A long walk; a wedding; & some beautiful art work

Here are some snippets of news and views from around our PWS world...

From the USA:

Larry G, age 44, at his annual 5 mile walk to benefit the Animal Humane Society.  He has made this walk with Buddy, our family dog, for 11 years.  In the beginning, he raised under $2,000 and last year raised an amazing $7,000 for the animals!  He goes door to door soliciting people to sponsor his walk, as well as calling friends and relatives.  Larry also volunteers on a weekly basis at the animal shelter where he takes dogs for a walk.  He was the first volunteer, who has a disability, whom they accepted.  Joell, his personal trainer, has been his partner at the Animal Humane Society since the beginning.  As Larry says, "I love animals and want to help them".



From Italy:

A very special announcement:

The marriage between Michela (who has PWS) and her fiance, Roberto, will take place on October 5th this year.  Our CE, Giorgio Fornasier, will sing Ave Maria at their wedding.

We are looking forward to hearing so much more, and possibly having photographs as well!  In the meantime, we offer our warmest congratulations to Michela and Roverto and best wishes for a long and happy marriage.

From the UK

Calling everyone with PWS!

There will be an international Conference about PWS in England in July this year.  We would like people who come to the conference to know what it is like to have PWS, so we are planning to have a Powerpoint presentation to show them with photos, drawings, and words from people with PWS from all around the world.  Would you like to send us something to add to the presentation?  We need one page of photos, drawings and/or words from each person.  (PWS delegates and organisations - please spread the word!!)

To find out more click here

We have already been sent some beautiful artwork - check these out!

And, finally, from the Secretary of IPWSO:

A reminder that Delegates of IPWSO are asked to submit the names of candidates for election to the Board and should do so in association with their PWS Organisations and should advertise this information as widely as possible via their own websites, Facebook pages, email groups and newsletters.  Nominations are due at the IPWSO Secretary's office by 1st May 2013 and will be posted on our IPWSO website.  For more information, click here.

Skin-picking in our kids & adults with PWS

Recently, our FamCare Advisory Board published an article on skin-picking in PWS.  There are many, many resources on the internet about this characteristic and most are written by medical professionals.  At FamCare, we mix both medical advice with parent-to-parent advice.  You can see the article here

Keeping hands busy is the best remedy!

Some people pick more than others.  There is some evidence that concludes people with the Deletion diagnosis pick more than those with the Maternal Disomy, although this isn't set in concrete and there are always exceptions to the rule.  We know that a high pain thresh-hold is something that our kids and adults also have, and that self-inflicted pain will often produce endorphin hormones which can make a person feel good.  There's a lot of evidence to suggest that heightened anxiety and nervousness will lead to picking - and this is actually quite common in the general population.

There have been many research studies done on skin-picking and many of us parents have wished for nothing more than a solution to this somewhat gross habit.  I have always thought that one of the best ways of understanding a person with PWS is to try to get inside their head and think the way that they think.  Therefore, I often ask my daughter the reasons behind a particular behaviour (especially if it's been challenging).  Sometimes there is a real insight - and, of course, sometimes there is not!

With this in mind, I came across an article entitled Individuals with PWS and their Perceptions of Skin-Picking Behaviour (see it here) and thought it would make interesting reading for all of us in our attempt to understand what drives our kids to skin-pick.  Here are some of the reasons, as told by the person:

“I scratch when it itches. Yes, then I scratch open my skin, I know that this is not a good thing to do, but I cannot help picking my skin. It starts to itch and then I start to scratch and pick my skin.”

“This behaviour belongs to my PraderWilli syndrome, it will not disappear. It has something to do with the syndrome, they cannot point that out to me.”

The next comment came from a young man who grieved the loss of his father:

“Yes, normally, yes, I have no father anymore… I often see my father standing in my bedroom, then I feel very nervous and stressed. Then I start picking at my skin…It’s just nerves.”

After a hospital visit...

“When the doctor used a thick needle for taking blood samples. At first I did not scratch open the wound, but later it started to itch and then I scratched it open and a crust appeared. But as soon as the crust starts itching I remove it and also scratch the wound until it begins to bleed.”

Boredom...

“When I have nothing to do, I start scratching and picking at my skin. Then I am feeling bored to death. I sit and watch and 

am not busy with my hands. Then I start to 

scratch at my skin.”

Many people are convinced that there is no remedy or treatment for their skin-picking.  Some blame it on the syndrome; but there are others who can recite several factors that could reduce or prevent picking, such as cutting nails very short, keeping busy, or being rewarded for not picking.  One said...

