Sunday, 30 January 2011


La Fondazione BIRD

BIRD stands for the Baschirotto Institute of Rare Diseases  This institution is in Italy, near Vicenza in the north.  For many years, IPWSO has had a close working relationship with BIRD and the Baschirotto family, and BIRD has become central to IPWSO's ability to provide free diagnoses for children and adults with PWS, particularly those coming from countries where this is not available. 

The story behind BIRD is simple.  Anna and Guiseppe Baschirotto had a son born with a rare disorder for which, at that time, there was no cure.  When their son, Mauro, died, Anna and Guiseppe determined that they would help as many families where children were born with a rare disorder, as possible.  They instigated the BIRD foundation in 2004 (picture above) where not only there is an internationally recognised laboratory for the diagnosis of rare diseases, but also a rehabilitation centre for therapy and attention.  Currently, there are free diagnoses for 5 molecular disorders including PWS

IPWSO's Chief Executive, Giorgio Fornasier, brought BIRD to our attention back in 2004 and, with the support of Pfizer's sponsorship, IPWSO has been able to offer free diagnoses to countries throughout the world, and has now done this for over 140 children and adults.

Sending a blood sample is easy.  All that is required is a drop of blood on blotting paper, and post this in the mail to the clinic.  If you are aware of anyone requiring this, in countries where diagnosis is not freely availabale, please, in the first instance, contact Giorgio Fornasier:

Read more about BIRD on our website:

And in our March 2009 Wavelength. 

Tuesday, 11 January 2011

Self-harming in PWS

I would like to talk about self-harming in PWS.  I know there is academic interest in self-injurious behaviour in PWS, but remembering that I am not a medical person, my conjecture and thinking comes from purely a parent's point of view, so if you can bear to read a lengthy post, here goes: 

Some conjecture and thinking

Usually self-harm in PWS is connected with skin-picking, particularly where the picking is intensive and becomes harmful, not allowing the wound to heal.  It is also associated with the high pain levels characteristic of the syndrome, coupled with an element of boredom and often elevated anxiety.  Clinically it is dealt with in a variety of ways including anxiety-lessening medication, special bandaids, aloe vera for healing properties, and giving the person something to do with their hands. We are all well aware of this characteristic and have learned over the years to deal with it, one way or another.  

It is generally regarded that those with the paternal deletion will skin-pick more than those with the maternal disomy.  My daughter, Francie, has the mat. disomy and doesn't skin-pick very much at all.  However, when Francie was 24, she started to show some other alarming self-injurious behaviour (head-shaving, pushing a needle completely into her arm; and cutting when she could find an instrument sharp enough) and I began to wonder whether the same psychological reasons for self-harming in the normal population could be attributed to those with an intellectual disability.  As a parent, I always want to know more.  I want to know what is going on for the person, what’s happening in their heads, what are they anxious about, why are they bored, is self-harming just an endorphine rush they’re after, is there something we can do as carers, or is it just a clinical thing we have to accept?  After looking through many internet sites, I have summarised my findings below.

Self-harming in the normal population[1]
Self-harming in the normal population is not uncommon.  Those who self-injure do not suffer from any recognised form of mental illness, although many people with mental illness have a higher risk of self-injury.  

The key areas of illness which exhibit an increased risk include depression, phobias and conduct disorders.  There are other areas of risk in the normal population such as abuse, a punitive environment, bereavement, troubled parental relationship, and other social factors.

Although the person may not recognise the connection, self injury often becomes a response to profound and overwhelming emotional pain that cannot be resolved in a more functional way.  It provides temporary relief of intense feelings such as anxiety, depression, stress, emotional numbness and a sense of failure or self-loathing. It can become the only way to manage emotional pain.  The release of endorphins, creating a short burst of pleasure, can become sought after repeatedly if the initial problem has not been resolved and this becomes a means to managing the emotional pain.

The model below shows two motives, hyperstress and disassociation. 

·         Hyperstress can cause a person to want to opt out, to avoid contact with reality and  to concentrate solely on their ‘self’

·         Disassociation may be described by the person as feelings of emptiness or numbness, feeling detatched from life, and feel the need for physical pain as a   relief from these feelings – to help them function again.  
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Psychiatric and personality disorders are common in individuals who self-harm; depression and other psychological problems.  Explanations for self-harm are difficult to analyse or even understand.  Many people say that they wanted to punish themselves.  Most use self-harming as a coping mechanism.

