Rare disease, common struggles: quality of life, caregiver burden and financial wellbeing of family caregivers in Poland

Abstract

Caregivers of persons with rare diseases (RDs) face elevated stress levels, caregiver burden (CB), financial pressure, and decreased quality of life (QoL). Since the Polish Rare Diseases Plan for 2024–2025 does not address caregivers’ psychosocial needs, this study aimed to assess the experiences of Polish parents of persons with RD. A self-administered, anonymous, computer-assisted online survey was conducted between March and August 2024 to examine the relationship between parenting a person with RD and caregivers’ QoL, CB, and financial well-being. The survey included 942 Polish caregivers of individuals with RDs. The study demonstrated a statistically significant negative association between perceived CB and all dimensions of parents’ QoL – physical health, psychological health, social relationships, and environment – indicating a broad decline in QoL as CB increases. Financial well-being emerged as a consistent positive predictor of QoL and was shown to buffer the negative effects of CB, underscoring its role as a critical resource for caregivers. Additionally, CB was associated with adverse experiences related to the diagnostic odyssey and its perceived consequences. Our findings highlight that long-term caregiving for individuals with RDs imposes substantial emotional, financial, and social burdens. To effectively address these challenges, Polish health policy must move beyond the biomedical model and adopt a comprehensive approach that integrates psychological, social, and financial support for RD families. Future research should explore targeted interventions that strengthen caregiver resources and reduce systemic barriers to support.

Supplementary Information

The online version contains supplementary material available at 10.1038/s41598-025-08866-7.

Introduction

Rare diseases (RDs) are defined in Europe as life-threatening or chronically debilitating conditions affecting fewer than 1 in 2,000 people^1,2. Some are even rarer, with ultra-rare diseases affecting fewer than 1 in 100,000 and hyper-rare 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, and an estimated 2.5 to 3 million individuals in Poland. Although RDs differ significantly in terms of etiology, epidemiology, symptoms, clinical progression, and prognosis – making direct comparisons challenging – they share several common characteristics that justify studying them collectively. Notably, 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 a RDs do not survive past the age of five. Moreover, 95% of RDs currently lack an approved treatment, which adds to the medical and psychosocial burden experienced by affected families³.

RDs encompass a wide spectrum of conditions, including neurological, metabolic, and genetic disorders, each associated with distinct caregiving challenges. Neurological disorders, such as Dravet or Angelman syndrome, affect the brain, spinal cord, and nerves. They may be genetic, acquired, or idiopathic, and often involve seizures, cognitive decline, or motor impairments, requiring constant supervision and specialized rehabilitation^4,5. Metabolic disorders, including phenylketonuria (PKU), Gaucher disease, or maple syrup urine disease, impair the body’s ability to process nutrients and energy. These conditions, often inherited, demand strict dietary control and continuous monitoring to prevent serious complications^6,7. Genetic disorders result from mutations in DNA, either inherited or spontaneous. Conditions such as cystic fibrosis or muscular dystrophy typically affect multiple systems, cause lifelong disabilities, and require complex, multidisciplinary care⁸. These diverse conditions place significant emotional, physical, and logistical strain on caregivers, demanding intensive care, continuous learning, and frequent navigation of fragmented health and social systems.

While current research demonstrates decreased health-related quality of life and increased caregiving burden of parents of children with RDs, rare disease caregiving is associated with numerous adverse effects, thus clear definitions of key constructs are essential.

World Health Organization (WHO) defines quality of life (QoL) as an individual’s subjective assessment of their well-being, functioning, and satisfaction across various domains, including physical, emotional, and social aspects. This evaluation is influenced by personal goals, cultural background, and environmental context⁹.

Caregiver burden (CB), defined as a multidimensional response to stress and negative appraisal related to caregiving, negatively affects caregivers’ physical, emotional, and psychological health, lowering the QoL for both caregivers and children with RDs¹⁰. It includes both objective aspects (the time, physical effort and finances devoted to care) and subjective dimensions (emotional perception and experience). Importantly, the caregiver’s perception of the child’s symptoms and burden may be more significant than the medical diagnosis itself^11,12.

One commonly accepted understanding of well-being describes it as a combination of individuals’ emotional experiences, their ability to manage daily life personally and socially, and their overall assessment of life satisfaction¹³.

