Presentation

Giovanna Cenacchi

A rare disease, also known as an orphan disease, is a condition that affects a small percentage of the global population. At the European level, a disease or condition is defined as “rare” when it affects fewer than 1 in 2,000 individuals. Over 6,000 rare diseases have been identified, 80% of which are of genetic origin and accompany the affected person throughout their life; even if symptoms may not be present at birth, they are chronic and often reduce life expectancy. In addition to the psychosocial and economic, diagnostic and therapeutic challenges common to other more numerically represented diseases, rare diseases also involve a number of distinct features that group them in a field of their own and which, for patients and specialized healthcare workers, make them difficult to deal with and relegate them to an entirely separate chapter of medicine. Rare diseases are, in fact, bearers of loneliness, discrimination and chronicity. These specific characteristics have led to a scarce presence of specialized and competent doctors and researchers interested in deepening the scientific knowledge that supports – and initiates – research on innovative and personalized therapeutic treatments and orphan drugs; there is also little knowledge of the natural history of these diseases, which leads to uncertainty of prognosis. Finally, taking into account the genetic component opens up the much broader chapter of generativity, inviting an ethical and bioethical point of view as well, which touches upon the very definition of a human being and thus adds another layer of complexity to the picture. Almost all genetic diseases are rare diseases. However, not all rare diseases have a genetic origin; for example, there are very rare infectious diseases, as well as autoimmune diseases and rare carcinomas. The cause of many rare diseases is still unknown today.

These diseases are characterized by a wide diversity of disorders and symptoms, which vary not only from disease to disease, but also from patient to patient with the same condition. Even fairly common symptoms can hide the presence of a rare disease, leading to an incorrect diagnosis.

Rare diseases not only affect patients, but involve their families, friends, caregivers and society as a whole. For most of these diseases, effective treatment is not yet available, but numerous appropriate treatments can improve quality of life and prolong it. In some cases, substantial progress has been made, showing that we must not surrender but, on the contrary, pursue and intensify the work of research and social solidarity. Rare diseases still often go untreated and for this reason are also called “orphan diseases”, also because there is no incentive to invest significant resources into what will be a very limited market. This book is the result of the commitment by experts in the field and describes in a usable way the various challenges inherent in this group of pathologies, albeit at a highly scientific level, that concern a limited number of patients requiring a multidisciplinary, ethical-social and economic health intervention of great impact. Moreover, these pathologies deserve to be brought to the attention of the public so that they are aware and educated about the challenges faced by all affected. The organization of the book therefore brings together different disciplinary approaches, as is particularly evident in the specific and diversifying language usage ranging from the humanities to the social to scientific disciplines, in order to obtain a work that is the comprehensive and multi-faceted read which this important subject matter necessarily requires.