You are rare, but that’s not enough: The role of patient organisations in understanding rare disease complexity
Based on past research and qualitative surveys of three rare disease patient organisations (POs) in France (Association HPN - Aplasie Médullaire, Association Lupus and Génération 22) and three corresponding POs in Portugal (Associação Portuguesa de Hemofilia, Associação dos Doentes com Lupus and Associação de Pais e Amigos de Portadores do Sìndroma de Rubinstein-Taybi), the authors of a recent article, published in BioSocieties, investigate the role of POs in forging and fostering research on rare diseases. As the notion of rareness developed in response to unmet medical needs for isolated groups of patients, so has the appearance of POs to voice these needs. NORD (National Organization for Rare Disorders), AFM (French association against myopathies) and, subsequently, EURORDIS (European Organisation on Rare Diseases) were instrumental in developing PO activism across the United States and Europe, respectively.
While POs have increased in numbers, some have grown concerned that too much attention is given to what the authors refer to as ’politics of numbers’ in rare diseases. ’Politics of numbers’ may be one criterion for disease rareness, but numbers alone do not take into account disease specificity and burden. POs’ primary concern is to reach accurate diagnoses and understand rare disease complexity. Rareness can result from under-diagnosis and activists realise that patient narratives and knowledge on diseases are more important than numbers alone to gain attention. Rabeharisoa et al. suggest that the level of POs’ understanding of rare diseases will influence their authority to engage with research communities and initiate clinical investigations. AFM activism illustrates how patients and experts succeeded in focusing researcher and clinician attention on myopathies. The authors highlight that, unless POs move first to draw the attention of specialists to their specific needs, researchers might not privilege such areas of investigation.
The survey of the six French and Portuguese POs suggests that combining patient registries, clinical disease profiles, centres of reference for diagnosis and care, and PO and expert networks is essential to develop comprehensive rare disease treatment. Rabeharisoa et al. propose that research based on these associated criteria - in what they call ’politics of singularisation’ - is economically appealing and attracts support from the industry. The French association (Association HPN - Aplasie Médullaire) on paroxysmal nocturnal haemoglobinuria (PNH) illustrates the benefits of disease and patient singularisation. The PO’s patient registry of young adults suffering from both PNH and bone marrow depression allowed Saint-Louis Hospital to conduct therapeutic research based on a strong understanding of the compound disease. Thanks to this tailored approach, a drug was marketed within five years of screening for molecules. Despite ’politics of numbers’ still dominating the rare disease scene, the authors support the notion that, by drawing on differences and similarities between rare disease patients, ’politics of singularisation’ facilitates the design of multi-disciplinary regimens tailored to the needs of specific patient pools.
Consult the abstract