Caring for individuals with RDs poses complex and multifaceted challenges, with a profound impact on caregivers’ QoL^14–18. These challenges span emotional, physical, social, and financial domains. Prior research has consistently shown that caregiving burdens – including the financial strain of care¹⁹ and the uncertainty of the diagnostic odyssey²⁰ – negatively affect caregivers’ mental and physical health, reduce social connectedness, and limit work productivity and overall well-being.

Emotional and social impacts are especially prominent. Caregivers frequently report anxiety, depression, guilt, and anticipatory grief^17,18. Parents often describe emotional distress, severe emotional exhaustion and feelings of helplessness^21–23. Socially, their participation in relationships and leisure activities often diminishes, while financial pressures arise due to reduced employment and increased healthcare expenses^24,25. Despite these burdens, many caregivers also describe their roles as meaningful, suggesting a complex dynamic between strain and fulfillment.

Several factors influence CB, such as the severity and type of the child’s illness, caregiving duration, and caregiver demographics^17,18. The burden of caregiving may also differ significantly between rare conditions, as highlighted in comparative studies of syndromes like Lennox-Gastaut and tuberous sclerosis complex^22,26. Among these, financial well-being has emerged as a key moderating factor. It shapes how caregiving demands affect QoL across its physical, psychological, social, and environmental dimensions^24,25. Financial security enables better access to services, improves emotional resilience, and enhances caregivers’ ability to maintain social ties and personal goals.

The practical demands of caregiving are substantial. Daily responsibilities often include managing complex medical regimens, liaising with multiple healthcare providers, and arranging emotional and social support²⁷. Limited access to formal support systems and respite services compounds caregivers’ stress²⁸which may result in physical exhaustion and a sense of social isolation²⁹. Additionally, caregivers are especially vulnerable to “financial toxicity”, a condition where limited resources lead to heightened stress and forced trade-offs in treatment and care³⁰.

The diagnostic odyssey adds further strain. Caregivers commonly face delayed, incomplete, or incorrect diagnoses, which prolong uncertainty, hinder access to appropriate therapies, and increase both emotional and financial costs^31,32. Misdiagnoses often lead to unnecessary procedures and emotional distress³³. Encounters with clinicians unfamiliar with RDs can also leave families feeling unsupported^17,18,29.

Financial well-being plays a crucial protective role. Caregivers with greater economic resources typically enjoy better access to healthcare and support networks, which bolster coping strategies and QoL³⁴. It helps alleviate stress, facilitates participation in socially and emotionally enriching activities, and improves caregivers’ overall resilience.

This study investigates the moderating role of financial well-being in the relationship between CB and QoL across four dimensions: physical health, psychological health, social relationships, and environment. Guided by a theoretical model (Fig. 1), we aim to address the following research questions:

Fig. 1.

A theoretical model for examining the moderating effect of financial well-being on the impact of caregiver burden on perceived quality of life.

RQ1

How does CB influence QoL, and does this effect vary across different QoL dimensions?

RQ2

What is the direct effect of financial well-being on caregivers’ QoL across the four domains?

RQ3

Does financial well-being moderate the relationship between CB and QoL?

The findings aim to inform the development of targeted interventions to alleviate CB and improve caregivers’ QoL, particularly by addressing financial challenges and enhancing support systems.

Methods

Study design

This study employs a quantitative cross-sectional design using a self-administered, anonymous, computer-assisted online survey. This design was chosen as it enables the efficient collection of data from a large and geographically dispersed population of caregivers, allowing for the analysis of associations between caregiving for a person with a RD, caregivers’ perceived QoL, and CB. Additionally, the design supports the exploration of the moderating effects of financial well-being and the diagnostic odyssey on subjective QoL and CB.

Participants and setting

The survey was collected among family caregivers of persons with RDs. Since there is no Polish registry of RD patients, and the precise number of RD patients is unknown, convenience sampling was used in this study, with assistance from several patient associations, foundations, and organisations through their Facebook pages and websites. In addition, a snowball sampling effect was observed, as many participants reported sharing the survey link within their caregiver communities.

Participants were included if they were over 18 years old, spoke Polish, were parents or family caregivers of a person with a confirmed diagnosis of RD, had access to the Internet and the ability to use electronic devices to complete an online survey, and provided written informed consent to participate. Additionally, each condition had to meet the official definition of a RD and was verified using the ORPHAN database. At the same time, although the diagnosis information was self-reported by caregivers, the questionnaire explicitly asked whether the diagnosis had been confirmed through molecular testing. This allowed us, in line with the inclusion criteria, to exclude all respondents whose children were still in the process of receiving a confirmed diagnosis.

