A Special Story

Michela, a young woman with Prader-Willi syndrome. is getting married in October this year to Roberto. It all began by chance at the New Year’s Eve party on 31 December, 2007 when, in celebrating the coming of the new year, they met. Michela and Roberto did not know each other until then, but they both belonged to the same sports club where Michela practiced swimming, and Robert tennis-table, but for various reasons neither had seen the other.

"A party where,” says Roberto, “we were one of 20 athletes from the club among friends and others; one of those lucky chances.  Most of these guys at the party were from the PHB POL Bergamo non-profit organization where both Michela and I do competitive sports.”

While there he was enjoying singing and dancing, “then, I saw Michela and, believe it or not, we were sitting at the same tavolata but we had not even introduced.  There she was sitting all alone while the others were having fun, so I said at once, ‘you can’t not have fun!’”

“Then I went over to her and asked her to dance, and after a few attempts I managed to convince her and that was the start to our wonderful story.  We went with some friends to have breakfast in the morning and later, I jokingly told her not to go home and say that had found a boyfriend, but really it was so!”

“Then we began to go out; I knew her parents, both lovely people who welcomed me immediately.  We were all going carefully and slowly; Michela met my parents (she has a soft spot for my dad), so our story went on.

“Hand in hand together we faced all the difficulties we had to encounter (difficulty dealing mainly with the food, but also the fact that, however, I could not leave her alone) and thanks to her and my parents, we have every time  tackled every difficulty , resolving them without drama but with the understanding that we would always have to resolve them.

After three and a half years of engagement where Roberto and Michela  continued to get to know each other, share the same sport, do the same activities with the same enjoyment, they began their life together.

Roberto, who works as a surveyor, has renovated the apartment according to their needs where they have lived for one-and-a-half years already, in their made-to-measure apartment

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Michela is a multi-champion of Italian swimming and table-tennis and competes to have fun while Roberto says, "I really like to share all the emotions she feels and be close to her in every moment of her life and be able to make her happy.  For me it is my real victory in my life, and I know that the day has come that is the beginning of a life unique and special just like Michela is.”

Happy Mother's Day!

This Sunday (at least Downunder) it's Mother's Day.  A commercial gimmick, yes, and one that normally I don't worry too much about, as a mother.  But I always recognised it for my mother and loved the fact that she had a special day.  And, of course, there's Father's Day, and, bless him, he never really minded another pair of socks, or a plastic-handled screwdriver.

In a way, it's really more important for the children than it is for the parents - and it gives them something to think about!

So every year I get a card and a box of chocolate-coated almonds from my daughter - the one with PWS. In spite of, or probably because of, her disability around food, it's the one thing she loves to share and buy for others.  Fortuitously, all these gifts have arrived uneaten.  So far.  But it's the card I love best.  It usually says the same thing, but it still makes me a little teary when reading it:

"MUM!!
Happy Mother's Day.   It may not seem like this to you in the 28 years you've had to put up with me.  I know it hasn't been easy and we've had a few really troubled times.  But every second of the Day you've been there for us kids, especially me.  There has never been a second that you've wanted to Give up on me or the other two.  Mum Ure the BEST and I couldn't have asked for a better Mum.  Words cannot express how much you mean to me, your love and support unfaulting.  I couldn't have had a Better Mum than you.  Thanks Mum.
Love for ever"

I'm pretty sure my daughter is not unique in her effusion for her mother.  There does seem to be a really strong bond between the child with PWS and his or her parent(s).  Usually it's the mother who holds that bond, for some reason.  Often the two parents are played off against each other and, with the limited understanding of the child, it becomes "love you/hate you" when simmering point is reached.  But, no matter what the situation (and I see, this year, my daughter has lifted the level to "really troubled times"... with good reason...), there is this undying love expressed in a way that only they can.

