi Syndrome Association UK want to spread the word about the rare chromosome disorder. They want more people to know about the syndrome, in an effort to allow children and adults with PWS to be understood and accepted, and to make more people across the country aware of what the condition means for PWS people and their families, friends, and carers. Eatiquette It’s Awareness Week and I’ve been trying to share some knowledge about Prader-Willi Syndrome. The basics - for the vast majority of people with the condition - begin and end with food.
So I’ve come up with some etiquette advice about food. I'm calling it eatiquette.* Here it is...
Keep food out of sight:Don’t snack in front of people with PWS unless you know it’s their snack time, too. If you’re having a party, maybe the food could be kept in the kitchen, behind a closed door, rather than out on the table from the start. Never leave the PWS person alone with food. If it’s your responsibility to supervise them, watch them closely; they can be unexpectedly sneaky. If it’s not your responsibility, give the minder peace of mind by doing something really simple: move the bloody food.
Keep food out of mind: Don’t talk about that lovely curry you had last night, what you had for breakfast or how you could ‘murder some chips’. You’re not ‘famished’, you’re just a bit peckish. People with PWS are obsessed with food because they ARE properly,physically, constantly hungry. If they bring the subject up, answer any of their questions, and try to move the conversation on to something else.
Communicate: Ask parents or carers in advance about the person's meal times, menus, and portions.
Beconsiderate: You wouldn’t open a beer under the nose of an alcoholic. You wouldn’t plonk a bowl of peanuts down on the table in front of someone with a nut allergy. A whispered “Is she allowed this?” when brandishing a plate with forbidden food does not count as being considerate. Check with mum or dad first, out of earshot of the person with PWS (and be aware that their earshot can put a long distance sniper to shame).
Think of alternatives:If you’ve got tortillas and dips, get a low fat huomous and some cucumber sticks. If you’re making a birthday cake, have a low calorie Weight Watchers’ cake slice on the side. There are such things as no-sugar jelly and light ice cream. Really. Think ahead. Ask.
Be on time: If you’re having a meal with a PWS family, don’t be late. Or if you are, send a message as soon as you know. And be prepared to grovel when you get there. Trust me, it really is just easier not to be late.
Do NOT say:“Oh, one little piece of cake won’t hurt,” “They’re not even overweight,” “I don’t see what the problem is,” “They’ll grow out of it,” “They’ve only got Prader-Willi a little bit, haven’t they?”. (This last one, in particular, might result in me giving you a “little bit” of a slap).
I don’t want to be dictatorial about it. (Yes, I know that sounds hypocritical when I’ve finished that list with a threat of violence). I appreciate it’s hard for someone outside the PWS family to understand. But being thoughtful or thoughtless when it comes to food can be the difference between a day being utterly joyful or utterly awful.
The simplest and the best thing you can do is to say this: “Tell me what I can do to make it easier.” And then I’ll hug you.
Song is Spearhead - Food For The Masses *This blog post was originally entitled Foodiquette, until my friend Hannah pointed out that it should be Eatiquette. I bow to her greater punnage.
This week is PWSA UK Awareness Week. The Prader-Willi Syndrome Association UK want to spread the word about the rare chromosome disorder. They want more people to know about the syndrome, in an effort to allow children and adults with PWS to be understood and accepted, and to make more people across the country aware of what the condition means for PWS people and their families, friends, and carers.
Characteristics
When you’re the parent of a child with a rare chromosome disorder, you do a lot of explaining.
I’ve gone through this conversation with hundreds of people in the 16 years since my daughter was born, and, as it’s Awareness Week, I’m going to have The Informal Informative Chat with you today.
Prader-Willi Syndrome is a complex condition, named after the Austrian paediatricians who first described it in 1956. (Incidentally, the name has caused confusion in my house, summarised neatly by the time my son asked me why his sister has ‘Prouder Willy Syndrome’ if she's a girl).
I normally simplify PWS when I explain it to people, by saying the part of my daughter’s brain which controls her appetite doesn’t work properly. I tell them she has to have a restricted diet because - despite always feeling physically hungry - her body needs less calories than usual to remain at a normal, healthy weight. I then add that she can get very anxious, has learning difficulties and finds it hard to understand and deal with her emotions.
That’s my quick guide to it: people don’t necessarily need to know more. I don’t always go from the shortlist to the longlist, like a Booker Prize judge, but you're here, you've read this far, so here it is - the Full Monty version of PWS characteristics:
Excessive appetite and overeating, almost certainly stemming from a hypothalmic disfunction; the message that the person had had enough to eat is not getting through
Food-seeking and stealing
Decreased calorific requirement owing to low energy expenditure
Life-threatening levels of obesity if not strictly controlled
Weak muscle tone and floppiness at birth often resulting in a failure to thrive, poor feeding, and the need for physiotherapy
Short stature
Immature sexual development
Learning disability
Poor emotional and social development
Poor temperature control
Skin-picking
Obsessiveness and a tendency to repeat questions
Stubbornness
Greater chance of developing mental health problems, including psychosis
This is, admittedly quite depressing. You know the phrase ‘bucket list’, well I think of this list as a ‘fuck-it list’, if you’ll pardon my Anglo Saxon, but really, honestly: fuck it.
