ORCID: Jan Domaradzki,
Rare diseases (RDs) pose a significant public health concern, particularly in Poland, where awareness among healthcare professionals, educators, and the general public remains low. Rare disease patient advocacy groups (RDPAGs), often led by caregivers, play a vital yet under recognized role in addressing these gaps through informal education and advocacy. This study explores how RDPAGs help fill systemic gaps in RD-related education.
This qualitative descriptive study draws on 11 interviews with leaders of Polish RDPAGs engaged in advocacy, education, and public engagement. Interviews were analysed using Reflexive Thematic Analysis, following Braun and Clarke’s six-phase framework, and reported in line with COREQ guidelines.
The analysis identified four interrelated themes describing the educational and advocacy practices of RDPAGs. Participants portrayed RDPAGs as: (1) acting as ambassadors of knowledge across sectors by translating scientific and experiential expertise into accessible information; (2) supporting families through lived experience by providing curated resources, peer mentoring, and practical guidance, particularly following diagnosis; (3) engaging with and sometimes challenging professional expertise by sharing caregiver-informed knowledge, co-developing materials, and initiating dialogue with healthcare and education professionals; and (4) raising public awareness and engaging in policy-oriented advocacy through campaigns and inter-organizational collaboration. Collectively, participants described these practices as addressing systemic knowledge gaps and supporting cross-sectoral care navigation.
The findings indicate that healthcare, education, and policy systems in Poland already rely substantially on the informal educational and advocacy work of RDPAGs. Formal recognition and support may help stabilize these contributions, provided that issues of sustainability, role boundaries, and uneven organizational burdens are taken into account.
In the European Union (EU), a rare disease (RD) is defined as a condition affecting fewer than 1 in 2,000 individuals (
A persistent barrier in the RD field is limited awareness and knowledge among healthcare professionals, policymakers, and the general public. Numerous studies document substantial knowledge gaps among physicians, particularly primary care providers (PCPs), who report inadequate training and low confidence in caring for RD patients (
These knowledge deficits contribute to the so-called “diagnostic odyssey,” a prolonged and distressing search for an accurate diagnosis, often involving multiple providers, misdiagnoses, and delayed access to specialized and coordinated care (
Knowledge deficits are also evident in the education sector. Although many teachers are familiar with general principles of inclusion, they often lack condition-specific knowledge and training required to support students with RDs (
In this context, rare disease patient advocacy groups (RDPAGs) represent a prominent site where educational and awareness-raising practices are articulated and enacted in response to perceived systemic knowledge gaps. These organizations have been described as contributing to knowledge circulation, family support, and engagement with healthcare professionals and policymakers through educational initiatives and advocacy efforts (
Importantly, many RDPAG leaders are themselves parents or patients, meaning that lived experience is intrinsically embedded in their educational and advocacy practices. This interweaving of experiential and biomedical knowledge underpins the multidimensional nature of their work and provides a basis for examining their educational roles as a set of interconnected practices rather than as isolated or sector-specific activities.
In Poland, RDPAGs collaborate through support networks, national federations, and umbrella organizations such as the Federation of Polish Patients (FPP) and EURORDIS. As highlighted in the 2025 ORPHAN Report, they play a growing role in disseminating accessible disease-specific information and organizing educational initiatives for both families and professionals (
From a sociological perspective, these developments resonate with broader debates on lay expertise and the shifting boundaries between professional and experiential knowledge. Research in medical sociology and science and technology studies has shown that lay actors increasingly mobilize experience-based and condition-specific knowledge in ways that reconfigure established boundaries of expertise (
This study, therefore, aims to explore how RDPAGs in Poland engage with educational gaps in the RD landscape. Specifically, it examines the strategies, challenges, and perceived impact of patient-led educational efforts directed toward families, healthcare professionals, and the general public. A combination of these issues led to the following research questions: (1) how do RDPAGs support families with RD in terms of information, education, and peer guidance? (2) What strategies do they use to raise awareness and improve knowledge about RDs among professionals and the public? (3) What challenges and opportunities do they face in fulfilling this educational role within the Polish healthcare context?
