OBJECTIVES: Friedreich ataxia (FA) is a progressive and systemic neurologic movement disorder characterized by impaired motor function and speech. Although impacts of FA on patient health-related-quality of life (HRQoL) have been documented, generic HRQoL measures can miss key disease-specific impacts, particularly in rare conditions. Qualitative methods can provide unique insights into patient lived experiences, contextualizing the profound impact of clinical manifestations. This study sought to understand patient perspectives on the impact of FA symptoms on daily life and psychosocial wellbeing.

METHODS: Qualitative interviews were conducted among individuals with FA, or caregivers as proxies, living in the US, UK and Germany. Participants responded to open-ended questions about the impact of FA symptoms on day-to-day life, including key challenges and adaptations. Interviews were held virtually, audio-recorded and transcribed. Patient demographic and clinical characteristics were summarized, and conventional content analysis was used to explore patterns in the data.

RESULTS: Sixteen patients and 13 caregivers were interviewed. Mean (standard deviation, SD) patient age was 33 (12.1) years and 62.1% were female. Among 14 (48.3%) non-ambulatory patients, mean (SD) age at loss of ambulation was 24.0 (8.8 years). All 29 participants described impaired motor skills, which leads to doing everyday tasks slowly and with greater effort. Twenty-two participants reported challenges with managing fatigue, creating obstacles to participation. Emotional impacts, including frustration, sadness or worry, were common (n=27). These impacts were often provoked by the progression of symptoms and consequent loss of independence. Despite these challenges, individuals adapt to life with FA by finding ways to maintain participation and social connection, developing coping strategies, and identifying sources of optimism in their daily lives.

CONCLUSIONS: This study augments scarce data to describe the lived experiences of individuals with FA. Findings highlight psychosocial challenges that permeate everyday life with FA, as well as sources of strength and adaptation.