"Send weighing scales and height boards"

IPWSO is proud to offer support to contacts in 103 countries.  These are doctors and parents who, like IPWSO itself, work to raise awareness of PWS and to support people with PWS.  While some of the challenges they report are shared in most or all countries, there are others that are unheard of in richer countries.  Some recent requests received from doctors and parents well illustrate this point.

1.  One doctor requested that IPWSO send him weighing scales and height boards as he simply didn't have the means to obtain these himself;

2. Many doctors requested that IPWSO continue to provide its free diagnosis service whereby IPWSO will fund the cost of genetic testing of any patients suspected to have PWS who cannot access genetic testing in their own countries.

3. One doctor requested that IPWSO send him filter paper to enable him to send blood samples to IPWSO for testing. 

4. Many doctors have requested that IPWSO advocate for the provision of growth hormone to people with PWS in their countries.

5. Doctors and parents alike have requested that IPWSO provide translations of medical guidelines and IPWSO publications.

6. Perhaps saddest of all, many doctors have requested that IPWSO continue to send them information as they hope that someday they will have patients with PWS in their countries that they can identify.  In many very large countries around the world it remains the case that there are no known cases of PWS.  Maybe you can remember what it was like to raise your child not knowing what was the matter, what made him or her so different from others.  IPWSO is working to change this.

Those of us with children who have benefited from early diagnosis that has led to positive strategies to manage the challenges of the syndrome may never pause to think of mothers in countries where none of this is a possibility and who sit and weep for the child they do not understand.  We are a huge organisation around the world and there are countries where parents have found the strength to do something, to build a PWS community where they have found strength in numbers to advocate for their children.  Others have strongly advocated for (and won the right to) growth hormone treatment.  Plenty of PW Associations have gained respect at schools by teaching teachers what their child needs, and residential services have benefited from their specialised knowledge. 

For most of us, it is almost impossible to imagine life without these supports.

For other parents, this kind of support will never happen.

One of the things IPWSO has done to acknowledge that there are families desperate for support is to initiate “FamCare”, a board which is composed of parents and professionals giving their best advice answering the questions “how do I …”  “what do I do when…”  FamCare knows what you are going through and can support and offer help.

I wish we could do more.  I wish we could say “here’s the cure… here’s what will solve the problem”, but we can’t, any more than our best scientific researchers can.

But we can help!! 

IPWSO will do its best to find the scales and height measurements needed, IPWSO will continue to offer free diagnoses where none can be found, IPWSO will get the filter papers to the doctors that need them… and IPWSO will continue to put parents in contact with other parents around the world.

By keeping our PWS community alive, by sharing not only our heartaches, but our successes, our milestones, and the crazily wonderful things that happen, we offer support, strength and understanding.  Yes, we need financial support to help doctors like the ones we’ve mentioned above, but we also need everyone in the world to understand that PWS is not a life-sentence in the way it used to be, it’s just a different way of living, of understanding how the world turns, and how we can learn from it.

IPWSO, an organisation made up of parents, scientists, professionals and people with the syndrome around the world, is united in its determination to keep learning, keep researching, keep sharing, and keeping strong in every possible way, in every country that needs us – all of us.  It’s a solidarity we are lucky to have.

We will help the doctors in countries where there is no support; we will help the parents, and we will do this knowing that you support our work in the world.  If you have a question that needs answering, if you know of a family who needs support, if you have some great stories to share with us… drop us a line!

And...thank you for being part of IPWSO!

Dietary Management in PWS - the absurdity of it all!

By MH

I recently had the great pleasure of interviewing a group of parents about dietary management in PWS.  The interviews were recorded for a training film and were designed to find out the practical actions that parents take to manage food. 

The commonalities in both problems faced and management strategies applied were striking.  One speaker after another spoke of stress being caused by peas rolling off plates and the need to have replacement peas close at hand!  Surprisingly to me, grandmothers came in for particular and consistent criticism for giving inappropriate food to people with PWS. 

Many parents, I am delighted to say, were able to laugh at the absurdity of it all.

Of course, this all led to me reflect on what I (a parent of a son with PWS) do and, in particular, led me to think about some of the odd things that I could never have imagined when I first heard of PWS.

For example ...

My son refuses to use a knife.  I'm pretty sure it's because he knows that he is not allowed to put his knife in his mouth and is terrified at the prospect of some food sticking to his knife that he will then not be able to eat.  So, I either cut his food for him (which he doesn't like as he considers himself too old) or he laboriously attempts to cut it himself using the side of his fork.   

I increasingly find myself not finishing the food on my plate until my son has finished his own meal.  Why?  It's in case some mishap occurs to an item of food on his plate that I then need to have a immediate replacement for. Most of the time I'm not even conscious of doing this.

I "sneak" food.  When I find myself hiding in my utility room (which isn't visible from any other part of the house) eating a piece of fruit, I usually don't find anything odd about my behaviour.  But every now and again, I am reminded that this is all slightly RIDICULOUS.

