Exploring US patient and caregiver perspectives on burden associated with Friedreich Ataxia

Friedreich ataxia (FA) is a hereditary degenerative disease with clinical manifestations in multiple organs characterized by progressive gait and limb ataxia. Qualitative interviews were conducted with patients and caregivers to characterize the burden experienced related to FA symptoms and impacts.

A sample of 20 FA patients and 11 caregivers were recruited from the Friedreich Ataxia Research Alliance (FARA) registry and FA Facebook communities. Individual qualitative interviews were conducted via telephone by trained qualitative research interviewers to last no more than 45 min. Audio files were transcribed and coded to group concepts by similarity of theme or concept using ATLAS.ti software.

The 20 patients interviewed ranged from 22 to 36 years of age (mean 28.45), 75% were female and seven (35%) were still working full-time. The participants interviewed required an average of 55.5 h per week of assistance from a caregiver. The most frequently reported symptoms were neurological including impaired speech (n = 14; 70%), loss of balance (n = 10; 50%) and decreased muscle coordination (n = 8; 40%). Negative impacts of symptoms included limited function in activities of daily living such as walking (n=15; 75%), dressing (n=11; 55%), limited social activities (n=11; 55%), personal care and hygiene (n=8; 40%), and falls (n=6; 30%). Additionally, 91% of caregivers reported observing falls, and 73% reported issues with patient personal care and hygiene. Patients rated their symptom bothersomeness at 6.7, impact of FA on their ability to live their daily lives at 7.1, and their financial burden due to FA at 6.5, all on a 9-point scale where higher scores indicate worse outcomes.

Results show that from both the patient and caregiver perspective living with FA is highly burdensome for patients, negatively impacting their daily lives, and limiting their ability to lead a functional life, in areas like mobility, self-care, and productivity.