“I never scratch and pick at my skin when I am smoking in front of the television. Then I am doing something, I hold a cigarette and cannot scratch or pick at my skin.”

What do they actually think about their behaviour?  Some answers...

“I feel bad about doing it. Sometimes I think that the behaviour is really deep inside me. I feel very guilty each time I have skinpicked.”

 “When I am upstairs and I have scratched or picked at my skin, I ask my caregiver how I can make amends to him for this, how I can be of assistance to him, or whether I can buy something for him. I cannot help my skinpicking, but I want to amend to other people for my skin-picking.”

It is interesting to see that many have a real understanding of the syndrome:

“I think that other people do not understand Prader-Willi syndrome! They do not know what it is! They do not understand that some behaviours [skin-picking] belong to the syndrome!”

Some like to talk about their skin-picking, others don't.  Some feel relief after they've picked, saying that the itch had now gone.  My own daughter will NOT leave a pimple alone, nor will she stop trying to get a stray hair off her chin.  It doesn't matter what I might say or suggest as a remedy, she seems to have to do it herself in her own way, regardless of the outcome or how it looks.

Have a look at what other parents say in our FamCare article.  You may have remedies that are not on the list - if so, please share with us!

The busier, the better!

Nellie Bindara McNamara

Mc in happier days

Some people give up their lives to PWS, it takes over, overwhelms, overpowers and overcomes their lives.  I know a little old lady called Nellie Bindara McNamara ("call me 'Mc', I only answer to 'Mc'") who devoted her life to her son with PWS, but who has now succumbed to old age and dementia.  I spoke to her today, but she didn't know me. Until now, I'd had weekly, if not daily, correspondence from her.  In the 'old days' before computers, she would write me pages and pages about PWS and about her son and what she wanted for him and how difficult it was to get the help she needed.  Somehow she thought I could help, but all I could do was to listen and express sympathy, empathy and encouragement.

She was always a feisty lady.  She never, ever, ever took 'no' for an answer.  She fought for what she perceived as her son's rights, taking her issues to the Government authorities, newspapers and to every PW conference she could get to.  To be honest, she would drive many of us up the wall as she demanded to be heard.  I don't ever remember her sitting silently for long!  But it's the squeaky wheel that eventually gets the oil and after many years of fighting the system, she eventually found a placement for her son that proved that such places could (and should) be found.

I remember one of the most pertinent talks she ever gave.  It was at one of the early Australasian PW conferences in Adelaide which included a particular demonstration that has never left my mind.  She was describing how she took over the management of her son's diet.  Having described how she "fed him little and often" as many as 7 mini-meals a day, she then held up a pair of his underpants and disappeared from view.  They were enormous.  Then, folding them up like a sail, she held up a pair of normal sized Jockeys (underpants) and said, "this is what he wears today."  It was a stroke of genius and the audience was spellbound.  (Only in Australia, I thought quietly to myself!!)

When she was younger,  Mc travelled every inch of the Outback in Australia that she could, befriending Aboriginal tribes as she went.  She was soon well-known as she beetled along in her little blue Humber car.  She loved these people, she loved her land and was fiercely and proudly, Australian, wearing her green and gold tracksuit as often as she could.

After I hadn't heard from her for a few weeks, I started to worry.  My emails to her bounced back with "no such address known" and her phone stayed unanswered.  I worried about her as she has no family - her husband was killed in a shocking accident months before their only child, a son with PWS, was born.  (She raised him virtually single handed in the days when information was not easy to come by.)  Fortunately, though, she has a wonderfully dedicated family who have taken her to their hearts and it was through them that I was able to track Mc down today. She is in hospital care.  She once said to me, "if I kick me clogs off (die) before you, would you remember me at your meetings?"  Well, she's still wearing her clogs, and may do so for many years yet to come as she quietly succumbs to dementia, and I hope for her sake that she remembers only the good things, and that she knows her son is happy in the residential care where he now lives, and that her little dog, her faithful "Tup" is also living there too.

The world has plenty of room for fighters like Nellie Bindara McNamara, known affectionately as "Mc". 

Son, Jan-Erick, and Tup

Jig-saw puzzles

Jig-saw puzzles: fascinating, absorbing, time-wasting, good for fine motor-skills, they follow a pattern or a picture which can often be seen on the box, but many people, including our own special lot, can solve a puzzle without looking at the picture.  But where to begin?  Pieces may be scattered all over the table, upside down, some in little piles according to their straight edges, colours, the hunt for the corners.  It looks so confusing!  I've watched some of our kids (of all ages) with PWS as they concentrate on the detail, looking intently at the cut of the piece, its colour and shape, and automatically find where it fits.  It's amazing how they do it, and if you watch carefully there is a kind of rhythm - they pick up a piece, examine it, absorb the information it portrays and either put it exactly where it belongs, or put it carefully down to be used at another time.

