Eventually, after 10 months of too-ing and fro-ing with the family doctor, Peter was referred to Crumlin Children’s Hospital. “Basically I was told after a number of tests that Peter would never be anything more than a vegetable and that I would be better off putting him in a home. We weren’t expecting that. But myself and my husband Tony looked at each other and said ‘no way’. I knew he could recognise me. He could smile. I felt he would walk and talk. Something told me the doctor was wrong,” Lena says. (Examiner) >

‘This is our life now and not in a bad way’

By Catherine Shanahan

Tuesday, December 20, 2011

OISÍN O’NEILL likes routine, hurling, helping out on the farm and eating low-fat crisps on a Friday.

In this respect, he is no different from most kids. If, at a glance, you were asked to spot what you thought might set him apart, it’s likely his Nordic blonde hair would be your answer. But dig deeper, and beyond this superficial distinction you will find a number of very singular qualities not usual in most eight-year-olds.

Oisín is “different” because he has a syndrome which most of us are either blissfully ignorant of or badly briefed on. The common response to a mention of Prader-Willi Syndrome (PWS) is “Isn’t that the one where the kid can’t stop eating?”.

While the answer to this question is yes, there are many other aspects to this condition, albeit none as headline-grabbing as the kind of image conjured in headlines like “The pantry’s off limits to Casey” [Courier Mail, Queensland, Australia, August 27, 2002].

A US study of media representations of persons with PWS carried out in 2007, found because the syndrome typically (but not always) affects physical and cognitive development, individuals with it “are likely to be described along stereotypes commonly used to define persons with disabilities”.

The study Fat, Furious, and Forever Wanting Food: PraderWilli Syndrome in Major Newspapers, 2000-2005 found media coverage of PWS was “overwhelmingly or mostly negative focusing on severe issues related to food-seeking behaviours, obesity, cognition, and behaviour”. To illustrate the point, it cited a number of newspaper headlines:

* “Toddler chokes to death on marshmallows: Boy had rare eating disorder.” [Ottawa Citizen, July 30, 2001].

* “Prader-Willi: Appetite for destruction.” [The Press, Christchurch, New Zealand, March 3, 2004].

* “Boy whose brain keeps telling him he’s still hungry.” [Daily Telegraph (London), June 10, 2004].

* “Please, Mum, may I have some more?” [Straits Times (Singapore), June 20, 2004].

But while there is no denying the challenge food poses in the lives of those with PWS — even more so at this time of year heading into the festive season — parents living with the daily reality of the condition believe it’s hugely misunderstood.

“We were waiting for him to eat us out of house and home, and it still hasn’t happened,” says Ann O’Neill, mum to Oisín.

Instead her son is slender and, through carefully controlled small portions, Ann is hoping to keep it that way for as long as possible. This will be a challenge going into the future.

An abnormality on chromosome 15 which gives rise to the syndrome, means the part of the brain that tells us when we’re full is missing, leaving a constant sense of hunger. This, together with a lower metabolism common in children with PWS, means food intake must be rigorously policed.

For instance, Ann wouldn’t take the risk of sending her son to a party without his own party bag because that way, she knows exactly what he’s having. Her second son, Rory, 5, “wouldn’t know the difference between a Twix and a Twirl” because chocolate is not a regular fixture in their household. And she admits that it’s hard to be spontaneous around food.

“I brought my six-year-old Gráinne to a café for a slice of chocolate cake recently and she told me it was the best day of her life,” Ann says.

This necessity to strike a balance between meeting the needs of a child with PWS and the needs of the rest of the family is probably one of the biggest challenges in dealing with the syndrome. A lot, but not all with PWS, have behavioural problems. Oisín is prone to tantrums.

“There are days when he’ll cry after breakfast and it can go on and on for the day and those are the days that I pray for bedtime,” says Ann. He gets upset by the unexpected. “He’s definitely on the autistic spectrum in terms of needing structure in his life,” Ann says.

“For instance, the Karate Kid was due to be shown on TV recently and the kids were looking forward to watching it, but just before it started, two guys arrived to fix the flooring and pulled the wires out of the TV. The others were upset a bit, but got over it. Oisín was distraught.”

The way his brain works, there’s only one way to do something. He doesn’t really understand humour. Everything is literal. When his sister said she’d lost a tooth, he said “You didn’t, it’s in your hand.”

His brothers and sisters — all four of them — adore him. In a recent radio documentary outlining Oisín’s story, Rory described how they gave his older brother a “big bualadh bos” when he managed to cycle the distance from their own house in Monagoul near Ballymacoda in East Cork, to his nearby grandmother’s house, and how, though he kept falling off his bike (one of the features of PWS is low muscle tone and they struggle to keep up with other children) — he never once cried.

