A Path Less Travelled

by Jackie Waters (PWSA UK)

You never forget the day your child was diagnosed with PWS. It is one of those days when life takes a sudden lurch onto a completely new path, and signposts are few and far between.

PWS is rare. It is a path less travelled by most of people in this world, but it is a path from which there is no turning back as long as you have a son or daughter with PWS. 

My daughter, Esther was diagnosed in 1983, when she was nearly five years old. I still remember the feeling of shock and numbness.  What IS this thing she has? The doctor who diagnosed her had only seen one other child in the past, and could tell me little, except to cut down on food. The UK Association was still very much in its infancy and got most of its information from the USA. When that finally reached me, over a month after Esther was diagnosed, I read that my daughter was likely to turn into something I really did not want to deal with. 

Many years down that path and looking back, it has been quite a journey. I have met people I would never otherwise have met, from all classes, races and cultures, who I can talk to like family – because only they understand. I have learned about genetics, endocrinology, nutrition, psychology, orthopaedics and a host of other things. Above all I have learned patience and tolerance.

Nowadays, there is a lot of information out there for many parents who have a child diagnosed with PWS –though there remain many unanswered questions. But some parents, who don’t have access to the internet, to other families, or to knowledgeable medical  professionals, are even now in the same situation as I was in 1983 – alone and unsure and, quite probably, without even a diagnosis.

IPWSO reaches out especially to these parents to let them know they are not alone; that there are signposts on the path and that there are others who have trodden this path before them, and who can help, even if they are people they do not yet know.  

IPWSO is having an awareness drive this Easter, asking for donations to further help those in the world who need the critical information that was not available when my daughter was small.  Please help – donate the cost of a few Easter eggs, and encourage your friends also! 

 

Easter time musings

As a child, I used to love Easter.  There was a solemnness about it that made it different from Christmas with its joyous lead-up to an exciting occasion.  I wasn’t too sure why, but I loved the peacefulness.   Easter was quieter, much more low-key and didn’t entail a huge family dinner.  What it did have, every time without fail, were hot-cross buns and an Easter egg.  Sometimes it was a big (in my eyes) chocolate Easter egg, and sometimes it was the smaller one which only cost 6d and was wrapped in bright coloured tinfoil that you could smooth out carefully and make pretend butterflies from.  I didn’t ever like the big hollow Easter eggs as they were just that – hollow.  Empty.  And just rather dull.  But the squashy marshmallow eggs were a treat worth waiting for.

As I grew older and the Christian meaning of Easter became apparent, Easter took on a new meaning and one which took a bit of understanding as it stood for both death, and rebirth.  Chickens and rabbits became woven into the whole fabric of Easter and although it was not the season of Spring in our land, there were certainly plenty of rabbits and autumnal hatched chickens.  Easter now became something to do with the essence of life, but the eating of Easter eggs was still greatly favoured in our house.

Older still, and the reality of the Easter story and the part played by the Church meant understanding the Biblical stories of Christ and their relevance in today’s society.  Easter became a season divided into a secular society celebrating the Spring equinox and the Christian society celebrating the resurrection of Christ.  It was a time of learning the differences between secular and religious communities, and between Christianity and other religions.

But there were still Easter eggs, and hot cross buns and, now, a greater understanding of what the holiday was all about.

Then came marriage and babies.  One of the babies had Prader-Willi Syndrome and quite suddenly things like Christmas and Easter became food festivals to be treated with greatest caution.  For weeks before the Easter holiday, shops and supermarkets were gaily festooned with Easter eggs, each year getting bigger and bigger, more and more outlandish.  No longer just hollow eggs, these were filled with even more chocolate.  There were rabbits, chickens, and all sorts of figures made out of chocolate: chocolate money, chocolate cakes, birds’ nests, birds’ eggs, all variety of birds and rabbits to make shopping a nightmare.  The whole Easter egg thing became a competition about who got the most, and kids would be eating them at school long before Easter hove into view.