This study forms part of a broader project examining the role of patient-led organizations in the RD landscape, with the present analysis focusing specifically on their educational and informational functions. Since no prior research has explored this topic in Poland, the study employed a Qualitative Descriptive (QD) design (
The QD approach aims to provide rich, straightforward descriptions of phenomena without imposing theoretical abstraction or pre-existing frameworks. It allowed the exploration of how RDPAGs in Poland engage in educational and informational activities across multiple sectors. The study was based on individual in-depth interviews with 11 leaders of RDPAGs, including foundations and associations supporting individuals with rare conditions and their families.
This study adhered to the Consolidated Criteria for Reporting Qualitative Research (COREQ) (
The study was guided by three research questions addressing the educational strategies, audiences, and systemic challenges faced by RDPAGs in Poland. By highlighting the voices of organizations involved in education and advocacy, the study offers insight into how RDPAGs operate within the Polish RD ecosystem and their implications for policy, professional training, and future support initiatives.
Eligibility criteria included: age 18 or older, active involvement in an RD organization for at least 1 year, holding a leadership role, willingness and ability to participate in an online interview, informed consent, fluency in Polish, and access to the Internet.
A purposive sampling strategy was used. Organizational leaders were selected as participants because they are directly involved in designing, coordinating, and representing educational and advocacy activities at the interface between patient communities and healthcare, educational, and policy institutions. This positioning makes them particularly well-suited to reflect on organizational strategies, target audiences, and system-facing challenges relevant to the research questions.
Participants were recruited through the Facebook pages of relevant patient associations and foundations working in the RD field, with the invitation explicitly addressed to individuals holding leadership or coordinating roles within these organizations. This open call described the study’s purpose and eligibility criteria, and interested individuals contacted the researcher directly.
Of the 12 individuals who initially responded to the call, 11 ultimately participated. One person declined due to time constraints, and another withdrew before the interview but referred a colleague from the same organization, who joined the study instead.
All participants were leaders of RDPAGs and primary caregivers to individuals with RDs, reflecting the empirical organization of the RD advocacy field, in which patient organizations are typically founded and led by parents or patients. While this dual positionality was not an
The interview schedule was developed specifically for this broader research project using the Qualitative Pretest Interview method (
Although the full schedule was designed to broadly explore how caregivers build, maintain, and benefit from support networks, the present study focuses only on a subset of questions addressing the educational and informational functions of RDPAGs. These included, for example, the types of informational support provided to community members and broader educational activities aimed at raising public awareness of RDs (
Two pilot interviews were conducted to refine the instrument, identify potential biases, and improve research logistics, leading to minor revisions and enhancing both methodological and social validity.
The final schedule was reviewed by two patient-organization board members and one medical sociologist and was approved by the PUMS Bioethics Committee.
Due to the geographic dispersion of RD communities and limited participant availability, interviews were conducted via MS Teams in July 2025. Ten interviews were audio-video recorded, while one participant, due to scheduling constraints, provided written responses to the same interview guide. The written response followed the same semi-structured interview guide and addressed all core analytic domains. It was treated as supplementary material and used primarily to support and contextualize themes identified across the interview dataset, rather than as a primary driver of theme development. No themes were generated solely on the basis of the written account. The written account was reviewed for completeness and thematic relevance and included in the final dataset.
In total, 11 interviews were completed. All interviews were conducted by the author, a medical sociologist with experience in RD research and qualitative methodologies. Each interview lasted approximately 70 min, yielding over 12 h of audio material. Most participants joined from home, fostering a sense of comfort and privacy.
Transcriptions were prepared using the built-in Microsoft Teams transcription tool and were manually verified for accuracy against the audiovisual recordings. While participants did not request transcript validation, they were encouraged to clarify or expand their statements during the interviews if needed. Follow-up interviews were deemed unnecessary due to the richness and clarity of the collected data.
