Those with a rare genetic disorder linked to compulsive eating and learning disability are now living into adulthood. Sylvia Thompson reports
An unhealthy obsession with food coupled with an insatiable appetite and extreme obesity are the defining characteristics of a rare genetic disorder called the Prader Willi Syndrome (PWS).
Although only about three babies are born with the condition in Ireland every year, advances in the management and understanding of PWS means that sufferers are now living into adulthood and thus requiring specialised care facilities and greater awareness of their needs.
The majority of individuals with PWS also have mild general learning disabilities. "They simply can't help seeking out food. They will eat anything and some of them will search in bins for food," says Grainne McCarrick, manager of Graifin House in Leopardstown, Dublin, the first Irish residential centre for adults with PWS.
At Graifin House, the residents plan meals each week with the help of a dietician. But outside of meal times, they have no access to food.
"The kitchen is locked at all times and the focus is on the activities of the day, whether it's attending sheltered work placements, training programmes, walking or going to the cinema.
"We also have a treadmill and exercise bike for the residents to use and everyone's weight is monitored each week," adds McCarrick.
Damien Egan (27) has been living in Graifin House since it first opened in December 2003. Weighing about 13 stone, he has lost about 10 stone since he arrived. "My legs used to be very sore but they are better now," he says.
Rigidly sticking to his diet and walking every day have been a key factor in his weight loss and concomitant improvements to his quality of life.
Hilary Hoey, professor of paediatrics at Trinity College Dublin and paediatric endocrinologist at Tallaght Hospital, explains that knowledge that PWS is caused by deletion of genes on chromosome 15 has meant that it can be diagnosed by means of a simple blood test.
"It's picked up at birth in babies who are floppy and slow to feed. These babies often need tube feeding because of their poor muscle tone.
"The PWS can also be picked up when obesity sets in in the first or second year or even later."
Three Swiss doctors - Prader, Labhart and Willi - first described it in 1956.
Lena Lawlor, the information officer with the Prader Willi Syndrome Association in Ireland, offers support to parents of babies diagnosed with PWS.
"The first thing I'd advise any parent whose child has PWS is not to read things on the internet. It can be very upsetting and not everything will apply to you.
"It's best to treat your baby as normal, get advice from a dietician on the correct amount of food and take him/her for assessment with a speech and language therapist."
Hoey says that up to the age of eight or so, the special diets of children with PWS can be managed by their parents. As they get older, controlling their access to food becomes more difficult.
"In adolescence, it can be very difficult to control their diet as it is a time of rebellion and seeking greater independence.
"People with PWS have an enormous hunger and an intellectual impairment which is a very difficult combination."
Hoey believes there is an urgent need for a residential centre where adolescents with PWS can stay for short periods of time to control their weight and participate in exercise programmes.
"We take them into hospital sometimes but the illness environment of hospitals is not appropriate for them. Also, it is very difficult to control access to food when other patients are given food by visitors all the time," she says.
"Such a centre could also incorporate a resource centre on Prader Willi Syndrome as more and more people will need to know about it as those with the condition live longer lives," Hoey adds.
• The annual conference of the Prader Willi Syndrome Association in Ireland takes place in Bray, Co Wicklow from October 1st to 3rd. Tel: 01-2868119.