Monday, May 7, 2018

What Price a Syndrome

 May is PWS Awareness Month around the world, and recently I found myself looking back over the last 34 and mentally totting up the cost of having a child born with a syndrome.  Not the financial cost: the emotional cost, and the cost of awareness.  In this particular case, our youngest daughter was born with Prader-Willi Syndrome 34 years ago when no one really knew anything about it, much less be able to tell me the cost it would incur to our family.  Had I known even then, I wouldn’t have been able to do much anyhow.  In 1984 not much had changed in the scientific understanding since PWS was first identified in 1956.

I was brought up in the Baby-boomer years, the tail-end of a time when doctors were still Gods, when politicians were benign, rather helpful people who talked a lot in Parliament and ate and drank a lot at the local watering hole.  There was a general acceptance that we had the best health system in the world and were leaders in looking after the poor and needy.  Most of us grew up still thinking that.

As first children born to parents who had endured the war years, we wanted for nothing.  Visits from Plunket nurses, school milk, free education.  Growing up in the 50s, I remember long summer holidays, listening to favourite radio programmes, playing in the streets and the parks til dusk, walking to and from school, safe in the knowledge that nothing and no one would harm us.  It was a formative childhood about to take a huge tumble into adulthood.

Along came the Muldoon years – the Muldoon* family lived just down the street from us and my father would tip his hat to Muldoon (“Mister  Muldoon, from you!”) if ever he saw the Government car coming down the road.  He approved of women in Parliament, only if they knew their place, so he heartily  disapproved of Marilyn Waring**.  Approval of the Vietnam War was a priority in our household and woe betide any teenage daughter who dared venture a contrary opinion.  Women’s Lib mystified him.  What was the point? My father was the head of the household and such was the hierarchical system that what he said, went.  Whoever was at the top of whatever system, therefore, must be right, so years later after my father had died and when my daughter was born with Prader-Willi Syndrome, my expectation was that whoever was in charge would know all the answers.

They didn’t.  Tests in hospital, mutterings from groups of doctors on their rounds, hastily scrawled notes hidden from my view, and no answers.  Apart from a nurse whose arrogance led her to speculate that my baby probably had brain damage. My world was shattered.  Not just the emotional collapse of having a child with an unidentified syndrome, but my faith in the hierarchical system that my father led me to believe was infallible, was shattered.

Thus began the long haul to adulthood.  Three years of listening to doctors make vague assumptions about my child’s condition and coming up with nothing substantial finally led me to an article in an Australian Woman’s Weekly magazine.  There was a picture of a young man with Prader-Willi Syndrome and a photo of him as a baby.  It was a very real Damascus experience, and, armed with the article, I went to see the Professor of Paediatrics at Wellington Hospital.  He diagnosed me as an “over-anxious mother” and sent a letter to my own GP stating as much.  By this time, I knew I was right and I knew with my whole being that this was the answer.  Smashing at the doors of hierarchy I demanded a second opinion.  My three year old daughter was duly considered by another specialist who gave her blocks to play with, crayons to draw with, and concluded that she was “delayed”.  Coincidentally, as she ushered me to the door, she pointed to a young girl about 8 years old and said, “now, that girl has Prader-Willi syndrome, you don’t think your daughter has anything like that do you?” 

Why on earth couldn’t she see what I could see?  For me, it was like looking down a telescope of years into the future.  It was the start of a long search, and, bearing in mind this was pre-Google days when everything had to go by post, it was a lengthy process.  Everyone who came in contact with my daughter – speech therapists, physiotherapists, doctors, specialists – were all taken to task by her over-anxious mother.  The breakthrough came when I burst into tears, banged the table and yelled my frustration to an occupational therapist that no one ever listened, that she looked quietly at me and said, “I have a child with Down’s Syndrome, I do understand.  I will find an address in America of the PW Association for you.”  And she did.  I am still in her debt.

Little by little I began to piece things together.  It required patience and an understanding of things medical and scientific that were way beyond me.  I read everything with a medical dictionary beside me.  I made lists.  I compared characteristics.  I ended up at the IHC (major service provider), in tears again, asking why no one knew what Prader-Willi Syndrome was, for by now I was very certain this was the diagnosis.  I was listened to and given, not sympathy, but tools to work with: names of parents (this was pre the Privacy Act, when contacts were easier to come by), a small amount of funding to set up a support group, and more importantly, some confidence to work with.  Their support over the years has been generous, willing, and very enabling. 