The "troubled times", although extremely difficult, have to be assigned to the syndrome and, if possible, not to the child.  Hard as it is to let the issue go, if you can eventually see past the trouble and recognise the vulnerable child underneath (no matter what their age), then this is your reward.

So, to all the mothers around the world, no matter what the day, "happy mother's day" to you!

Death through over-eating

This topic is a very serious one on many levels.  First, we all know that people with PWS have what is medically termed, hyperphagia.  (Greek words meaning "very much" and "eat".)  What it means in the PWS world is an inability to stop eating.  There are other disorders than can also cause this excessive appetite and lack of control:  diabetes, Kleine-Levin Syndrome (a malfunction in the hypothalamus) and Bardet Biedl Syndrome.  And there are many other issues that can cause hyperphagia as well - namely

• Anxiety
• Certain drugs
• Hyperthyroidism
• Hypoglycemia
• Premenstrual syndrome
• Bulimia

There are some links here, and I'm sure you can spot them: anxiety and diabetes.  Both these are often cited as causes for over-eating in the normal population (yes, I know, I always debate whether to use the word "normal" as well... but for the sake of this post, I'm choosing "normal", with reservations!) as well as in the PWS population.  

When we think about death through over-eating, we tend to think of people who have grown so huge  that their obesity eventually killed them (usually through vital organ failure). Interestingly, in Wikipedia there is a short list of six famous people who apparently died from over-eating:  

1. Alexander the Great (loved his feasts, couldn't get enough)
2. Zachary Taylor (12th President of the USA, overloaded on cold milk and cherries during a 4th July celebration; died from gastroenteritis)
3. Mozart (apparently from eating too many undercooked pork chops)
4. Adolf Frederick (King of Sweden, ate numerous servings of lobster, caviar, sauerkraut, kippers and champagne, topped off with 14 servings of his favourite dessert.  He died later that night.)
5. Henry 1st  (not known to be an over-eater, but ate a "surfeit of lampreys" and died the same night)
6. William Makepeace Thackery (a notorious glutton who regularly overate.  Addicted to spicy peppers.  After enjoying one last enormous meal, was found dead in his bed next morning, felled at the early age of 52) 

I imagine many of you have seen those "fattest person in the world" documentaries where they are usually so large they have to have some sort of wagon system to get them from A to B.  Personally, I hate to see these as they seem to suggest it's ok to be that large, it's ok to laugh at large people, and it's apparently ok to make media footage at their expense.

But I want to get back to my original point which is that people with PWS have a genetic and hypothalamic imbalance that causes the brain to cease signalling the stomach that it's full.  Many people with PWS do die at extreme weights and it is this obesity that has been a major cause of death.  However, many people with PWS are not obese, and yet can still die very suddenly from over-eating.  Just like our list of six above - although, quite obviously, none of these people had a genetic deletion on the 15th chromosome, and all would have had the capacity and cognitive ability, should they have wished, to eat sensibly.

It can be very difficult to understand that a normal-weight person with PWS can die suddenly from overeating.  They look normal.  They are not overweight.  They have not been seen to be overeating.  Yet, suddenly and inexplicably, they suffer serious stomach pain, vomiting, and are rushed to hospital.  What has happened to cause this sudden death?  Most often it is a stomach rupture and the seriousness of this cannot be over-stressed.  

The main symptoms of stomach rupture, or necrosis, are these:

• Vomiting
• Loss of appetite
• Lethargy
• Complaints of pain
• Stomach bloating
• Possible fever
• Guaiac positive stools (blood in stools, not necessarily seen)

If you, as parents or caregivers, are aware of any of these symptoms, it is imperative you get medical help.  Just recently, I attended the funeral of a young man who complained of a 'tight tummy' and who had been vomiting.  He was rushed to hospital, but unhappily it was too late.

There are other causes of abdominal pain - of course there are - and the reasons for this could be far less drastic than gastric necrosis.  As our PWS population grows older, there are more health issues to consider. 

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!