Is it reasonable to assume that any of these explanations could be the same in the PW population?

Self-harming in the PWS Population
Two things that we do know may help shed some light on this:
·         The older female population (20-30 year olds) with the genetic diagnosis of maternal disomy, show a tendency toward psychotic behaviours
·         There is a cross-over into the Autism spectrum for behaviour           

From a paper on autism, I found some suggested causes and wondered whether these might be attributable to PWS as well:

  • Emotion regulation        Individuals with borderline personality disorder and suicidal individuals are frequently emotionally intense and labile. They can be angry, intensely frustrated, depressed, or anxious.
·         Genetic        Self-injurious behavior is also common among several genetic disorders, including Lesch-Nyhan Syndrome, Fragile X Syndrome, and Cornelia de Lange Syndrome. Since these genetic disorders are associated with some form of structural damage and/or biochemical dysfunction, these abnormalities may cause the person to self-injure. Most commonly in this group, these self-injuries are self-biting (lips, fingers, around mouth) and face-hitting.

Could PWS, also a genetic disorder and associated with damage to the hypothalamus and psychological dysfunction, presuppose a cause for self-harm?

·         Arousal
It has often been suggested that a person's level of arousal is associated with self-injurious behavior. Researchers have suggested that self-injury may increase or decrease one's arousal level.
·         The under-arousal theory states that some individuals function at a low level of arousal and engage in self-injury to increase their arousal level (Edelson, 1984; Baumeister & Rollings, 1976). In this case, self-injury would be considered an extreme form of self-stimulation.
·         In contrast, the over-arousal theory states that some individuals function at a very high level of arousal (e.g., tension, anxiety) and engage in self-injury to reduce their arousal level. That is, the behavior may act as a release of tension and/or anxiety. High arousal levels may be a result of an internal, physiological dysfunction and/or may be triggered by a very stimulating environment. A reduction in arousal may be positively reinforcing, and thus, the client may engage in self-injury more often when encountering arousal-producing stimuli (Romanczyk, 1986).

In PWS, this second theory would clearly relate to different forms of arousal such as temper flare, trashing, smashing, injuring. 

The following interventions suggested are related specifically to Autism and not necessarily PWS.
1.      If the person is under-aroused, an increase in activity level may be helpful. For example, an exercise program can be implemented (e.g., stationary bicycle).
2.      If the person is over-aroused, it is recommended that steps be taken, usually before the behavior begins, to reduce his/her arousal level. This may include: relaxation techniques (Cautela & Groden, 1978), deep pressure (Edelson et al. 1998), vestibular stimulation (King, 1991), and/or removing the person from a stimulating situation.  Exercise may also be used to reduce arousal level.

·         Frustration
Caretakers and parents often report that self-injury is a result of frustration.[2]  Commonly reported scenarios include: a person with poor communication skills becomes frustrated because of lack of understanding or because the caregiver does not understand what is said/requested; or an individual who has good communication skills but does not get what they want.

This lack of understanding certainly relates to frustration and a rise of anxiety in the PW world (in fact, in anybody’s world).

  • Self-harming such as skin-picking, or other deliberate self-harm, may arise from frustration and anxiety over not being able to be heard or understood.
  • Self-harming may be a form of repetitive behaviour arising from boredom, or a desire to disassociate oneself with the outside ‘non-caring’ world
  • And, maybe, self-harming for a person with PWS is their only method of regaining self-control as a result of a situation that has become out of hand, too large for them to understand, or that they have already been in good control and this has not been able to be maintained, melt-down has occurred and self-harm is the radical result of their trying to regain self-control.
Maybe our management and caring for those with PWS who self-harm should have a deeper understanding of the reasons behind self-harming before we go looking for medication, or accepting skin-picking as just a characteristic of the syndrome.  I have been recommended to have my daughter assessed by a behavioural psychologist, and this I will do, but I needed to work out for myself some of the underlying reasons behind the behaviour and in so doing, would like to share this with others and hear from any of you who might have experienced the same concerns.

[1] Understanding and Treating Self-Injurious Behavior by Stephen M. Edelson, Ph.D. Center for the Study of Autism, Salem, Oregon

[2] This is consistent with the traditional Frustration รจ Aggression model proposed by Dollard and his colleagues (1939).

