Getting a diagnosis v. learning to live with it? The case of the progressive ataxias

Abstract

Objectives: To examine the perceptions and experiences of the diagnosis process in people with a progressive ataxia, a group of rare complex neurological conditions usually leading to disturbances in balance and speech.

Methods: An explorative qualitative study involving analysis of public accounts posted to specialist Internet discussion forums by people with symptoms of ataxia. Internet data were utilized partly because ataxia is a rare condition.

Results: The main themes that emerged were diagnosis as an arduous process, achieving diagnosis as a privilege, the importance of getting a medical label, being believed with regard to symptoms and ‘idiopathic’ diagnosis as a non-diagnosis. The accounts of people who were not able to secure a definitive diagnosis suggested that their priorities had changed from getting a diagnosis to managing and learning to live with their progressive disabilities.

Conclusions: The diagnosis of the progressive ataxias presents challenges for patients, clinicians and in terms of the extensive use of finite healthcare resources. Our findings suggest there are varied views on the importance of diagnosis to people with progressive ataxia. This warrants further in-depth research to understand how people rate the relative utility of diagnostics.