adapted from Wikipedia and Shankar Vedantam, Washington Post
Augusto and Michaela Odones and their invention - Lorenzo's oil - obtained widespread publicity in 1992 because of the film Lorenzo's Oil, by George Miller.
Lorenzo's oil is used in the preventive treatment of adrenoleukodystrophy (ALD). The oil was formulated by Augusto and Michaela Odone after their son Lorenzo was diagnosed with the disease in 1984, at the age of five. Doctors had predicted he would not live past the age of 8.The film ends with Lorenzo, at the age of 14, showing definite improvement (he can swallow for himself and answer yes or no questions by blinking) but indicating more medical research is still needed. The end credits of the film note that Lorenzo also regained his sight and was learning to use a computer.
This last May (May 30, 2008) Lorenzo died at the age of 30 from aspiration pneumonia, brought about by food becoming stuck in his lungs. Aspiration pneumonia is a common cause of death in patients with severe neurologic disease.
Michaela died in 2000 and Augusto, now 75, has serious health problems of his own.
Augusto received U.S. Patent No. 5,331,009 for the oil. The royalties he now receives are paid to the Myelin Project which he and Michaela founded to further research treatments for ALD and similar disorders.
The Full Story
WASHINGTON – Shortly before his birthday in May, Lorenzo Odone – the inspiration for the 1992 movie “Lorenzo’s Oil” – came down with something. The objective sign something was wrong came from the machines and monitors that surrounded his bed.
But Lorenzo’s father, Augusto, knew something was wrong even without the machines.
For nearly a quarter-century, Augusto had had his son fed through a tube. For more than 20 of those years, Lorenzo had not spoken a word. To casual visitors, Lorenzo seemed completely unresponsive, a victim of the neurological disease that took his voice, hearing and control over his body.
Augusto had watched over his son, first with his wife, Michaela, who died in 2000, and then on his own. Augusto had read thousands of stories to his boy, played hundreds of songs and stroked his hair in the long, dark hours before dawn. Augusto knew something was wrong. He debated whether to call an ambulance.
“I am very suspicious of doctors in general,” he said. “Every time we brought Lorenzo to a hospital, he would get so many other diseases.”
For two days and two nights, Augusto, a 75-year-old man with serious medical problems of his own, hovered by his son’s bedside.But Lorenzo’s vital signs deteriorated and Augusto finally called an ambulance. By the time it arrived, Lorenzo was dead. It was one day after his 30th birthday. The cause of death was ultimately not the neurological disease, but a lung infection, possibly caused by a stray food particle that entered his windpipe. Lorenzo died of aspiration pneumonia.
“I loved him so much, but at the end I screwed up, in the sense I didn’t call the ambulance in time,” Augusto Odone said.
The Beginings
Augusto came to Washington in 1969 to work for the World Bank. In 1978, he and his second wife, Michaela, had Lorenzo. When he was 5, Lorenzo started to sometimes walk into walls and be often irritable.
One day, as Michaela read a story to her son, in bed with a cold, he said: “Mummy, I cannot hear you anymore. Can you raise your voice?”
Hearing specialists said nothing was wrong with his ears and referred him to a neurologist.
“He said, ‘I’m not sure’ – doctors are never sure – ‘but I just read an article about this very rare disease called ALD,’ ” Augusto recalled.
The neurologist suggested Hugo Moser, a neurologist at the Kennedy Krieger Institute in Baltimore who was studying adrenoleukodystrophy, a genetic disorder.
The blood test gave Augusto the empirical evidence he wanted: Lorenzo had ALD. The disease damages the myelin sheaths that house neurons, or nerve cells in the brain. This triggers an autoimmune response that eventually ravages the mind and body. It all had to do, apparently, with long chains of carbon, hydrogen and oxygen atoms known as very long chain fatty acids. The chemical structure of these fatty acids causes them to damage the protective myelin sheath. Moser told Augusto and Michaela that scientists were working on a solution.
Augusto rebelled at the idea that complex science must be left to scientists; he began researching the disease himself. Poring over academic journals in the library in those pre-Internet days, Augusto studied about 200 articles that discussed how fatty acids were metabolized in animals. He found that animals fed olive oil seemed to have lowered levels of very long chain fatty acids. The effect seemed to come from a component of olive oil known as oleic acid. Augusto also learned that another compound, erucic acid, might be helpful in countering very long chain fatty acids. He began toying with the idea of trying to fight ALD by giving Lorenzo a mixture of oils.
He took his discovery to Moser, who promptly shot it down. Research, Moser pointed out, had shown erucic acid was harmful in mice. What sane scientist would test a product found dangerous in mice on humans?
Augusto was offended: “I asked myself, ‘What does Dr. Moser know about erucic acid?’ It was what he had learned from his colleagues.”
Learning from colleagues, of course, is how science is supposed to proceed and why it has built up such an impressive record in the past century. Science is a process of accretion, each step built on the step before. Unusual claims need unusual proof, and Augusto had none.
He immediately consulted Index Medicus, an archive of medical articles, and tracked down what appeared to be the three experts in the world who seemed to know a lot about erucic acid. Two were noncommittal about whether the compound would be dangerous in humans.
But John Kramer, a biochemist in Toronto, said it was an error to think that just because erucic acid was dangerous for mice, it would also be dangerous for people. Augusto asked for proof, and Kramer sent him a book. Augusto learned that erucic acid was not only safe in humans, it also was a derivative of rapeseed, or canola, oil, widely used in Asia.
Augusto asked his wife’s sister to be his first guinea pig. She swallowed Augusto’s concoction – and lived.
Augusto began giving the concoction to his son. He kept meticulous records. In short order, he demonstrated that the compound was curtailing Lorenzo’s levels of very long chain fatty acids.
“One problem with medical research is that doctors think they know everything,” Augusto said. “In fact, they know very little, maybe only 5 percent.”
When Augusto took his results to Moser, the neurologist agreed to conduct a scientific test evaluating the effect of Lorenzo’s oil on boys known to be at high risk for ALD. It took years for the study to unfold, but he and his colleagues eventually showed that the treatment could freeze the disease in its tracks. It was not a cure, meaning it could not reverse neurological damage. The neurological function that Lorenzo had lost was gone for good.
Hugo Moser died last year. Moser’s wife and scientific collaborator, Ann Moser, a research associate in neurology at the Kennedy Krieger Institute, is working on an easy-to-use blood test so ALD children can be started on Lorenzo’s oil and other treatments before they begin deteriorating.
Ann Moser agreed the process was slow. But that method of accumulating evidence produces the kind of rigor that would allow the screening test to be implemented around the world.
Contrary to the movie depiction of Hugo Moser as an uncaring scientist, Augusto developed a close relationship with the Mosers.