Monday, 10 January 2011

Writing styles

I came across a card written by Francie the other day and wondered why do people with PWS all write the same?  Has anyone else noticed this?  And then I wondered whether all people with disabilities write similarly, and that led me to wondering why.  It took Francie a long time to learn to write - in any style - and she had to have a special triangular grip thing on her pencil so that she could hold it better.  Francie has never had GHT, so I don't know whether that would make a difference as far as the writing style goes, but it's never really changed over the years.

Would anyone like to hazard a guess, or offer an opinion?

Sunday, 2 January 2011

Social Adaptations

by Linda Thornton 

In thinking about social adaptations when dealing with PWS, two things come to mind:  How easy life would be if the issues around food weren't there, and second is what part the pressure of success plays.

Let's look at "success".  What does it mean to succeed?  The dictionary says it means to be good at something, to increase your fame, social position or financial gains.  The pressure put upon us these days to do just this is enormous.  We pass it on to our children in the form of 'expectations'.  These then become goals and the pressure is reapplied… and therein lies the crunch – success, or failure.

We all do it to a greater or lesser extent.  After all, we want to succeed and we want our children to succeed.  Then, along comes the child who fails the very first expectation – that he or she will be 'normal'.  And our world crashes.  We are faced with a dilemma of enormous proportions:  suddenly our idea of success seems to have become a failure; we start blaming ourselves, blaming the doctors, blaming anything that comes to mind as we look for reasons why we have failed to produce perfection.

And after a while we start to look at perfection and success in a completely different light.  We have to.  In fact, we are forced to, if we want to be able to cope.  Goals have to become quite different.

There are, to my thinking, two new mindsets here: 

The first is that we recognise that many of the goals we set for our children are in actual fact, goals that we are setting for ourselves.  We want our children to succeed because it reflects well on us – it makes our parenting skills look good.  It makes our family look good, it makes you and me look good.

The second is that we learn to figure out what it is that our kids with PW need to survive in this world, and make their goals our goals.  Not the other way around.

The second one is the hardest, and will take the longest time.  We have to learn to look at priorities differently (is it a priority that Johnny learns to crawl, walk, talk at the same time as the neighbour's child, or is it ok if he takes a little longer and does it in his own time?  Is it a priority that Susie learns to play the piano because her sister does, or is it ok if she plays with her dolls instead?)

We must learn to take the pressure off ourselves.  If Johnny can't get Growth Hormone Treatment from the minute he is born; if Susie isn't showing any signs of improvement on another treatment, we panic.  Our child won't achieve, won't be as good as the next one.  And so we reapply our own goals.  Sometimes it's just not going to happen and we have to accept that not all of our kids will get the treatment  that we want them to have.  They won't all be slim and beautiful.  They won't all compete in the Olympics.  They won't all achieve high scholastic marks; get a job; get married; have kids of their own.   And they won't ever, ever, not have Prader-Willi Syndrome.

What they will need, however, and what we can give them, are some excellent role models that they can look up to all their lives.  And guess who they're going to be?  Yes – their parents!  What you model to your children will be what they will model in their socialising.  And it's my guess that if we role model our expectations higher than our child can meet, setting them up to always striving to reach that unattainable goal, then we’re only buying into disaster.  If we role model our expectations to the level of the child, then we are buying back into that elusive 'success' model. 

So, for example, we don't role model that that the family car is the sole method of transport, but we model to meet the child's needs… and walk.  Or teach them to ride a bike, or use a tricycle, or let them push the pram.

  • We don't role model the fast-food outlet as the way we always get food; but we role model an enjoyable lifestyle by cooking healthy meals for all the family.
  • We don't role model that money comes out of a hole in the wall; but that pocket money can be earned in return for help around the house.
  • We role model that life in the slow lane can be fun!  Getting into the car and getting settled can take forever… but started earlier, taken slowly and at the child's pace can help avoid the build-up of stress – yours and his.
So let's look at the part food plays in this equation…

What does it mean to you to 'socialise'?  Well, it probably means to get together with friends and along with good food and wine, and good conversation, to enjoy yourselves with lots of laughter and companionship.

Or it might mean to go out to a meeting or gathering somewhere new and have a pot-luck dinner and make new friends.

Or it might mean getting together after a sports event, over a few jugs of beer and a quick take-away meal and going over the game in fine detail.

