Medical decisions in rare diseases: from their statistical definition to their social understanding

Abstract

The following article is a theoretical work on medical decisions in the case of rare diseases. A medical decision is a process that guides the production of a health diagnosis or treatment, using the available information and evidence, where the preferences of the patients are often incorporated. In the case of common or frequent illnesses, patients usually have clear and available information on the different alternatives to a health problem. In the case of rare diseases, which are statistically defined as those pathologies with a prevalence of less than 1:2000, usually there are no such alternatives. Due to the chronicity and severity that these types of pathologies have, the absence of possibilities becomes a problem that has health and social dimensions. In this sense, the article below proposes a transition from a statistical definition of diseases to a social definition that allows future research to learn about and deepen the health, psychological and social processes and effects on rare diseases and their condition.