Some people with PWS and their families have had to deal with every single one of these characteristics (and more). Usually, people with PWS have a selection of these, at differing levels of seriousness. My daughter scores high on a fair few, lower on some, and even dodges a few.
Awareness of all this is a good thing. But you also need to be aware of the Other List.
My daughter has PWS. And her characteristics are:
A sweet personality
The ability to charm everyone she meets
Olympic level chat
Determination
A love of books and reading
The memory of an elephant
The magical ability to glow when praised
Extraordinary patience with her brother
Seeing the world with wonder
High hand-holding tolerance
Cheekiness
A sense of humour
Giggle-skills
Exceeding every expectation
The capacity to amaze me everyday
Now that’s what you call a list.
Video is The Roll-Off Characteristics (Of History In The Making)
This week is PWSA UK Awareness Week. The Prader-Willi Syndrome Association UK want to spread the word about the rare chromosome disorder. They want more people to know about the syndrome, in an effort to allow children and adults with PWS to be understood and accepted, and to make more people across the country aware of what the condition means for PWS people and their families, friends, and carers. Genetics
Genetics is complicated. There is no medical explanation, for example, for the existence of Katie Hopkins. We do, however, know a bit about the genetic causes of Prader-Willi Syndrome.
I am now, foolishly, going to try to explain it. I’m taking a big breath, and diving in. Any scientists reading, feel free to pull me out when I start to panic...
Most of our body’s cells contain 46 chromosomes (23 from our mother and 23 from our father). These tiny structures are packages of genes which contain the instructions our bodies need to grow, develop and function properly. (The ‘saying no to a glass of wine’, ‘ever wanting to vote Tory’ and ‘dancing without looking like a numpty’, packages in my DNA are missing, obviously).
Egg and sperm cells normally contain just 23 chromosomes, so that they join up in conception to provide the baby with the 46 needed. The joining up bit is where changes or errors in genes and chromosomes can occur. I am a big fan of the joining up; not so keen on the errors.
Many genetic disorders are caused by a change in a single gene and can be passed down from parent to child. But Prader-Willi, apart from some exceptional cases (see below), is not an inherited condition; it just happens. More than one gene is involved, but they are all near to eachother in an area of one particular chromosome: chromosome 15. Every case of PWS is due to the baby not receiving active genes from this particular area of the father’s copy of chromosome 15. The mother’s genes in this area on her copy are ‘turned off’ because of a rare process called ‘genomic imprinting’. (Anyone else think this sounds like a phrase for a typo on a Snow White And The Seven Dwarves poster? Oh, just me then).
There are at least three different chromosome errors that can keep the key PWS group of genes from working normally:
1) Paternal deletion About 70% of all cases of PWS are where - with no known explanation - the critical PWS section of chromosome 15 (or The Bastard Bit Of The Bastarding Bastard, as I like to call it) is missing. The section has disappeared, and there’s no rhyme or reason to it. (Although a rhyme would be pretty rubbish: ‘It’s a paternal deletion, our blinds are Venetian’. See?). The deletion is inexplicable, and there is a less than 1% chance of it happening in another pregnancy. This is the genetic reason for my daughter’s PWS.
2) Maternal Uniparental Disomy (UPD). Yes, this sounds like a Peel Session. “A great live track from Maternal Uniparental Disomy there - three more from them later...”. UPD is a less common form of PWS (about 25% of cases are caused by it), and it is where the baby inherits both copies of chromosome Bastarding Bastard from the mother. Even though there are two complete copies of the chromosome, the key genes are imprinted - ‘turned off’ - resulting in PWS. This has the same effect as a deletion. Again, there is very little chance of this happening again in a further pregnancy (in fact, it never has).
3) Imprinting Defect In very rare cases (less than 5%), the PWS genes on the father’s chromosome are there, but do not work because his imprinting process is faulty. Chromosome 15 has a tiny little control centre (imagine the bridge of the Starship Enterprise), which is responsible for ‘switching on’ all its genes. When there is a tiny defect in the imprinting control centre, the PWS section may not be switched on correctly. (Imagine if Captain Kirk accidentally knocked out a power lead when having sex with a green alien woman while his shipmates were in the canteen. That sort of thing). An imprinting defect can appear suddenly, or can be present in the father’s chromosome he received from his mother. If the latter is the case, then there is a 50-50 chance that any child he has will receive the defective chromosome, because, crucially, the defect has now crossed to the father’s side. Further testing and genetic counselling are hugely important for families with a child whose PWS is caused in this way.
