Qualitative analysis of the social and family impact of human transmissible spongiform encephalopathies
Introduction. Human transmissible spongiform encephalopathies are pathologies related to the misfolding of the cellular prion protein. When these diseases manifest, they are characterized by a rapid and invariably fatal neurodegeneration.
Aim. To gain insight on the social, personal and family reality of the people in close contact with these disorders.
Patients and methods. Qualitative interviews were conducted online through semi-structured questionnaires open to carriers and first-degree relatives of those affected. The information was anonymous and the responses were requested to be broad.
Results. The sample consisted on 47 interviewees, seven confirmed carriers and 40 relatives that might be carriers or not. The majority of the informants were women aged between 30 and 50. The discourse analysis focused on their perception of the disease, time to diagnosis, and their uncertainties/needs allowed establishing four semantic fields: suffering/loss, temporality, medical/clinical and daily life. However, other important elements were also found. Only eight relatives considered necessary to increase research efforts. Relatives also presented a higher rate of uncertainty, while confirmed carriers did not show such uncertainty about their future.
Conclusions. Socio-biomedical studies related to prion pathologies are rare. In this work, our knowledge on the social reality of the affected people and their close relatives is extended. These pathologies lead those in close contact with them to extremely complicated social situations with utmost psychosocial management difficulties.
Key words. Human experience. Narratives. Neurodegeneration. Prions. Social reality. Socio-biomedicine.