OBJECTIVES: In FA, a rare neuromuscular disease characterized by impaired motor function and speech, caregiving is typically required. A recent review of caregivers in rare inherited diseases identified gaps in understanding 1) mediators of burden, and 2) how impacts differ between parental and spousal caregivers. We sought to understand caregiver experiences in FA, and how impacts vary by caregiver type.

METHODS: Qualitative interviews were conducted among FA caregivers from the US, UK and Germany, recruited through patient advocacy groups. Participants responded to open-ended questions about the impact of caregiving on daily activities and emotional outlook, including challenges and strategies to mitigate these. Interviews were virtual, audio-recorded and transcribed. Transcript data were analyzed using conventional content analysis.

RESULTS: Mean (standard deviation) caregiver age (n=13) was 43.2 (5.9) years; 76.9% were female and 69.2% cared for patients with symptom onset at <16 years of age. All 13 participants described ‘making space’ for caregiving, which impacts ability to work, socialize, and maintain a healthy lifestyle. Emotional stressors were substantial and demands ever-present; frustration and worry were common. Six caregivers highlighted sources of positivity like increased empathy and strengthening of relationships. Nine caregivers described coping strategies including making time for themselves, mindfulness, and participation in research. Perceived caregiving burden varied based on effectiveness of coping strategies, intensity of demands, availability of external support, and other personal factors. Spousal caregivers (n=7) discussed unique challenges around family planning and intimacy, needing to shoulder more household tasks, or having to consider the impact of premature mortality.

CONCLUSIONS: While the impact of caregiving on emotional health, daily activities, and relationships can be substantial, these can be balanced by sometimes surprising positive aspects. Perceptions of caregiving intensity, which are multifactorial, can vary substantially, and differ between spousal and parental caregivers. These findings augment scarce data on the impact of caregiving in FA.