What was I going to do?  By now there were three children and the one with PW was the youngest.  The oldest were used to the tradition of an Easter egg – more from grandparents, aunts, uncles and so on – and now, well, was I going to have to ban this?  I had to start somewhere, so I persuaded the wider family not to give our children chocolate eggs, but if they felt they had to give something, to do it when the youngest was not around.  We introduced the idea that our chickens laid eggs and on Easter Sunday there would be one special egg – and happily they did!  Easter, like Christmas, slowly became more low-key, still celebrated, but without the emphasis on food.

Time has rolled on, and around the corner Easter is waiting again.  My daughter (the one with PW) amazed me the other day by saying she thought this year she would prefer an Easter bun rather than an Easter egg.  Not sure whether that will be a statement set in concrete, in fact I strongly suspect it is a ploy to have both, but whichever, you can be sure that if you ask her for a bite of either, she will willingly share it.  I rather think many others of our extended PW family are the same and that strong streak of generosity is in all.

Perhaps you are already buying up the Easter eggs and Easter buns, ready for the festivity?  Perhaps, this year, you would donate the cost of a few eggs to IPWSO so that we can continue to help those families in great need?  You can go to our Easter Appeal (click on "Sponsor") to donate.   We would be so grateful for your support!

So... how many Easter Eggs will you eat?

IPWSO Awareness Week is all about chocolate - that's right, it's about how many Easter eggs will be eaten around the world this Easter.  Google tells me that over 80 million Easter eggs were eaten last year in the UK alone!  In the States the figures rise to over 700 million. 

When, at our monthly Skype meetings, the discussion started around fundraising this year, I swear you could hear stifled sighs from all around the world!  No one really likes fundraising or asking for money, or pushing your financial needs in front of other just causes, but these days it's what we all have to do.  Someone said, "let's do this at Easter!  Every family with a child with PWS dreads Easter and all the extra temptation!  Let's make sure everyone knows how hard it is!"

The idea caught on, and so we are concentrating on this week before Easter in order to raise awareness of IPWSO and the work we do. We rely heavily on the goodness and generosity of people like you to help us continue doing what we can to help families around the world.  For example, every month there are many email enquiries for help.  Some of this is straight-forward and we can put people in touch with others in their country, but some of it is more involved and requires searching for answers.

Prof Tony Holland

We have a fantastic Scientific Advisory Board (chaired by Professor AJ (Tony) Holland), and all these people give freely of their time which means if you have a question, we can put you in touch with specialists in all fields of PW.

Some of our PPCB Board

We have a residential advisory board, Professional Providers Caregivers Board (PPCB) who are there to give advice on residential accommodation for adults with PWS.  All of these people also give freely of their time.

We have FamCare, a board of parents and specialists who look at what families looking after an adult child with PWS need; this is more like a parent-to-parent group where the experts are the parents.

Our wonderful BIRD laboratory staff with their founders

IPWSO covers the costs of providing free diagnoses to families in countries where this would otherwise be impossible.  Last year, we did 47 free diagnoses.  Each diagnosis costs IPWSO USD190.  But, there are 47 more families who can now start to understand PWS and learn how to raise their child in the best way possible.

IPWSO helps and supports countries wanting to have their first conference, or even just a meeting of families and professionals.  In 2013 we supported meetings in Cuba and Honduras; places where parents had never met another child with PWS.

One of our many IPWSO booths

IPWSO attends international ESPE conferences were hundreds of paediatricans from around the world gather and hundreds pass by our IPWSO 'booth' and pick up information to take back to their countries with them. 

IPWSO supports 103 countries from Algeria to Yemen.  We know that there are many Western countries who don't need our direct help, but you are the only ones who can help us to help others.

So, in the tradition of Easter giving, would you, your friends, your associates, your Association, your family, help us to help others by donating the cost of a few Easter eggs?  Little Louis from Ireland has saved his pocket-money - you can see him in this video - and you can donate by clicking here.   Your donations will go towards providing free diagnoses, support for new associations, information-sharing and publications.

We are grateful to you for your generosity and support.

The IPWSO Chair and Board members

"So... how do you earn a living?"

by MH

I recently subjected myself to the necessary discomfort associated with visiting a dentist and was happy to hear that I had no significant new dental issues.  However, finding no new problems for which to propose costly solutions, the dentist instead suggested I replace two existing fillings using more modern materials.  As part of the faux casual conversation that preceded the preparation of the "treatment plan" the smiling dentist asked, "so, how do you earn a living?"

