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.
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|