The Therapy of Love

Daniele and "his" children

By Giorgio Fornasier  (Italy)

                                                                                          

My son Daniele was born 32 years ago and we were lucky that the pediatrician who saw him first knew about PWS and made a clinical diagnosis when he was 8 months old.

After he finished his studies at a professional school, he worked successfully in a couple of factories for over 11 years and was happy to live a life that looked normal to him. Two years ago, all of a sudden something changed dramatically and we think someone at work offended him saying he was a disabled boy without a future. He probably opened his eyes on a different reality and realized he was nearly 30 years old, most of his schoolmates were driving a car, had their own apartment and were married with children… He had nothing instead and no hope or expectations to have it in the future!

He fell into a depression, left his job and kept crying. He tried to find a way out and thought life was easier in South America where we went together and where some “friends” told him he could get as many girls as he wanted and he could get an easy life. He started speaking Spanish and changed his name with a Spanish one and got angry with anybody calling him Daniele. He also phoned travel agencies trying to get an air ticket to go to Paraguay and drove us a bit crazy.

Facing this crisis, we felt lost and desperate and took him to a specialized Hospital in Milano. For the first time in his life he had to take psychotropic drugs to overcome his paranoiac obsession and after a few months he forgot about his Spanish identity and was Daniele again.  But he was no more the lovely, cheerful and caring boy we knew and we had to accept this change and a new reality.

To worsen the situation ten months ago his brother Redi, who is only one year older, became father of a beautiful boy whose name is Alessio. You can imagine how happy we were, but Daniele wasn’t and strongly refused to be called as a uncle and did not recognize him as his nephew. Psychologists at the Hospital said he was jealous, but this was not the case. Our children with PWS are not stupid, they have a simple but clear and precise logic that we “normal people” often do not realize. To recognize Alessio as his nephew was the same as admitting his defeat and to be different with no hope to be a father himself too.

I took Daniele with me to Brazil last February to offer my wife a period of relief, as I was leading a group of 40 tourists to visit  the South of this Country where a large population of Italian origin lives. At the end of our program we visited Bairro da Juventude, an Institute run by an Italian Priest, Father Vincenzo Lumetta, who takes care of over 1,500 children who live in the poor and degraded outskirts of a town in Santa Caterina State.

 

Children who have not enough to eat or have not enough clothes and often suffer any kind of violence. Children who can have a future only in this house where they can find love, food, clean clothes and especially a good professional education, so they can get a job when they finish the internal school. As I am personally involved in helping this mission to support these children with individual sponsoring of Italian families that we call “distance adoption”, I always take people I lead on tours there, as they usually adopt many children and provide the money they need to be properly followed and continue their studies.

I was too busy to follow my group of 40 persons and I did not realize that my son Daniele chose a boy and a girl, took a form and filled it completely with all data to become their “father”. While I was in the office together with Father Vincenzo and had just made my annual donation to the Institute, the door opened and a shiny Daniele came in holding a boy and a girl by hand. He was excited, but at the same time he was afraid of my reaction, as he did something important without my permission. He first looked at me and then said: “Father Vincenzo, I adopted these two children!”. Father Vincenzo who knew about Daniele’s crisis smiled and said: “They are yours! Your father just paid one year fee for both.”

I will never forget the gratitude and happiness in my son’s eyes. He gave me a long strong hug and then introduced me to my new grandchildren João Pedro and Ana Alice. Then Daniele asked me to give him my mobile phone. He phoned my wife first and said: “Mom, I made you Grandma twice!”, then he phoned his brother and proudly said: “Now you’re uncle too!” and then he said the key magic words that made me cry and understand the nightmare was over: “How is my nephew Alessio?”.

A few days later I brought a new Daniele back home, the happy smiling boy we knew, more mature and more careful now. He was no more a child, but the responsible father of João Pedro and Ana Alice. Since then our life has changed and our son Daniele is a wonderful uncle to Alessio and went back to work as a volunteer guard at the local Municipality. He always talks about his children and proudly shows their pictures to everybody he meets, as all “normal” parents do. He writes to them quite often and they answer to him and have exchange of drawings they make, hoping they will be connected soon by Skype, so they can talk directly and see each other on webcam.

Once again our son with PWS is surprising us. He found the way out alone and the perfect solution to his problems. He did not know the causes, but he realized he could not have biological children in his life, so he found the easiest way to get his own family anyway. His life has changed completely and everything is finalized to his international family, so he is taking care to save or earn the money he needs to pay the annual fees, he often writes emails or letters to them and get organized to send gifts or wishes for their birthdays or for Christmas.  We plan a trip to Brazil with Daniele every year to see how our grandchildren are doing and this is really the best therapy we can offer our child and ourselves too… a therapy of love.

