Living and Working with Prader-Willi Syndrome

Submitted by Jackie Waters (UK)

It is one of life’s little ironies that before Prader-Willi syndrome (PWS) came into my life I was a very picky eater, and with such a small appetite that I was very underweight until after both my children had been born.

My first child was a daughter, Esther, born in 1978 by Caesarean section. It was immediately clear that something was amiss. She was very floppy and could not suck. I stayed with her in hospital for a month while they carried out tests. Down syndrome, cerebral palsy and some sort of muscle problem were all ruled out, so we were discharged from hospital with a catch-all diagnosis of “failure to thrive”.

And it was another of life’s little ironies that, for the first few months of her life, Esther was very difficult to feed. She didn’t cry and slept a good deal. We had to set the alarm to feed her, using a spoon or squeezing a bottle, to try and get even a small amount of milk into her mouth. Once she went onto more solid food, she began to pick up, and I had every hope that her initial set-backs were in the past. Her muscle tone gradually improved, but remained weak, so that she did not walk until 19 months old – quite early, I now know, for children with PWS.

What was a little strange about my adorable little daughter was that she would eat anything I put in front of her. Strange because of my own fastidiousness around food and because most little children will not eat something like cold cabbage – which a macrobiotic friend we were staying with when Esther was about three years old had presented us with for breakfast. Esther ate it with relish.

Then, around the age of four years old, she began to put on weight. Strange again. I tended to give her small portions of food which reflected my own small appetite, so why was she putting on weight?

We had been seeing paediatricians every six months or so, who were mostly happy with her progress, apart from her speech and language which was almost non-existent, though she did communicate through signs and noises and it was clear her comprehension was relatively good. When she was nearly five, and the weight gain was becoming increasingly obvious, my world was turned upside down when what was to be a routine visit to the paediatrician turned out to be the day Esther was finally diagnosed.

“I think I know what is the problem”, he announced. “I think she has Prader-Willi syndrome.” He showed me some pictures of children in a medical book and yes, Esther looked uncannily like them. He said he would send off a blood sample for a genetic test for confirmation, but even when it came back negative, I knew in my heart of hearts that this was what she had. At that time, genetic tests for PWS were in their infancy; a further test when she was 16 subsequently found the tiny genetic abnormality. The paediatrician said Esther was only the second child he had ever diagnosed with the syndrome and he could not tell me a lot about it, apart from cutting down on sweets, biscuits, cakes etc.

This of course was in the days before the internet and any type of information was very hard to come by. The nurse at the paediatric clinic gave me the address of the fledgling PWS Association, which had been set up just a couple of years previously, and was run in their spare time by a couple whose child had also received the diagnosis. The only information they were able to send me was a booklet from the USA, where the world’s first PWS Association had been set up in 1978 – the year of Esther’s birth. From that I learned that the syndrome got its name from Swiss doctors, Prof Prader and Dr Willi (along with a Dr Labhart whose name got dropped somewhere along the way) who had first described the syndrome in 1956.

Dr Andrea Prader with Jean Phillips-Martinsson (UK)

Much of the booklet was quite horrifying, and I found there were parts of it I could not look at for long. According to this, my angelic little girl was going to change into a ravening monster, who ate everything in her path, and alongside of that would have severe outbursts of temper and rage. What was more, she would never develop to maturity sexually, would not have children and would be shorter than average. How could this possibly happen?

It happens, I now know, because the genetic abnormality in PWS affects the hypothalamus area of the brain. This in turn controls a number of hormones which affect appetite, growth, sleep and emotions.

I vowed that I would do everything I could to help my daughter overcome this nightmare. I joined the PWSA UK, went to its meetings and conferences, and in 1987, three years after my son was born with no problems, joined the Trustee Board.

At that time, little was known about the life path of adults with PWS – the received wisdom was that the weight would continue to pile on and few people lived past 30. I suggested that I could carry out a survey of those parents we were in contact who had adult sons and daughters with PWS. A psychiatrist from Birmingham, Dr David Clarke, became interested in what I was doing, and the results were ultimately published[i] in 1989.

And so I became by default the Information Officer for PWSA UK, working in a voluntary capacity until 1991 and then as a paid employee, sometimes part time and sometimes full time. My current role is Support Team Manager. Our support team helps families and people with PWS get the support and care they need, answers their queries about every aspect of life with PWS, and training professional care staff. I am still responsible for writing much of the Association’s literature, most of which is on the Association’s website.

So what have I learned in my 39 years living and working with PWS?