Recently, I watched a trail of emails that had come into IPWSO starting with Dr Kate Woodcock from Birmingham who had gone to Bejing as a Marie Curie Postdoctoral Research Fellow, wanting to research PWS in China.  We know the difficulty of establishing a PWS Association there (gatherings and groups of people are not encouraged), and we know that the practice of one-child families where children with disabilities are not welcomed.  So the jigsaw pieces are scattered, most are still upside-down, and there don't seem to be all the corner pieces.  Where to start?

One corner piece comes into view - a clinical geneticist, enthusiastic to try to do more to help the families of newborns.  Another corner piece and pieces that fit:  he is also a paediatrician so he gets to meet some of the children with PWS.

A stumbling block:  he doesn't communicate in English, so some more searching among the pieces of the jigsaw and up comes Taiwan, but there are no joining pieces until a piece with IPWSO turns up.  Kate makes the connection and Giorgio provides the next piece - the Taiwan PWS Association.  More pieces reveal names of professional delegates in Taiwan who provide the language connection, and so the jig-saw starts to be solved.  Piece by piece, name by name, country by country.

It's a massive jig-saw, and, thankfully, IPWSO has many of the pieces you might need!

The end of the year is nigh, and many of us will be celebrating our holidays and holy days.  May your time with families and those whom you love, be happy and joyous and may the pieces of your jigsaw always fit!

Diagnosis: Prader-Willi Syndrome

"Diagnosis: Prader-Willi Syndrome"  How many of us have heard those four words and felt the world come crashing down?  It doesn't matter how well-prepared we might be, it still comes as a shock. It's something we don't want to hear; we want our baby to be perfect, of that there is no doubt, and dealing with the hard reality that there is something fundamentally wrong, is quite possibly one of the most difficult things to accept.  I remember it well.

But, imagine what it is like for parents living in a country that is unable to find a diagnosis for their child?  They know there is something wrong, they've been advised by doctors that there is nothing they can do, and they leave the hospital feeling hopelessly lost, vulnerable, scared and alone.  They need our support and the first thing that we can do for them is make sure they have the right diagnosis - as hard as this is going to be, once they are equipped with the knowledge of how to care and manage their child's life, having a diagnosis is the best foundation to start preparing.

IPWSO has always been able to fund the cost of this diagnosis.

 This is how it's done.   IPWSO's head office is in amongst the offices of BIRD which is the Baschirotto Institute for Rare Diseases, in Vicenza, Italy (you can read more about this here.)  The laboratory there does the diagnostic tests for just the cost of the supplies - E150 (about USD150).  Parents of children in countries where diagnosis is difficult to obtain, just need to put a drop of their child's blood onto a piece of blotting paper and send it by mail to BIRD  (instructions are on our website).  It's as simple as that.

After the test is done, we contact the parents and the medics with advice, information and support.  We know how difficult it is for parents hearing the news for the first time, but without a diagnosis, life could be even more difficult and precarious.

Since 2003, IPWSO has been able to fund over 420 tests.  It is one of the principle factors to our work in the world and one that we wish to continue.  We have been through some difficult economic times and we know we are not the only agency feeling the pressure, but we believe what we do in the world makes a difference, so we need to continue to raise our own funds.

Maybe you can help?  Donating €150 (or $190 USD) covers a diagnostic test and possibly saves a life.  Donating $1,000 USD will cover diagnostic costs for six children and help provide training for testing in that country.  Donations can be made by an individual or a group, and can be in honour or memory of a loved one who will be recognized for a year on our web page.

We would be so grateful for your contribution - and so will the family you help.  For details, check here  We hope, that with your help, we can continue to help others understand the uniqueness of PWS that we all face.

Thank you for understanding...and if you can Donate a Diagnosis, there will be one family in this world, better off for your generosity!

An Ambassador for IPWSO!

Daniele ~ The Village Boy Becomes a Man

New parents of a baby with Prader-Willi syndrome (PWS) typically are devastated because they get on the internet and read about children with PWS - low IQ, lack of social skills and behavior problems.  They envision their beautiful baby someday becoming this person who grabs food from others, digs in garbage cans, and cannot be taken out in public.   The people who wrote those articles and did the studies obviously never met 36 year old Daniele, who lives in Italy.  He is the son of our IPWSO Executive Director, Giorgio Fornasier.   