I have concluded that I cannot give my son a full apple, not even a very small one.  Why?  Because he invariably eats the core and then becomes upset.  I know that he doesn't intend to eat the core, but worries so much that he may leave an uneaten piece of apple behind that inevitably he swallows everything and then starts to worry.

I regularly find myself having to call my son repeatedly when his meals are ready.    I assumed that my son's interest in food would rapidly propel him to the table for each and every meal, but no, this is not what happens.  Rather, if he is in the middle of another activity his desire to finish the activity is usually greater than his desire to come to the table.  As a result, at least every other day I find myself repeatedly calling him while the rest of the family sit waiting.  This was not what I expected PWS to look like.

I regularly lie about food.  In fact, lying is probably one of the strategies I employ most frequently in dealing with dietary management in PWS.  So, if my son asks (for the 3rd time!), if I checked the expiry date on his yoghurt, I will lie and claim that I did.  If he asks what I have been doing in the utility room, I will, without any guilt, invent a story that has nothing to do with food.

I felt privileged to have an opportunity to listen to other parents talking about how they manage food.  Hearing what they did made the absurdity of it all even more obvious to me.  It also made me feel proud to be part of a group of people who have found ways to cope with what is a supremely difficult task and, sometimes, even manage to laugh about it.

*** 

I always remember a mother of an adult son with PW being called out of the house by her neighbour just as the roast dinner was ready.  She hid the full roasting pan in her husband's wardrobe...  Editor

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

The Role of IPWSO at ESPE in Ireland, 2014

by Janalee Heinemann ~ IPWSO Vice-President

Although the European Society for Pediatric Endocrinology (ESPE) is three days of long hours and a lot of work preparing before the conference, it always revitalizes our spirit and enthusiasm. Giorgio Fornasier and I distributed memory sticks with extensive information on Prader-Willi syndrome including the medical alert booklet in 16 languages to 330 endocrinologists from around the world. They all were absolutely delighted to get so much information in such a small package. We had all of the articles displayed so they could see what information they were getting, and also gave some of the endocrinologists a hard copy of the Medical Alert booklet in their own language. There were eight posters presented on PWS at the conference. 

Giorgio Fornasier with doctors from China

We want to give a special thanks to Pfizer for their donation of an unrestricted educational grant that makes our involvement in these conferences possible.

Besides general education for physicians working with the syndrome, the ESPE meeting gives us an opportunity to learn a lot about what is going on in each country, and how to enhance our connections with that country. The following are some examples of touching stories that show the impact IPWSO has had on the world:

·       China is a good example – A country where there had been no diagnosis or education on the syndrome – to the first ESPE where we acquired a professional delegate -- followed up by free diagnosis -- to helping put together the first PWS conference in China in 2005 -- to now less than 10 years later where they are creating guidelines on the syndrome and we had 14 endocrinologist from China come to our booth for more information all stating they now have patients with the syndrome. Several asked if they could take a memory stick back to their colleague who could not attend.

·       Iran is another good example – Just a very few years ago, for the first time, we met a wonderful endocrinologists from Iran who attend ESPE and stopped by our booth to get information – she agreed to be our professional delegate -- followed up by free diagnosis – at this ESPE, we had 20 endocrinologists stop by our booth for information because they are treating patients with PWS.

·       Honduras touches your heart – At ESPE we met the endocrinologists who became the professional delegate for Honduras – followed up by free diagnosis – then two years ago Giorgio and Dr. Moris Angulo went to Honduras to meet with medical professionals and families   (our professional delegate said they knew of 12 families dealing with PWS, but they never succeeded in getting them together) – when Giorgio and Moris came to speak, 10 of the families attended – at this ESPE our professional delegate said they are starting an Association and will have a PWS clinic at their new hospital. Thanks to Giorgio, the Vatican radio keeps promoting awareness on the syndrome in this country.

·       Bulgaria also stopped to give praise – through the same type of evolution – a professional delegate through ESPE – free diagnosis – Giorgio and Pam Eisen going to Bulgaria to meet the professionals and families – to the professional delegate at this ESPE thanking Giorgio and saying now they have an Association. He said they have officially made Giorgio half Bulgarian!

·       United Arab emirates endocrinologists said we as parents are an inspiration – two female endocrinologists told of a few very tragic situations in their country including one mother who cried every time she came to see them because her 15-year-old child with PWS was so obese he had to be in a wheelchair and mom did not know how to handle him. They said they wished she could meet parents like us and know there was hope.

·       Then there are the countries in the early evolution – a wonderful physician from Saudi Arabia showed great interest in PWS and getting more connected – we met our first contact for Azerbaijan -- an endocrinologist from Uganda was very eager to get the information and get more connected… and the list goes on.

When you think about the fact that besides a wonderful board of PWS parents and professionals, and only two part-time parent employees who get very minimal salaries, it is amazing to realize that with very limited funding, how much IPWSO does and how many save lives are saved around the world!