A family’s battle with rare genetic disorder

Children with Prader-Willi Syndrome have an insatiable appetite and can wipe out the contents of a fridge in an hour. Claire O’Sullivan talks to one family whose children suffer from the disorder.

EVERY single day for the past month, Antoinette and Tony Hartnett have driven a 40-mile round trip to see their teenage son in hospital.

David is at an acute psychiatric hospital in Cork but he doesn’t have a psychiatric illness.

He is just 17, while the patient nearest to him in age is nearly 30, as the unit caters for adults.

He hasn’t been to school for nearly three months and his mother and father think he is “bored and withdrawn” since he left his home.

David goes to bingo one day a week and a music session another day. Apart from that, he sits around and listens to his Discman in between meals.

Food is one of the most important things in David’s life as he suffers from Prader-Willi Syndrome (PWS), a rare genetic disorder which affects just one in 15,000-20,000 people.

PWS children are best known for their insatiable appetite, which can’t be controlled from about age three onwards, but they also suffer from obsessive-compulsive disorder, learning disabilities and co-ordination problems.

The part of the brain which tells a regular person they have eaten enough doesn’t work in children with PWS and they could wipe out a fridge in an hour or two if left unchallenged.

The Harnetts are one of just three families worldwide who have a daughter and son with PWS.

“It may sound funny but the children’s appetite is manageable to us as we’re used to it. Their diet is controlled and they are constantly supervised. We don’t have a lock on the fridge unlike many other parents in our situation, as we wanted them to learn the meaning of no,” mum Antoinette said.

“But, if we don’t keep an eye on them, they would eat continuously. They’re always looking for situations to eat. For instance, if we’re going for a drive, the first thing they ask is when and where we’ll be eating,” said dad Tony.

It was only when they noticed a sudden change in David’s behaviour that they realised he was entering a more challenging stage of PWS which often comes with adolescence.

In the middle of last year, he began to repeat questions endlessly even though he had been answered immediately. Then, he wanted to go to bed by day, but as soon as he was in his room, he wanted to be downstairs.

The upstairs-downstairs routine could continue all day and into the night. He was also very aggressive.

In November, he was sent to the psychiatric unit. Ever since, his parents have been pleading for a more appropriate placement for him where he can continue his education, receive behavioural therapy, anger management therapy and be with people of his own age and ability.

“I have been offered other placements but nothing that offers him a real quality of life. One particular place left me in floods of tears. It was like those early pictures of Belarussian orphanages. The patients were just being housed and spent the day walking around this decrepit building,” she said.

“My kids have lovely personalities and I’m not bitter with them, but with the system. I’m also worrying about my 12-year-old daughter Emma, who could yet have to go through the same thing.”

According to Antoinette, if she lived in the east of the country, she would have some hope of her son getting appropriate care.

Irish Prader-Willi Syndrome Association chairman Don Tallon lives in Dublin and has a 25-year-old son with PWS.

Richard was deemed a medical emergency in his teens when his weight soared to 165 kg or 25 stone.

As there was no facility in Ireland, he was sent to England for six years, where in a residential home for people with PWS, his weight halved to 72 kilos.

In early 2003, a residential centre was set up at Leopardstown in Dublin by voluntary group RehabCare with the help of Eastern Regional Health Authority (ERHA) funding.

It offers residential care to six children with PWS, including Richard. Those at Graifin House live a regulated lifestyle with an emphasis on a healthy diet and regular exercise.

“When the children are in a controlled environment they become much calmer and food becomes less of a struggle. They have a quality of life that could not be achieved anywhere else,” Don said.

Up to 68 families are members of the Irish Prader-Willi Association and it’s believed that up to 140 families are battling with the syndrome. Yet, there are only six places at the Leopardstown centre.

“The association is hoping to develop a residential facility where hopefully children can get maybe six months of intensive therapy and then return home. But is that enough and what long-term future is there for my son?” Antoinette asked.

A spokesman for the Health Service Executive (Southern Division) would not comment on individual cases but said PWS sufferers were provided with services and that continuing policy is determined by the Department of Health.

The Irish Prader-Willi Association can be contacted at 01 2868119.

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