Living with Machado-Joseph disease in a small rural community of the Tagus valley.

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.