I was taken aback.  I also had very little time to construct an appropriate answer given that a suspicious-looking implement was being guided towards my mouth even as the question was being articulated.  

However, as I drove home afterwards I reflected on some answers I could have given...

1. None of your business.  All you  need to know is that I can afford whatever option you propose, but will only go ahead with if I'm convinced it's necessary. 
2. I don't earn any  money.  Rather, I am a parasite on my family and society.
3. I have entered into a collaborative and mutually-beneficial partnership with my husband whereby he works in a wage-earning role and I mind our children (including one with PWS), look after the running of our home, engage in voluntary work of benefit to society, ensure our long-term financial stability by investing and prudently spending the money that my husband earns, and assist older relatives whom I know rely on my support.
4. Despite my unkempt appearance I am in fact already so filthy rich that I no longer feel the need to earn and instead luxuriate in a life of idleness and excess (I doubt he'd have believed this one).
5. I earn my place in this world by working as a carer, volunteer, housekeeper and friend.  These activities take so much of my time and energy that there are, sadly, not enough hours left for me to also earn money.

Of course, I didn't say any of these things, but instead mumbled something slightly incoherent about having young children and let it pass.  And OK, OK, in hindsight I can see that maybe I over-reacted slightly and took just a teeny-weeny bit too much offence at the question.  After all I was in a dentist's chair at the time and in a tense mood as a result.

However, even though my mood has now considerably improved, I still find the question objectionable.   I have a problem with it because it implies a norm (earning money) and hence divides people into those who conform with this norm and those who don't.  It also disregards the reality that societies generally rely on large numbers of people engaging in unpaid work, and it is these unpaid workers (people like me who don't earn) who make it possible for others to earn ... if there was nobody to look after my dentist's children then he couldn't work as a dentist.  To me, although not explicitly-stated, this question also sounds value-laden, as if earning is better than not earning. In addition, I have a problem with this because it totally unnecessarily ignores the socially-acceptable alternative means of finding out the same information.  Where I live, etiquette suggests that one should ask "what do you do?", when seeking to find out a person's work status.  This formulation gives people the option to identify whether they are part of the paid or unpaid workforce or not and gives them the freedom to describe how they spend their time.

Debate around what work societies choose to pay for is, of course, hardly new.  I think I may be particularly sensitive to questions like this because so many adults with PWS fall into the non-earning category and so, of course, may my son.  If this happens, it won't be because he has no talents or no means of making a valuable contribution to society.  In fact, I believe he can and will make a very valuable contribution to society.  However, if my society remains as it is now, the contribution he makes may well be in areas that do not attract wages. 

I guess I should just advise him to visit a different dentist then ... or come up with a grand plan to change society before he reaches working age!

I could eat a hundred of those!

I had been thinking about dieting for quite a while – well, since January 1^st as it happens.  But dieting requires exercising as well and I’m not that keen on exercising.  But over the last year and a half, I put on weight after two operations to restore my hip and then my knee to a state of perfection.  Now, fully equipped with state-of-the-art joints, there can be no more prevaricating or excuses not to repay the hours of intricate repair by my friendly surgeon, and use them to their fullest capacity and, of course, this means putting my money where my mouth is.

One of my daughters introduced me to something called MyFitnessPal which is an app for my phone.  This clever little app will let me write up everything I’ve eaten, it will even scan in barcodes for my convenience, it will calculate the amount of calories I’ve consumed and, should I exercise the new joints, it will subtract the calories expended so I can “buy” my next meal with added extras if I so choose.

I’m intrigued by this patient and understanding little helper that doesn’t nag me or say ‘no, you can’t have…’ but relies on my conscience to sort things out.  At the end of the day when theoretically I should have stopped eating, it will give me a pat on the back for completing my day’s work and tells me in 5 weeks time, if I continue in such style, I will weigh a sight less than when I started.  So far, I’ve managed nearly 6 weeks and, yes, I have lost a few kilos.  The first week was difficult, and this is where my best learning happened.  I learned what it felt like to be constantly hungry; I learned that being grumpy was pretty much ongoing; I learned that I actually felt better after I’d had a walk for 30 minutes and while walking, I wasn’t feeling hungry.  I learned to love cottage cheese and look forward to wafer-thin biscuits that taste like cardboard.  I learned that when I couldn’t sleep at night, it was often because I was hungry, so I learned how to sneak into the kitchen and raid the cupboards.  I learned very quickly not to have peanut-butter in the house.