That was 29 years ago and the beginning of what now is the New Zealand Prader-Willi Syndrome Association; a very pro-active, knowledgeable, and keenly aware group of parents who are prepared to fight for the rights of their children.  They now know far more than I ever did, the diagnosis of their babies is made not through the pages of a weekly magazine, but quickly and accurately through the microscopic thread of DNA.  They do not have to search the world for information, support, and a handbook of What To Do; it has all been done by others before them.  The increase of scientific knowledge has been extremely rapid: the discovery of a small deletion on 15th chromosome which is the cause of PWS and is also linked to obesity (now giving scientists and drug companies a huge incentive to find a ‘cure’); the discovery that growth hormone treatment will vastly improve the physical ability and body composition of a child; a far greater tolerance of people with disabilities, and a greater understanding of what is needed to make their lives rewarding and fulfilling.
At what cost?  I look back over 34 years at the early struggle to have my daughter even diagnosed, let alone find support; so far we've managed to get through every Christmas,  Easter, birthdays -  times when family and friends come together to eat, drink, be merry, relax and enjoy the good times - but for us, and other families where there's a child with PWS, it’s a time of watchfulness, of making sure cupboards, refrigerators, pantries, are locked and secured.  Of locking the drinks cabinet, of hiding wallets, purses, and loose change.  Of trying to persuade people not to give chocolates, cakes, and sweets as gifts.  It’s a time of stress for all. 

The cost to any family is enormous.  The sacrifices, sibling embarrassment, heartache, despair and all the "if only's".  Then there’s all the stress, strife, arguments and self-pity.  That’s the price, and you pay for it with guilt, tears, and love.  We owe a great deal to those who went before us, and we are ready to help and support those who come after us.  It's a different road we take, but it is one of much more awareness these days.

 The month of May is PWS Awareness Month

 *Rob Muldoon, Prime Minister of New Zealand 1975 to 1984
** Youngest female MP and staunch Women's Liberation advocate

Friday, March 30, 2018

Body Mass Index in Adults with Prader-Willi Syndrome

Contributed by Susanne Blichfeldt, Georgina Loughnan, Jackie Waters. IPWSO

Body Mass Index, or BMI, is an approximate measure, based on a person’s height and weight, to indicate if they are a health weight. It is calculated by dividing a person’s weight in kilograms by their height in metres squared. You don’t have to get our your calculator though – there are plenty of online calculators which will do it for you, such as the NHS Choices one at

BMI is divided into a number of ranges

·       below 18.5 – underweight

·       18.5 – 24.9 – healthy weight

·       25 – 29.9 – overweight

·       30 – 39.9 – obese

·       40 or above – severely obese

You may also see BMI depicted as a chart like the one on the right.

How might BMI be different for people with PWS?

Remember, BMI is only an approximate measure. It does not take body composition (fat, muscle, bone) into account. People with PWS generally have a different body composition to most other people, with a greater proportion of fat to muscle mass. For instance, for an active, 150 cm tall person with PWS, weighing 80kg, who does not have difficulty moving around, lean body mass (ie muscle, bones and inner organs) will most often be around 35-40 kg. The rest is fat.

A DEXA scan (dual energy X-ray absorptiometry) is recommended to evaluate the amount of muscle and fat in the body. It can also evaluate the amount of calcium in the bones of adults, and check if the person has osteoporosis, which is quite common among adults with PWS. It is generally recommended that adults with PWS have a DEXA scan every 2-3 years.

It is also very valuable to know the amount of lean body mass, when medication is prescribed, because most medication is primarily distributed in the lean body mass. Too high doses of medication may easily create side effects if the doctor is unaware of the person’s low lean body mass.  A DEXA scan is easy to perform. A GP can refer you to the appropriate hospital service for this.

Those who have lost a lot of weight may also have excess body skin which can lie in skinfolds on their bodies.

Georgina Loughnan, who is an advisor to the International PWS Organisation, and works at the Prader-Willi Syndrome Clinic, a part of Metabolism & Obesity Services, Royal Prince Alfred Hospital, Camperdown, New South Wales, in Australia, says: 

“Regarding having all clients reach a healthy weight Range of BMI – 20-25kg/m2, I have several clients who are in this range now and yes, some, after losing much weight have excess skin on arms and legs. However, with regular effective exercise as a major part of their weight loss programme some have minimal excess skin. I have had several people lose over 50 kg (2 lost 75 kg) and had small abdominal aprons (excess abdominal skin) that just needed to be well washed and dried, but gave them no problems. The key is consistent exercise for the whole body, which is so essential for healthy weight loss.