If anyone wants more information on Father Vincenzo’s program, they can contact Giorgio at g.fornas@alice.it.   Giorgio is the past president of IPWSO, the international organization for PWS, and is currently the Director of Programs for IPWSO. 

Smarter than Jack....

... is the name of a series of books that my daughter likes to read.  It's more of a catch-phrase in our household for just how clever those with Prader-Willi Syndrome can be.  She now lives in residential care with another young woman with PWS who is also smarter than Jack.  They've known each other since they were very young and have grown up together (well, as much as you can be with the geographical distances); sometimes liking each other, other times, well, just not.  It's the way of PW.  Especially when you're both smarter than Jack.

Locks are part and parcel of managing this syndrome.  Locks on food cupboards, pantries, refrigerators, and, if possible, on handbags and wallets.  This is because  the dysfunctional hypothalamus (two words I've learned to spell and pronounce with monotonous regularity)  does not have an 'on/off' regulator switch for the appetite.  Which means - bottom line - those with the syndrome can eat themselves to death, quite literally, if not managed on a 24/7 basis.  So, there are locked cupboards in our house, along with a locked fridge.  Siblings always resent this, and who can blame them.  It's unnatural, prison-like, embarrassing, and, well, just too different to be normal.  But for the one with PWS, it's seen as a relief.  It's a unpassable boundary.  It's safe.  There is no need to fret about food being such a temptation.  And, besides that, it's a total protection for what is seen as "my" food.  Sibs can't get at it, outsiders can't steal it, it's quite safe, and of course, if you're in residential care, staff can't help themselves to it either.

But, if you have PWS, and you're smarter than Jack, it stands to reason that locks are a temporary barrier, a challenge if you like, and let's see just who's smarter than whom.  My daughter and her friend live in residential care.  The locks are the best keypad variety with many, many combinations.  My daughter saw this as an 'end of story' limit.  Her friend saw it as a challenge.  For days and days she watched carefully as the staff punched in the code to open the kitchen.  Even though staff turned their backs and obscured her vision, she still watched and learned.  She counted the number of punches: four.  She noticed the "C" button was used first, and realised that staff then only used the top three numbers.  Still keeping quiet about her observations, she waited for an opportunity to test out her theory.  She punched the C button, then tried several options for the top line.  One of them worked.  She was ecstatic.

Friend made an executive decision.  She would not tell my daughter just yet as she would be "too over-excited".  She would wait until the weekend.  Quite often temporary staff were on over weekends and, because there was not necessarily a schedule, staff wouldn't be on their cases time-wise.  Careful time-watching gave the girls the chance they needed.  The code was cracked.  The kitchen was entered.  Cupboards were quickly opened.  Disappointment reigned as there was only "healthy" food :-(

There were water-crackers, though, and noodles.  Butter and jam was sneaked and a packet of noodles smuggled out of the kitchen.  Door was relocked and girls retired to my daughter's bedroom.  Guess what?  They decided they wouldn't eat raw noodles - good grief no!  They had a much better idea.  Back to the kitchen, out with a small stainless steel bowl.  This they filled with enough water to cover the noodles, and placed the bowl on top of the heater.  Friend decided to leave the bedroom "as staff would want to know what we were doing", and with instructions to call her the minute the noodles were soft, my daughter was left to preside over the cooking.  Apparently it took 15 minutes before the noodles were considered edible, but the surreptitious feast was made all the more delicious by the knowledge they'd been smarter than Jack.

Of course, it wasn't to last.  Although not caught at the feast, the friend was snapped early on Monday morning, standing in the kitchen deciding what to take next.  Discretion was not the better part of valour, and so the story of the locks came to a sad ending.  For the time being, I daresay.


(For dietary needs in PWS, click here)

Men and Grief

A very good friend of mine (also with an older daughter with PWS) reminded me of the early days, “back when…” and all the struggles we went through to get recognition for our children, to understand the syndrome, and to cope with the grief it brought with it.  That got me thinking about grieving and how it’s so ongoing with PWS, but as time goes on you tend to pick yourself up and carry on.  That reminded me of an article a father once wrote and submitted for a magazine I was editing at the time, and I thought it deserved a further look.  He wrote:

“I had been looking forward to the birth of our first child.  For months I had been fascinated by her movements inside her mother; at the beginning little fluttering and then as the months passed, stronger, more vigorous movements.  It was exactly what one would expect of a strong, healthy baby.

