Thursday, August 11, 2016

Don't let Eugenia down!

Not so very long ago, let's say 20 years ago, these were the most well-known photographs of someone with Prader-Willi syndrome.

Who was she?
Some time in 1680, this young girl, just 6 years old, was painted by the Spanish royal court painter because of her 'unusual deformity'.  Her name was Eugenia Martinez Valleja, but no one really knew her name she was just known as La Monstrua. Even today, if asked, few would remember her real name - Eugenia.  Poor kid, never to be understood.

When Dr Andrea Prader (who, along with Drs Willi and Labhart, first wrote about the syndrome and later gave it their name) first saw this painting he declared that in all likelihood Eugenia had Prader Willi syndrome.   Some stories tell of her very bad temper and how she would be given into in order to avoid her strenuous wrath.  But we don't know what became of her, or how long she lived we just recognise her as an early icon of Prader-Willi syndrome.

Eugenia's portrait was painted 336 years ago.  It was to take another 277 years before our Doctor friends Prader, Willi, and Labhart were to distinguish a cluster of features that led to the naming of the syndrome.  This occurred in 1957 and the life expectancy was still very low with most children dying before the age of 20.  Why was this?  Well, it certainly had something to do with the knowledge we have today simply not being available. Literacy itself was a challenge and life expectancy in 1600s was only 35 if you were lucky and healthy.  Infant mortality was extremely high.  So Eugenia was lucky to even live as long as 6 years.

Was Eugenia the only one?
Well, no.  Today we know that the incidence rate of PWS is 1:12,000.  So one might expect that in a country like Spain where Eugenia was born and where today's population is just short of 47 million, that there might theoretically be a PWS population of 39,000.  Let's take it further; on earth live approximately 7 billion people.  Using the same incidence rate, that gives us, theoretically, 5.8 million  people with PWS.  Where do they all live?  Answer - in every country and everywhere.

How can we reach out to nearly 6 million people?  We do it country by country, PW Association by PW Association, family by family, person by person, one day at a time.

Many die before we can reach them.   Young Sultan from Kazakhstan was not able to access the medical treatment he needed.  There was no parent support group, very little medical knowledge and Sultan's condition gradually became worse.  Sadly, he died on February 2, 2011. Sultan was much loved by his family.

He was 18 years old.

His family had only just been able to contact IPWSO shortly before he died and through our medical consultants had been able to learn about the syndrome. 

This is Shelly.  She died when she was 21 years old,  Life for Shelly and her family was incredibly hard.  PWS was not understood until it was already too late.  There have been many cases like this, far too many.

I am showing you these photos because this is what life is like, still, for many families around our world.  I am showing you because in the last 60 years since PWS has been described, we have come a long long way, but we still have a long way to go before we can claim parity amongst nations.

IPWSO has been around for 25 years.  What have we done?
  • Helped country after country claim the right to a better health care programme for PWS.
  • Supported research and helped fight for the right to have GHT available for children around the world 
  • Hosted international conferences (9 to date) where research has been encouraged and shared
  • Collected together 103 countries to form our very large 'family' of support
  • Translated information into over 15 different languages
  • Supplied up-to-date information on scientific research papers, distributed quarterly
  • Supported families, teachers, residential caregivers and provided information and training
By doing this, we can see the results we have achieved in the faces of those with PWS, their families, teachers and caregivers.  We know we are making a difference.

Where do we go to from here?   

We can see the benefit of all of our work around the world:   Happy, healthy young children, the greater majority of whom are able to access Growth Hormone treatment, attend school and be supported by their teachers, thanks to the information that their families provide, that their country PW Associations provide, that IPWSO provides.

We encourage research by continuing to support our own IPWSO conferences,

We support growing PW Associations by sending internationally renowned speakers to meetings, seminars and first-time conferences where there has previously been none.

We continue to translate information

We continue to support families.

How does IPWSO operate?

Very simply!  We have two part-time paid workers, a Programme Director and a Communications Coordinator.  We have a Board of Directors and a Clinical & Scientific Advisory Board, we have a residential care-providers' Board (PPCB) and a Family Support Board (Famcare) all of these people work pro bono for us.

We have delegates (a parent delegate, medical delegate and caregiver delegate) from each our member countries who make up the backbone of IPWSO.  We are in regular contact with our member countries and rely on them to help us spread information around the world.

How is IPWSO funded?
When IPWSO held its very first international conference, funding was granted from the World Health Organisation.  After that, and when it became obvious that there would be a demand for Growth Hormone treatment, Pfizer gave IPWSO an unrestricted grant for many years.  But nowadays funding is much harder to find.  We no longer receive grants from Pfizer and we rely simply on the subscriptions from our member countries and donations from many of our philanthropic friends to whom we are hugely indebted.

Frankly, finding funding is very difficult!
If you feel you could support us in any way at all, would you please either contact us directly, or donate via our iDonate page which will take donations both small and large!

Don't forget, every dollar donated before the end of the year will be matched by the KB Anderson Trust!

Is it too much to ask?

What's our greatest wish?
To find ways of helping everyone, every family, every country where there is a need to support people with PWS live a fulfilled and happy life.  Forever.  We owe it to Eugenia not to let her down.

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