This BIRD has wings!

40 years awareness for “Rare disease” – Anna and Giuseppe Baschirotto

My visit to B.I.R.D. in September 2017

by Verena Gutmann (IPWSO Board Member - Austria)

Verena

 

Some weeks ago I visited B.I.R.D. Institute (Baschirotto Institute of rare disease) in Longare di Costozza, a sleepy little village near Vicenza.  The agreement between B.I.R.D. and IPWSO needed to be confirmed again and signed.  

The B.I.R.D. Institute makes it possible to perform the IPWSO diagnostic molecular tests which allow confirming or excluding the Prader-Willi Syndrome in countries which cannot afford the special technical equipment to provide the diagnosis on site.

This is the only life-sustaining option for many affected families to care appropriately for a person with PWS.

It is very impressive to see how much mail the institute receives from all over the world. Even test samples on simple coffee filter paper arrive when laboratory filter paper is not available.

Last time I visited B.I.R.D. was in 2002, when Giorgio Fornasier, father of the now 40 years old Daniele with PWS and the former president of IPWSO, organized the IPWSO members meeting of 25 nations at B.I.R.D. That was a truly emotional meeting!

Giuseppe and Anna Baschirotto

Today, 15 years later, I was really impressed by the Baschirottos. Their life´s work is characterized by their never ending support and their confident empathy.  Mauro, their son, died at age 16 because of the now known Apeced autoimmune syndrome. It was then that they decided to support research and therapy for rare diseases. Today, a very dedicated team of molecular biologists, human geneticist and MD´s make it possible to diagnose rare diseases like Prader-Willi Syndrome, Apeced Syndrome, Lesch Nyhan, Krabbe Disease and Metachromatic Leucodystrophy.  Outpatient medical care and rehabilitation programs are also offered on this site. In former times the property was the summer residence of Venetian aristocrats. Later on nuns used it as an orphanage, before finally the Baschirottos became the owners.

BIRD

It is of great importance that affected families can meet and share in this special environment. They can experience here that support is offered and that they are not alone in this situation. Because of the close contact with Giorgio Fornasier, the Prader-Willi Syndrome found particular attention at B.I.R.D. 

PWS rehab camps are offered here twice a year. During these camps, PWS individuals and their families benefit from medical care and also learn more about PWS management.

Beside the DNA diagnosis, PWS genetic research is conducted here. Currently test samples of four PWS patients are kept here under special conditions (temperatures of -80° Celsius) because the financial support of the Canadian Foundation of Prader-Willi Research for the project  "Insulin driven-translational capacity is impaired in fibroplasts of  Prader-Willi Syndrom" ended. A new sponsor has to be found...

 

Tests are kept at -80C

It was such an impressive experience for me to meet a couple like Anna and Giuseppe. Their charisma, their commitment and their humor are priceless, and their encouragement to keep supporting PWS families worldwide is much appreciated.

(IPWSO expresses its huge gratitude to the Baschirotto's and their team of staff who make many PWS diagnoses for families around the world.  All PWS diagnoses are subsidised by IPWSO and free where this is otherwise unavailable.)

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.

When IPWSO came to Ireland

by M.H.

Having a rare disability in a small country presents particular challenges.  There is likely to be little expertise within the country and convincing professionals to take an interest in a diagnosis that they will seldom encounter is a difficult task.  Having only a small numbers of people affected by a particular disability also renders many types of research unfeasible.  Tailoring services (when they exist at all!) to take into account the differing abilities and needs of those diagnosed presents practical challenges.

However, one can argue that there are also advantages to isolation as far as having a rare disability is concerned.  For a start, it may encourage families to educate themselves more and to become stronger advocates.  It may prompt families to rely more on each other and to work more closely for the benefit of those affected.  It may also encourage people to look beyond parochialism and the confines of their own country and to recognise that they can learn from around the world.

In small countries expertise in PWS is more likely to be concentrated in a small country into fewer centres. This allows for a channelling of the majority of people with PWS into one clinic, thereby creating increased knowledge of the PWS population than might be the case in countries with larger populations.  

Ireland, with a population of little over 4.5 million, is a small country.  Approximately 100 people have received a genetically-confirmed diagnosis of PWS in Ireland since testing began here in 1995.  However, it is believed that there could be up to 150 people who have PWS living in the Republic of Ireland and up to 60 in Northern Ireland. 

In September 2014 a shining example of learning from other countries occurred in Ireland when at the Prader-Willi Syndrome Association Ireland (PWSAI) annual conference, eightspeakers affiliated with IPWSO, all experts in their respective fields and all based outside Ireland, presented to Irish families alongside one speaker from within Ireland.

The presentations by IPWSO speakers served to reassure Irish families that many of the services and recommendations that were being offered in Ireland were indeed in accordance with international practise.  Their presence provided an opportunity for people to ask questions of experts who had dealt with very large groups of people with PWS over a long period.   It also highlighted gaps in services in Ireland and, we hope, provided an impetus for further advocacy by individual families and PWSAI.  The distribution of leaflets about research studies being conducted outside Ireland, but for which Irish participants were being sought, also offered an opportunity for Irish families to contribute to research.

Some parents reported that they felt hugely enriched by the informed content and depth of the talks that were given on the day.  For the first time ever, we witnessed parents of younger children feeling less scared than they would have been previously about adult services. The information provided by Hubert Soyer, Susanne Blichfeldt and Georgina Loughnan was particularly reassuring to them and one participant suggested promoting “A Lifespan Approach” for a country conference every four/five years.

 

Professor Susie Cassidy (IPWSO Chair)

It was a long day, but a very stimulating day!  PWSAI expressed its sincere gratitude to IPWSO and all the individual speakers.  We hope and believe that this event will leave a lasting positive legacy for people with PWS in Ireland. 

Not alone that, but we also hope that the IPWSO trip will lead to benefits for people with PWS around the world, as IPWSO  took the opportunity to hold a face-to-face board meeting over two days while in Ireland.  Ambitious plans were agreed and actions drawn up with a view to further advancing IPWSO's mission of improving the quality of life for all people around the world with Prader-Willi syndrome and their families.

IPWSO's stay in Ireland concluded with two members of IPWSO, Janalee Heinemann and Giorgio Fornasier, continuing to spread the word about PWS at the European Society of Paediatric Endocrinology Conference, which was also held in Dublin.  You can read about their experiences in our previous blog.

Some of our IPWSO Board members enjoying Irish hospitality