Objective: We sought to describe out-of-pocket expenditures and time costs for families/caregivers of patients with SMA1, as well as health care resource use. Here, we present initial data reflecting caregiver burden in the United Kingdom (UK).
Background: SMA1, a rare, genetic neuromuscular disease that causes loss of both voluntary motor and bulbar functions, is usually fatal by 2 years of age if untreated. Data on caregiver burden associated with SMA1 are sparse.
Methods: An online survey was disseminated in the UK by an external recruitment company through patient associations and social media from 08/27/2021 through 10/20/2021. Eligible respondents were voluntary adult caregivers (non–health care professionals).
Results: Twenty-three caregivers (mean age, 35.1 years) managing 25 patients with SMA1 responded. In 17/25 (68%) cases, the patient’s mother was primary or co-primary caregiver. Mean patient care time was 102.4 hours/week. Of the 25 patients, 12 (48%) had a caregiver who stopped working to provide care; five (20%) had a caregiver who reduced their working hours (mean reduction, 16.6 hours/week); three (12%) had a caregiver who changed jobs. Within the last 6 months, 11 patients had a caregiver who took days off from work for caregiving (mean, 14.2 days). Impact on net income was reported by caregivers of 19 (76%) patients (mean monthly reduction, £1012.60). Mean out-of-pocket costs over the last 6 months were £7565.40 (median, £3100.00), of which 14.5% went toward home adaptations and 9.2% toward travel to medical appointments. Caregivers reported feeding support, physical therapy, and cough assist as their most time-consuming activities.
Conclusions: Caregivers of UK patients with SMA1 reported a substantial burden on their time, employment status, income, and out-of-pocket costs. Lost productivity associated with SMA1 imposes greater direct and indirect societal burdens. Early SMA identification via newborn screening with early access to disease-modifying treatments may reduce these burdens.