Of the nearly 160 RDs reported by caregivers, the most common diagnoses were Duchenne/Becker muscular dystrophy (22.4%), 22q11.2 deletion syndrome (13.9%), Angelman syndrome (12.7%), Dravet syndrome (11.3%), Williams syndrome (5.1%), and neurofibromatosis (3.5%). Additionally, 20.3% of participants (191 individuals) reported one of 150 other rare conditions. These findings highlight both the diagnostic complexity and the heterogeneity of the RD patient population.

The study sample consisted of 942 caregivers of individuals with RDs, mostly female (86.2%) and primarily within the 30–49 age range (84.4%) (Table 1). 65.7% of respondents had obtained a university degree, 52% were employed either full- or part-time, and 48% were unemployed. The highest proportion of caregivers resided in communities with populations of up to 10.000 (35.4%).

Table 1.

Sociodemographic profile of caregivers participating in the study.

Characteristics	N	Fraction
Gender
Female	812	86.2%
Male	130	13.8%
Age
16–29	34	36%
30–49	795	84.4%
50 and more	113	12.0%
Education
Non-university degree	323	34.3%
University degree	619	65.7%
Professional Activity
Employed (full- or part-time)	490	52.0%
Unemployed	452	48.0%
Domicile
Up to 10k inhabitants	333	35.4%
10-100k inhabitants	288	30.6%
Above 100k inhabitants	321	34.1%

Ethical issues

This study complied with the ethical standards of the Declaration of Helsinki (revised in 2000) and was approved by the Poznan University of Medical Sciences Bioethics Committee (KB – 228/24). All eligible participants provided informed written consent by selecting an “I agree” or “I do not agree” checkbox on the online form.

Research questionnaire

The questionnaire used in this survey comprised five sections. The first contained questions about the sociodemographic characteristics of caregivers and RD patients. The second part included questions regarding caregivers’ experiences with the diagnostic process and their perceptions of its consequences. The third part contained the abbreviated Polish version of the WHO Quality of Life-BREF (WHOQOL-BREF)³⁵which comprises 24 items categorised into four domains: physical health, psychological health, social relationships, and environment. Additionally, the questionnaire included two questions assessing respondents’ general health and QoL. Respondents utilised a 5-point Likert scale to rate their experiences throughout the preceding two weeks when answering these questions. Higher scores indicate a higher QoL.

The fourth part included the Polish version of the Zarit Burden Interview (ZBI)³⁶which evaluates the impact of caregiving on an individual’s psychological well-being, financial status, relationships with the care recipient, and social life. The total score, ranging from 0 to 88, is the sum of the scores for each of the 22 items rated on a 5-point Likert scale. Higher ratings indicate an elevated level of caregiver stress. The last part contained the US Consumer Financial Protection Bureau Financial Well-Being Scale (CFPB-FWBS)³⁷which evaluates a person’s financial security and freedom of choice. Since the CFPB-FWBS does not exist in Polish, it was first back-translated by two translators fluent in English and Polish and then adapted to Polish conditions. Next, it was pre-tested with twenty healthy adults and caregivers of children with chronic illnesses. The scale’s strong sensitivity and consistency, even in such small groups, confirmed its suitability for our study.

Data collection

The survey was conducted between March and August 2024 among family caregivers of persons with RDs. Firstly, the research coordinator contacted several RD patient associations, foundations and organisations, and after receiving their permission, the invitation letter with the link to an online questionnaire was distributed via their websites and Facebook pages. A total of 73 patient associations, foundations, and support groups were contacted, many of which represent multiple rare conditions or support the broader RD community (see: Acknowledgments). After all caregivers gave their written informed consent to participate, they completed the survey using electronic devices. Three follow-up messages were sent in May, June and July. The survey took between 20 and 25 min to complete.

