People with the rare genetic disorder, Prader-Willi syndrome (PWS), often require around the clock supervision and care. However a lack of appropriate services and supports places a huge strain on them and their families, a new report has shown.

The report was published by the Prader Willi Syndrome Association of Ireland and is based on the first national survey to look at the needs of people with PWS and their families.

PWS is a complex genetic condition that usually causes restricted growth, low muscle tone, learning difficulties, problem behaviours and hyperphagia (an insatiable appetite).

Hyperphagia can lead to excessive eating and obesity. Those affected typically need to have all access to food restricted at all times. This may involve, for example, locking kitchens and restricting access to money.

Around 100 people are currently living with PWS in Ireland. According to the findings of the survey:
-Most of those with PWS have a mild intellectual disability, while 22% of teenagers and 60% of adults have a specific mental health problem
-Almost all babies born with PWS need to be admitted to ICU, with an average stay of 26 days.
-Almost half of adults affected need help with everyday tasks such as showering and using the toilet
-Almost all affected adults require help with healthcare needs, such as taking medication
-None of the survey participants were living independently.

The survey also highlighted the difficulties that the families and caregivers of people with PWS face. It found that just 6% of those caring for young children with PWS have access to respite care. This increases to 40% in adolescence, but falls back down to 25% in adulthood.

It also emphasised that PWS takes a major financial, physical and emotional toll on families and has a negative effect on sibling mental health and family relationships.

According to Jane Cox, whose 18-year-old daughter, Laura, has PWS, living with the condition ‘has been a huge strain'.

"Laura's psychological needs are now such that my husband and I can no longer holiday together, or even go out for dinner as a family. I've had to give up my job as a teacher, which I loved, to become Laura's full-time carer. We are the living embodiment of the survey statistic that 75% of carers of adults with PWS living at home have no access to respite care," she explained.

She said that the publication of this survey ‘validates our everyday struggles, and is a very important milestone for us'.

"We hope it will go some way towards putting more supports in place for people with PWS and their families, and ensuring that Laura will always have the assistance she needs as my husband and I grow older," Ms Cox added.

The report makes a number of recommendations about care, including:
-The development of PWS-specific residential accommodation for adults living with the condition.
-PWS-specific respite services
-Access to consultant psychiatrists who specialise in intellectual disability and rare disorders, including PWS.

For more information on the Prader Willi Syndrome Association of Ireland, click here