“I was present at my daughter’s birth, an experience that defied words.  All stories and films that had the birth of a child in them made much of the initial birth cry.  I was absolutely unprepared for our experience: she arrived without a sound.  I have a clear picture of the doctor holding her up, her little mouth shaped like a cry, but there was no sound.  I am unable to describe what came over me at that moment.  Words like “shock, disbelief” do not even hint at what I felt.

“My overriding reaction was what I can only call resignation; whatever would be, would be, and I had no power whatever to change any of it.  I was devoid of feeling.  That stayed with me for months.  The only thing that broke through my lack of emotion in those early days was a kind of subdued elation when our little girl would actually swallow milk from an eye-dropper which was the only way we could feed her.  Eventually our efforts weren’t enough and she had to be tube fed at hospital.

“At work, I was an automaton.  I have little recall as to whether I was happy or sad, warm or cold; I had no appetite.  I used to enjoy a drink.  I never tasted the stuff from this time for months afterwards.

“As the hospital, testing continued to determine what the condition might be; I became aware how differently my partner was responding.  She saw all tests as a challenge.  I was indifferent to the various tests and as each eliminated this or that possibility, she saw all these as major victories.  The diagnosis at this stage was ‘benign hypotonia’.  I was conscious that I was unsupportive.  My partner’s hopes were constantly undermined by my scepticism, actively negative, and yet I could not break out of the “what will be, will be” mindset.  While my wife wanted to talk about progress and development and testing, I just wanted to be left to myself.  I had closed off – little outside myself held any interest.  I ‘escaped’ into Wilber Smith.

“A friend was a good listener, but I could only share at a superficial level.  Talking was not helping as the overriding feature of ‘all this talk will not change anything’ undermined any chance of healing.  

“The second stage was marked by my waking one day and noticing the sun was shining.  I felt warm for the first time in months.  This time pin-pointed another stage: anger.  Wild mood swings, optimism (that our little girl would be ‘normal’ that she would outgrow this strange condition), followed by depression caused by the uncertainty of what the condition would mean long-term.  I cried more now – most nights.  Sleep was full of curious dreams and I would wake up exhausted.  But there was less of ‘what will be, will be’.  By now our little girl was drawing me more and more into her life.  I felt I was able to share more of my partner’s hopes.  The future seemed much less fixed.

“Eventually our daughter’s strange condition was diagnosed as Prader-Willi Syndrome.  It took me a long time to accept this.  I read all I could about the syndrome, the information coming from my partner’s research; a book here, a paper there, an article somewhere else.  After a time, I noticed a shift in what I was feeling.  The crippling resignation had given way to a hope that what was now did not have to be in the future.  My wife was already planning counter-measures for our daughter to run against the classic symptoms – extra help for learning, exercises to firm up the little muscles, games to keep her stimulated.

“Sometimes it seems a long time ago; more often, it feels like yesterday.  A kind of emotional evenness came when she was five and a wholeness at seven.  The anniversary is still hard, but my partner eases me through it each year.

“Yes, we men do cope with grief differently.  Education should enable us to cope better.  I hope so.”

 

Contributed by Linda Thornton

Let's talk about sex

In the past we swept the subject of sex under the carpet.  We knew that women with PWS menstruated infrequently, if at all, and that males were infertile.  Also, in those days, sex hormone therapy for males and females wasn't really an option, so the whole chapter of sexuality was closed for many years.  It was rudely opened in 1999 when the first birth of a healthy baby girl to a woman with PWS was recorded in Sweden.  This was followed in 2001 when a 32 year old woman with the deletion diagnosis was recorded as having given birth to a baby with Angelman’s Syndrome, in Denmark.  The third recorded birth was in New Zealand in 2004 when a baby girl also with Angelman’s syndrome was born to a young woman with a genetic deletion diagnosis.

Sex hormone therapy is now recommended for both males and females with PWS.  This “encourages the development of secondary sexual characteristics and potentially improves bone mineral content and density”

http://books.google.co.nz/books?id=Js81Pr1PmaAC&pg=PA171&lpg=PA171&dq=women+with+PWS+given+birth+to+child&source=bl&ots=WdkaahgMa7&sig=qYzjIz18-NjJaRKkzGGd5nKB8t0&hl=en&ei=kXERTsybAtHPrQeU-oCIBA&sa=X&oi=book_result&ct=result&resnum=4&ved=0CCsQ6AEwAw#v=onepage&q&f=false

It will also induce menstruation and the likelihood of pregnancy.  This means greater observance of lifestyle, good sex education and support, as well as a better understanding of how to cope with the resulting birth.  It is also recommended that males have testosterone therapy, and many youngsters are on growth hormone therapy and may well continue to be on GHT into adulthood.  Combined with sex hormone therapy, could this mean an increase in fertility? What about sex itself?  Marriage, even?   

