A study conducted by the NOVA National School of Public Health (NOVA NSPH), in collaboration with RD-Portugal – Union of Associations of Rare Diseases in Portugal, reveals that 68% of informal caregivers of people with rare diseases experience pain or discomfort, and 72% report symptoms of anxiety or depression. More than half experience moderate to high levels of caregiver burden, which affects their physical, psychological and emotional well-being.
The research involved 116 caregivers, mostly women (85%) and predominantly mothers and fathers (88%), with an average age of 46 years. Although nearly half have higher education, 16% are unemployed and 12% are retired, a direct consequence of full-time caregiving responsibilities. Most dedicate more than six hours per day to caregiving, and in 40% of cases, this routine has persisted for more than ten years.
Another relevant finding concerns the lack of formal training: 81% of caregivers have never received specific preparation, although 96% report feeling confident in their caregiving role. However, confidence does not compensate for the lack of support, with 31% reporting that they receive no institutional assistance and only 6% benefiting from “respite care” measures. Among the identified needs, 69% would like to have someone to temporarily replace them so they can rest, care for their own health, or dedicate time to other family members.
“Family caregivers of people with rare diseases are essential in daily support, yet they often live in silence, with accumulated burden over the years. This study confirms the urgent need to create social and health responses that relieve this pressure, promote self-care, and improve the quality of life of these families”, emphasises Ana Rita Goes, NOVA NSPH faculty member and coordinator of the study.
The conclusions highlight the importance of innovative caregiver support initiatives, such as CUIDARaro, a pioneering project by RD-Portugal that provides up to 20 hours per month of replacement by formal caregivers, allowing periods of rest and recovery. This measure, which can last up to one year, represents much more than free time: it restores dignity, health, and hope to caregivers while ensuring quality care for people with rare diseases.
The exploratory study aimed to characterise the reality of informal caregivers in Portugal, analysing dimensions such as quality of life, caregiver burden, access to support, and physical and mental health conditions. The data also show that older caregivers and those responsible for adult dependents present worse quality-of-life indicators and higher levels of burden.