However, reaching a BMI of 20-25kg/m2 should not be the aim for all people with PWS. A better aim is for a healthy weight that reduces comorbidities and improves physical ability and lifestyle. This is far more important and can be achieved in the overweight BMI category of 25-30kg/m2.”

Dr Susanne Blichfeldt, also an advisor to IPWSO, concurs that exercise is the key. She says, “Just sitting and losing weight means that you lose both muscle and fat tissue, so it is important if you are on a diet to move a lot. Walking is perfect, and swimming and gym are also good to build up muscles.  It is more important to have a weight that does not compromise motor activity, than to try to reach the 20-25 target”.

Does growth hormone treatment make a difference?

According to a Scandinavian study, growth hormone treatments in adults will add about 2 kg more of muscle mass  and 4 kg less of fat on average. However, worldwide there have been no large-scale longitudinal studies of the effects of growth hormone (GH) on muscle mass in adults, and only a very few adults with PWS in the UK receive it, as it is only licensed by NICE (National Institute for Clinical Excellence) up to the age of 18 years in PWS.

BMI and Children

The BMI values mentioned above are to be used for adults only.  BMI charts for children also exist for each age group and, in general, BMI values for normal weight children are lower than for adults, because of a different body composition in children. Normal BMI values are lowest in the youngest age groups.  As all children grow at different rates, you should take the advice of your consultant or dietitian as to whether your child is a healthy weight and developing along the right centile for PWS. 

Thank you
Many thanks to Dr Susanne Blichfeldt, MD, senior consultant and paediatrician, medical advisor to the International PWS Organisation and it Clinical and Scientific Advisory Board,  and to Georgina Loughnan for their contributions to this article and for checking its medical accuracy.

Friday, March 23, 2018

What happens when I get too old?

It's a question I wake up at 3am and wonder about.  And I think this is a question that many of us older parents have started to ask in earnest.  Let’s face it, most of us have been around the PW world for 30, 40 years, maybe even longer depending on our now-adult son or daughter's  age.  When you stop to think,  PWS wasn’t really acknowledged until 1957 when it was described as a condition with a short life-span with major obesity problems, and very little good management procedures.  Knowledge  didn’t really take off until the internet took charge some 30 years later.  Many of us were the generation that forged the PW-pathway, stumbling over rocks and boulders, tripping over roots and blindly turning corners as we went.  So many of our kids didn’t have the benefit of growth hormone treatment and with exercise being that much harder for them with their low muscle-tone, we faced a life of eternal vigilance of food and exercise.  Exercise and food.  And all the challenges that go with that.  It seemed like a lifetime imprisonment with little or no time out for good behaviour!  Schools weren’t really aware of the unique needs of PWS, families had a hard time coming to terms with their ‘different’ sibling, grandparents really didn’t understand, and as for any work placement – well, there was just so much that employers needed to put in place and provide that most of the time it was more often than not just put into the "too hard" basket.  

Our kids are living longer and that ‘short life-span’ that was always talked about 30 years ago has now disappeared.  With the right kind of information, support and management, there’s nothing to stop anyone with PWS from living a long and fulfilled life.  Except that we  parents are growing older, and we are growing tireder.  Although their life-span may be longer, their IQ and competency levels are not any more mature than they were when they were young teenagers.  Sons or daughters still living at home require just as much attention, chivvying, encouraging, as when they were little as that ability to do things for themselves is severely limited.  As parents become tireder and tireder, we ask what are we supposed to do?  We feel guilty if we are not doing the ‘right thing’,  providing enough exercise, enough vigilance.  Many of us can pinpoint illnesses that we experience to the care and worry of providing ongoing support for our sons and daughters: high blood pressure, fatigue, anxiety, heart problems, and more.  It is of real concern that we have a plan in place in the event of our not being able to physically provide care any longer.
Some countries have residential care, but little specialised (ie PW) choice.  Some have good residential providers, and in some countries this simply isn't an option.  Good caregivers can be few and far between.  Not every agency can provide what our 'kids' need and even if we find a good residential care placement, parents still worry and live with anxiety that things will go wrong.  As parents we don’t want to burden other children/adults in the family with the ongoing care responsibilities, nor do we want our adult children (PWS) to go into State care.  
Some of us want to be able to enjoy our last few good years!  We want to knock a few things off that “bucket list”, to travel, or to spend time with other members of the family; we want to go out for a meal, go to the theatre, visit friends, without having to make arrangements for ‘time out’.  
We are asking, what next?  Who will look after my adult child?  How will I provide for them?  How can I provide the management that they need, the exercise and daily walks, outings if I'm not physically able to do this?  And, when I die, how will they manage without me? 