Recruitment and analysis proceeded iteratively until the data provided sufficient depth and richness to support coherent and well-developed themes (
Interviews were conducted with representatives of organizations supporting individuals with various rare and ultra-rare conditions, including neurological, genetic, and metabolic disorders. To ensure anonymity, all identifying details, such as specific disease names or organizational affiliations, were removed from the transcripts and the analysis.
The data were analysed using Reflexive Thematic Analysis (RTA) following Braun and Clarke’s six-phase framework, which provides a flexible yet rigorous approach for identifying, developing, and interpreting patterns of meaning in qualitative data (
After familiarization with the transcripts, the researcher generated open, descriptive codes by systematically reviewing participants’ explicit responses. These initial codes were clustered into candidate themes based on conceptual relatedness. Themes were then reviewed for internal coherence, refined recursively, and clearly defined through further engagement with the data. Final themes were named, described, and supported with illustrative participant excerpts.
This method aligned with the study’s Qualitative Descriptive design, which prioritizes low-inference interpretation, close attention to participants’ language, and practice-relevant findings. The use of semantic and inductive RTA is congruent with QD methodology, as both emphasize staying close to participants’ accounts and avoiding abstract theorizing (
Data collection and analysis proceeded iteratively. By the ninth interview, key themes were conceptually well developed and richly supported; the final two interviews helped reinforce, refine, and elaborate the theme structure. While the concept of “saturation” has been debated in RTA (
To enhance analytic rigour, an audit trail was maintained, documenting decisions about coding and theme development. Reflexivity was practiced throughout the study through memo-writing and critical self-reflection, acknowledging how the researcher’s disciplinary background in medical sociology and prior experience in RD research influenced the analytic process. This positionality shaped analytic sensitivity to issues of advocacy, power, and knowledge asymmetries within health and social systems, and was treated as an analytic resource rather than a source of bias (
Although coding and theme construction were carried out by a single researcher, analytic rigor was ensured through prolonged engagement with the data, iterative theme refinement, reflexive memo-writing, and the maintenance of a transparent audit trail documenting analytic decisions. Consistent with RTA, rigor was conceptualized in terms of reflexivity, coherence, and transparency rather than inter-coder agreement (
The use of RTA was intentionally aligned with the QD design of the study. While QD prioritizes low-inference, practice-oriented accounts grounded in participants’ everyday language, RTA offers a flexible analytic framework that enables systematic pattern identification without imposing pre-existing theoretical constructs. In this study, RTA was applied in a predominantly semantic and inductive manner, consistent with the aims of qualitative description, allowing themes to remain close to participants’ accounts while supporting reflexive engagement with meaning-making processes, rather than theorizing beyond the data.
The study included 11 representatives of RD patient organizations (
Study participants.
| Characteristic | Details |
|---|---|
| Age (years) | Range: 36–53 |
| Gender | Female: 9 |
| Position in the organization | President: 6 |
| Years of involvement in the organization | Range: 1–9 |
| Size of organization (members) | Range: 50–800 |
| Scope of activity | National: 3 |
| Relationship with a person with RD | Parent: 10 |
| Worldwide prevalence of the disease | 1:2000–1:50000: 9 |
Their involvement in the organization varied from 1 to 9 years, with a mean of 4.7 years. The size of the organizations they represented ranged from 50 to 800 members, with an average of approximately 291 members. In terms of operational scope, two organizations operated at the national level, while the remaining seven combined national and international activities. Regarding personal connection to RD, 10 participants were parents of affected individuals, and one was a patient themselves. Nine participants were linked to diseases affecting between 1 in 2,000 and 1 in 50,000 individuals globally, while two were associated with ultra-rare conditions diagnosed in fewer than 1 in 1,000,000 people.
