RARE DISEASES IN OSTEOLOGY: ROLE OF THE PRACTITIONER, THE RESEARCHER, AND THE "DECISION MAKER" OF HEALTH POLICIES.

Abstract

Diseases which are named rare, or uncommon, are those whose knowledge is usually incomplete, in which diagnosis is troublesome and delayed, treatments are scarce or difficult to afford, and the social insertion of the affected is not well supported. For such reasons, the patient is in an unfavorable condition compared with those suffering from prevalent diseases. Among the medical osteopathies, apart from osteoporosis, urolithiasis or other nutritional mineral disorders, most of the other clinical pictures may be considered as rare. The practitioner is the one responsible for the early detection of the cases, a critical determinant on the future quality of life for most of these patients. Hence, resources and dedication should be claimed. He must learn to listen to individuals, and to approach the problem in multi multinational teams. Currently, information on the long-term follow-up of these patients is under-reported. Science and technology projects should not be tapered, or poorly controlled. The subjects affected by rare diseases demand at least one pivotal randomized controlled trial per disease, per treatment schedule. R&D projects should be connected, from the lab to industrial production of orphan goods, including quality of life endpoints. Ethical committees must particularly consider the special vulnerability given by the minority status. Health "decision makers" should fit the priorities and funds in policies, including education and research acts, promoting cooperation (rare diseases can not be intra-national issues) and high quality programs. Hospital Centers, as well as orphan goods availabilities, and social support programs, should be planned at the main urban sites. Decisions involving rare conditions should be made in agreement between government, academy, industry and organizations, because otherwise the program will likely not work at all. Hence, the problem of rare osteological diseases, as in other specialties, can be solved only by the individual and collective will to do it.