It might just mean bumping into someone in the supermarket you haven't seen for a while and going for a cup of coffee and a bite to eat to catch up with each other.

Whatever it might mean to us, socialising always seems to have one common denominator: food.

It's how the world goes round.  Or is it?

We gather at our conferences from the four corners of the earth; from different countries and different cultures.  But the one thing we have in common is our children.  And the one thing they have in common is that they are not like the rest of us.  They cannot simply sit down and share a meal, or go to birthday parties, or picnics, or even to Grandma's, without a lot of preparation and planning beforehand.

Again – lots of expectations, lots of pressure, and once again we have to think very carefully what that means to us… and what it means for them.  Life around food is never going to be normal for our kids with PWS and sure as eggs are eggs, it's going to change our whole perspective around food as well!

When Francie, my daughter, was born some 26 years ago  there was very little knowledge about PWS.  I learned about it from a women's magazine which had an article about a young man in Australia who couldn't stop eating.  When I took this knowledge along to the paediatrician, it was (predicably) discounted.  After all, I was "only a mother", how would I know how to diagnose?  However, we did have a blood test done, but in those days there was no FISH, no DNA diagnosis, no methylation testing, so the diagnosis came back as normal.  (She's maternal disomy.) But as I continued to struggle for a diagnosis, I decided to assume it could be this weird thing called PWS and to watch very carefully for clues.

My first clue came at a birthday party when Francie was about 3 yrs old.  She was the last person to leave the table, and had to be taken away kicking and screaming.  My next clue came when she developed a passion for church and particularly going to receive Communion.  She would stomp up to the railing saying loudly "I want bread!"  My final clue came in hindsight when I realised the first word she pretty much ever learned was "morningtea".

Armed only with knowledge from the Women's Weekly magazine, I sought help via 'snail mail' – no email in those days – from the States and England, and soon confirmed in my own mind that Prader-Willi Syndrome was what we were dealing with.

Socialisation became a problem, I didn't know how to cope with this child who seemed determined to eat everyone out of house and home.  So for quite some time, I stayed away from events that included food; I dreaded Easter and Christmas, and loathed birthday parties.  
It took a while for me to realise that what I actually dreaded was having to tell people that there was something wrong with my daughter.  At that time, it was one of my biggest adjustments.  Nowadays with all the information in the world, I can do this very easily.  I have a bunch of pamphlets at home which I hand out on appropriate occasions.  I can talk about PW in my sleep.   Each time Francie makes a new friend; each time we have to go out somewhere that includes food; each time she is invited to join in… along go the pamphlets.

I have to say, though, that as she has grown older, she has become very plausible – well, ok, "manipulative" probably is a better word – and if I don't get in first, she can outwit anyone. 

She is a very smart kid.  I wish that I could harness that smartness into something productive.  She already has.  Recently we have moved from the country to the edge of a small town – a really small town – where everyone knows everyone else and what they had for breakfast.

A while ago, when Francie was much younger, I was accosted by a neighbour I hadn't yet met.  "Your daughter has been over to my place 'collecting for the church'" she said.  "What??" I erupted – "she's been what?"  And the story came out that Francie had decided that collecting for the church could be quite a plausible way of getting money.  Fortunately the neighbour had second thoughts and told Francie she didn't give to anything without an envelope stating what it was for.  Quick as a flash, Francie said "haven't you got an envelope inside that you could use?  $2.00 would be fine!"

What Francie saw as an excellent source of funding, the neighbour quite rightly saw as daylight robbery, and I, well I'm afraid I saw the whole thing as hilarious.  More so, since the neighbour obviously had the measure of Francie, even though she had no idea who she was, or what she had.  I invited the neighbour over for a cup of coffee and a brochure the next day so as I could explain.

The concept of socialising a person with PWS, is going to revolve for all of their lives, around food.   And probably in spite of our best intentions, and no matter how quick we think we are, there will come times when your child is going to get the better of you.  And get the better of their teachers, their siblings, their grandparents, and neighbours.

It pays to try to be one step ahead.  Preferably, nine steps ahead.   It pays to wise up people ahead of time, and it pays to start early.  I should have been over to the neighbour before it had time to happen.  But I'm shy.  I don't like to introduce myself with a lecture on PWS; and I'm always hopeful the worst isn't going to happen.  Fat chance.

