Friedreich’s ataxia places heavy daily burden on patients, caregivers: Study
Disease impacts their lives physically. emotionally, socially, and financially
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Friedreich’s ataxia (FA) places a substantial burden on both patients and caregivers, impacting physical, emotional, social, and financial aspects of their lives, a U.S. study found.
Patients, who needed about 55 hours of caregiver support each week, reported a significant impact of the disease on their mobility, self-care, work productivity, and quality of life. Caregivers, most often mothers working full-time, described major impacts on their emotional health, social lives, employment, and finances.
“Awareness of this burden may assist with the identification of unmet needs and support the patient through improved care pathways,” researchers wrote. ”Continued treatment evolution and expanded support to FA patients and their caregivers are important to reducing the burden of FA.”
The study, “Exploring US patient and caregiver perspectives on burden associated with Friedreich Ataxia,” was published in the Journal of Patient-Reported Outcomes. It was funded by Biogen, which markets the FA therapy Skyclarys (omaveloxolone).
Researchers interviewed patients, caregivers
FA is caused by mutations in the FXN gene that result in abnormally low levels of frataxin, impairing the function of mitochondria, the cell’s energy production centers. This leads to damage to nerve and muscle cells, resulting in symptoms such as coordination and balance difficulties (ataxia) and neurological problems.
To characterize the burden associated with FA symptoms and their impact on patients and caregivers, researchers conducted a study using interviews and objective measures.
The study enrolled 20 adults with FA and 11 caregivers in the U.S., recruited from the Friedreich’s Ataxia Research Alliance registry and FA Facebook communities. Patients had an average age of 28.5 years and were mainly women (75%). Less than one-third were working full-time, 20% worked part-time, and 30% were disabled. Caregivers had a median age of about 50 years.
Patients were diagnosed with FA at a mean age of 15.2 years, after experiencing symptoms such as clumsiness or loss of balance. In most cases, the diagnosis was made by a neurologist.
“I’ve always been clumsy, but it was more pronounced… [when] you close your eyes and stand up… I don’t think I can do that without closing onto something. So that prompted me to actually go to a neurologist,” a patient said.
‘I … feel like every time that I move, I have to deal with the FA symptoms’
Overall, caregivers described more symptoms than patients (33 vs. 22). The most frequently reported symptoms by patients were impaired speech, coordination and balance issues, cardiovascular and hormone-related problems, scoliosis (a sideways curvature of the spine), and fatigue. A higher symptom burden reported by patients was associated with a younger age at diagnosis.
Both patients and caregivers reported 64 impacts they attributed to FA, across nine subdomains, including difficulties with daily activities such as personal care, preparing food, walking, attending school or work, and social life. On a scale of 1 (no impact) to 9 (extremely high impact), patients rated the impact at a mean of 7.1 and caregivers at a mean of 5.8.
“I just feel like every time that I move, I have to deal with the FA symptoms… I have to think about my movement,” a woman with FA said.
Caregivers also experienced impacts related to their caregiving responsibilities, particularly in areas of emotional health, social life, and employment. While most were working full-time, they spent an average of 55.5 hours per week providing care.
Patients rated their financial burden at 6.5 due to the inability to work and the costs associated with medical care and adaptive devices. Some caregivers also reported high financial burden related to costs and time off work to care for their child with FA. Both patients and caregivers often described difficulties with insurance coverage.
[Findings 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.
All patients completed the EQ-5D-3L survey to assess health-related quality of life and the Friedreich’s Ataxia – Activities of Daily Living (FA-ADL) questionnaire to measure the impact on activities of daily living. Both patients and caregivers completed the Work Productivity and Activity Impairment – Specific Health Problems (WPAI-SHP) questionnaire about the impact of caregiving on work and activities.
On average, patients rated their current health-related quality of life at 61.7 (range 0 to 100, where 0 indicates worse outcomes), which is lower than the general U.S. population score of 80, the team noted. FA-ADL results revealed a greater impact due to falls, difficulty walking, and problems with cutting food.
WPAI-SHP results showed that most employed patients did not miss work in the past week due to their FA or other reasons. Those who missed work reported missing an average of 3.4 hours due to FA-related health problems and 2.6 hours for other reasons in the previous week. Most caregivers reported not missing work in the past week due to caring for the person with FA.
On a scale of 0 to 10, patients rated FA’s impact on their productivity at work at 3.8 and the disease’s impact on their daily activities at 4. Caregivers rated the impact on work productivity and on other activities slightly higher at 4.3 and 5.2, respectively.
Overall, these findings 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,” the researchers wrote.
