Rare diseases affect an estimated 2.5-3 million people in Poland and pose many challenges requiring a comprehensive policy approach. A comprehensive study of 942 Polish families caring for individuals with rare diseases has found that caregivers face elevated stress levels, caregiver burden, financial pressure, and decreased quality of life.
The paper by Prof dr hab. Jan Domaradzki and Prof Dariusz Walkowiak from Poznan University of Medical Sciences, and Prof. UAM dr hab. Piotr Jabkowski from Adam Mickiewicz University in Poznań published in Nature Scientific Reports, highlights critical gaps in Poland’s current healthcare policy approach.
Rare diseases in Europe
Rare diseases (RDs) are defined in Europe as life-threatening or chronically debilitating conditions affecting fewer than 1 in 2,000 people. For instance, cystic fibrosis, the most common genetic disorder among Caucasians, has an average prevalence at birth of 1 in 5,000 in Europe, while Huntington’s disease has a prevalence of 6.37 per 100,000 in Europe, classifying it as ultra-rare. Some are even rarer, with hyper-rare diseases affecting fewer than 1 in 1,000,000. With over 10,000 identified RDs, they affect up to 30 million people in the EU, over 350 million globally.
As authors of the study emphasise, “80% of RDs have a genetic origin, and 65% lead to serious clinical manifestations. Half of those affected by RDs are children, and tragically, 30% of children with RDs do not survive past the age of five”.
Time commitment and gender disparities
Caregiving for rare diseases in Europe represents a substantial and largely underrecognized burden affecting millions of families across the continent. In 2017, over 3,000 rare disease voices across Europe responded to the survey. The data revealed that rare diseases have a serious impact on everyday life for over 80% of patients and families.
The time commitment is particularly demanding, with 42% of respondents spending more than 2 hours a day on care for their disease, while 62% of carers reported they spend more than 2 hours per day on tasks related to the disease and nearly a third spend more than 6 hours a day on care for a patient. This caregiving responsibility falls disproportionately on women, as at least 64% of carers are women. In extreme cases, caregivers may dedicate between 12 and 24 hours to assist a person’s partial or total dependency.
The scope of burdens
Caregiving burden means a multidimensional response to stress and negative appraisal related to caregiving. The study by researchers from Poznań revealed a statistically significant negative association between perceived caregiver burden and all dimensions of parents’ quality of life – caregiver burden significantly impacts all dimensions of quality of life, with caregivers experiencing chronic fatigue, sleep deprivation, anxiety, depression, and social isolation that can persist for years or decades.
Financial wellbeing emerged as a crucial factor, serving as both a positive predictor of quality of life and a moderator of caregiver burden’s impact. However, the researchers discovered a counterintuitive pattern: caregivers with better financial resources sometimes experienced more pronounced quality of life declines as their burden increased, possibly due to higher baseline expectations or increased caregiving responsibilities.
Diagnostic odyssey
The study confirmed that Poland’s often prolonged and frustrating diagnostic processes (often lasting 5-10 years or more) significantly compound caregiver stress. Families endure multiple consultations, conflicting diagnosis, and unnecessary procedures that can worsen patient conditions while creating financial hardship up to ten times higher than for families without rare diseases.
Most importantly, the research directly challenges Poland’s recently adopted Rare Diseases Plan for 2024-2025, which focuses primarily on clinical aspects while – according to this study – largely ignoring caregiver needs. The authors argue this represents progressive medicalization, diverting attention from the social, economic, and educational needs of patients and their families.
Researchers contend this biomedical paradigm treats rare diseases as individual medical problems rather than complex family challenges requiring comprehensive support. They recommend a paradigm shift toward a biopsychosocial model that integrates medical, psychological, and social services; implements caregiver education and financial support programs; expands mental health care and respite services; improves diagnostic processes; and recognizes caregivers as individuals with their own support needs rather than merely auxiliary figures in the healthcare process.
More
- Domaradzki, J., Jabkowski, P. & Walkowiak, D. Rare disease, common struggles: quality of life, caregiver burden and financial wellbeing of family caregivers in Poland. Sci Rep15, 22678 (2025). https://doi.org/10.1038/s41598-025-08866-7
Informal care in Europe – European Commission - Eurordis