Giving people the right message at the right time is essential.  It's something I'm still not good at.  But by the same token, it's something that other people aren't good at hearing, either…

Francie recently had a boyfriend.  She went to his school leavers' ball.  She looked lovely and I was really proud of her and happy for her.  A few days earlier, I wised up his teacher who was going to be there with his group of Special Needs Leavers.  I told him as best as I could about PWS and asked him to keep an eye on what she ate around supper time.  I explained how difficult it was to manage her diet and how important it was.  Since this was the school that Francie would be going to in a matter of a few more months, I didn't go full out on PWS, figuring there would be time for that later. 

Francie had the time of her life.  The boyfriend, so handsome in his tux, presented her with a corsage, and danced with her all night long.  At 10.30pm when I went to pick her up, there they were, arms around each other in the middle of the dance floor.  Francie was practically asleep and must have rested heavy on his shoulder, poor boy.  I smiled happily over at the teacher who beamed back at me and said he'd kept an eye on her, and all was well.  She'd eaten (and he listed the food): 2 sausage rolls, 2 sandwiches, some crisps, 2 or 3 fizzy drinks, and a plate of icecream and jelly.

My fault.  Wrong message.  I'd told him to keep an eye out for her, and he had done just that.

It is more difficult as she grows older to control her food intake.  There are many more situations available to her that include food – from school lunches to supermarkets where they now have cooking demonstrations and food samples freely available.  Every social event includes food and it's difficult to persuade the rest of the world that a social event without food can be just as enjoyable; or if food is a requisite, then carrot sticks and fruit platters can be quite attractive!

And then there's the added pressure of not embarrassing them in public.  Now that she's 26, it's very important to her to be able to be a little more independent and not to have her Mum constantly in tow.

When she was 16, she decided that she was going to join our little local library.  I thought that was a wonderful idea.  A walk down to the library on Saturday mornings, a good choice of books, and to walk carrying them back was a fine idea. 

At first she told me it would cost $5 to join.  I didn't fall for that one.  We compromised.  I said she should walk down and join up and if it cost any money, to ring me and I'd come down.  She seemed fine with that.  Just before she left the house, I frisked her for any extra money (and food, despite locked cupboards).  Nothing.  So off she went.  Then the alarm bells sounded.

Feeling cross with myself for even entertaining the idea that she was cheating on me, I gave into my fears and drove down to the library.  There I saw her, sitting up in the mezzanine area with books on her lap and watching two little girls playing.  She was totally absorbed and didn't see me.  I was just about to chide myself for being so suspicious, and sneak away, when I thought no, I'll just let her know I'm here and see if there was a joining fee after all.  So I jauntily walked up the stairs and waved to her.  She looked at me as though she had turned into a block of concrete.  She fixed me with a horrified look and there beside her, I saw a large paper bag of sweeties.

Words failed me.  I stalked over to her and prodded her to her feet.  I grabbed the almost empty bag of sweets and marched her downstairs and out to the car.  I bit my lip and said nothing til we got home.  I sent her to her room and when I had calmed down sufficiently, I went and asked her what she thought she had been doing and where did she get the money from. 

She replied that she asked someone for money and they gave it to her.  My heart sank.  "You know what this means??"  I hissed at her, "You can never ever go out of this house now unless someone I trust goes with you.  You have destroyed my trust in you."

Then I asked "why, Francie, why did you do it?" and she answered, "Because I wanted to know what it was like.  Everyone else I know has pocket-money on Saturdays and goes to town to buy sweets."

And I thought to myself – how could I punish that?  How can I make a criminal case out of what is so normal? 

And I think that is probably the worst thing about PW.  It makes such normal things to you and me, so abnormal for our kids.  It sidelines them; it makes them different; it points them out.

Over and over again, we as parents have to be ready for this.  We have to judge for ourselves what is normal for us may not be normal for our kids.  We have to learn to say "no you can't" when to your child's sister or brother, to the rest of the world, the message is "yes, you can".   
And when we live in a society where food is all around us, where everything we do seems to have to include eating and that 'eating' seems to have to be junk food, it gets more and more difficult.  We try to teach our child with PW that junk food is bad, that we don't need it, and they see every other child often their own sisters and brothers, enjoying those forbidden fruits.

It's not easy – we all know that.  But the one bit of advice I will leave you with is this:  take some of the pressure off yourselves…take advantage of all the help that there is… keep on educating everyone who plays a part in your child's life… and keep on smiling!