By MARTIN JOHNSTON, Health reporter
Six-year-old Ben Silvester's parents are sure that his extremely rare enzyme disease would have killed him within days of his birth had he been born in New Zealand.
Even in London, across the city from one of the world's leading specialists in Ben's kinds of disorders, he
suffered fits, stopped breathing and nearly died. The specialist arrived just in time.
"Almost everyone with the disease Ben's got dies in the neonatal period," says his father, Mark Silvester, of Auckland.
"In New Zealand they just don't see the rare diseases enough for there to be any chance of recognising what it is."
Ben's condition made him such a regular at his London hospital that he was specially invited to an audience with the late Princess Diana.
About a month before she died the Princess was opening a new wing at the Northwick Park Hospital. Ben, then aged 2, was one of a room full of children whom she met and cuddled, his mother, Michelle Silvester, said.
Only when Dr Callum Wilson, a New Zealander who qualified under the London specialist, was hired by Auckland's Starship hospital last year did the Silvesters, both physiotherapists, feel confident to shift home to live.
Dr Wilson now heads the Starship's new national metabolic disorders service. The $750,000-a-year service, financed by the Health Ministry, will be officially opened today.
Genetic metabolic disorders, of which nearly 400 have been identified, prevent the body producing certain enzymes.
It is then unable to process some food types or recycle parts of cells.
Chemicals, ammonia in Ben's case, can build up and damage the brain and other organs.
The most common of the disorders, phenylketonuria (PKU) affects only one person in 15,000. Ben is thought to be one of only 20 people alive in the world with his condition - arginosuccinicaciduria.
Dr Wilson, New Zealand's sole specialist in metabolic diseases, estimated that 60 babies were born in the country each year with them. He says only half were diagnosed because their rarity meant they were not widely understood.
The Guthrie test - a blood-test prick on newborns' heels - was used in New Zealand to check for conditions including five metabolic disorders.
But this could be expanded to 30 with a $1 million testing Machine used overseas, he says.
Ben, a pupil at Woodlands Park School in Titirangi, can not process protein. He was now stable, thanks to a low-protein diet and medicines, but has suffered some brain damage.
"His speech is delayed and he's a little clumsy on his feet ... but he's very social," Mr Silvester says.
"I don't like hospital," says Ben, who has been admitted at least 50 times, but his mother says he preferred hospitals to school.
Dr Wilson, who will run clinics in several cities, says the treatments for metabolic disorders include regular doses of the missing enzymes, vitamins, special diets, and, as a last resort, liver or bone marrow transplants.
In addition to Dr Wilson, the service employed a dietician, specialist nurse and laboratory scientists.
By MARTIN JOHNSTON, Health reporter
Six-year-old Ben Silvester's parents are sure that his extremely rare enzyme disease would have killed him within days of his birth had he been born in New Zealand.
Even in London, across the city from one of the world's leading specialists in Ben's kinds of disorders, he
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