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!

In August, what happened was....

All around the world there are families needing our support.  Emails come in continuously - not always with cries for help, but quite often, so I'm going to outline some of the issues we helped with internationally in August.   For instance...

Qatar: A mother with an 11 year old son from Doha contacted us asking for support in maintaining her son’s dietary needs and physical activities.  While her son had been diagnosed at birth, he was unable to have GHT due to a sleep apnoea problem. This mother was asking for information about any centres run specifically for PWS where her son could get some help.  Our office in Italy sent all the relevant packets of information, both in Arabic and in English, including DVDs.  Of course, even though we are a big family of many countries (98 to date), there is not always immediate help at hand, so it was with some hope that we contacted Germany and asked our professionals there at the Witteskindhof centre  whether they might be able to help.

You may remember reading our blog  which told of a young woman with PWS from Macedonia who came to stay for a few weeks at Witteskindhof centre with her family.  While she was able to integrate socially and make new friends, at the same time both she and her family learned more about PWS and what kind of support is needed around this syndrome.

Not long after our Qatar request, we were rewarded with an answer outlining the conditions for acceptance.  We have passed this onto our contact in Doha and are hopeful that an excellent outcome will be reached.

Philippines: Not long after this, our CE, Giorgio Fornasier, had a visit from our parent delegate in the Philippines who has been a very active member in our large group.  Currently she is working for a Dutch company and travelling to the Netherlands every few months.  She was immediately put in contact with Dr Leopold Curfs there, and so another strong strand of information, support and help has been forged.

China: An enquiry from China – and, wonderfully, we have Chinese translated information that was able to be posted out immediately, and our parent contact in China alerted to this new family.

Mexico:  In Mexico, a very successful weekend workshop on PWS was held with topics covering paediatrics, growth hormone, behaviour and so on.  Our Scientific Consultant, Dr Moris Angulo from the USA, was one of their major speakers.  Mexico is making very good progress, especially with such expert help!

Peru:  It was sad to receive an email from Peru from a mother who had lost her 3 year old daughter who had PWS, and who was scared to become pregnant again, not knowing the risks involved of carrying a second child with PWS.  We have good Spanish-speaking medical contacts who were able to talk to this mother in her own language.

Chile: We welcomed a new Parent Delegate from Chile, Amarlia Barlart, who speaks excellent English as well, and who is eager to help families in her country.

New Zealand: We welcomed a new Caregiver Delegate from New Zealand, Julie-Anne Quinney and look forward to meeting her at the 8^th International PWS Conference next year.

Our Professional Providers Board:  Talking about our professional caregivers, they have e-office hours where you can contact them and talk through any issues or problems, or just talk about PWS with another country – it’s a great resource and we hope to build up quite a talk-fest.  You can find information on our website under the “Carers” tab.  During their last month's office hours, they spoke with caregivers from USA and Spain.  You don't even have to have a problem to talk!  They just love to know you're 'out there'!

Fundraising:  Finally – we are still struggling to revive our grant from Pfizer which allows us to do our daily work.  We know it is difficult to find funding for everyone all around the world, but we hope we will never be in a position to close our doors!  You can help, of course – our “Light a Candle” project is still alive and well, and we received a donation just the other day; our “e-gallery” project where you can buy wonderful and unusual art-work for a small donation, is still waiting for you!

Membership dues: And, if we receive all our membership dues, this will also help us in our work.  Outstanding dues still remain from:

Greece

Poland

Venezuela

Don’t forget, you need to be a fully subscribed member country in order to have a vote at the General Assembly next year where we look forward to another wonderful conference, full of more wonderful people!  (Well, we are, aren't we?)

Men & Grief

While we've been on the topic of grief recently, I was reminded of an article about men and grief that  I once asked for to go into our newsletter many years ago now.  I wanted to know why some fathers grieved differently from mothers and why men grieved differently from women.  Bear in mind this was a while ago, and I'm quite sure that, generationally, things have shifted significantly.  But if they haven't, for you, then maybe this might help.  You will also notice that in this story diagnosis had been late, as it still can be in many countries and there was no help with feeding.  This family really struggled.

"I had been looking forward to the birth of our first child. For months I had been fascinated by her movements insider her mother; at the beginning little flutterings 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 all 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 moths. 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 PWS. It took me a long time to accept this. I read all I could about this 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."