I have learned that PWS is an incredibly complex condition which affects only around 2000 people in the UK. It can unfortunately happen in any family, as 95% of cases are “de novo” – ie newly occurring. Fortunately it is rarely hereditary. The genetics are a continuing source of interest to experts in the field, as is a finding a “cure” for the excessive appetite (hyperphagia). We now know, through MRI scans of the brain, that messages from the stomach to the brain, telling it that enough has been eaten, are not fully reaching the brain, resulting in a state of almost perpetual hunger. The low muscle tone (hypotonia) which continues throughout life imposes a “double whammy” on people with PWS: they actually need fewer calories than people of the same age and height to maintain a healthy weight –the reason my daughter began to put on weight when she was a child. Not because I was giving her too much, but because she her calorific requirements were far less than for other children.

The struggle to keep calories down, together with the individual with PWS’s search for food to assuage their hunger, makes it a very difficult syndrome to live with. Not only this, but immature social and emotional development means that even those who would otherwise intellectually be able to cope (although most have learning disabilities, a significant minority do not) are not able to manage the stresses and complexities of everyday life, often resulting in outbursts of temper which sometimes result in physical aggression. There are a range of other behavioural challenges, so distinct to PWS that psychiatrists describe them as a “behavioural phenotype”.

For most families with young children who can manage their child’s diet, PWS does not impact all of the time – the outbursts may not be that often, or relatively easy to deal with. This was certainly the case for me, and Esther was, certainly as a younger woman, very good at keeping to her dietary

regime – with support from me. However, as people with PWS grow older, independence becomes a big issue. Left to themselves, in almost all cases, the person would continue to eat until all the health problems which go alongside obesity overcome them. Sadly we still hear of people dying in their 20s and 30s, although the oldest person known to have the syndrome was 74 when she died. Only a handful, though, currently make it past 60 years old.

In order to manage the difficulties of the syndrome, a few specialist residential homes have sprung up where access to food is very restricted and where staff are trained to deal with the challenging behaviours that some people have. Esther’s story is a complex one, and not all of it is to do with PWS, but she currently is doing well in a residential home where she has lived for over two years now, having lost around 4 stones in weight.

PWS has changed my life. It was never on my career agenda (who indeed would want it to be?), but it has taught me so much. I have learned not to be judgemental of people who are obese and I have met people from all walks of life and from all over the world. In my work as a past board member of the International PWS Organisation (IPWSO) www.ipwso.org I travelled to countries as far apart in culture and space as Norway and Taiwan, but in every country, the children and adults with PWS face the same challenges. I am honoured to have been asked to be the representative for families and people with PWS in the EASO Patient Council and look forward very much to meeting other members of the Council at the upcoming Congress in Portugal in May.[i]

 https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1291957/ – Adults with Prader-Willi Syndrome: abnormalities of sleep and behaviour.

Posted Jun 12 2017 by EASO Secretariat in News 

Tags: Prader-Willi Syndrome Categories: News

What is the difference between obesity and PWS?

The European Congress on Obesity

Jackie Waters

Earlier this year, I was invited to become a member of the Patient Council of the European Association for the Study of Obesity (EASO), to represent people affected by PWS. I was then kindly invited to attend the 24^th European Congress on Obesity in Portugal as a member of the Patient Council (PC). At the time of writing, I am still unsure about whether PWS should be represented at the Patient Council, as PWS is such a special case and a good number of people with PWS, due to good management and healthy eating, are not actually obese. I intend to see how things develop on that front.

However, in between Council activities, I attended quite a few lectures and talks on aspects of obesity. The vast majority of the 1500 strong delegates were health professionals and public health officials from all over Europe – not people with obesity. There were no talks or posters specifically about PWS, and only one speaker I heard actually mentioned it in passing. Here, though, are a few things that I learned about obesity (and why PWS is so special).

The stigma of obesity

In a very moving session, Christina Fleetwood from the Patient Council, described how other people see those with obesity as lazy and stupid – they fail to see the real person behind the obesity or, as Christina put it, the “soul” of the person, and not just their body. This resonates with our own experience of affirming that all people with PWS are individuals in their own right.

Christina also mentioned that 35% of people with obesity have a known genetic basis for it. My guess is that this number will rise as researchers find out more about the condition.

Obesity as a chronic medical disease

In the same session, a thought-provoking talk was given by Dr Arya Sharma from the University of Alberta in Canada about his viewpoint that obesity should be regarded as a disease, rather than a bad lifestyle choice. He said that, regardless of the type of diet and after losing weight, in all trials 95% of people with obesity put weight back on.

So what about the 5% of people who don’t? He found that this group only consumed 1400 kcals per day, burned 400 kcals per day by doing exercise to the equivalent of 60 minutes walking at 15 minutes per mile, ate 5 times a day, and limited intake of certain foods. Does that sound familiar?

