Background Growing efforts are made to improve the situation of persons with rare diseases, but the specific nature of these disorders remains unclear.
The category of 'rare diseases' has been in growing use in the fields of public health and patient advocacy for the past 15 years in Europe. In this socio-historical inquiry, I argue that this category, which appeared initially as a by-product of the orphan drug issue in the United States of America is a boundary object. As such, it has different specific local uses: a meaningless category for physicians, it relates to the patients' experience of illness, whereas the pharmaceutical industry first considered it as being synonymous with small markets and then with innovation. Public bodies contributed to framing a common and blurred use, based on a statistical definition whose purpose was to foster co-operation between the four groups involved in the issue. In the definition process of the category of rare diseases, the key actors were the patients and public bodies, not medical professionals or the pharmaceutical industry.
The inner structure of so-called 'patients' organisations' has been accorded relatively little attention with respect to their increasing role in the medical world. This comparative study in France of eight such organisations, matching six rare disorders, explores the issue of power and decision making through the description of the entities that make up the organisation (and especially which stakeholders are represented), their mutual relationships, the temporal scope of collective action, and the concrete achievements of the organisation. Two main types of organisation are distinguished: 'pluralistic' organisations (that bring together a broad array of different stakeholders who are willing to work together) and 'monistic' organisations (where a single category of stakeholders firmly takes the lead). Their operations are very different and result from the association's composition. A key finding is that both the usual opposition between lay and expert and the reference to the diseases' characteristics prove to be irrelevant to understanding these organisations. Rather, the composition of the leading group is crucial.
Drawing on a sample of 11 interviews in France with adults affected by cystic fibrosis, and applying grounded-theory analysis, I describe illness-related learning processes in the case of persons affected by a genetic disorder with early onset. Three outcomes might be of interest to health professionals. First, the diagnosis of genetic disease does not imply that the patients consider themselves to be ill. The meaning of being affected by a genetic disorder has to be understood. Second, these patients gain a particular knowledge of their illness that helps them undertake or avoid certain actions to achieve goals they consider important, through a process I call "critical internalization." Third, these patients exhibit similarities with Freidson's classical medical practitioner's clinical mind, although health is not at all their main priority.
Medication adherence is a major issue for patients with a chronic illness, who sometimes rationally choose temporary nonadherence. This study aims at better understanding intentional nonadherence and especially why it seems to fluctuate over time. It is based on 48 semi-structured interviews conducted in a hospital in the Netherlands with patients who had been prescribed a medication for a chronic disease for at least 1 year, and who had either type 2 diabetes, hypertension, Parkinson's disease, inflammatory bowel disease, or chronic myeloid leukemia. The analysis uses a simplified version of the failure modes and effects analysis (FMEA) method. Intentional nonadherence appeared to be the result of the respondents' desire (a) to exert control over the treatment and its effects on their body, and (b) to control the hold of the treatment on their daily life. This result provides a rationale for the fluctuation of intentional nonadherence behavior.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.