Mid-morning in a small village just outside Rugby, Warwickshire, and Ollie Cartwright, 13, is being chased through the house by his dog into the garden. 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. He has undergone 40 major operations to help reshape his skull, and has also had procedures to reposition his thumbs, which pointed inwards. Further growth spurts mean 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 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.
The disorder, which frequently has a genetic cause, sees sutures fusing during pregnancy, and results in the 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 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. 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 reference to a toddler on whom he is about to operate. He then does just that, 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.
"Craniosynostosis has an enormous effect on all the family, including the siblings of the child. But what never fails to surprise me is that they mostly cope so very brilliantly. Not just the children, 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. 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.
Ollie was born prematurely by caesarean section. 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. Mark had to decide with whom to sit. "He chose his son, which I resented. 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 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 to help raise awareness and acceptance.
"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. A simple stroll with the pram, for example, would soon send her scurrying back home because so many people would stop and stare. But Julie in time developed a thicker skin, and became a fighter. "This was my son, and I wasn't going to apologise about him to anyone," she says.
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".
There were problems when they were all home together. "Being in hospital so much institutionalises you," Julie says. "I can remember coming home and feeling completely lost."
The bulk of Ollie's operations occurred in the first six years of his life. In the past seven, he has had just 10. Though he has a developmental age of eight, he is, in many ways, a typically ordinary 13-year-old. 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.
"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."
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 at 9pm.Reuse content