As for me, well after a few 3am consultations with myself I spent some time with a lawyer who explained what I could do to prepare for the eventuality and hopefully in my country it will be enough.  

I really do need to start sleeping again!

Tuesday, March 6, 2018

I'll tell you what I want, what I really really want!

The other day I listened to my daughter as she picked up the phone, dialled her bank and started to explain what she wanted done for an automatic payment to go to into my account.  She was polite, completely engaged and knew exactly what she wanted.  I have to say that I was impressed. 

She explained that she had special needs and that her benefit covered so much but that she wanted to make sure an extra $5.00 went into her Mum's account so as she could pay back the money she borrowed. She knew exactly what to do and how to do it.

It started me thinking about all the things our kids know how to do and how so many manage, to get by in the world.  There is so much they can do and understand, but the potential for failure and the potential for being misunderstood, not to mention the potential for fallout from unthought-out consequences is high.  Which means that someone in their lives must be one step ahead the whole time. 

My daughter likes to go shopping, wants to have lay-bys, wants to buy presents for everyone,  The consequences don't matter to her because she lives in the here and now.  Warnings about  running into a lot of debt simply pass her by because there's always another payday, The idea of saving money is an anathema to her - what good is putting money aside to spend later when you can spend it today?  Her idea of saving money is to buy from op-shops (and who can argue with that)!

The concept of something unforeseen such as a vet fee for the cat, an unplanned visit to the doctor, a need to go to the dentist, or to make sure there is catfood in the cupboard at the end of the week, is as absurd to her as water-divining.  Much better to rush out and buy the boyfriend a Valentine's Day present in the hope of getting something in return!

She's quite happy that her bank balance comes in as zero each month as it's better to owe money in lay-buys, or 'next month' for the doctor, than to see money resting fretfully in her bank account.

It's difficult to argue with mainly because she will agree with everything I say... then go out and do exactly as she pleases.  And, I have to say that I am fully expecting the $5.00 per week to be uninstated any time now!

There's always another day...

Sunday, December 17, 2017

Holiday Hiccups

Food for thought?

 Although everyone loves holidays, this time of the year (whether in southern summer or northern winter) can often be more stressful than most.  It seems that we dedicate days to eating! And with family gatherings, and more meals, and lots of laughter and fun, it's often the person with PWS who finds it most difficult; too much temptation, food left out, people not watching.  The main characteristics of PWS are brought sharply into focus - the desire to eat as much as possible and whenever possible.  We all know the pitfalls...

The most worrisome outcome of overeating, or bingeing, is that of gastropaersis which may go unnoticed if your child does not complain of pain, or is usually trim because of Growth Hormone treatment.  Please be aware of the symptoms and characteristics of this dangerous issue. 

The very sad account of a 24-year-old man with PWS who presented with "abdominal pain, nausea, and emesis 3 days after ingesting 8 pounds of raisins and 48 ounces of peanut butter during a food binge"  -  luckily after some serious surgery, he survived.  Ref

I always remember one mother who had a t-shirt made up for her little boy which said "If you feed me, my mother will slap you!"  I know - not necessarily politically correct, but she was at her wits end and it worked!

If you will be with relatives, carefully plan ahead of time and communicate the importance of food control with all involved. Make sure all attending know the “rules of engagement” and agree to cooperate.  

We  have some good holiday hints written by Janalee Heinemann and our  Guidelines which may help you with practical advice including:

  • See that someone at all times is clearly in charge of your child with PWS.  Clearly define when you are “changing guards”.  As Dr Linda Gourash states, “When everyone is in charge – no one is in charge.” 

