OBJECTIVES: Research on rare diseases from the patient perspective is limited; however, research into the impact on parental caregivers of affected individuals is even more limited. The aim of this study was to gather evidence to explore the impact of caring for an individual with a rare disease.
METHODS: An informal literature review was conducted to identify studies exploring the impact of caring for somebody with a rare disease. Evidence from these studies was used to establish an overview of the impact of living with an individual(s) with a rare disease.
RESULTS: The published studies represented input from caregivers of patients with over 100 rare diseases. Common themes emerged across the disease areas representing multiple domains of quality of life (QoL). Caregivers reported considerable emotional impacts including anxiety, depression and feelings of guilt associated with hereditary diseases. Social impacts for caregivers included reduced social participation, limited social support networks, and affected relationships with partners, other children and family members. Caregivers also reported experiencing limited expert disease knowledge from healthcare professionals. The reduced ability to work was a common area of concern for caregivers as were the financial impacts associated with caring for an individual with a rare disease. Caregivers own physical health is impacted due to the care needs of their child. As well as the direct impact to the caregiver; caregiver burden contributes to the overall cost of an individual’s disease. Estimates within the literature of the monetary impact of caring for an individual with a rare disease ranges up 31% of the total cost of illness.
CONCLUSIONS: Caring for an individual with a rare disease represents considerable personal impact. The associated societal costs contribute to the overall cost of illness. This information is important when considering the benefits of new treatments but also the cost and value of these treatments.