Back in 1999 I visited a residential home in Seattle where a couple (both with PWS) were engaged to be married.  I asked the young man why he wanted to marry, and his reply has stayed with me ever since…”because I want to see her in the shower”.  I don't know whether they married, or whether they just lived together.   I know of another couple in Australia, she with PWS and he, not, who married.  I don’t know the reason behind that one!  

It used to be thought that marriage was too serious a contract for a person with an intellectual disability to enter into and that a person with PWS would be likely to walk out at the first sign of a melt-down.  Same as it was thought that a person with PWS should not drive a car as they would probably have road-rage.  However, I know of two people who have their driver's licence and have held them for quite some time, content to potter around their local town on their own.

Many of our young people want to experience a close relationship to "have" a boy or girlfriend, and nearly every young woman with PWS that I have met expresses a desire to have babies, to look after babies and to have them to cuddle and hold.  Most have a fine collection of dolls, or soft toys and many are genuinely wonderful with small children and babies.  However, I know from talking with the young woman's family in New Zealand, that there were many difficulties involved, even from the beginning when no one knew she was pregnant until a visit to the doctor in her last trimester brought the surprising news.  Birth was by caesarian section as they did not think the mother would be able to tolerate a natural birth.  The mother was overjoyed to have her own baby, but not so overjoyed when the baby cried and interrupted her dinner time.  Neither did she prove a natural mother able to care for a small baby or answer its constant demands nor did she express great interest or maternal instinct.  


What she did want, however, was for her baby to grow up quickly so they could live and travel together.  The baby has Angelman's syndrome and is cared for by the grandmother and sister while the mother is in residential care.  She does have regular contact with her natural mother, but the daughter's relationship, as one might imagine, is closer with her primary caregivers.


Somewhere along the line there has to be an extra element of responsibility and care from parents and caregivers alike.  There still needs to be educated and intelligent management and support around such important decisions as choosing to share your body or life with another.   There have been many changes in the way we care for and manage the lives of those with PWS, and doubtless there will be further improvements as we understand the needs of those with disabilities.  


At the end of the day, I expect every parent will share the same thought, regardless of whether there is a disability or not; "I just want my son/daughter to be happy", but let's make sure we know what they want, and how we can ensure that happiness and support.

Perspective on Challenging Behaviours

I came across an article on tantrums in children the other day.  It’s on the website: http://www.betterhealth.vic.gov.au/bhcv2/bhcarticles.nsf/pages/Tantrums?open

 

It described tantrums as being “a young child’s way of physically expressing feeling such as anger, frustration, hurt, and being upset.”  

And this has always been the way that I have seen a person with PWS expressing him or herself when all else has failed.  When something goes wrong and she is unable to explain what is happening, or that she doesn’t understand, or I don’t understand, my daughter with PWS will often revert to having what is described as a tantrum, or rage, or outburst.  It is frequent in PWS and is one of the deciding characteristics of the syndrome, and it doesn’t matter how old they might be, when they get to a certain point, this child-like reversion to tantrum behaviour is the only way they can express themselves.

It is important for us as parents or caregivers, teachers or residential providers, to understand that this is basically another form of communication when all else has failed.  The article goes on to say, “A tantrum is a young child’s way of physically expressing feelings such as anger, frustration, hurt, and being upset.”  And this is exactly what is happening to those with PWS.  It is also frustration in not being able to be understood, or to actually understand what is required of them.

In the online article, tantrums are expressed in the young child as “crying, screaming, punching, kicking, foot-stamping, running away, or going limp like a rag doll, throwing or breaking things…”   How very like a person with PWS this is! 

The young child “does not have the cognitive thinking abilities to plan their tantrums or use them to upset parents."  Neither does the person with PWS.  “Tantrums are simply a physical expression of the child’s feeling”.  Again, the same explanation for those with PWS.   The rages that can evolve from something that has triggered them off, are not planned in advance – they just ‘happen’ and often come out of nowhere.  The stressors for children are often “feeling tired, hungry, frustrated, overstimulated, or feeling stressed”.  Again, something we can easily recognise in PWS.

Of course, the major difference is going to be that tantrums are a normal part of child development and that children grow out of this as their communication levels get better and they feel more comfortable in themselves and in the world, whereas in a person with PWS this so often doesn’t happen.  The tantrums continue and are re-labelled ‘challenging behaviours’.  We must realise that just as tantrums in a small child are not ‘bad’ or especially naughty, so they are not in the person with PWS.