“It’s at moments like this that I realise what Oisín brings to our family,” Ann says. “I hope that his brothers and sisters will grow up with a sense of empathy and kindness.”

Ann’s sense of what Oisín might bring to the family was not clear-cut initially. She had concerns for his health from birth. While she enjoyed what she describes as “the perfect pregnancy” — there were no warning signs in her scans — she remembers that when her waters broke it was as though “a dam burst”.

“I now know that amount of water wasn’t normal,” she says. But what really struck her was how quiet and passive her child was, how he never cried and how, when she put him to her breast, he showed no interest in being fed. “He was very floppy, off-colour, he had no inclination to feed, which I later learned was due to low muscle tone.”

Initially the doctors thought he was two months premature but Ann’s gut instinct was saying otherwise. Eventually, a paediatrician came to look at him and, seeing that his heart and oxygen levels were fine, turned to leave. “I knew then I could either bury my head in the sand or ask him to pick Oisín up and take a closer look. He came back and picked him up and Oisín was like a rag doll. The paediatrician said ‘Yes, there is something wrong with your child’.”

Three weeks and a battery of tests later, Oisín’s condition was identified — chromosome 15 was deficient and he was diagnosed with Prader-Willi Syndrome, a condition which can come with an array of challenges including developmental delay, poor weight gain in infancy, followed by rapid weight gain due to hyperphagia (uncontrollable hunger), short stature, and mild to moderate intellectual disability, including learning disabilities in older children and adults.

At this stage Oisín had gone home with his parents who had learned in two days the intricacies of feeding through a tube. “I got a phonecall saying ‘Come back to the hospital and bring your husband’,” Ann says. They were given the bad news. The consultant admitted knowing little about the condition. “He handed us an A4 sheet, downloaded from the internet, full of horror stories,” Ann says. He told us that Oisín would walk and talk and all we could think was “Is that supposed to be enough?”

Dad Ray says he and his wife both come from families where you’re expected to “get on with it”. “Whatever life throws at you, you get up and go again,” he says. However, they found themselves in a place they had never imagined.

“People we knew at the time all had healthy, perfect kids and not at any stage did we think this would happen to us,” he says.

Ann contacted the Prader-Willi Syndrome Association Ireland (PWSAI), a support group for those with PWS and their families. Lena Lawlor was her first point of contact. “Her son Peter had PWS. When I first spoke to her, he was in his early 30s and in a residential home. I nearly crumbled when I heard that. I couldn’t contemplate it.”

Ann had in the past worked with special needs kids and she and her husband decided to throw themselves into learning what they could about PWS. They cleared out the “treat cupboard”. “There was a press full of chocolate for me because I love chocolate, and I remember clearing it out frantically. We were so strict on ourselves and Oisín was only a baby. I don’t know why we were that strict, but I suppose we started the way we meant to go on,” Ann says.

She also made a conscious effort not to hide her child away. “Everything was fine at home, but when I went to things where other babies were interacting, that was hard. But I’m glad I got out there. Hiding at home is of no benefit to anyone and it got me talking about PWS and it helped me to accept it.”

Oisín made it to mainstream school — Kilcredan National School, near Lady’s Bridge — where he has a special needs assistant. Academically, he will never be on a par with his peers. Ann is keen to emphasise however not all kids with PWS have learning disabilities. She has met PWS children who have done their Junior and Leaving Certificates. Her advice to any parent dealing with a recent diagnosis is to take every day as it comes.

“Oisín is a very happy child and we work very hard at that. If you reason with him in advance of something happening — in as far as that is possible — he’s usually accepting of it. But you need to stay on your toes. For instance, if you’re going to a restaurant, explain in advance to the waitress that you must have small portions. Oisín is very slight and small portions are his saving grace. Challenging behaviour is probably our main issue right now.”

Christmas will bring its own challenges. Santa has been asked to bring each child a selection box, with the exception of Oisín, who will receive his own “allowed treats”. “I guess what it boils down to is we just can’t eat ad lib in our house, food can’t be left out and on display. Food, including treats, are given at certain times during the day even Christmas day,” Ann says.

“Our kids will probably be the only ones that will make their selection boxes last all over the Christmas.”

Moreover, the family won’t spend Christmas indoors watching movies. Oisín needs his exercise and this is made into a family affair either walking the local beach or swimming in the local pool or cycling.

“For us, having a child with Prader-Willi just means you are working at it all the time, watching the food, making sure he gets his exercise, keeping him in some sort of routine; but we really just see it as our life now and not in a bad way. It’s just our way.”

