Born survivor Arthur beats all the odds

Published on Tuesday 13 January 2009 09:30

GRASPING his gran's hand tightly, Arthur Pearce takes tentative steps across the living room carpet.

At 21 months old he should be running around causing chaos, but he has only just begun to toddle and his efforts are audible in the wheeze which emanates from the plastic tracheotomy valve in his throat.

It's not the only sign that Arthur is not like other children his age. There's the faint scar from the repair done to his cleft lip, the palsy in the right hand side of his face which has left it unable to move, and the fact his right ear protrudes at an odd angle from his head. Then there's the tube in his stomach through which he is fed every night from 7.30pm to 2am.

For Arthur suffers from CHARGE syndrome, an extremely rare condition which affects one in every ten thousand babies and which is believed to be caused by a genetic malfunction which is neither inherited from parents or apparent while in the womb. As a result, his problems came as a complete shock to his parents Jillian and Richard when he was born on April 3, 2007, at St John's Hospital in Livingston.

"My pregnancy was fine," says 34-year-old Jillian, watching Arthur closely as he toddles around with gran Barbara Cairns. "It was different from my first, when I had my other son William but there was no suggestion that there was anything wrong until he was born.

" The midwife told me he had a cleft lip. That came as a shock itself, to be honest it was devastating, and then there was his 'dicky' ear."

She adds: "The cleft nurses came from the Sick Kids to see us because there were obviously feeding issues because he had a cleft palate too. He was in intensive care being fed by tube through his nose, which was a nightmare as he kept pulling it out.

"I intended to have Arthur and then come straight home but we were in hospital for four weeks. But at least during this time they got a genetics specialist from the Western to look at Arthur and he told us just from looking at him that he had CHARGE syndrome."

Those first four weeks ended up stretching into 15 months of hospital visits. "About a month after he was born he developed severe reflux, and ended up in hospital again, the Sick Kids this time," recalls Jillian. "He couldn't be fed any other way except by nose tube and because he kept pulling it out he had to stay in. He was in for four months until they gave him the plug in his stomach to feed him instead."

The plug meant that every night Arthur would be hooked up to a machine in his Broxburn home, and be fed while he slept. But Arthur's troubles didn't stop there. By this time it was apparent he was also suffering from facial nerve palsy on the right side of his face and while his right ear was severely underdeveloped, the bones and muscles inside his left ear were also found to be small.

But, the following month, he was operated on to have his clef lip and nose repaired, and his parents hoped that once he'd recovered he would finally be able to eat normally. "The operation was very successful, and by the December they did a swallow test and the results were that it was safe to start him on solids, but were inconclusive on liquids," says Jillian, a former Pensions' Trust administrator. "But he had lost his natural ability to suck so the tube feeding continued.

"Then, in the February, he was back in hospital to have his cleft palate repaired, and they were two-thirds of the way through when they discovered he had narrowed airways. But we were allowed to bring him home, so not only was he being tube fed at night, but he also now had a tube back in his nose to help him breathe while he slept."

Unfortunately, Arthur kept pulling that tube out as well, so the Pearces spent the next three months doing a round trip to the Sick Kids' every night. "I would pack up the car with Arthur and William, who was nearly three by this time, and drive to the hospital and Arthur would sleep there and I would go back home again, and then return to pick him up in the morning. The last resort was to give him a tracheotomy and that was done last June."

Jillian tells Arthur's story with the kind of matter-of-fact resilience which parents of children with severe health problems always seem to display. But she admits it's not been easy – especially as her husband Richard's job as an electronics engineer sees him work away from home.

But she adds: "We have been lucky though in that he doesn't appear to have any of the internal organ abnormalities which many children with CHARGE have."

Despite everything, Arthur could outgrow most of his problems, but all of that is dependent on him eating. And as he's been fed through a tube since birth, he is now afraid of swallowing. "He can suck food for flavour," says Jillian, "but he won't swallow anything. Physically he should be able to now, but it's like he's terrified of having solid food in his mouth."

The Pearces plan to take Arthur to Austria in March for a three-week intensive course at the University Children's Hospital of Graz – the only European clinic which teaches tube-fed children how to eat. "It takes children from all over the world who have Arthur's problems, but, of course, it costs a lot as it's residential, and I'll also have to take William with me. It amounts to 5500 Euros a week, which is basically 15,000."

As a result the Pearces – and the Cairns – have been fundraising to try and meet the costs, and have written to charities and trusts asking for donations. "No matter what, we're going," says Jillian, adamantly. "It's Arthur's only chance, and the longer we wait the worse his phobia could get.

"I'm not letting lack of money stop us. He will be two this April and I would love to know by then if he will ever eat normally."

&#149 To help with the Pearces' fundraising, e-mail [e-mail]. co.uk. For more on the University Children's Hospital of Graz, visit www.kinderpsychosomatik.at

WHAT IS CHARGE?

CHARGE is a rare condition which affects one in every eight to ten thousand births. The frequency is the same in males and females.

&#149 The name CHARGE is made up from the initial letters of some of the most common features seen in this condition.

C is for Coloboma, an eye defect caused by failure of the eye to form properly. H is for heart defects. A is for atresia of the choanae, which means that one or both of the nasal passages may be blocked or unusually narrow. R is for retardation of growth and developmental delay. G is for genital anomalies, such as undescended testicles. And E is for ear problems.

&#149 Many cases of CHARGE are caused by a new mutation in the gene CHD7. This gene was only discovered in 2004.

&#149 For parents with one child with CHARGE, the recurrence risk is low but it is probably around one to two per cent.