Recognising the triggers likely to set off a tantrum is the answer to successfully avoiding the behaviour.  Of course, we are not always so clever that we recognise the triggers each and every day, and neither are we born experts in the psychological management of avoiding difficult behaviours, but if we can start to understand the reasons behind the behaviour, then we are halfway there.  It requires great patience and control, often two things that, by the end of the day, we have totally used up!  This is when you mutter under your breath the prayer for serenity (only I call it the prayer for sanity):

God grant me the serenity

To accept the things I cannot change;

Courage to change the things I can;

And the wisdom to know the difference.

...and pour myself a glass of good wine.

Critical Parenting

There comes a time in parenting when you sometimes start to look at your son or daughter with a critical eye.  Are they shaping up the way you expect them to?  Are they a good reflection of the way you brought them up?  Will they be strong enough not to be weakened by corrupting influences around them?

We all do it, because we all want the best for our children.  Regardless of whether the child has special needs or not.

However, many of us are extremely critical of ourselves and set such high standards that others seem to fall by the wayside, inviting our criticism.   Often we seem to get more critical as we get older—life just isn’t ‘what it used to be!’ 

Having a child with special needs can sometimes make us even more critical, not necessarily outwardly, but inwardly as we compare our child’s “failings” with the next person’s child. 

By being critical we can build up a wall of protection against others—striking first before we are criticised.  There’s nothing wrong with being protective—heaven knows, it’s what we parents are best at… but criticism also has a darker side.  Ron Potter-Efron’s book, Stop The Anger Now (New Harbinger) says that ‘being critical of others:

• Helps me feel superior/dominant
• Convinces me that I’m right and you’re wrong
• Helps me avoid noticing my imperfections and faults
• Keeps me in control by making others appear weak, dumb or bad
• Is similar to what I do to myself.  I’m very critical of myself.
• Keeps me from getting too close.
• Is my way of trying to help, protect or guide others, even if they don’t like it
• Feels good

He says, “too much criticism of others can make you mean-spirited and cynical”.  Cynicism is the enemy of optimism and happiness.  It makes us aware of how easy it is to give in, give up.  Parenting a child, or even an adult, with PWS can often have this reaction.  Tiredness sets in, cynicism takes over, and the thought of another year with all the same battles just seems to be not worth getting up for. 

One of the best resolutions (New Year's or just today's) we could ever make is to be kinder to ourselves.  If we let go some of the expectations that come with ‘critical’ parenting, learn to appreciate and enjoy the smallest of achievements, we can re-charge our batteries and set different goals.  Goals that aren’t bothered by what the next person is doing or achieving; goals that aren’t rooted in materialism, or comparisons. Achievements that are as uncomplicated  as helping your daughter get her balance to slide down a gentle waterfall—just like everyone else.

Potter-Efron suggests, “make a goal for the next 24 hours to notice as many good things about the world and about other people as you can—do this every day for a month”.

It’s good advice for the weary and the cynical!

                                           

Residential Woes

Residential care is one of the most important things we need to think about for our children as they reach adult-hood.  This is something that IPWSO has taken very seriously, and, after two international conferences specifically designed for caregivers, a fantastic resource has been developed, "Best Practice Guidelines for Residential Care".  I wish this resource had been available when my daughter (now 27 yrs) first went into residential care. 

She has been in residential care since she was 18 years old.  At first, I thought she could manage in a small house by herself (with 24 hour staff care), but somehow this didn't work out.  Everything that could go wrong, went wrong.  She wanted to cook for herself (with supervision) and I taught her how to stir-fry food, something that was quick and easy.  But on many occasions she burnt the food and had to cook more (thus depleting the weekly allowance).  On other occasions she blamed staff for taking food from her fridge & cupboards.  She wanted to entertain and cook for friends, family and neighbours; she wanted to to try new foods, new recipes, and to do her own shopping.  After 4 weeks of this, we changed the rules.  Food would be cooked outside her house and brought in daily.  I did this myself for a number of years until staff took over and provided meals cooked off-site. 

Because meals were now controlled, she took to pan-handling in the neighbourhood.  She was extremely opportunistic and found money very easily (staff learned quickly not to leave cars unlocked, handbags unattended) and was blamed for missing money (creating denial melt-downs).  She executed brilliant reasons for needing hand-outs, money, cigarettes, extra food and so on.  One of the best was that she was a "solo mother with 3 children under 5 years old - one with a broken arm, the other who wet the bed every night, and the third who was just staring school.  Their 'father' looked after them during the week, but dumped them on her during the weekend and she had no food to give them."  When this ruse was discovered, "Elder Abuse" had already been called in as she was going around to not only choose the food from the cupboards herself, but cook it at the neighbour's house.

