For almost two decades the medical community told Augusto Odone he was wrong. But he never lost faith in his own belief. After all, his son Lorenzo was living proof that he was right. In 1984 five-year-old Lorenzo was diagnosed with adrenoleukodystrophy (ALD), a genetic disorder that robs sufferers of the ability to see, hear, speak and, eventually, to breathe independently. Medical science had no cure, and doctors warned that the little boy would die within two years.
But Odone and his wife, Michaela, refused to accept that their son would die and scoured the world in search of a cure. The result was Lorenzo’s Oil, a treatment developed by the Odones which inspired the movie of the same name.
Eighteen years after Lorenzo’s parents were told he would die, he is still alive. Throughout that time, Lorenzo’s Oil was ridiculed as an ineffective quack treatment by medics who refused to accept it could help those carrying the ALD gene.
Last week, those medics were forced to eat their words. The results of a ten-year study showed that 76 per cent of children carrying the gene who began to regularly take Lorenzo’s Oil before its symptoms developed remained healthy a decade after treatment began.
"If only the doctors had believed in Lorenzo’s Oil all those years ago, hundreds of little boys’ lives could have been saved," Odone, 69, an Italian living in Washington DC, says. "Instead, a lot of people have suffered so much pain, because the medical community could not accept that two parents, with no medical training , could so quickly find a treatment they had been seeking for years.
"I was not surprised at the results - not at all. But I was delighted that our fight to convince the doctors was finally won."
Michaela Odone did not live to see her faith in Lorenzo’s Oil vindicated. She died of cancer in June 2000, after devoting her life to the care of her only son.
But the legacy of Lorenzo’s Oil will live on, in the lives of the one in 50,000 boys who are believed to carry the ALD gene. The Odones’ battle with the global medical community began 19 years ago, when their happy, healthy little boy degenerated before their eyes. Lorenzo began to stumble. His hearing began to fail. Within two months, the little boy who was fluent in French, Italian and English at the age of five could no longer talk or walk. "He was such a lovely little boy," says Odone, 69. "It is heartbreaking to think back to those days, and how he changed. I always remember one day when my daughter was visiting us, and Lorenzo said ‘Please speak up, because my ears are not so good today’.
"We had no idea that ALD was in Michaela’s family at that time, that Lorenzo was at risk. American doctors are very frank. They told us that Lorenzo would not live. There are no words to describe how it feels to be told that."
The Odones refused to accept the verdict and resolved to find a cure. It is not difficult to see why the medical community greeted their quest with scepticism. Odone was an economist with the World Bank. Michaela, his second wife, was a journalist from New York whom he had met in Milan in 1966. Neither had any medical or scientific training. How could they hope to find a cure, where the global medical research community had already tried and failed? But the sceptics had not bargained on the Odones’ determination. They scoured libraries, and within a fortnight had gathered and digested 200 scientific research papers on ALD.
"We realised researchers did not communicate with each other, and we called the first global symposium of experts on ALD to discuss the condition," Odone says. "It did not seem remarkable to us . We just did it for the love of our son." Researchers were already heading in the right direction. When Lorenzo was diagnosed, doctors believed, correctly, that ALD was causing an accumulation of very long chain fatty acids (VLCFA) in the body. These attack the white matter - the myelin sheath - of the nervous system and the adrenal glands, a process known as demyelination. Without myelin the brain cannot transmit messages to nerves around the body, resulting in the degenerative symptoms of ALD .
Medical science had been trying in vain to find a way to reduce the fatty acid levels in ALD sufferers. It was the Odones who suspected that a combination of two fats extracted from olive oil and rapeseed oil might do this, and they commissioned a UK firm to produce the substance that is now known as Lorenzo’s Oil. Used as a cooking oil, it is simple to administer to ALD patients.
However, the medical establishment refused to accept that these two outsiders might have succeeded so swiftly and so simply, where decades of scientific research had failed.
The Odones’ clashes with doctors, and the scepticism and ridicule they endured, are well documented in the film Lorenzo’s Oil, in which actors Susan Sarandon and Nick Nolte play Lorenzo’s parents. Released in the UK in 1992, it won critical acclaim for its depiction of the blind faith that is parental love, but was attacked by the medical community, which accused it of offering false hope to the families of ALD sufferers with a script that suggested the oil was a cure for those already stricken by the condition.
Among the most poignant scenes is real-life footage at the end of 20 or so little boys with ALD telling the camera how they have been prescribed Lorenzo’s Oil, and how fatal symptoms have never developed.
"Michaela and I never said it was a cure - the oil does not restore the myelin sheath and so the functions cannot return, " Odone says. "But even though the doctors told us Lorenzo would be dead within two years, and they knew he continued to live, they would not accept that the oil was arresting the progress of the ALD, and that it might help prevent the condition developing if it could be administered before the symptoms began.
"Parents were going to the doctors and saying, ‘Should we use Lorenzo’s Oil? Will it help my son?’ And the doctors were saying that it didn’t work, there was no scientific proof. So many people did not bother to try it at all."
Realising that countless lives could be lost to the disease, the Odones backed clinical trials they hoped would prove that for many sufferers their Oil can prevent the onset of ALD’s fatal symptoms.
Ten years after the trials began in the United States and Europe, the Odones have been vindicated. The US trial was led by Dr Hugo Moser, of the Kennedy Krieger Institute in Baltimore, the US neurologist played in the film by Peter Ustinov.
The childhood form of ALD usually hits boys between the ages of four and ten. The trials tracked the effect of the oil on 105 boys aged six and under who have the ALD gene. At the start, all were symptom -free. Ten years on, 76 per cent of those who regularly received the oil and followed a strict low-fat diet were still healthy, with normal brain scans. Of those who did not take the oil, only 35 per cent were not suffering from symptoms. The trial found that in those who went on to develop symptoms, the onset was delayed by between two and four years if the oil was regularly consumed.
Moser, himself once sceptical of the oil’s effectiveness, says: "It’s not an absolute preventive. It reduces the chances of developing the symptoms, but it does not eliminate the chance. The need to pursue other treatments remains critical."
For Odone, the vindication is bittersweet. "Once the symptoms have started, you are in a different ball park," he says. Although Odone believes it is the oil that has kept Lorenzo alive, his symptoms cannot be reversed. He is quadriplegic, and can barely hear or see. He communicates by blinking his eyelids to say no and wiggling his fingers to say yes. He enjoys being read to and having music played to him at the Washington DC home where his father still cares for him. "I have told Lorenzo the results and that he is at the forefront of medical science, that he is leading the way in saving the lives of so many little boys. I hope he understands."
Odone now runs the Myelin Project, championing research into remyelination - the medical dream of restoring the myelin sheath, which could help sufferers of a number of neurological disorders, including multiple sclerosis.
Today, Odone continues his work with the project, for the love of his late wife and son. "It would have been wonderful for Michaela to share the news about the trials, to know that children’s lives are going to be saved," Odone says. "But then again, she did not need the result of the trials to know that Lorenzo’s Oil works. Michaela and I believed that from the start."