  • If your child is old enough, rehearse the “rules” before the special  day and come to a mutual agreement on what your child will be allowed to eat.  You can barter, i.e. “Do you want a little extra turkey and dressing, or do you want a piece of pie as your special treat?”

  • It is okay to request that Grandma and other relatives tuck away tempting items during your visit and to discreetly check with you prior to offering your child a treat.  (Don’t check with the child!)

  • Make sure you know what everyone is bringing, so there are no surprises on what the choices will be. 

  • Grandpa and Grandma, or aunt and uncle may want to bring a special gift toy to compensate for the food they have to deny your child. 

  • Go over with the hostess or your family on how to contain the accessibility of food.  See to it that where your child is sitting there will not be a lot of bowls of food, rolls, or condiments nearby (Many people do not consider how many calories our children can consume with the extras – sugar, butter, sauces, gravies, etc.) 

  • After eating, when people are just visiting, see to it that if the food cannot all be put away, someone is responsible for guarding it. 

  • Your child must have the security of knowing you will be strong in your commitment to keep them protected from food – in spite of themselves.  Giving in, even once, means several battles ahead.  I know you get tired of hearing it, but consistency is the key. 

All worries aside, we hope you enjoy the break as much as possible and can look forward to 2018 with confidence!  We will be here to support you all as much as we can.  

Tuesday, November 28, 2017

This BIRD has wings!

40 years awareness for “Rare disease” – Anna and Giuseppe Baschirotto
My visit to B.I.R.D. in September 2017

by Verena Gutmann (IPWSO Board Member - Austria)


Some weeks ago I visited B.I.R.D. Institute (Baschirotto Institute of rare disease) in Longare di Costozza, a sleepy little village near Vicenza.  The agreement between B.I.R.D. and IPWSO needed to be confirmed again and signed.  

The B.I.R.D. Institute makes it possible to perform the IPWSO diagnostic molecular tests which allow confirming or excluding the Prader-Willi Syndrome in countries which cannot afford the special technical equipment to provide the diagnosis on site.
This is the only life-sustaining option for many affected families to care appropriately for a person with PWS.

It is very impressive to see how much mail the institute receives from all over the world. Even test samples on simple coffee filter paper arrive when laboratory filter paper is not available.

Last time I visited B.I.R.D. was in 2002, when Giorgio Fornasier, father of the now 40 years old Daniele with PWS and the former president of IPWSO, organized the IPWSO members meeting of 25 nations at B.I.R.D. That was a truly emotional meeting!
Giuseppe and Anna Baschirotto
Today, 15 years later, I was really impressed by the Baschirottos. Their life´s work is characterized by their never ending support and their confident empathy.  Mauro, their son, died at age 16 because of the now known Apeced autoimmune syndrome. It was then that they decided to support research and therapy for rare diseases. Today, a very dedicated team of molecular biologists, human geneticist and MD´s make it possible to diagnose rare diseases like Prader-Willi Syndrome, Apeced Syndrome, Lesch Nyhan, Krabbe Disease and Metachromatic Leucodystrophy.  Outpatient medical care and rehabilitation programs are also offered on this site. In former times the property was the summer residence of Venetian aristocrats. Later on nuns used it as an orphanage, before finally the Baschirottos became the owners.

It is of great importance that affected families can meet and share in this special environment. They can experience here that support is offered and that they are not alone in this situation. Because of the close contact with Giorgio Fornasier, the Prader-Willi Syndrome found particular attention at B.I.R.D. 

PWS rehab camps are offered here twice a year. During these camps, PWS individuals and their families benefit from medical care and also learn more about PWS management.
Beside the DNA diagnosis, PWS genetic research is conducted here. Currently test samples of four PWS patients are kept here under special conditions (temperatures of -80° Celsius) because the financial support of the Canadian Foundation of Prader-Willi Research for the project  "Insulin driven-translational capacity is impaired in fibroplasts of  Prader-Willi Syndrom" ended. A new sponsor has to be found...
Tests are kept at -80C
It was such an impressive experience for me to meet a couple like Anna and Giuseppe. Their charisma, their commitment and their humor are priceless, and their encouragement to keep supporting PWS families worldwide is much appreciated.

(IPWSO expresses its huge gratitude to the Baschirotto's and their team of staff who make many PWS diagnoses for families around the world.  All PWS diagnoses are subsidised by IPWSO and free where this is otherwise unavailable.)