The analysis identified a central theme capturing how participants described RDPAGs as acting as intermediaries of knowledge, often referred to by leaders as “ambassadors.” This role was articulated in relation to translating experiential knowledge into educational, advocacy, and system-facing practices (
Themes and subthemes emerging from qualitative analysis.
| Theme | Subthemes | Interpretive description |
|---|---|---|
| 1. Ambassadors of Knowledge | 1.1. Trusted and up-to-date knowledge holders | RDPAGs serve as reliable sources of current, verified medical and experiential knowledge for families, professionals, and institutions. |
| 1.2. Bridging knowledge gaps across stakeholders | RDPAGs work to reduce knowledge asymmetries between patients, caregivers, professionals, and policymakers. | |
| 1.3. Advocacy for systemic awareness and recognition of RDs | RDPAGs actively promote recognition of rare diseases at the systemic level and advocate for their inclusion in health and education policies. | |
| 2. Navigating Uncertainty: Supporting Families Through Experiential Knowledge | 2.1. Early-stage informational support after diagnosis | RDPAGs provide crucial guidance and clarity to families following diagnosis, helping to reduce confusion and isolation. |
| 2.2. Ongoing education and access to curated, reliable knowledge | RDPAGs offer continuous, tailored educational resources through webinars, guides, and direct support. | |
| 2.3. Peer-to-peer mentoring | RDPAGs facilitate emotional support and experiential knowledge exchange among caregivers with shared challenges. | |
| 2.4. Participation, responsibility, and community engagement | RDPAGs empower families to become active participants in advocacy and community-building, fostering confidence and collective agency. | |
| 3. Challenging Expertise: Shaping Professional Practice from the Margins | 3.1. Educating healthcare professionals | RDPAGs educate healthcare providers to improve understanding and management of rare diseases. |
| 3.2. Teaching education sector professionals | RDPAGs support school staff in addressing the learning needs of children with rare conditions. | |
| 3.3. Joint training and co-creation of guidelines/resources | RDPAGs collaborate with professionals to co-create practical tools and inclusive standards of care. | |
| 4. Claiming Visibility: Advocacy as Public Education and Systemic Engagement | 4.1. Public awareness campaigns and media outreach | RDPAGs organize public campaigns to raise awareness and reduce stigma around rare diseases. |
| 4.2 Peer-to-peer education between organizations | RDPAGs share resources and strategies with other advocacy organizations to strengthen collective capacity. | |
| 4.3. Institutional education and policy advocacy | RDPAGs participate in policy consultations to influence systemic and legislative reforms in healthcare and education. |
Building on this core theme, the analysis identified three broader domains that reflect the main contexts in which these practices were enacted, as described by participants: (1) supporting and educating patients and families, (2) engaging with professionals and contributing to professional learning, and (3) raising public visibility and participating in policy-oriented advocacy. Together, these themes capture how participants narrated their organizations’ educational and advocacy activities across medical, social, and institutional settings.
Interviewees positioned RDPAGs as knowledge brokers and described an educational mandate focused on providing accurate and up-to-date information to families, healthcare professionals, educators, and the broader public. They emphasized that this role draws on both scientific evidence and lived experience, which leaders framed as enabling reliable, practical guidance. Participants also described advocacy-oriented activities, such as ongoing dialogue with medical professionals and decision-makers, aimed at improving recognition of RDs and addressing the needs of affected families. Across accounts, leaders reported efforts to counter misinformation, raise awareness, and engage institutions across sectors through sustained outreach and collaboration.
Although social support was often perceived as the most visible function of RDPAGs, leaders argued that their educational work is equally central. They emphasized that access to accurate knowledge is not only complementary to psychosocial support but, in their view, a prerequisite for effective care and longer-term empowerment of families.
Leaders also described sustained efforts to bridge awareness gaps across stakeholder groups, including healthcare professionals, educators, and the broader public. Their accounts referred to cooperation with doctors, conference organization, and attempts to strengthen recognition within the medical community, alongside addressing misunderstandings encountered in schools and other institutions.