Daniele - paying for dinner!

  To meet Daniele is to be charmed by him.  My latest example was a recent trip to Italy after driving with the Fornasier family to Germany to provide PWS education at the ESPE conference.  Daniele insisted (as he does with all of their international guests) to pay for one nice dinner for all of us. His dad drove him to the bank after his work day ended, but the bank had just closed.  Daniele knocked on the door and told the bank teller that he needed to get some of his money to pay for a special dinner that night.  His dad said he would lend Daniele the money, but Daniele said no, it must be his money.  Daniele asked to speak to the bank President.  The bank President came to the door and after Daniele explained the importance of his request, the President agreed to let him come in and make the withdrawal! 

Over the years, I have observed that in any restaurant in his area in Italy, Daniele is allowed to go back into the kitchen and greet the staff.  He also gets big hugs from restaurant owners, and everyone on the streets of his village knows and greets Daniele.  He always has a smile on his face and a swagger of confidence.  Daniele is the altar boy at mass every week, and also prepares the altar for service.  Daniele also has “adopted” two children in Brazil and pays for their care out of the money he earns.

As far as the male Italian charm, I will never forget the time we were driving and Daniele was sitting between Pam and me, with arms around us and giving us kisses on our cheeks.  His dad told him to cut it out.  After Daniele responded in Italian, I asked Giorgio what he said.  He told his dad, “You are just jealous because you are married and I am not!” 

Compared to anyone with or without PWS, Daniele is exceptional – but so are many of our children and adults who have PWS.  Their charm, their generosity, their capabilities are not what studies are made of – but are the qualities I wish we could share with all of the new parents before they sink into despair.  I wish they could meet Daniele in the hallways of the hospital right after they get the diagnosis.  With a big smile, he would shake their hand, give them a big hug, and tell them they have a beautiful child of God. 

Contributed by Janalee Heinemann, IPWSO Vice-President

PWSA USA Medical Adviser

Your Christmas Shopping is now Complete

I wonder how many of you have a daughter or even maybe a son with PWS who enjoys Christmas shopping so much that unless it is done by mid-August, the world as we know it, will cease to exist?

I don't know what it is - maybe it's genetic? - but it's been like this forever.  Well, ever since the concept of Santa Claus was rudely demolished by the older sisters.  This terrible news seemed to force the issue for youngest daughter (the one with PW) who took it upon her small shoulders to become utterly and completely responsible for the purchase, wrapping, and distribution of Christmas presents.  So anxious did she become that pretty soon the idea of shopping one week before Christmas became unmanageable, and it quickly became one month before, then two, then three, and now if shopping is not complete by mid-August, as I said before, the world as we know it will collapse and crumble.

Nothing has changed, as far as she is concerned, and her own shopping is, as you would expect, now complete.

So, having wrapped that lot up, she advanced on me with her brochure of Avon products, a pen, and a notebook so that I could make some detailed choices.  Nothing, it would seem, would prevent her from accomplishing the result she wanted - to sell me as many Avon products as possible, so that she could benefit from the kickback that being an Avon representative would give her.  Did I mention that she was a self-styled Avon rep?  Earlier this year, she answered an advertisement in the little local paper and signed herself up; along with her ever-patient caregiver who has been delegated a 'silent supervisor' who handles the money and oversees the distribution and collection of brochures.

Next, she advanced on her rather frail grandmother complete with Avon brochure, pen and list of people that Grandma would probably want to give presents to.  Thankfully, daughter was extremely patient and gentle and the feedback I had was that she was very thoughtful and had some excellent ideas.  For which I am eternally grateful!

When she was very little (daughter, that is, not Grandma) she would also take it upon herself on Christmas Day to distribute all the gifts to everyone.  Not just hers, everyone's.  As you might imagine, this also included the exact time when this should be done.  Which meant that to avoid a fully impacted disaster, we had to learn patience and give in to this ritual.  It was not appreciated by Older Sisters.  However, as she grew older and slightly more wiser, she has allowed this ritual to be changed to her distribution of gifts into designated piles which people are allowed to open at their leisure.  Phew!  Disaster avoided.

However, the early Christmas shopping I doubt will ever be changed and as she comes from a family whose best skill is shopping-at-the-last-minute, she will always be the odd one out... unless she manages to convert everyone to the joys of brochure shopping with Avon!