Adopting an orphan

Abstract

The spectrum of ailments that haunt mankind is depressingly vast. Major chronic and infectious diseases, such as malaria, AIDS, cardiovascular diseases and cancer, claim millions of lives every year, and exact a heavy toll in both the developed and the developing world. These big killers, however, do not have a monopoly on pain, suffering and death—diseases that affect comparatively few people can have the same result. According to the World Health Organization, some 5,000 such rare disorders exist. Other estimates push the number up to 8,000, depending on the specific classification criteria used. In Europe, a rare disease is defined as one that affects one person in 2,000, whereas in the USA and Japan, the definition of a rare disease is one that afflicts fewer than 200,000 and 50,000 patients, respectively. > Due to their relatively low prevalence, rare diseases as a whole have traditionally been neglected by large parts of the scientific, medical and political communities Regardless of the precise definition, rare diseases are a serious problem for human and public health. Although each case involves a relatively small number of individuals—from just ten to hundreds of thousands—together, rare diseases affect a major subsection of the population in developed countries, including 25 million US residents and about 6%–8% of the population of the European Union (EU), equivalent to 24–36 million people. But it was not until the early 1980s that various countries, the first being the USA, introduced legislation and incentives to make the development of drugs for rare diseases more attractive for pharmaceutical companies. These have been a major success, and have led to the approval of hundreds of new drugs, but they have not been without criticism. Whereas some critics decry the often extremely high costs of these drugs, patient advocacy groups push for a wider awareness of …