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The missing gene that cost young Richard his life.

W HEN Richard Brettle fell ill, no-one knew what was wrong with him.

The scared 12-year-old just couldn't stop being sick.

He was rushed into hospital where doctors performed numerous tests, but to no avail.

Parents Alan and Carolyn and sisters Jennifer and Catherine stayed by his bedside throughout but never once thought their beloved only son, and brother, had just one week to live.

They watched helplessly as Richard slipped into a coma and died a few days later.

Richard was struck down by an undiagnosed metabolic disease, known as Late Onset Ornithine Transcarbamylase Deficiency (LOOTD).

And by the time doctors had managed to detect the extremely rare condition, it was too late for Richard.

LOOTD meant one of the genes in his liver, inherited from his mother, failed to work. Normally protein is turned into harmless urea which is then passed out in urine. In Richard's case, the protein turned into ammonia. This ammonia passed into the blood stream and was carried to the brain. His brain then swelled and Richard slipped into a coma and died.

The family, from Halesowen, were left shelhocked and devastated. They had no warning and no chance to say a proper goodbye.

And to make matters worse, they soon learned the tragedy could have been prevented.

Because a relative had already died of the condition seven years earlier.

The tragic death of Marcus Bott-Obi at 19 was put down first to meningitis and then a mystery illness. But after Richard's death the case was re-opened and Marcus was found to have also died from LOOTD.

If he'd only been diagnosed at the time of his death, the whole family could have been tested and Richard might still be alive today.

As it is, tests following Richard's death revealed his 22-year-old sister Jennifer is a carrier for the disease.

She now has to make the terrible decision of whether to have children or not. Her offspring would have a one in two chance of developing the condition.

Any children born with the condition would have to avoid protein and would probably need a liver transplant.

If Richard had been diagnosed earlier, he too could have had a transplant and could still be alive today.

Dad Alan, aged 55, said: "Richard started vomiting on Monday, he was taken into Birmingham Children's Hospital on Wednesday and they only diagnosed him on the Sunday.

"By that time it was too late. He died the following Tuesday.

"The doctors didn't know what was wrong with him for five days. Then they contacted an expert in London who put them on the right track.

"If he'd been diagnosed earlier, he could have had the transplant and been given the chance to live.

"For a long while I was angry that he wasn't diagnosed on time but now I know just how rare this condition is. At the time of his death, there were only 28 children with the condition in the world. They all died."

He said: "It was very distressing for us to see Richard in pain and not know what was wrong with him.

"At first the doctors thought he had lead poisoning or had taken some tablets, but he wasn't responding to any treatment for that.

"On Sunday they came to us and said they finally knew what was wrong with him. That gave us hope.

"They warned us he might be brain-damaged but we didn't care about that. We just wanted our boy back.

"Once they had the diagnosis they needed to use three different drugs on him. The hospital had one in stock, called in a pharmacist to make another overnight and biked the third up from London.

"But it was too late. The damage had already been done. They finally told us there was no hope."

Alan, a former BT manager who is now too ill to work after a triple by-pass operation, said: "It was very hard to cope and sometimes it still is. There are nights when my wife and I just sit and cry. We've got two wonderful daughters but he was our only son.

"We're coping with it as best as we can.

"Doctors have said my wife was a carrier and unknowingly gave the defective gene to Richard. She felt terrible. She was really upset.

"She felt so guilty, even though there was nothing she could have done."

Richard died in 1992 and the family set up their own tribute to him in 1993, The Richard Brettle Trust, which raises money for research into the condition.

They believe it carries on Richard's legacy of generosity.

Alan said: "He was a great lad, so generous. He'd come home from school without his toys one day and say he'd given them to someone else because they didn't have any.

"Or he'd come home starved and say he gave his dinner money to another kid who forgot his.

"He was that sort of lad. He shared everything he had. He shared everything with his sisters.

"That's why we decided to set up this trust in his memory. We're trying to carry on where he left off - giving things to other people."

So far the trust has raised over pounds 12,000. Of that, some money went to the children's hospital and some to Richard's school, Earls High School in Halesowen.

Now all the money raised goes straight towards research of the condition at Great Ormond Street Hospital in London.

Alan said: "They are making progress but as yet there is no cure. We'll continue to fund them for as long as it takes.

"We want doctors to be able to make an early diagnosis and give children a chance at life. We never want other parents to go through what we did."

Alan can be contacted on 0121 550 2528.
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Publication:Sunday Mercury (Birmingham, England)
Date:Jun 28, 1998
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