Participants described a range of practices through which RDPAGs seek to make RD-related knowledge more visible and accessible across communities and institutions. Their accounts emphasized sustained dissemination efforts and public presence, which leaders framed as gradual attempts to influence perceptions and increase recognition among healthcare professionals, educators, and the broader public.
Several participants highlighted how prolonged caregiving experience was perceived as leading to the accumulation of condition-specific expertise. Leaders described this process as driven by necessity, particularly in contexts where formal guidance was limited or unavailable.
Beyond individual expertise, participants described the collective, experience-based knowledge accumulated within RDPAGs as increasingly recognized in interactions with professionals. In their narratives, this recognition was framed as a shift toward more dialogical relationships with medical experts and decision-makers, in which experiential knowledge was positioned alongside scientific evidence.
Participants portrayed RDPAGs as occupying intermediary positions between families, clinicians, and policymakers. They described advocacy activities aimed at translating scientific knowledge into practical guidance for healthcare providers and patients, with the stated goal of improving recognition and understanding of RDs within the medical system.
The metaphor of “ambassadors,” introduced by participants, reflects how some leaders conceptualized their role as mediators between professional and lay domains. At the same time, this metaphor implicitly positions RDPAGs as actors endowed with legitimacy, authority, and recognition, thereby rendering less visible the tensions, limits, or contestations that may accompany such intermediary roles. In these accounts, the knowledge shared was described as both scientific and experiential, shaped by caregiving trajectories, advocacy work, and collaboration with researchers and clinicians.
Participants also reported extending their advocacy beyond professional settings into the broader public sphere. These activities were framed as efforts to raise societal awareness and promote greater openness toward the needs of people living with RDs and their families.
Across interviews, participants described a range of educational and supportive practices directed at families affected by RDs. These practices were framed as responses to uncertainty surrounding diagnosis, care pathways, and everyday caregiving. Leaders spoke about providing factual guidance alongside emotional reassurance, with activities spanning different stages of the illness trajectory, from early informational support following diagnosis to ongoing access to resources, peer mentoring, and community-based interactions. In participants’ accounts, these initiatives were described as shaping how families navigate the practical and emotional challenges of RD caregiving.
When discussing educational activities aimed at parents, participants consistently emphasized the period immediately following diagnosis as particularly challenging. Early-stage informational support was described as focusing on practical and actionable guidance, including lists of recommended specialists, diagnostic pathways, and advice on where to seek further assistance. Leaders framed these efforts as attempts to help families orient themselves within unfamiliar and often overwhelming healthcare systems.
Alongside practical information, participants highlighted the personal and experiential dimension of early support. Experienced caregivers described sharing their own stories and reflections as a way of offering perspective and reassurance to newly diagnosed families. These exchanges were portrayed as addressing not only informational needs but also the emotional impact of diagnosis.
Participants described maintaining curated repositories of information, most commonly in the form of organizational websites or online platforms. These repositories were said to include step-by-step diagnostic and care guidance, lists of recommended specialists and treatment centres, and summaries of current medical knowledge. In participants’ accounts, such resources were developed in response to families’ frequent reliance on fragmented or unverified online information.
Participants framed these materials as tools intended to support families in orienting themselves within complex care systems and making decisions aligned with their individual circumstances, including geographic and financial constraints.
Beyond static materials, participants reported organizing ongoing educational activities such as webinars, conferences, and specialist-led meetings. These initiatives were described as addressing medical developments (e.g., clinical trials), legal and psychosocial issues, and practical life skills, and were often tailored to different audiences, including parents, healthcare professionals, and therapists. Some participants emphasized the importance of continuity and accessibility of these educational resources, noting that recorded materials enabled ongoing access for families who joined the community at later stages.
Peer-to-peer mentoring was repeatedly described as a central educational practice within RDPAGs. Participants portrayed mentoring as facilitating the exchange of experience-based knowledge between families, particularly by connecting newly diagnosed parents with more experienced caregivers. These interactions were framed as spaces for sharing practical strategies, navigating healthcare pathways, and discussing everyday challenges of caregiving.