Data analysis

All analyses presented herein were performed using R Statistical Software (v4.3.1)³⁸. The online supplementary materials (SM1-SM4) contain the replication codes and additional analysis supporting the results presented in this paper. The analysis employed multiple linear regression models utilising restricted (residual) maximum likelihood (REML) estimation methods. The detailed specification of the regression analyses can be found in Sect. 3 of SM1, while diagnostic checks for the REML estimation method are included in SM1, Sect. 4. In addition, SM2, SM3, and SM4 present the results of confirmatory factor analysis, with reliability scores and descriptive statistics that support the investigation of latent scores for the WHOQOL-BREF outcome, ZBI and CFPB-FWBS, respectively. Finally, we performed additional analyses (Sect. 5 in SM1) to investigate the potential for confounding effects of the diagnostic odyssey and the negative consequences of misdiagnosis, as outlined in the theoretical model (Fig. 1).

The internal consistency of the instruments used in the study was assessed using Cronbach’s alpha coefficients. The results demonstrated good to excellent reliability across the various domains: 0.818 for the WHOQOL Physical Domain, 0.843 for the WHOQOL Psychological Domain, 0.700 for the WHOQOL Social Relationships Domain, and 0.807 for the WHOQOL Environment Domain. Additionally, high reliability was observed for the ZBI with a Cronbach’s alpha of 0.919, and for the CFPB-FWBS with an alpha of 0.912.

Results

The analysis yielded several important findings regarding the relationship between caregiver burden (CB) and quality of life (QoL). Concerning RQ1, the findings reveal a significant and negative association between CB and all four QoL dimensions, which is statistically significant (Table 2). The coefficients demonstrate a negative relationship, with − 0.30 for physical health, −0.39 for psychological health, −0.44 for social relationships, and − 0.44 for environment, all at p <.001. These results indicate that QoL significantly declines across all domains as CB increases. The inclusion of the squared term of the CB scale reveals a further significant negative association in the physical health, psychological health, and social relationships dimensions, suggesting a non-linear effect where the negative impact of CB intensifies at higher levels, thereby underscoring the compounded strain experienced by caregivers facing extreme burden levels.

Table 2.

Summary of regression results for verifying the theoretical model.

Regression terms	Full model: Physical health		Full model: Psychological health		Full model: Social relationships		Full model: Environment
	Est.	SE	Est.	SE	Est.	SE	Est.	SE
Intercept	−0.09	0.069	−0.13	0.089	−0.26*	0.102	−0.13	0.102
Gender: [Male = 1]	0.01	0.035	−0.01	0.046	−0.06	0.052	−0.01	0.052
Age of caregiver: 30–49 [ref. up to 29]	0.13*	0.062	0.17*	0.080	0.32***	0.092	0.18*	0.091
Age of caregiver: 50+ [ref. up to 29]	0.09	0.069	0.14	0.090	0.35***	0.103	0.14	0.102
Education of caregiver: University [ref. Non-university]	−0.04	0.027	−0.04	0.035	−0.04	0.040	−0.04	0.040
Job activity: [Unemployed = 1]	−0.02	0.026	−0.02	0.034	−0.02	0.039	−0.02	0.039
Domicile: 10-100k [ref. Up to 10k]	0.07*	0.029	0.07*	0.037	0.08	0.042	0.08	0.042
Domicile: Above 100k [ref. Up to 10k]	0.04	0.028	0.05	0.037	0.04	0.042	0.06	0.042
ZARIT: Burden scale	−0.30***	0.019	−0.39***	0.025	−0.44***	0.028	−0.44***	0.028
Square of ZARIT: Burden scale	−0.05*	0.025	−0.07*	0.033	−0.08*	0.037	−0.06	0.037
CFPB Financial Well-being	0.30***	0.019	0.38***	0.025	0.36***	0.029	0.52***	0.029
Square of CFPB Financial Well-being	0.01	0.025	0.02	0.032	0.02	0.037	0.04	0.037
Diagnosis odyssey [A diagnosis was promptly rendered = 1]	0.001	0.028	−0.01	0.036	−0.01	0.041	0.01	0.041
Index of negative consequences of misdiagnosis	−0.03**	0.011	−0.03*	0.014	−0.03	0.016	−0.05**	0.016
ZARIT: Burden scale x CFPB Financial Well-being	−0.09**	0.029	−0.11**	0.037	−0.09*	0.043	−0.12*	0.043
Observations	942		942		942		942
R2/R2 adjusted	0.466/0.457		0.454/0.446		0.413/0.404		0.500/0.492
AIC	716.687		1203.827		1459.909		1452.296
log-Likelihood	−342.344		−585.914		−713.955		−710.148

Notes: * p <.05; ** p <.01; *** p <.001.

