Pfeiffer syndrome: 'Now he can face the future'

Born with a disfiguring genetic condition, Ollie Cartwright has had 40 operations. But now he looks like a normal 13-year-old, thanks to the skills of an extraordinary surgical team

Mid-morning in a small village just outside Rugby, Warwickshire, and Ollie Cartwright, 13, at home for the school holidays, is being chased through the house by his dog into the garden, where he very nearly trips over the cat. Ollie, who is blind in one eye, was born with Pfeiffer syndrome, a rare disorder that caused the bones in his skull and face to fuse in the womb. Over the course of his short life, he has undergone 40 major operations to help reshape his skull, and has also had procedures to reposition his thumbs, which pointed inwards. As he enters his teenage years, further growth spurts means he will require yet more invasive operations. One fairly regular one is the reinsertion of shunts into his skull, which prevents water on the brain.

"It pokes out of my skin," Ollie says, indicating a point at the back of his head. "I get a lot of infections there." He considers this awhile, and clearly not for the first time. "I wish I didn't."

Ollie is one of the subjects of a forthcoming BBC2 documentary, My Child In their Hands, that features the work of surgeons at Oxford Hospital's craniofacial unit. One of the busiest of its kind in the world, it performs 120 major operations each year in what is still a little-known condition.

There are reasons for this, argues consultant plastic and craniofacial surgeon David Johnson. Syndromes such as Muenke, Crouzon and Pfeiffer are rare, affecting just one in 3,000 children. Apert is even rarer: one in 65,000. "In other words," says Johnson, "most general practitioners wouldn't see a single case in their entire career."

The disorder, which frequently has a genetic cause, sees sutures fusing during pregnancy, which results in the considerable malformation of the skull. The skull and the brain, Johnson explains, effectively grow in tandem with one another, "but what has gone wrong in craniosynostosis is that the system has been upset. The brain continues to grow, but the skull fails to match it."

There are often secondary problems, including headaches, seizures, developmental delay and blindness. Some children can have difficulty breathing and closing their eyelids due to shallow eye sockets; others cannot smile.

The three-part documentary follows the team over several months as they work with a number of families whose children are affected. One of the most moving programmes of the year, it is also the most unflinching, the cameras regularly trailing the surgeons into theatre. There is a lot of blood.

"I'll just take his old forehead off..." Johnson says in one episode, in reference to a toddler he is about to operate on. He then does just that, removing the front part and, with something not dissimilar to an everyday drill, cutting and reshaping it.

"The bones of the skull can be quite malleable," he says now. "We burr the bone down with power tools to make it thinner, cut it, and even bend it. Our skills," he jokes, "are actually comparable to those of a carpenter."

A highly specialised carpenter, clearly. As patients often require many such procedures during their lifetime, the surgeons consequently become an integral part of their lives.

"Craniosynostosis has an enormous effect on all the family members, including the siblings of the child," Johnson says. "But what never fails to surprise me is that they mostly cope so very brilliantly. Not just the children, who always amaze at how well they manage their individual realities, but the parents as well. They've been dealt a terrible hand, but they make the best of it. They are incredible, really."

Fourteen years ago, Julie Cartwright had a busy working life in hotel management, while her husband, Mark, was a chef. They had a three-year-old daughter, Ellie, and an active social life. But Julie developed complications during her second pregnancy, and late scans of the baby, a boy, revealed that he would likely be born with dwarfism, spina bifida or craniosynostosis, the latter a new word to Julie that she would in time come to know well.

Ollie was born prematurely by caesarean section, and it was to her husband that he was first presented. Moments after birth, Ollie stopped breathing. He turned blue. At the same time, Julie herself was in need of urgent medical assistance, and was taken away for an emergency blood transfusion. As both of them later recovered, Mark had to decide with whom to sit.

"He chose his son, which I resented at the time. But it was good that he did, because it helped him bond with Ollie immediately. Unfortunately, I didn't..."

The hospital counsellors explained to Julie that this was a natural reaction, and nothing to be ashamed about. "I was told that a lot of mothers embraced it immediately, and that some didn't. I just couldn't face the fact that I didn't have a child who wasn't, for want of a better term, normal."

It took almost a year before her maternal instincts took over, but when they did, they did so powerfully. She has since not only moulded her entire life around her son's, but has become an outspoken advocate for the team at Oxford. She agreed to take part in the BBC documentary specifically to help raise awareness for the condition, and also for public acceptance of it.

"I lost a lot of friends after the birth, simply because they didn't know how to treat me, or act around him," she recalls. She received no congratulatory flowers, but rather sympathy cards. Certain people then began to give her a wide berth, and she felt increasingly ostracised. A simple stroll with the pram, for example, would soon send her scurrying back home because so many people would stop and stare, or else cross the road. But Julie in time developed a thicker skin, and became in her own way a fighter. "This was my son, and I wasn't going to apologise about him to anyone," she says.

Though it would bring the family closer together it also, perhaps inevitably, divided them. Julie gave up work and spent much of the first six years of Ollie's life in and out of hospital with him. He was, she explains, "one of the bad ones, with every single suture sealed." As the years passed, her daughter began increasingly to notice her mother's absence. "I spent a lot of time shuttling between home and the hospital, an hour each way," she recalls. "I was there for Ellie as much as I could, but, still, it was difficult." Whenever another lengthy stay at hospital loomed, Julie's mother would come to look after Ellie. And when her mother moved to Spain, Ellie would often be sent to stay with her. One trip lasted three months. "She missed school, yes, but she did at least come back fluent in another language."

But the problems persisted even when they were all home together. "Being in hospital so much institutionalises you," Julie says. "I can remember coming home after long stays, and feeling completely lost. Suddenly, I had to make my own cup of tea; there was washing to be done. And that was strange, because your whole universe becomes the craniofacial unit. They are wonderful people, but it can be a lonely existence."

The bulk of Ollie's operations occurred in the first six years of his life. In the last seven, he has had just 10, which allows the family at least the illusion of a normal life. Though he has a developmental age of eight, he is today, in many ways, a typically ordinary 13-year-old. Rushing in and out of the room while Julie talks, he relates his love of football and rugby, and how his favourite lesson at school is design & technology. He recounts, too, his many escapades in hospital with unflagging enthusiasm.

"I kicked the doctor in the privates once," he boasts, his response to the prospect of yet another anaesthetic. "And I've died on the operating table before, many times! My doctor had to bring me back to life."

During a moment when he is out of the room, Julie starts to say, "If we didn't have Ollie..." But he soon bursts back in, grinning. He climbs into his mother's lap. "If you didn't have me," he says, "you'd be lost." Julie smiles. "We would," she agrees.

As she envisages a likely future for him – "our surgeon told us that he probably wouldn't go to university, but that, otherwise, he could do whatever he wanted" – she talks about having built up a wide circle of friends with other parents affected by the condition.

"Having a child with craniosynostosis puts everything into perspective," she says. "It makes you complain about other things a lot less, and it makes you try to be happy more. We often get our families together, and celebrate over the slightest thing." She laughs. "We have a lot of parties."

Ollie returns, asking if he can take his bike out for a ride. "Put your helmet on," his mother tells him. "Just in case." After the briefest of protests, he does.

My Child In Their Hands starts on BBC 2 on Wednesday 4 May, 9pm.