Making rare diseases a public-health and research priority  

On May 30, a 30-year-old man with adrenoleukodystrophy died of pneumonia. Lorenzo Odone was a remarkable individual from a remarkable family. He lived for 24 years after his adrenoleukodystrophy was diagnosed (20 years longer than predicted). His longevity might have been, in part, due to the combination of erucic and oleic acids that were added to his diet by his parents.

Michaela (who had been a publishing editor until her son was born) and Augusto (an economist) refused to accept there was no treatment for their son. By trawling through published hypotheses and research, they con cluded that a 4:1 mixture of glyceryl trioleate and glyceryl trierucate lowers the plasma concentrations of saturated very-longchain fatty acids, which are involved in the demyelination in adrenoleukodystrophy. Lorenzo’s oil, as it became known, was tested in trials led by Lorenzo’s neurologist, Hugo Moser, who worked with his wife, Ann, and other colleagues. The oil, if started early, is now recognised to have some benefi t in preventing the childhood cerebral form of adrenoleukodystrophy.

Adrenoleukodystrophy is an X-linked disorder that affects one in 20 000 males. Were it not for Lorenzo’s story and the persistence of the Odones and the Mosers, this condition would have even more of the hall marks of rare diseases—lack of research, few treatments under development, little funding, no public awareness, and dependence on patients’ groups for advocacy. It is for good reasons that rare diseases are known as health orphans.

However, as the Essay Focus and Comment in this week’s issue describe, there are encouraging signs that rare diseases are being included in public-health plans, and that more research is being directed into fi nding the causes of and treatments for at least some of these conditions. Patients with rare diseases have the right to first-class medical knowledge, rapid diagnosis, research, and treatment. In reality, though, their lives are often blighted by medical ignorance, lack of professional advice, delayed diagnosis, and no treatment options at all. Patients should not have to depend on their families to f nd potential treatments for rare diseases. ■ The Lancet

See Comment page 1978

See Essay Focus page 2039