The findings also demonstrate that financial well-being is a significant positive predictor of QoL across all dimensions, with coefficients of 0.30 (physical health), 0.38 (psychological health), 0.36 (social relationships), and 0.52 (environment), all at p <.001. These findings provide data for RQ2 and underscore the importance of financial well-being as a key resource for improving caregivers’ overall QoL. The most considerable effect is observed in the environmental domain, suggesting that financial stability is particularly significant in enabling caregivers to maintain a healthy living environment and access to essential resources. However, the squared term of the CFPB-FWBS scale is not significant, suggesting a linear relationship within the observed data range.

Finally, RQ3 explores the moderating role of financial well-being on the relationship between CB and QoL. The interaction term is significant across all dimensions, with coefficients ranging from − 0.09 (social relationships) to −0.12 (environment). These findings indicate that financial well-being serves as a moderator for shaping the relationship between CB and QoL. The moderating effects have been plotted in Fig. 2 to facilitate their interpretation.

Fig. 2.

Moderating effects of financial well-being on the impact of the burden scale on QoL dimensions.

The findings contradicted the hypothesis that financial well-being serves as a buffering factor against the impact of caregiving responsibilities. The negative interaction coefficients imply that caregivers with higher financial well-being experience a more pronounced decline in QoL as their CB increases. This finding could indicate a complex dynamic where higher financial well-being enables caregivers to assume more caregiving responsibilities, thereby amplifying the impact of these responsibilities on their QoL. Alternatively, individuals with higher financial well-being may have higher baseline expectations for QoL, making the decline due to caregiving responsibilities feel more acute.

The regression analysis provides further context for understanding variations of QoL among caregivers. Age emerges as a significant factor, with caregivers aged 30–49 and 50 + reporting better QoL than younger caregivers across multiple dimensions. Furthermore, the analysis reveals that caregivers residing in medium-sized towns (population size 10,000-100,000) exhibit modestly higher physical and psychological QoL than those residing in smaller communities. However, this advantage is not sustained in larger urban areas. Simultaneously, no significant associations between QoL and caregivers’ gender, education and professional activity were found, suggesting that factors such as CB and financial resources play a pivotal role in shaping caregivers’ QoL.

Finally, the analysis of misdiagnosis consequences reveals a significant negative impact on physical health and environmental QoL, underscoring the importance of timely and accurate diagnoses in mitigating caregivers’ emotional and logistical challenges. The models explain a substantial portion of the variance in QoL outcomes, with adjusted R² values ranging from 40.4% (social relationships) to 49.2% (environment), indicating good explanatory power. Collectively, these findings validate the theoretical model and underscore the dual role of financial well-being as both a direct enhancer of QoL and a buffer against the adverse effects of CB.

Discussion

In September 2024, the Council of Ministers formally adopted the Polish Rare Diseases Plan for 2024–20,252². While the Plan aims to improve the QoL for individuals with RDs by introducing comprehensive and coordinated healthcare services, improving access to modern genetic diagnostics, treatments, and medications, and specific dietary and medical equipment, it also seeks to establish Expert Centers for RDs, and create a Polish Register of RDs, an RD Patient Card, and an RDs Information Platform. However, since the Plan focuses on the clinical needs of persons with RDs, it barely tackles the psychosocial needs of RD families.

This study confirms that providing long-term care for a person with an RD significantly affects caregivers’ health and mental well-being and is a source of physical, emotional, and social strain. To improve clarity and flow, the discussion is now structured around three key findings that contribute to the existing body of knowledge regarding the relationship between parental stress and caregiving for a person with RD^17,18,34,39.

First, the study shows that perceived CB significantly influences the QoL of parents of individuals with RD across all dimensions. However, previous research also demonstrated that due to the multifaceted nature of caregiving tasks, RD parents report physical tiredness, severe sleep deprivation, and a decline in mental health^17,18,39. Moreover, since caregiving lasts for many years or even decades, requires constant commitment and 24/7 care, many caregivers report high levels of distressing emotions such as anxiety, depression, helplessness, guilt, isolation, and anticipated grief^{17,18,28,40,41}. Consequently, they often feel role overload, report an inability to cope with parental stress, experience caregiver burnout, and feel unable to perform other social roles. Finally, the substantial effects of caregivers’ strain on RD’s parents’ physical and mental health, social functioning, and financial resources were also noted in earlier research^19,42.