So, I hope I’ve made that all clear. References to Snow White and Star Trek may or may not have helped. I don’t think a quick burst of Heigh Ho! or a panic about the reoccuring shortage of dilithium crystals has anything to do with Prader-Willi. Although an urge to be beamed to another planet does occasionally cross my mind.
Please note: most* (*all) of the facts on this page have been heavily influenced* (*stolen) from the Genetics Of Prader-Willi Syndrome section of the Prader-Willi Syndrome Association USA's website. To read the original, more detailed, and much more sensible article, click here.
Video is Mull Historical Society - Minister For Genetics And Insurance MP
We were supposed to be going to a Bank Holiday fete today to watch a friend sing with her band.
I hadn’t told my daughter - who can’t cope with unexpected changes - that this was an item in today’s agenda. This turned out to be a godsend, because I got a phone call straight from Peter Kay’s Phoenix Nights, and our plans had to change.
It was my mum, marooned upstairs after her stairlift had failed. I had to say it; there was no way I could ignore the opportunity: “It’s OK. Keep calm. What would Thora Hird do?”
Obviously, after laughing for an inappropriate length of time, I offered to help. My dad - who can’t walk without a frame - was downstairs, unable to even make it up the steps to pass up a sandwich (although to be honest he would have no idea how a sandwich was made as he has spent his entire adult life being handed sandwiches by my mum).
I rolled up, like the fifth emergency service. Well, like a shit emergency service, as I could do little apart from find the number for the stairlift company (which promised 24/7 service). I could only get through to a bleedin’ answerphone.
I left a message and sloped off, having to be home to meet my brother-in-law, who was doing a pit-stop to pick up swimming floats, low-fat custards, and healthy snacks for my daughter, to take with him to the villa where we’re holidaying with him in a couple of weeks. (He’s driving, we’re flying, therefore he’s taking all our crap: forward planning and delegation - it’s what we do).
Then I called back at Mum’s, to see if the stair-lift company had responded. They had. They were on their way. We popped back in, to see if everything was OK, turned the On-Off switch to do the obligatory hard reboot, and the lift leapt into life. Mum was rescued, the afternoon was still young, so we decided to recalibrate plans, forget the fete, and join our friend for their birthday celebrations in a pub garden.
We’re back home now, after my daughter’s Prader-Willi internal clock kicked in just before tea-time, alerting her that it was...just before tea- time. So we’ve trotted home, cooked up a healthy sweet ‘n’ sour stir-fry, and have just about recovered from the ‘£7.95-special-offer-on-a-bottle-of-white-wine-so-it-would-be-rude-not-to-have-two’ shenanigans.
I’m sending my husband down the road to take our son to Beavers tonight. Me and my girl are curling up in front of Paddington - The Movie.
Hot on the heels of the 'too much information too soon' nocturnal emissions discussion that went on over breakfast recently (see blog post Glory), my six-year-old son decided on an ‘interesting’ bedtime chat last night:
"Why don't I have big muscles, Mummy?" "Well, you're a little boy. You don't really get big muscles until you're grown up." "When?" "Well, after puberty." "What's puberty?" "Well, when you're a teenager, you'll start to get a bit more hairy. You'll need to start shaving because you'll get a bristly chin, and you'll grow hairs under your arms, on your chest, and around your willy. And it's only then that you might get big muscles." "AND SOMETHING ELSE, MUMMY! BIG TESTICLES!"
I took a moment to compose myself. I needed to - he hadn't finished.
"What ARE testicles?" "Er...well they're like little pouches of skin." "And they look like little balls?" "Yes." "I've thought of a way I can see my testicles better!" "Oh yes? How will you do that?" "CHOP MY WILLY OFF!"
Song is Joe Chopper & The Swinging 7 Soul Band - Soul Pusher
My last blog post was about how my daughter, previously P.E. phobic, has recently started attending a Saturday morning disabled sports club.
Last week, she didn’t go, however. The entire family overslept. There was no chance of getting her to the club in time to catch the minibus which was taking the kids to the swimming pool.
She was disappointed, and her anxiety levels were starting to rise, as they usually do when plans are changed unexpectedly.
So I told her that for a treat, I’d take her out for a spicy tomato juice (a drink she loves).
This is how we ended up in the Yorkshire Grey, a hostelry just around the corner from our house.
And this is why I felt the hot sting of shame after my daughter returned home from school on Monday and said, smiling: “I told my teacher that I didn’t go swimming at Sports Zone because you overslept, and because we went down the pub instead.”
Thanks for that.
*avoids teacher’s judgemental gaze, forever*
Song is Belle & Sebastian - We Are The Sleepyheads
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This week is PWSA UK Awareness Week. The Prader-Willi Syndrome Association UK want to spread the word about the rare chromosome disorder. They want more people to know about the syndrome, in an effort to allow children and adults with PWS to be understood and accepted, and to make more people across the country aware of what the condition means for PWS people and their families, friends, and carers.
