Prader-Willi Services Must Improve

Services in Ireland for patients with the rare genetic disorder, Prader-Willi syndrome, need to be urgently improved, experts have said. The syndrome, often referred to as PWS, typically causes poor muscle tone, short stature, incomplete development of the genitalia, cognitive disabilities and problem behaviours. However it is probably most recognised by a chronic feeling of hunger, which can lead to excessive eating and subsequent life-threatening obesity.

PWS affects around one in every 12,000 to 15,000 people. Over 100 people in Ireland are currently affected.

In an attempt to raise awareness of the condition, the first national Prader-Willi syndrome meeting is being held in Dublin this weekend. The meeting will be attended by patients, carers and healthcare professionals, including experts from Ireland, the UK and the US.

Topics set to be covered include diet, physiotherapy, behaviour issues and community support for those affected.

“We hope that this important meeting will highlight the urgent need in Ireland for specialised care for children, adolescents and adults with Prader-Willi syndrome, including multidisciplinary hospital clinics and specialised residential facilities for some adolescents and adults”, commented Prof Hilary Hoey of the National Children’s Hospital.

She emphasised that with early diagnosis and medical intervention and support, ‘people with PWS can lead a happy and meaningful life, contributing to the community and to society’.

“Recent developments in the treatment of PWS patients have resulted in them living longer, but this in turn needs to be addressed in order to ensure that a seamless continuum of care is provided, especially for teenage and adult patients”, Prof Hoey said.

Also speaking on this issue, Angela Kerins, chief executive of RehabCare, pointed out that just three years ago, people with PWS and their families faced the stark choice of having to leave Ireland to access a vital service, ‘or simply struggle on with no expert help’.

In 2003, RehabCare set up the country’s only residential care facility for PWS, Graifin House.

“Our pioneering service has transformed the lives of many people, people who now have the opportunity to be part of their communities, live independently and to make the most of their abilities”, Ms Kerins said.

However further investment is ‘urgently required’ to provide extra dedicated residential and respite places, community supports and educational resources, she added.