He then went on to say that this was verging on pathological behaviour and could be seen as an eating disorder. As this “behaviour” is a path we advocate that families and people with PWS should follow, this made for uncomfortable listening.

He also said that the received knowledge that obesity was related to “calories in” vs “calories out” was simple physics. The interaction of the complex mechanisms of our bodies (physiology) is “biology messing with physics”.

And, that the more calories are decreased, the greater the appetite becomes. (Is this the case for people with PWS? We know that once weight begins to be gained in PWS (by eating more food), this does not appear to decrease the appetite – which is the counter-point to this statement. And if this holds true for people with PWS, what is it like to be living with this all-consuming hunger?)

Dr Sharma said that he had never met a “cured” person with obesity – only someone who had been treated. Behaviour modification strategies bring about only a 3 – 5 % weight loss in the long term. Bariatric surgery is more successful over the long term, but there are simply not enough resources for everyone who would benefit from it to receive it. The “treatment gap” could be filled by pharmacotherapy (pharmaceutical drugs) but there is still a long way to go to find truly effective remedies.

If you’d like to find out more about Dr Sharma’s views, he has a blog at www.drsharma.ca

And you’ll find the complexities of obesity all laid out on the Foresight Obesity Map at https://www.gov.uk/government/uploads/system/uploads/attachment_data/file/296290/obesity-map-full-hi-res.pdf

Other messages I took home

Much of the information presented was way over my head, as I have no medical training. However, with apologies to the various speakers whose research and views I noted down, but not their names, here are some further points I thought of interest or importance, with my comments in brackets.

·        BMI size is not an indicator of health. It does not account for the wide variation in ratios of body fat, bone and muscle. A patient’s “best” weight may never be their “ideal” weight. (Many people think that people with PWS should aim for a BMI of 26-29 rather than the ideal BMI of 18-25).

·        Adherence to healthy guidelines leads to better self-esteem. (Does it? May the self-esteem stem more from the more structured and less dysfunctional lifestyle which eating healthily must employ?)

·        The growing importance of microbiomes in the study of obesity. Different people’s glucose response was different to standardised meals. For instance, the effect of bread types on weight is personal, not universal. This is due to gut microbiomes. Analysing the microbiomes in a person’s gut can predict how their body will react to different foods. Personalised diets are the way forward. (Should we be focussing on personalising diets for people with PWS?)

·        Biorhythms. We have “clocks” in every cell in our bodies and the central clock in our brain sends signals to these. The key hormone involved is melatonin. Food is a “trainer” to the body for the time of day.  Melatonin is produced in the dark, and exposure to light during the night switches off melatonin production. Research suggests that low melatonin leads to a higher risk of type 2 diabetes. Children who slept less than 11 hours per night were more likely to develop obesity by 7 years old, and that disturbed sleep is associated with higher BMI. One research study found that 40 healthy students who went to bed at 2 am felt hungrier the next day than another group who went to bed at 10 am. (We know sleep patterns are disturbed in PWS – how are these related to feelings of hunger?)

Low energy dense vs high energy dense foods. Those on diets based on low energy dense foods reported better fullness levels than those on high energy dense foods  – where both diets actually contained the same amount of calories.

According to the British Nutrition Foundation, “'Energy density' is the amount of energy (or calories) per gram of food. Lower energy density foods provide fewer calories per gram of food – this means that you can have satisfying portions of these foods with a relatively low calorie content. Evidence suggests that diets with a low energy density can help people maintain a healthy body weight.

Low energy density foods include foods with a high water content, such as soups and stews, foods like pasta and rice that absorb water during cooking, and foods that are naturally high in water, such as fruit and vegetables. Fibre in foods like wholegrains and potatoes with skin can also help to reduce energy density. High energy density foods tend to include foods that are high in fat and have a low water content, for example biscuits and confectionery, crisps, peanuts, butter and cheese.” www.nutrition.org.uk/healthyliving/fuller/what-is-energy-density.html

(So, low energy dense diets have been advocated for people with PWS for several decades, with good results when they have been maintained. How does this chime with the modified ketogenic diet (high fat, high protein) which some people are now reporting works well for their child?)

High protein diets. But then again, and somewhat confusingly, another researcher found that low-carb, high protein diets gave more satiation.

(What the heck are we supposed to believe? … back to the personalised approach, I suspect!).

Thank you

I would like to thank the Patient Council of the EASO very much for inviting me to this prestigious and very interesting event and for funding my attendance there.

I would also like to thank Dr Tony Goldstone MA MRCP PhD, Imperial College London, for kindly checking the factual content of this article.

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!