While his parents could not and would not try to predict his future — they don’t know if residential care is on the cards or what the dynamics of a house full of teenagers will dictate — there is one thing they are sure of: their son holds a pivotal place in their lives. There is a song, Ann says, that captures how they feel about him. The first time she heard it, he was lying in a little glass case in neo-natal, a tube up his nose. “A song came on the radio. It was ‘Are you ready for love?’ I said ‘Oisín, that’s your song’. That song sums up Oisín and how we all feel about him.”

PETER’S STORY

‘I was told Peter would never be anything more than a vegetable’ 

WHEN it comes to experience in dealing with Prader- Willi Syndrome (PWS), Lena Lawlor could be classed as a veteran. She has 40 years of dealing with its challenges. Yet the syndrome didn’t even have a name at the time her son Peter was born in 1971.

“I had problems getting anyone to believe there was something wrong. The doctors were saying ‘You have a very quiet, placid child. You don’t know how lucky you are’. But he was very floppy, had a poor sucking reflex and didn’t cry. I knew a baby that didn’t cry wasn’t normal.”

Eventually, after 10 months of too-ing and fro-ing with the family doctor, Peter was referred to Crumlin Children’s Hospital. “Basically I was told after a number of tests that Peter would never be anything more than a vegetable and that I would be better off putting him in a home. We weren’t expecting that. But myself and my husband Tony looked at each other and said ‘no way’. I knew he could recognise me. He could smile. I felt he would walk and talk. Something told me the doctor was wrong,” Lena says.

They brought their child home to Kilmacanogue, near Bray, Co Wicklow, and began work straight away on improving his muscle tone, rolling about on the lawn. They bought him a dog, a move Lena recommends to parents of children with PWS. “The dog would lie next to him and he would pull himself up with the dog and he would run with the dog. I can’t recommend it highly enough.”

Peter was eight before an official diagnosis was made. His doctor had only ever seen three children with PWS and they were in Britain. Lena was told there wasn’t a whole lot the doctors could do. She sent her son to mainstream school but he struggled to keep up. Eventually, help came in the form of his local speech therapist, Ann, who helped Lena find the right school for her son.

He spent many happy years at Sunbeam House Special School in Bray and at 18 moved onto the Sunbeam workshop, where he was taught a variety of practical skills. Then, on his way for a drink one evening, disaster struck when he tripped and broke his kneecap. Because one of the aspects of PWS is a very high pain threshold, Peter didn’t realise the extent of his injury and walked on for some time, aggravating his kneecap further. He ended up having surgery and spent 11 months in a wheelchair. “Peter was now 20 years old; his weight had soared from 10 to 17 stone. With his knee injury, exercise was almost impossible. At this point I didn’t know which was worse, Peter in a wheelchair or watching him steal food,” Lena says.

Try as she might, Lena couldn’t watch Peter all of the time — she has five daughters and a busy family life — and she found it impossible to keep him out of the kitchen.

“He used to scrape dinner plates and eat leftovers if you didn’t catch him in time. Other kids have been known to eat dog food.”

One of Peter’s helpers at Sunbeam picked up on Lena’s anxiety and asked if she would like him taken into respite (temporary care to give his family a break). “I didn’t know respite existed. He went for a weekend, it was a very strange weekend for the family left at home; he had never been away from us. But it was the weekend when he started to grow up.”

In 2003 Peter got full-time placement in the first and only PWS House in Ireland, where he lives with four housemates. Lena is one of many families campaigning through Prader-Willi Syndrome Association Ireland (PWSAI) for a second residential house as well as a house for respite care.

In Graifin, Peter’s house, food is monitored at all times and each person can choose a menu for one day per week. The system works well. A record is kept of their weight. When Peter first moved out, his family was devastated, but his room at home remains his whenever he needs it. His time is divided almost equally between Kilmacanogue and Graifin, on the Leopardstown Road. A move to full independent living is not likely because of the need for constant supervision when it comes to eating.

As well as the dietary challenges, children with PWS don’t develop physically like the average child.

They suffer from Hypogonadism: immature development of sexual organs. This can be treated through surgery and hormone replacement therapy (HRT). Lena chose not to go down that route, but acknowledges that it’s a personal choice.

“Their idea of a sexual relationship is a kiss and a cuddle, so in that respect, we don’t have any problems. There is HRT and some parents swear by it, but my personal view is that Peter’s personality is better without hormone treatment.”

Lena and her family have been through many challenges and the best advice she got was in the early days from a doctor who told her never to spoil her child. Her husband stood square behind this.

“In my opinion, it is very important not to spoil the child and to treat them as much as possible like the other family members. Routine and consistency are also very important. PWS can involve temper tantrums and outbursts, but this behaviour does not apply to all children.”

Peter’s siblings were “brilliant with him” Lena says. “He plays a very important part in their lives. He was best man at his sister’s wedding. He is godfather to one of their children. And some of them joined him in Seville in September for his 40th birthday celebrations.”