Participants associated trust within mentoring relationships with shared caregiving experience, including familiarity with specific treatments, dietary practices, and interactions with specialists. Drawing on others’ prior experiences was described as a way of avoiding challenges previously encountered by peers.
Peer interactions occurred in various formats, including one-to-one conversations, online meetings, and closed-group webinars. Participants described these spaces as combining informational exchange with emotional support, extending beyond immediate practical issues to include coping strategies related to diagnosis and long-term caregiving. Some leaders also reported providing ongoing, case-specific advice based on accumulated experiential knowledge.
Participants described community engagement within RDPAGs as involving negotiated expectations around participation and responsibility. Leaders noted tensions between informal participation in online support spaces and formal organizational membership, particularly in relation to sustaining educational and advocacy activities.
These accounts point to internal tensions between expectations of solidarity and the practical demands of sustaining organizational work, suggesting that empowerment within RDPAGs may also involve negotiation, boundary-setting, and moments of frustration. In this context, leaders framed increased involvement, including financial contributions, as necessary for maintaining and expanding organizational activities. These accounts highlight how educational and advocacy work is intertwined with organizational sustainability.
Participants also described deliberate efforts to reframe collective experiences of living with an RD. Leaders spoke about emphasizing positive narratives during meetings, webinars, and campaigns, presenting community engagement as a space for connection and mutual recognition alongside ongoing challenges.
Rather than eliminating hardship, these narratives were described as shaping how members interpret and share their experiences within the community.
Participants consistently framed professional knowledge deficits as a central obstacle to effective care for individuals with RDs across healthcare, education, and related sectors. In their accounts, limited awareness among professionals was associated with delayed diagnoses, constrained access to appropriate interventions, and increased burden on families. Against this background, participants described RDPAGs as assuming educational and mediating roles aimed at addressing perceived gaps in professional knowledge through information provision, dialogue, and collaborative initiatives. These activities were presented as efforts to improve recognition, referral practices, and care coordination across health and education settings.
Participants frequently described encounters with healthcare professionals whom they perceived as lacking familiarity with specific RDs, particularly at the level of primary care and general specialization. According to participants, this limited awareness contributed to delayed referrals, missed opportunities for genetic testing, and frustration for families navigating the diagnostic process. At the same time, participants acknowledged the structural constraints of medical practice, noting that it is unrealistic for individual clinicians to possess detailed knowledge of all rare conditions.
At the same time, participants distinguished between expectations of comprehensive expertise and what they framed as a minimal threshold of recognition and referral competence.
In response to these perceived gaps, participants described RDPAGs as engaging in targeted educational activities aimed at healthcare professionals. These included producing brochures, leaflets, calendars, and printed guides intended to raise awareness of specific conditions and support basic diagnostic and referral processes.
Participants also described initiating direct dialogue with clinicians, drawing on their caregiving experience to supplement biomedical knowledge. While some professionals were described as resistant to parental input, others, particularly physiotherapists and allied health professionals, were portrayed as more open to collaboration. These mixed reactions illustrate that the positioning of RDPAGs as knowledge partners is not uncontested and may depend on professional hierarchies, disciplinary cultures, and perceived boundaries of expertise.
In these accounts, RDPAGs were framed as intermediaries who facilitate communication between families and clinicians by accompanying diagnoses with informational materials and contact details, thereby linking medical care with psychosocial and practical support.
Participants similarly emphasized limited awareness and preparedness among education professionals. Even when diagnoses were formally established, teachers were described as lacking condition-specific knowledge and practical guidance on how to support children with RDs in classroom settings. While participants described that there is a widespread lack of preparation for recognizing and responding to the specific educational needs of children with RDs, they also suggested that children without visible symptoms were often perceived as not needing support, which they associated with inadequate classroom accommodations.
