When was lorenzos oil discovered

The oil brings these levels back down to normal in a way that can be tested, and this enabled the researchers to monitor which boys were getting the treatment on a regular basis. Between and two teams, one led by Moser at the Kennedy Krieger Institute in Baltimore, Maryland, the other based in Europe, looked at the progress of young boys with the defect.

At the outset all were under six years of age and none had begun to develop symptoms — their movement, hearing and MRI brain scans were normal. By the end of the study 76 per cent of the 68 boys getting the oil were still healthy and producing normal brain MRI scans. The same was true of no more than about one in three of the 36 boys who did not regularly get the oil.

The big remaining uncertainty is whether those boys in the study who have escaped the childhood version of the disease will also be spared the adult form.

With many of the boys only just approaching their twenties this may not be known for years. If you wait the symptoms might come and then you are in a different ballpark. We are not sure the oil is useful after symptoms have developed.

The results will be presented at an international meeting at the University of Ghent. Moser, himself once a sceptic, will tell the conference that the oil should now be routinely given to boys carrying the genetic defect. The oil works by blocking the enzymes required to synthesise the very long chain fatty acids, but how this prevents the devastating symptoms is uncertain. These are caused by the progressive loss of myelin, the fatty sheath that insulates nerve fibres, enabling them to conduct impulses properly.

Racing against the clock, Odone and his wife pestered scientists, devoured neurology textbooks and learned the language of biochemistry. But from the outset, Lorenzo seemed unsettled and unhappy in his new surroundings. Michaela worried about teachers' reports that commented on her son's short attention span and moodiness.

Then one evening, as she sat reading to him, Lorenzo asked her to speak up. Alarmed, she immediately took him for a hearing test. The consultant found the hearing normal, but after studying Lorenzo closely, feared a neurological cause for his difficulties. He ordered a battery of tests, which led to a devastating diagnosis: ALD. A rare genetic disorder, carried by the mother and affecting only boys between the ages of four and eight, it robs its victims of their sight, hearing and ability to swallow and walk before finally killing them - typically, within 24 months.

Michaela and Augusto listened as the doctors explained that there was nothing to do but let the disease take its course. Lorenzo's nervous system was under assault from long chain fatty acids. These were accumulating and damaging his myelin, the white matter that coats nerve endings and allows smooth transmission of messages to and from the brain.

The parents listened - and then rebelled. They refused to go home and watch their beloved son slowly die. Instead, despite having only the equivalent of a science A-level between them, they began a round-the-clock rota at the US National Institute of Health Library, a few minutes from their home in the Washington suburb of Chevy Chase.

Within a year, after poring over experiments and theories in medical journals, Augusto realised that a combination of erucic and oleic acids would stop the production of the long chain fatty acids in Lorenzo's system. The Odones called the cocktail of acids Lorenzo's oil, and Croda Universal, a British firm in Hull, began its manufacture. Once the oil became part of Lorenzo's diet, his condition stabilised.

The extraordinary tale of two lay people discovering a therapy that had eluded the scientific community quickly spread. Media interest, and a contract with Universal Pictures to turn their life story into a film, allowed the Odones to set up a foundation, the Myelin Project, which is today active in the US, Canada, Britain, Germany and Italy. The aim was to accelerate research into the de-myelinating diseases - such as ALD and the more prevalent multiple sclerosis MS - to restore Lorenzo's faculties as quickly as possible.

Michaela and Augusto had managed to arrest the progress of the disease, but Lorenzo was still bed-bound and unable to move, hear, see or swallow. To give a greater sense of urgency, the Myelin Project organised regular international conferences, where scientists met families of those afflicted by de-myelination.

Not all members of the scientific community welcomed this approach; or, indeed, their portrayal on film as hard-hearted and arrogant. A backlash against the Odones saw various researchers from around the world denying the efficacy of Lorenzo's oil, and most doctors refused to prescribe it. In , however, the world's top authority on ALD, the late Dr Hugo Moser, published the findings of a year study which showed that a statistically lower incidence of ALD occurred in those boys whose diet included Lorenzo's oil.

The vindication came too late for Lorenzo's mother, who died of lung cancer in But Augusto, aided by Oumouri Hassane, a family friend from the Comoros who had become Lorenzo's chief carer, continued to keep his son at home.