We shifted her to another house (still solo, but with 24 hour care) where there were no shops close by, but the neighbourhood was not great and neighbours were bullies.  She also managed to give her staff the slip and find new avenues of food, money, and, now cigarettes.  Six months later, we found another house with a beautiful little garden, no shops, and on a corner, so only one neighbour.  Again it was staffed night and day, but by now, my daughter really did have the hang of how to play staff off against one another, frighten them, and bully them.  There was a serious complaint laid, police involvement, and a court decision that she was not able to live in the community under the current circumstances.  She was moved to a very secure place where everything was locked down, and where there were a mix of clients who had also been through the courts.  None of these clients had PWS; she was the only one.  For her, to live with other people under such strict rules, was a big wake-up call.  This lasted a year, with a transition farm-house for the last few months.  I was proud of the way she had 'learned her lesson', but not proud of the fact she had put on a lot of weight.  This last home was full of big, strong, men who ate big meals.  She was happy about that! 

During the year she was there, I spent a great deal of time searching for providers for when she got out, who would be prepared to abide by the latest IPWSO Best Practice Guidelines for Residential Care.  I spent a long time combing the Best Practice Guidelines for the best ways they would fit our New Zealand culture.  I changed a little, but not a lot.  After some months of talking to providers, we chose one who seemed very enthusiastic and ready to take on the challenge.  We put an extreme amount of training and support into the staff (much from the IPWSO Best Practice Guidelines) and brought in two clients with PWS (one, being my daughter, and the third is without PW) and staggered their arrival over a period of 2 weeks, and sat back to watch.  The honeymoon period lasted another 2 weeks and these girls had the staff exactly where they wanted them.  Basically, as slaves!  They would sit around all morning in their jamas, ordering cups of coffee, expecting breakfast when they deigned to get up, morning tea, lunch, and so on.  No, they didn't want to go out and exercise; no, they weren't interested in showering, or getting dressed...

Back to the Guidelines and the application of more rules.  Exactly as the Guidelines suggests.  Staff learned to call the tune, put rules in and around everything - if the girls weren't up by a certain time, breakfast would be cleared away; if they didn't walk, swim, exercise, there would be no priviledges.  There followed a couple of weeks 'shake-down' period where staff stood their ground, and finally, the girls got used to the idea that routine would be followed and priviledges earned.  Things are now going much better as staff have quickly learned to cope with the cleverness of two young women who know their way around.  Some staff were worn out quickly, some handled it well.  There have been tough times, as well as the funny side of life. Best of all, they are happy and losing weight!

It was a risk, introducing a new service provider to the world of PWS, but one that has been well worth the taking.  Having staff interested in the syndrome, willing to be helpful, and willing to be forgiving over minor transgressions (particularly the swearing) has been paramount to this home's success.  Things won't always be easy, and the good old learning curve will always be steep, but by following the Best Practice Guidelines right from the start everyone has had a chance work together.



Would you like to holiday in the Dolomites?

Other than the very rewarding work of being on the IPWSO board, is the great pleasure of finding out where in the world we are next meeting!  Our board meets once at our three-yearly IPWSO World Conferences, and, generally, once inbetween.  Although it might sound extravagent, we generally manage to get support with our venue and accommodation, relying on wonderful international friendships.  This year we met in Giorgio's (our CE) home country, Italy, a couple of hours north of Venice at Laggio di Vigo di Cardore, way up in the Dolomites.  While we were here, we learned that this wonderful place is offering family holidays for special groups... and we're included!

Casa di Laggio high above the village



This wonderful old 'holiday house' used to be a sanitorium for those with TB, but is now used as a holiday place for those wanting to experience the great walks, ski-fields, and explore the beautiful mountains. 

This year will see an enormous upgrade of the cassa with complete refurbishing which will encourage groups to visit and stay.  In this regard, IPWSO will be organising family holidays for anyone with PWS and their families.  Can you imagine a more perfect holiday?  And we will be able to offer a very reasonable family rate!  The menu will be designed for those with PWS in mind, there will be activities for children, and time to relax for parents.  Interested?  Watch this space.... More on this later! 

 

A Note from Japan



Description=Yachounomori Garden, Tatebayashi-shi(city) Gunma-ken(Prefecture), Japan [http://www.sibazakura.com/ 群馬県館林市 野鳥の森ガーデン] |Source=[http://www.flickr.com/photos/13910409@N05/3456398565/ Sakura and Moss P)



Wikipedia states: Every year the Japanese Meteorological Agency and the public track the sakura zensen (cherry-blossom front) as it moves northward up the archipelago with the approach of warmer weather via nightly forecasts following the weather segment of news programs. The blossoming begins in Okinawa in January and typically reaches Kyoto and Tokyo at the end of March or the beginning of April. The beautiful blossoms are enduring metaphor for the ephemeral nature of life. Cherry blossom is an omen of good fortune and is also an emblem of love, affection and represents spring.