Second, this study highlights the moderating role of perceived financial well-being on caregivers’ subjective QoL and CB, which were significantly dependent on their sense of financial well-being: caregivers who felt more financially secure reported a lower impact of CB on their perceived QoL²⁵. This finding supports the observation made by previous research that demonstrates the significant impact of carrying for a person with an RD on work productivity and family finances, which results in a decline in the family’s economic status, subjective happiness, and QoL^25,43. Both direct and indirect medical costs, or healthcare services rendered both inside and outside the medical system, as well as direct and indirect social costs, such as time spent on caregiving responsibilities and expenses associated with job loss or work restrictions, absenteeism due to caregiving responsibilities, and reduced income, have been documented in numerous studies as contributing to the substantial financial burden of RD caregiving^19,42,44.

Interestingly, a counterintuitive pattern emerged in the moderation analysis: in certain domains, caregivers with higher financial well-being did not experience proportionally lower burden, suggesting a more complex dynamic. This may reflect unmet expectations, increased perceived responsibility, or sociocultural pressures among financially stable families⁴⁵. Gender-based and cultural norms around caregiving may also shape these perceptions, potentially leading to underreporting or overreporting of burden^46,47. Further qualitative research is needed to better understand this phenomenon and its contextual underpinnings.

Third, while financial well-being moderates the relationship between caregivers’ perceived CB and QoL, this study also shows that caregivers’ strain was affected by parental experiences with the diagnostic odyssey and perceived negative consequences of misdiagnosis^29,31–33. However, this is not surprising, given the well-documented diagnostic odyssey in RD patients whose struggle to receive correct diagnosis often lasts five, ten, or more years^32,48,49. The latter is crucial since it was while struggling with the prolonged diagnostic journey that many parents report consulting multiple doctors, obtaining conflicting opinions, and incorrect diagnoses^27,29. Consequently, many patients with RD often undergo needless procedures, such as testing, medications, hospital stays, or even surgeries^31,32,49. While many of these operations are unpleasant, frightening, or painful, they may worsen the patient’s condition or even lead to death. Early diagnosis can improve persons’ with RD quality of life and health outcomes it has also been linked to lower treatment costs and a lower prevalence of rare disease-related financial hardship¹. However, in addition to raising medical expenses for the hospital system, RD families also face exorbitant direct and indirect medical expenses, as well as indirect costs brought on by their diminished capacity to work, decreased productivity, absenteeism, and overall financial burden^{19,24,25,42,43}. These financial burdens can be up to ten times higher per person compared to individuals without an RD.

It is also worth noting that the socioeconomic profile of the sample – with a high proportion of university-educated and employed participants – may have influenced the findings. Individuals with higher education and employment status might have better access to resources, information, and support networks, potentially shaping their perceptions of CB and QoL.

Beyond the diagnostic odyssey and financial well-being explored in this study, previous research also highlights the importance of other contextual factors such as disease severity and the availability of social support and healthcare services. For example, availability of social support and access to healthcare services are crucial contextual factors, as research consistently shows they can significantly alleviate CB and enhance QoL for families affected by RDs^27,29,50. The severity of a RDs significantly affects CB and QoL²². Caregivers of children with life-limiting or life-threatening RDs report more emotional distress, greater personal sacrifices, and heavier financial burdens compared to those caring for children with less severe conditions²⁶.

Notably, the sample was predominantly composed of female caregivers, a finding consistent with other studies in this field^45,47,51,52. However, this gender imbalance may limit the generalisability of the results to male caregivers or other family members who share caregiving responsibilities. Given documented gender differences in caregiving experiences – such as coping strategies, perceived burden, and access to support – future studies should explore these dynamics more thoroughly to strengthen the applicability of findings across diverse caregiver populations.

Strengths and limitations

While this is the most extensive study on the experiences of caregivers of persons with various RDs, it is one of the few Polish studies to comprehensively evaluate the association between caregiving for a person with RDs and perceived QoL and CB. Additionally, to our knowledge, this is the first and only study to estimate the moderating role of financial well-being and the diagnostic odyssey. Thus, since the Polish Plan for Rare Diseases focuses on the clinical aspects of RDs and patients by highlighting the psychosocial dimension of caring for a person with an RD, this study demonstrates the importance of a holistic approach to RDs that should include entire families. A major strength of this study is its large and diverse sample, which included caregivers of individuals with a wide range of rare diseases, enhancing the generalisability of the findings.

