He Defied The Doctors Until Death Defied Him

Augusto Odone Did Not Beat The Disease That Took His Son's Life. But With 'Lorenzo's Oil,' He Made His Mark.

Shortly before his birthday in May, Lorenzo Odone -- the inspiration for the 1992 movie "Lorenzo's Oil" -- came down with something. The objective sign that something was wrong came from the machines and monitors that surrounded his bed in Fairfax.

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 terrible neurological disease that robbed him of his voice and hearing, and control over his body.

For that same length of time, 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. In the bond between father and son -- a bond composed of an indeterminate ratio of intimate knowledge and imagination -- Augusto knew something was wrong. He debated whether to call an ambulance and take Lorenzo to the hospital.

"I am very suspicious of doctors in general," he said, explaining why he did not call an ambulance immediately. "Every time we brought Lorenzo to a hospital, he would get so many other diseases."

It was a way of thinking that had characterized Augusto's entire battle against his son's disorder. From the start, for better and worse, Augusto and his wife had always marched to their own drummer. Call them stubborn, but if Lorenzo was still alive at 30, it was only because his parents had often rejected sober medical advice.

For two days and two nights, Augusto sat by his boy, reading his favorite stories and playing his favorite music. He hovered by his son's bedside, a 75-year-old man with serious medical problems of his own.

But Lorenzo's vital signs deteriorated further. Augusto finally gave in and 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 that had claimed so much of his life, but an infection of the lung, 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, his voice breaking.

Friends and well-wishers urged Augusto not to beat up on himself: When Lorenzo was a small boy, a neurologist predicted he would die within two years. That he had lived to 30 was an astounding achievement, the result of his parents' determination to give Lorenzo the best life his disease would allow. Whether or not Lorenzo was really able to hear and understand what was being said to him, for years the family had a former teacher of Lorenzo's visit him every week to read aloud letters sent to him from children all over the world who had seen "Lorenzo's Oil." Whenever the weather allowed, Augusto would take Lorenzo out into the sunshine. Nurses attended to Lorenzo 24 hours a day. In every way possible, Augusto ministered to his son, taking as reward minute signs of brightness in his son's eyes, or a flicker across his face.

Augusto's actions stemmed from extraordinary love, but there was also something more.

For more than a quarter-century, Augusto Odone has taken particular pride in proving doctors wrong.

'I Cannot Hear You Anymore'

Augusto Odone came to Washington in 1969 to work for the World Bank. In 1978, Augusto and his second wife, Michaela, had a child they named Lorenzo. The World Bank posted Augusto to the Comoro Islands, off the east coast of Africa, and the family loved it. At age 3, Lorenzo instantly picked up French, one of the languages spoken there.

The Odones moved back to the Washington area when Lorenzo was 5, and the transition proved difficult. Lorenzo missed Africa. Augusto and Michaela put down some of the behavioral problems they were seeing in their boy to their relocation: Lorenzo was sometimes walking into walls and was often irritable.

One day, as Michaela was reading a story to her son -- the boy was in bed with a cold -- Lorenzo said: "Mummy, I cannot hear you anymore. Can you raise your voice?"

The parents rushed Lorenzo to hearing specialists. They said nothing was wrong with his ears. They 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.

Augusto's first reaction was skepticism. Was there a test for this disease? The neurologist suggested the Odones visit Hugo Moser, a neurologist at the Kennedy Krieger Institute in Baltimore who was studying ALD (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 some 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 your colleagues, of course, is exactly how science is supposed to proceed and precisely why it has built up such an impressive record in the past century. Science is largely a process of accretion, each step built on the step before. Leaps of intuition are frowned upon because most leaps land you in trouble. Unusual claims need unusual proof, and Augusto had no proof at all.

Trusting one's peers was also a bedrock rule of science. Since no individual can be expected to know everything, a neurologist such as Moser had to trust what another scientist had discovered about erucic acid. That trust was based on the assumption that the other scientist was following the same set of principles: observation, hypothesis generation and careful experimentation.

Augusto Odone did not have the time for such deliberation. Lorenzo was dying. 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.

On his third try, Augusto struck gold. John K.G. Kramer, a biochemist in Toronto, told Augusto that 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. Kramer offered to send him a book. Augusto paid $60 and had it shipped from Canada. When it arrived, Augusto learned that erucic acid was not only safe in humans, but it also was a derivative of rapeseed, or canola, oil, widely used in Asia as a cooking oil.

Augusto asked a family member (his wife's sister) to be his first guinea pig. She swallowed the concoction Augusto had devised -- and lived.

A scientist would have said the experience of a single person was an anecdote, not data: "In Italy, we have a saying, 'One swallow does not make spring.' For lack of anything else, we trusted that swallow," Augusto said.

Augusto began giving the concoction to his son. He kept meticulous records. In short order, he demonstrated that the compound was indeed 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."

Waves of Confusion

When Augusto took his results back to Moser, the neurologist agreed to conduct a test: a scientific test, which involved evaluating the effect of Lorenzo's oil on boys known to be at high risk for ALD. The study did not hold much interest for Augusto, because he thought it would tell him only what he already knew. From the point of view of science, the experience of a single child said very little. Augusto's claims about the efficacy of Lorenzo's oil, moreover, had set off waves of hope and confusion among other parents with children who had ALD. Moser said that many families became upset when they experimented themselves and failed to see improvements in their children.

It took years for the study to unfold because Moser had to follow children for a long period of time. Moser 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 that had already taken place. The neurological function that Lorenzo had lost was gone for good.

Moser published his work in a peer-reviewed journal; it was now the kind of careful research that scientists anywhere could rely on.

In Fairfax, Augusto had turned his attention to other ideas. He wanted to do more than stop the disease in its tracks; he wanted to find a cure. But reversing neurological damage turned out to be much harder than finding a way to stop the damage.

Hugo Moser died last year, as Lorenzo was approaching age 29. 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 that ALD children can be started on Lorenzo's oil and other treatments before they begin going downhill.

Like many other aspects of science, the development of the test is proceeding slowly: Some might argue that a test for ALD should be immediately included in the national screening program. After all, ALD strikes about 1 in 10,000 children, which means babies are being born right now who are going to get the disease. In the absence of a routine test for newborns, these children might go on to develop ALD symptoms before their parents and doctors recognize what is happening.

Ann Moser agreed the process was slow. But that method of accumulating evidence, and verifying each step before moving to the next, produces the kind of rigor that would allow the screening test to be implemented around the world.

Augusto said he had no problem with empirical research: Contrary to the depiction of Hugo Moser as an uncaring scientist in "Lorenzo's Oil," Augusto came to develop close and interdependent relationships with Hugo and Ann Moser. But Augusto did think that in general scientists and doctors were too conservative and that they often worried more about the censure of their peers than about the well-being of individual patients.

Much of medicine, Augusto went on, was not about empirical evidence, anyhow. He had had a problem with phlegm. He went to several doctors. Out of the blue, he said, one doctor said it might be an allergy and suggested some over-the-counter Benadryl.

"I took the pill last night, and the phlegm is gone," Augusto said. "Now, he thought there might be a connection. There was no empirical evidence. If you asked him what the mechanism of action might be, he would say, 'I don't know, just try it.' "

"If you want to have proof for everything, in the end you end up being silly," he said. "It is a good thing to question, but after a certain point, it becomes unwise."

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