Participants associated these gaps with challenges in securing appropriate educational accommodations, particularly for children whose conditions were not visibly apparent.
In response, participants described RDPAGs as initiating educational activities aimed at schools and educational institutions. These included publishing guides on inclusive education, collaborating with local authorities, and participating in pedagogical experiments. These initiatives were described as aiming at raising awareness and building competencies in working with children affected by RDs within school settings.
Participants also reported engaging with teachers, students, and academic institutions through conferences and research collaborations. While these interactions were described as increasing educators’ interest in RDs and positioning caregivers’ experiential knowledge as a resource for professional learning.
The reported scale of some initiatives was framed as evidence of unmet demand for knowledge among educators.
Participants described involvement in joint training initiatives and the co-creation of practical resources, including clinical guidelines and coordinated care models. These activities were framed as combining international standards with experience-based knowledge derived from caregiving and advocacy work.
Beyond healthcare-specific initiatives, some participants reported engagement in broader policy-oriented projects related to accessibility and disability inclusion. These included developing minimum standards for municipalities and proposing systemic solutions aimed at improving participation and access for people with RDs.
Across these accounts, participants portrayed RDPAGs as operating at the intersection of experiential knowledge, professional practice, and institutional frameworks, seeking to influence how RDs are recognized and addressed within established systems.
Beyond activities directed toward families and professionals in healthcare and education, participants described RDPAGs as engaging in a range of practices aimed at increasing the public visibility of RDs and strengthening their recognition within institutional settings. These practices were framed as forms of public education and systemic engagement, encompassing media campaigns, policy-oriented advocacy, and inter-organizational knowledge exchange. Participants emphasized the strategic use of personal caregiving experience alongside planned communication when engaging decision-makers across multiple levels.
Participants described public awareness campaigns as a key mechanism through which RDPAGs seek to make RDs visible in the public sphere. These initiatives ranged from symbolic actions, such as illuminating public buildings in specific colours, to coordinated nationwide campaigns covered by traditional and online media. According to participants, such activities were intended to stimulate public recognition, foster solidarity, and create opportunities for broader discussion.
Participants also described extending outreach beyond symbolic campaigns by engaging academic, cultural, and artistic platforms. These activities included participation in scientific conferences, organizing popular science events, hosting concerts, and co-creating exhibitions. In participants’ accounts, such initiatives were intended to reach audiences not typically engaged through health-focused advocacy alone.
These accounts position public visibility not only as an outcome but as an ongoing process requiring repeated symbolic, cultural, and educational interventions. However, sustaining such high-visibility activities was occasionally described as resource-intensive and emotionally demanding, particularly for a small number of highly engaged leaders. At the same time, the emphasis on visibility and positivity may obscure less publicly shareable experiences of fatigue, conflict, or marginalization, which were largely absent from leaders’ narratives.
Participants described collaboration with other patient organizations as an important dimension of advocacy and knowledge exchange. Participation in national and international networks was framed as enabling the circulation of strategies, resources, and organizational practices, while also supporting collective visibility within the broader RD field. Some leaders also noted that their organizations aim to inspire other groups to adopt similar approaches and expand their activities.
These collaborations were described as facilitating mutual learning and informal mentorship between organizations with differing levels of experience, capacity, and resources. Participants suggested that showcasing organizational activities to peers served both practical and symbolic purposes, reinforcing a sense of shared movement while encouraging newer groups to expand their activities.
Such accounts emphasize inter-organizational learning as both a pragmatic strategy and a form of collective identity-building within the RD advocacy landscape.
Participants framed institutional education and policy advocacy as responses to persistent gaps in how RDs are recognized and addressed within public systems. Leaders described recurring challenges in disability assessment procedures, where individuals with specific syndromes were perceived as insufficiently impaired to qualify for support.
In response, participants described engaging in activities aimed at educating public officials and influencing policy processes. These included participation in parliamentary committees, public consultations, advisory bodies, and working groups addressing disability and healthcare legislation. Advocacy efforts were presented as combining lived caregiving experience with formal, system-oriented engagement.