From Eiko Shoji comes the following message to all our IPWSO family:

"Thank you very much for forwarding messages from the IPWSO members to me. I learned that our friends all over the world were praying for us. Certainly their prayers gave us strength, and were answered.

I'm really grateful to you all being so thoughtful and helpful for us this time. I think Japan will still have to go through a difficult time for some time, but it is a great encouragement to know that our friends are always with us."

Eiko also told us that all their "PWS families" are now accounted for and are safe!  We are so happy to know this and we hope the beauty of the blossom can bring hope for new life for Japan.

To our Japanese Families...

Our thoughts and prayers are with all of our Japanese families.  It is at times like this that families are the most important and precious things we have and we hope yours are all safe.  IPWSO has many friends in Japan and we have met many of you at conferences around the world.  It is devastating to learn of the destruction from the earthquake on Friday 11th March, and the following tsunamis, that has been brought to your beautiful country. 

Many of us live in countries that are earthquake-prone and understand the horrifying and frightening nature of quakes, but those of us who don't, can only imagine what it must have been like for you, and is continuing to be like.  We know the shaky history of Japan and the many earthquakes and tsunamis that have caused thousands of deaths over the years.   We know too, that you are a nation of strong people who have rebuilt over and over again, and that you will do so again.

We stand alongside you...

The geese are flying

The geese are flying in formation across the sky, a sure harbinger of autumnal - or fall - weather, which can only mean that my Northern Hemisphere friends are looking forward to spring and the summer ahead.  I'm not a great winter fan, it feels dreary to me, whereas spring brings renewed enthusiasm and energy.  It's been a good summer here, weather-wise, but not so good for one of the prettiest cities in our country, Christchurch, which was shaken by two very large earthquakes resulting in a loss of over 200 lives and many of her beautiful old iconic buildings brought crumbling to the ground.

It has been amazing to watch the support pour in from all corners of the globe: first from our neighbours, Australia, who downed tools and caught the next plane out to help, then from Japan, Taiwan, USA, Singapore and the UK.  People started fundraising, sending food, tents, clothes, anything that they thought the people of Christchurch would need.  Red and black are the Canterbury/Christchurch colours - a young schoolgirl sent a tweet to all her friends asking them to wear the colours as support.  The tweet went 'feral' and a day was selected so everyone in the country could show their support. 

The people of Christchurch are still shaken by quakes every day.  There are large "no go" areas in the city, thousands of people have lost their homes, and thousands more have fled the area to find temporary and permanent accommodation elsewhere.  But, the spirit of the people does not lie down.  The strength and resolve of everyone to rebuild, to rise again, to get over this disaster, is formidable.  It reminds me of parents and families where there is a child or sibling with PWS.  There are so many knockbacks, some which you think you will never get over, problems which seem insoluable, and times when you just want to lock yourself away and hide.

But the spirit is always there, just beneath the surface ready to rise again.  We take the rough with the smooth, we show resolve and understanding, and, just like those who came to Christchurch's rescue, we have supporters who understand and help us too.  There are email groups, websites, chat-rooms where we can ask for help, where we can ask what may seem trivial questions, and also ask the big ones.   You only have to google "Prader-Willi Syndrome chat groups" to be provided with lists of opportunities to chat. 

The social media of Facebook, Twitter, blogs, and email and website groups is something that has grown exponentially over the space of a couple of years.  It helps make our world smaller, more contained, more sociable, and definitely more connected.  There are times when we think the blackest day has come, but we need only reach out into our intergalactic medium to find another's fingertips.  Geese fly wing-tip to wing-tip supporting those who are tired, taking over leadership in turn.  We can surely learn from them now.

Kia kaha.  Stand tall.

Farewell, Sultan, You Will Not be Forgotten

 Young Sultan from Kazakhstan was not able to access the medical treatment he needed for Prader-Willi Syndrome.  There was no parent support group, very little medical knowledge and Sultan's condition gradually became worse over the last year.  It is with great sadness that we report that Sultan died on February 2nd this year.   Sultan's story was published in our Wavelength edition: http://www.ipwso.org/assets/pdfs/Wavelength-Nov-09low-res.pdf   page 9.

His family had only recently been able to contact IPWSO and through our medical consultants been able to learn about the syndrome.  Sultan was much loved in his family and his Uncle Kairat wrote to us to let us know of his passing.  He paid a wonderful tribute to his nephew, and will not mind that we share it with our PWS families world-wide:

Dear Friends,

My name is Kairat. I am Sultan’s uncle and an older brother of Askar [Sultan’s other uncle]. On Askar’s request I am writing this message as a tribute to our dear Sultan.

