Lorenzo Odone was only five years old when his parents noticed that he kept bumping into the furniture. A horrifying diagnosis followed: Lorenzo had a rare, incurable genetic disorder that affects only boys, known as adrenoleukodystrophy (ALD). He would lose all his bodily functions and die within two to three years. If you've seen the 1992 Hollywood film Lorenzo's Oil, you'll know what happened next.
The Odones, neither of whom had medical training, were not going to sit around and watch their son deteriorate. "We were not prepared to believe that there wasn't a cure," says Augusto Odone. So they set out to find one, ignoring doctors who said the literature would be too "complex" for them to understand. The result was, says Odone "a case of man bites dog": after two years immersed in medical texts and journals, badgering specialists across the globe and wrestling with neurogenetic theories, they discovered a blend of plant oils that they believed would delay their son's disease. On May 29 this year, Lorenzo, now severely disabled, turned 24.
To say there has been scepticism among doctors, scientists and support groups about the efficacy of "Lorenzo's Oil" would be an understatement. They scoffed at the idea that an oil invented by novices could halt the disease. They put the boy's survival down to a combination of superlative care and luck. Parents of ALD boys who found that the oil did not save their sons accused the family of offering false hope. But now the Odones, who have been called anything from quacks to prophets, finally seem to have been vindicated. A clinical trial of the oil led by a world authority on ALD has just been published. It shows that Lorenzo's oil works.
Dr Hugo Moser, a leading expert in ALD and director of neurogenetics at Baltimore's Kennedy Krieger Institute conducted the 10-year-long trial, set partly in the US and partly in Europe. It followed 104 boys with the ALD gene, all less than six years old and symptom-free when the trial began. The results were dramatic: the boys 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. As Moser puts it, Lorenzo's oil may not be "an absolute preventive" but it certainly "reduces the chances of developing the symptoms".
The oil is a combination of two fats extracted from olive oil and rapeseed oil. It works, it is thought, because of the way it affects the "very long chain fatty acids" in the boys' bodies. In boys with ALD, the enzyme that breaks down these fatty acids is impaired. They can't properly metabolise these acids, which then build up and begin to damage the central nervous system. Specifically, they destroy myelin - the white matter that insulates the nerves and allows impulses to be conducted from one part of the body to another. This is why some of the early signs of ALD include memory loss, emotional instability, difficulty with vision, hearing and motor function. This devastating process of gradual brain damage is known by specialists as demyelination. Usually, boys who have the childhood form of ALD will be bedridden, blind and unable to swallow by the age of 10. They will die soon after.
Sadly, Michaela Odone is not here to see these results. Having given up work, social life, entertaining and all other interests to care for her son, she died of cancer in June 2000. Augusto Odone, though, sounds matter-of-fact about their public vindication. "For me, this isn't ground-breaking," he says. "I already knew it worked." He describes how, at the end of the film about his family, there is a shot of some young boys "jumping up and down". These are all boys with the ALD gene "I knew those children," Odone tells me, "I put them on Lorenzo's oil. I have followed those children as they are growing up. None that I know of have got the disease".
That the oil came too late to stop his son from developing the symptoms must be hard to bear. Lorenzo lost most of his bodily functions and has been bedridden for 18 years. His mind, however, is "still there" - his father says he communicates by blinking and raising his fingers; he loves music, and being read to. "If I'd invented Lorenzo's oil two years before, it would have been different. Most probably he would not have got the disease," says Odone. "Still, it will save the lives of many children who are destined to have the childhood form of ALD".
Until now, the main treatment for childhood ALD has been a bone marrow transplant. Many specialists believe this still offers the best hope of survival. Some are saying that the trial only proves that Lorenzo's oil delays the symptoms and none are saying that Lorenzo's oil should now be used to the exclusion of all other treatments. Moser's trial was, after all, relatively small, and for obvious ethical reasons there could be no placebo group. None the less, says Dr Ian Duncan, professor of neurology at the University of Wisconsin, the consensus among specialists is that "this is an extremely important finding". Most, he says, now "acknowledge that this therapy can work". Moser, who was a doubter in the beginning is now recommending that every presymptomatic boy with ALD is given it.
It's not yet clear what will happen to the boys who have taken the oil and reached the age of 10 (by which time the disease has normally shown itself) without symptoms. ALD comes in two main forms - Lorenzo's kind and an adult type, which shows up in the late teens or early 20s and acts more slowly ("you can," says Duncan, "live for long periods" with the adult form). The boys studied are still teenagers, so nobody knows yet whether they will develop the adult type. Indeed, says Duncan, we don't even know whether these boys will be at a higher risk of developing the adult form of the disease.
Sadly, for the boys who did develop symptoms, there is still no cure (though Odone certainly believes the oil has played a part in his son's survival this far). In a message to parents of boys with ALD, Odone told the New Scientist: "Give the oil as soon as you know your son carries the genetic defect. If you wait, the symptoms might come and then you are in a different ballpark." Duncan, who specialises in "re-myelination" in childhood disorders, confirms this: "The oil does not promote myelin regeneration." This, for Odone, is the next challenge.
'What I want to do," he tells me, "is to restore functions in Lorenzo." He now runs an organisation called the Myelin Project which funds research that will "increase the odds that a way will be found to bring back myelin". If this were to happen, the implications would go far beyond ALD boys. Several other diseases destroy myelin - multiple sclerosis (MS) is perhaps the best known. About 85,000 people in the UK suffer from MS, and the Myelin Project estimates that "demyelinating" diseases affect about a million people in industrialised countries alone.
The Myelin Project is currently financing Yale University doctors to do pioneering surgery that will see whether it is possible to rebuild myelin. Three MS patients so far have had myelin producing cells taken from their ankles and transplanted into the right frontal lobe of the brain. This, Duncan explains, will eventually show whether you can "promote the brain to repair itself".
It is too early to tell whether these cell transplants will work - whether they will multiply so that the patient begins to regain lost bodily functions. But for many people who hope desperately for a cure for diseases like ALD and MS, the very fact that such experiments are under way is positive. "The drive and determination behind the Myelin Project is our best and brightest hope for the future," says Diana McGovern, who has multiple sclerosis, and is honorary secretary of the British Trust for the Myelin Project. Odone is certainly a tireless ally to have. His favourite aphorisms are "Fortune favours the brave" and "You never know until you try." He will, he says, repeat these to the doctors he works with until the Myelin Project has put itself out of business.
· The Myelin Project is at www.myelin.org To contact the British Trust for the Myelin Project, call 0131 339 8424.