In effect, I learned what it felt like to be my daughter – the one with PWS.  When she says, “I could eat 100 of those,” I can say, “me too, I wish we could, but do you know how long we’d be walking into next week?!”  I crave a piece of chocolate last thing at night; and, if MyFitnessPal says I can have one, it tastes like heaven.  The other night we went down to friends for a “fish and chip” evening.  I told my husband he’d just have to take one for the team while I took, in a plastic container, a meal of lettuce, smoked fish and couscous.  I explained to our hosts that I was trying to lose weight and they were very understanding.  But, just like my daughter (the one with.. etc) I just wanted a little taste – it smelled so inviting, so yummy, surely I could just have one chip?  And yes, I could have sneaked one off someone’s plate and they would have been polite enough to ignore me, but I didn’t.  I ate my lettuce, smoked fish and couscous and, actually, it tasted really nice and didn’t give me that heavy feeling that a huge plate of fish'n'chips can do.

This brings me round to the argument of fat vs sugar.  Have you noticed recently there is a lot in the newspapers and magazines about the ‘deadliness’ of sugar?  No longer is fat the No.1 Evil that it was purported to be; sugar has taken over.  We’re told that when we were still living in caves, the amount of fat we ate then didn't kill us, it, in fact, protected us and enabled us to get through the hardship of famines.  We've realised that diseases like diabetes, various cancers, and weight-related illnesses didn't exist back then; they've come along since the invention of sugar.

When fat was the No.1 Evil, food manufacturers quickly learned to sweeten foodstuffs with sugar while labelling foods “fat free, lite, low-fat” etc.  I noticed even peanut-butter and the all-time staple of Aussies and Kiwis, Vegemite and Marmite, are higher in sugar content than ever before.  Sugar is hidden in so many manufactured foods and we barely notice how addicted to this we have become.

A huge amount of research is being done into obesity – something we all already know – and it is interesting to learn that hunger, the most basic survival instinct of all, is controlled not by the gut, but by the brain.  Research is being undertaken to find ways to trick the gut hormones into convincing the brain we’re full on less food.  Similarities between the brain-signalling of obese people and alcoholics, and the difference between them and their thinner counterparts, is being investigated.  We are learning that our genetics are linked to both our food preferences and our ‘varying natural ability to activate our satiety switch – the signal that tells us we’re full’ (North & South March 2014: The Food + Science Issue). Of course, my daughter (the one with ...etc) has a dysfunctional brain, so her satiety switch mostly doesn't work.

There are several conditions that affect both brain and gut which could be caused by a poorly functioning immune system, “People who have autism have increased rates of leaky gut and IBS (Irritable Bowel Syndrome), and it turns out that these individuals who are obese, particularly kids who are the offspring of obese parents, also have a higher incidence of gut problems, such as leaky gut, colitis, and inflammatory bowel disease” (Christine Jasoni, Neuroscientist, ibid).  This piece of information made me very aware of the number of times my daughter (the one with.. etc) has admitted herself to hospital because of bowel and gut problems; it also reminded me of our own PW researchers who have observed this in Prader-Willi syndrome.

There is so much that is against our having a healthy dietary regime with its full complement of exercise that it is no wonder the world is experiencing a huge rise in obesity.  There are the food manufacturers who want us to buy more of their processed foods – so lace them with sugar, or, when saying they are sugar-free, with fat, so that we become addicted to the taste.  There are our own genetics which play a part in whether we are “sweet” or “savoury” eaters; there is our brain fighting our gut; there is our own hard-wired selves who desire food practically more than anything else and the good old dopamine feel-good hormone that says to our brain, “have more!!” 

All of this just brings me back to MyFitnessPal and my own feelings of hunger and how much I have associated with my daughter (the one with…etc) as I fight to become fitter in order to battle the aging.  The old saying (albeit slightly altered), “walk a mile in her shoes” comes to mind, frequently.