Peter is back down to 11 stone and his health is reasonably good.

Lena, a founding member of PWSAI, says her advice to parents is to “prepare for everything” and take one day at a time. “I always say to parents: ‘Don’t make too many plans’. Don’t read too much about it. Try not to see it as having a negative influence on your lives. In actual fact, it has the opposite affect. It makes you more compassionate, more patient, more considerate, better able to listen.

“Take your child for physio as early as possible to build up muscle tone, and to speech and language therapy and occupational therapy. Don’t try to learn too much from the internet. The Googling does help you to learn how to control diet but don’t jump too far ahead. I’m glad I didn’t know about PWS. I think I coped better not knowing and treating Peter the same as the other kids.”

MARY ROSE’S STORY 

‘Mary Rose is the most loving and adorable child’ 

THE 12 hours of bliss that followed the birth of their baby daughter gave way to panic the morning after when Margie and Kieran O’Connell’s newborn still hadn’t fed and was whisked to ICU in urgent need of fluids.

Mary Rose O’Connell, born on January 24, 2007, spent three weeks in intensive care before a diagnosis was made 19 days later: she had a rare genetic disorder called Prader-Willi Syndrome (PWS). The consultant who conveyed the bad news did so with a smile, which Margie says “hurt for a long time”. “She told us our daughter would walk and talk and that she had Prader-Willi Syndrome and for reasons I did not understand, she was smiling as she said this.”

Mary Rose went home with her parents to Dungarvan, Co Waterford on St Valentine’s Day, but her arrival was not the exciting affair that most homecomings are.

The first six months were “dreadful” Margie says as the family struggled to come to terms with the demands of a syndrome they knew very little about. The internet had filled them with fear: “There were stories of kids eating raw meat, legs off tables, which is not the case at all.”

However, the normal dilemma of breast versus bottle feeding was replaced with naso gastric tubes, litmus paper, syringes and sterile needles. A regular baby monitor was traded for a monitor on the baby’s tummy in case she stopped breathing. The sleepless nights with cries for food were replaced by alarm clocks set to ensure baby was fed at regular short intervals.

The early “terrifying days” are now well behind them and a life without Mary Rose is unimaginable. It’s also infinitely more manageable than what they ever thought possible.

Mary Rose, five next month, initially attended Seasame special needs pre-school in Dungarvan and has now graduated to Tír na Nog mainstream pre-school montessori in Dungarvan. Margie, who is back at work at Flahavan’s, whom she describes as “a hugely supportive and accommodating employer”, is very grateful to both schools. She is keenly aware of the importance of location when it comes to meeting her daughter’s educational needs.

“We are very very lucky in that we are close to a special needs pre-school, and that in Dungarvan, we have a very supportive early intervention team. However in the current climate, cutbacks are affecting services. I think my difficulties will really start if she ever has to attend a school without special needs assistants,” Margie says.

Mary Rose walks badly and talks poorly but is an incredibly loving child and well able to fend off brother Billy, 6.

But there are regular dietary challenges. Margie does her best to keep sweets out of the picture but lack of awareness of her daughter’s condition can make it difficult. “For instance in one hardware store that we visited, she was offered a lollipop five times. And festive occasions can be really difficult. It is very easy for someone with PWS to become morbidly obese. Even with Mary Rose on a low-fat, low calorie diet, she is slightly overweight.”

Mary Rose’s fine motor skills are “very poor” Margie says and parent/teacher meetings are a very different experience to those relating to her son. “I’d say a good rule of thumb for children with PWS is that they are about half the mental age that they should be.”

Healthwise, Mary Rose has a couple of challenges including regular spinal surgery for her scoliosis (curvature of the spine), but Margie feels much more in control now. Her diary is littered with medical appointments for her daughter — occupational therapy (OT), speech and language therapy (SLT), physiotherapy — and they have to “fight for everything”.

“We would like if state agencies took note of our issues and lack of resources to deal with specifics of the syndrome. We would like to highlight that available therapies (physio/OT/SLT) are inconsistent and depend on your location and how loud you shout. We would like to point out that we need SNAs, we don’t have medical cards,” Margie says.

Having a child with PWS is hard work, but very rewarding. “There are a lot of challenges but in the main, we are very happy. It is not the end of the world to have a child with PWS. It is actually an incredibly precious gift. It certainly makes you less selfish,” Margie says.

She now understands what lay behind the smile of the consultant who delivered their bad news. “She knew that things could have been a lot worse. Other kids in her clinic had no hope of ever walking or talking or of bonding with their family. Mary Rose, on the other hand, is the most loving and adorable child and has given us far more reason to smile than to cry.”

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