KEY POINTS:
His was the moving story of an American boy afflicted with a rare and disabling disease, whose parents would not give up in their search for a cure for him.
This week Lorenzo Odone, whose condition inspired the film Lorenzo's Oil - starring Susan Sarandon and Nick Nolte - died a few days after his 30th birthday and more than two decades after his parents were told he had two years at most to live.
His death at home in Virginia, which came after he contracted pneumonia, has brought to a close an extraordinary, inspirational tale of parents who would not give up hope and a child who refused to stop fighting for life. Lorenzo's parents, untrained in medicine, undertook their own research to produce a therapy for their son's genetic disease, adrenoleukodystrophy (ALD).
Augusto and Michaela Odone's efforts were not enough in the end to reverse their son's condition, but they did produce a therapy that has brought hope to thousands of other parents confronting the same nightmare.
"It happened incredibly quickly," said Lorenzo's sister, writer Cristina Odone.
"He had had pneumonia before. But before the ambulance got to my father, he'd gone. He didn't suffer."
Odone has been a passionate advocate for the therapy developed by her father and stepmother.
Despite the neurological condition that had immobilised all of his motor functions since childhood, Lorenzo's family had long insisted he was not in a vegetative state but "trapped", and able to understand what was being said.
"You could feel him. He was there. His doctors and nurses all felt it. And he was so serene," said Odone. "I know it sounds weird, but he was good-natured."
Lorenzo had been a precociously talented child before the onset of the condition. He was fluent in English, Italian and French, and his favourite stories were from Greek mythology.
But the cherubic child was transformed over a few months in 1984. His attention span dwindled and he suffered mood swings. He began to stumble and have speech problems.
Concerned, his parents took him to a doctor who recommended an immediate brain scan. Lorenzo was diagnosed with ALD.
"The doctors were unanimous," Cristina has written: "'Go home, resign yourselves.' Lorenzo had only a few more months to live."
ALD is a genetic condition, affecting mainly boys, where the body produces a fatty acid that accumulates in the nerve cells and damages the coating of the nerve fibres, called myelin. A rapid loss of motor functions follows, leading usually to death within two years.
But Augusto and Michaela were determined that if medical research had not yet come up with a treatment they would find one themselves.
Undeterred by warnings from doctors that without a scientific background the specialist material would be beyond their understanding, they devoured every piece of published research on ALD. What was not published they would get from the experts themselves.
Augusto realised that if the body could be persuaded not to produce the rogue acid, that might be the first step towards a cure, and even lead to regeneration of the damaged nerve endings.
The Odones settled on an oil derived from olive and rapeseed, and remarkably, although it did not reverse Lorenzo's condition as they hoped, boys with the ALD gene given the oil appear to be given a large measure of protection from the condition's onset.
In a 10-year trial with Lorenzo's oil which reported in 2005, boys with the ALD gene who were not scrupulously given the oil were nearly three times as likely to develop symptoms as boys who were given the oil without fail.
Michaela died of cancer before the results of the study were reported.
Augusto Odone said last week he intended to have Lorenzo cremated so his ashes could be mixed with those of his mother who fought so hard to help him.
DEADLY DISORDER
* ALD is one of a group of genetic disorders called the leukodystrophies that cause damage to the myelin sheath, a membrane that surrounds nerve cells in the brain.
* Sufferers accumulate high levels of fatty acids in the brain and adrenal cortex because they do not produce the enzyme that breaks them down.
* The childhood form is the most severe, with onset between ages 4 and 10. The commonest symptoms are behavioural - abnormal withdrawal or aggression, poor memory, and poor school performance. Death usually occurs within one to 10 years of onset.
- OBSERVER
