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Living with Machado-Joseph disease in a small rural community of the Tagus valley
C Paúl1, I Martín, M do Rosário Silva
1UnIGENe, IBMC, Department of Behavioral Sciences, University of Porto, Portugal. paul@icbas.up.pt
Objectives:
In the context of our national program of predictive testing for Machado-Joseph disease (MJD), we have studied in a small rural community (1) discourses about the illness by individuals at risk and patients, and (2) how individuals at risk and patients plan to cope with the familial illness.
Methods:
We used qualitative methods, beginning with a group interview of individuals at risk, and followed by in-depth interviews (about 1 hour long) of at-risk and affected individuals, in their homes. The latter interviews were subjected to a content analysis.
Results:
The coexistence of two contradictory discourses about MJD (a scientific and a folk one) was found consistently among all individuals. The main metaphor was that of the 'drunkard'. Knowledge about a precise diagnosis of their disease produced relief and hope, because it provided evidence that affected individuals were not drunkards.
Conclusions:
The understanding of beliefs about the disease and its social representation is essential in planning effective genetic and psychological counseling.
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