Last Tuesday 2 February,  my nephew Sultan passed away at the age of 18. He had a rare Prader Willi Syndrome. His mental/emotional development had stopped somewhere at the level of 5-6 year old child. We knew he would not live a long life but losing him at this time is heart breaking. Often Sultan was difficult and very stubborn especially with regards to food, sitting at the same dinner table with guests, and a few other things. His grandmother and primary carer had many difficulties with him. However he was such a special child in a body of a giant. He had body of a bear but a heart of a deer. Sultan sincerely loved little children and animals. When sitting at a play ground he would start talking to children of 5-6 years of age and would be so happy if they would talk back to him. Other parents would be wary of “this huge body mass” talking to their children and would eventually take their children away. Sultan was very sweet and gentle but was lonely at times as he was not understood by many and at times by his own family. Sultan had lived with us for 18 years and we all are grateful he has been a part of our lives. Without him our life would not be as meaningful and rich.

We tried to care for Sultan with genuine support of you all as a wonderful international family helping families everywhere in the world to deal with the Syndrome. There is no doubt we could have done better and Sultan would have lived longer. But we also know that Sultan had a gracious heart and he forgave us all for any inadequate care he received from us. Sultan was a true believer in the forgiving and loving God of the Bible. He genuinely believed in the saving grace of the Lord Jesus Christ. During his last days he was probably close to 200kg. He would sometime say that when Christ returns he would be given a new slim body and would be able to run like other boys! His words were so special! He is surely with God now as he had been the most sincere believer of us all.

My mother has told me of his last moments before he died. The way he was getting ready to meet his end was amazing. This is having very serious impact on us. Sultan was to a serious degree both physically and mentally retarded but somehow he knew he was dying. He was so sweet asking God not to take him yet as he had not seen his newborn cousin sister yet (my newborn daughter). As my mother was with him this night he asked her to call my sister (Sultan’s mother) to say goodbye to her. When she came he was too weak to say anything but just gently gazed at her for 10 minutes. A little earlier he was asking my mother to forgive him for being difficult to deal with. His last words were the words of Lord’s prayer (New Testament, Gospel of Matthew 6:9-13) which he knew by heart. He tried to say it two times but was too weak and could not finish. He then gathered all his strength and said this prayer in full once and then another two times. He then tried to sit but instead turned on his stomach and went quiet. He was breathing for a few more minutes before going completely quiet and loosing heart beat.

What was so amazing is how serious and clear thinking Sultan was in the last hours of his life. His last words were said out loud and my mother could hear them but they were addressed only to God above. Witnessing this moment was so remarkable that it could not be described with words. It was so real and genuine. That was his big moment and Sultan was so brave to face it the way he did. As his family often we did not understand him enough. We often did not take seriously his “childlike” thoughts about his life with God. But how serious was loving God listening to Sultan in his last moments. Sultan was “unfortunate and retarded” as far as this world is concerned but he was a very special and precious as far as God in Heaven is concerned. Sultan is not an angel, he is someone more special. Angels are not called children of God, but Sultan surely is a child of God. The reality of God in his death was overwhelming. I miss Sultan and want to see him. So I have to wait a little for my time to go. Until then I hope this would produce lasting fruit in our life and we would be “serious as to death” about the reality of God in this life and in eternity. In conclusion I would like to repeat the last words of our Sultan as they are very special to us.

Our Father who art in heaven,

Hallowed be Thy name.

Thy kingdom come.

Thy will be done,

On earth as it is in heaven.

Give us this day our daily bread.

And forgive us our debts, as we also have forgiven our debtors.

And do not lead us into temptation, but deliver us from evil. For Thine is the kingdom, and the power, and the glory, forever. Amen.

We will always treasure Sultan in our lives. His last moments are very special to us and we only share these with close friends and family. We thought of writing this to you because you have become such family to us. Again many thanks to you all. 

Kairat (Sultan’s uncle and an older brother of Askar)

BIRD

BIRD stands for the Baschirotto Institute of Rare Diseases http://www.birdfoundation.org/  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 http://www.birdfoundation.org/Eventi/2009/diagnoses%20free/International%20Support%20-%20Poster.pdf

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: g.fornas@alice.it

Read more about BIRD on our website: http://www.ipwso.org/free-diagnosis-bird/

And in our March 2009 Wavelength. http://www.ipwso.org/wavelength-newsletters/ 

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.

Psychology

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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Motives

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.

Intervention

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).

Conclusion

• 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.

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

http://www.autism.org/sibpaper.html

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

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?