This study has several limitations. Although 942 caregivers completed the survey, the estimated number of RD patients in Poland is between 2.5 and 3 million. Nevertheless, there still needs to be a patient registry in the country. Secondly, as this was a computer-assisted online survey, it may introduce recruitment bias by attracting individuals who have internet access and are active in support networks – a factor that may correlate with higher education levels and better financial standing. Consequently, caregivers with lower socioeconomic status or limited digital literacy may be underrepresented. Thirdly, there was also a possible gender bias as female caregivers predominated. Additionally, the overrepresentation of participants with a university education may affect the generalisability of the findings, as education level can influence both coping strategies and access to resources. Another limitation is the inability to calculate the response rate or conduct sensitivity analyses comparing participants and non-participants due to the anonymous, open recruitment method. Lastly, a more in-depth qualitative study is required, as this study was designed as a quantitative survey.

Conclusions

While this study shows that providing long-term care for a person with an RD generates health, mental, emotional, financial, and social burdens in caregivers, it also highlights a critical issue: by focusing on clinical aspects and the patients, the Polish Plan ignores the social dimension of RDs, with the biomedical paradigm still dominating in Polish health policy, as an RD is still defined mainly as an individual problem of a medical nature. Therefore, the prepared plan for RDs is an example of progressive medicalisation⁵³diverting attention from the social, economic or educational needs of patients and their families, which are outside the scope of the state’s social policy. A paradigm change requires a multifaceted approach that should include the health, psychological, emotional, social and financial needs of RD caregivers and their families.

This means recognising caregivers not just as auxiliary figures in the healthcare process, but as individuals with their own support needs, whose well-being directly affects the quality of care provided to patients. Shifting toward a more inclusive, biopsychosocial model of RDs care would require cross-sector collaboration, including social services, education, labour, and health departments. Based on the study’s findings, we recommend the following actions:

1. Integrate medical, psychological, and social services into comprehensive, family-centred care plans.

2. Implement caregiver education programmes focusing on stress management, coping mechanisms, and emotional resilience.

3. Introduce financial support mechanisms, including healthcare subsidies, childcare aid, workplace flexibility, and vocational rehabilitation programmes.

4. Expand access to mental health care, respite services, and trained caregiving support to alleviate burnout.

5. Promote peer and community-based support, such as support groups and public campaigns to combat stigma and foster social inclusion.

6. Ensure regular mental health screening and access to psychological support for caregivers.

7. Expand access to respite care and trained care assistants to offer caregivers periodic relief.

8. Improve access to modern genetic testing and streamline diagnostic referral processes for faster, earlier intervention.

9. Train general practitioners to recognise early symptoms of RDs and foster effective, empathetic communication with families, particularly at the diagnostic stage.

Electronic supplementary material

Below is the link to the electronic supplementary material.

Abbreviations

CB

Caregiving burden

CFPB-FWBS

The Consumer Financial Protection Bureau Financial Well-Being Scale

RD

Rare disease

QoL

Quality of life

WHOQOL-BREF

WHO Quality of Life-BREF

ZBI

Zarit Burden Interview

Author contributions

Conceptualisation: JD, DW. Data curation: DW. Formal analysis: DW, PJ. Investigation: JD. Methodology: JD, PJ, DW. Project administration: JD. Resources: PJ, DW. Software: PJ. Supervision: JD. Validation: JP, DW. Visualisation: PJ. Writing – original draft: JD, PJ, DW. Writing – review & editing: JD, PJ, DW. All authors had full access to all the data in the study and had final responsibility for the decision to submit for publication. All authors contributed equally to this paper.

Funding

This research received no funding.

Data availability

The data supporting this study’s findings are not openly available due to reasons of sensitivity and are available from the corresponding author upon reasonable request. Access to the data will be provided to researchers who submit a methodologically sound proposal. The data will be available for 10 years following the article’s publication.

Declarations

Ethics approval and consent to participate

This study was performed in line with the principles of the Declaration of Helsinki. Ethics and research governance approval were obtained from the PUMS Bioethics Committee (KB − 288/24). Informed consent was obtained from all individual participants included in the study.

Consent for publication

Not applicable.

Competing interests

The authors declare no competing interests.