Participants also suggested that formal organizational status enables patient associations to contribute to regulatory and reimbursement processes, such as issuing opinions on specific therapies or participating in deliberations within national health technology assessment frameworks.
Across these accounts, advocacy was framed as a form of public and institutional education through which RDPAGs seek to influence how RDs are understood, categorized, and addressed within policy and service delivery systems.
In the absence of accessible information and widespread medical knowledge about rare conditions, this study examined how RDPAGs are positioned, and position themselves, as knowledge brokers, educators, and policy actors within structurally constrained healthcare and education systems. By combining scientific evidence with experience-based insight, participants described how these organizations attempt to bridge critical information gaps for families, healthcare providers, educators, and public institutions. They not only educate caregivers about diagnosis, symptom management, and care coordination but also actively engage in educating healthcare and education professionals, developing joint training initiatives, and co-creating guidelines that integrate clinical standards with practical, family-informed knowledge. Moreover, they extend their influence into the public and institutional spheres through awareness campaigns, inter-organizational collaboration, and policy advocacy aimed at systemic change. The central theme of RDPAGs as “ambassadors of knowledge,” developed from participants’ accounts, captures how these multiple roles are narrated and legitimized by organizations’ representatives. It underpins and connects the three domains in which this role is enacted: education and empowerment of families, collaboration with professionals, and broader public and policy advocacy.
Firstly, participants framed RDPAGs as intermediaries who seek to bridge scientific evidence with experience-based insight, positioning their work as extending beyond the provision of accurate information to families. In their accounts, RDPAGs also educate professionals and institutions, counter misinformation, and advocate for greater systemic recognition of RDs. Through sustained outreach and visibility, leaders described attempts to enhance awareness and responsiveness within healthcare, education, and public services, although the success of these efforts varied across institutional contexts. These findings resonate with a substantial body of international literature describing RD patient organizations as hybrid actors situated between lay experience, biomedical expertise, and institutional governance (
The present findings add nuance by foregrounding how these activities are grounded in embodied, experiential expertise rather than formal professional authority, aligning with STS accounts of the emergence of “lay experts” in medical contexts (
Secondly, participants portrayed RDPAGs as “knowledge hubs” that seek to stabilize uncertainty for families, particularly in the period immediately following diagnosis. They translate expert knowledge into accessible guides, webinars, and conferences, while facilitating peer-to-peer exchange that allows families to draw on others’ experiences and avoid repeating past mistakes. These initiatives were described as strengthening families’ sense of agency and belonging while helping them navigate complex care systems. Comparable patterns have been documented internationally, where patient organizations are shown to compensate for fragmented care and insufficient professional guidance, particularly in RD contexts (
A key outcome of this organizational empowerment is the capacity to produce and disseminate reliable educational resources. Many RDPAGs develop websites, guides, and databases providing information on diseases, treatment options, and expert clinicians, often in collaboration with healthcare professionals, researchers, and industry to ensure accuracy and accessibility (
This dual position, as both affected individuals and knowledge brokers, was particularly evident in how participants described their advocacy work. The metaphor of leaders as “ambassadors” and “advocates” underscores the hybrid nature of their role. Their expertise does not stem from formal training but from personal experience, long-term caregiving, and sustained interaction with healthcare systems. From an STS perspective, this metaphor is analytically productive precisely because it naturalizes authority and representation (
Thirdly, participants framed RDPAGs as intermediaries seeking to address persistent knowledge gaps among primary care physicians, specialists, and educators, gaps linked to diagnostic delays and inadequate educational support. Through resource development, joint training initiatives, and participation in guideline development, RDPAGs were described as contributing to professional learning around timely diagnosis, patient-centred care, and psychosocial dimensions of RDs (
These findings align with broader international evidence showing that insufficient knowledge among healthcare professionals, particularly PCPs, remains a major contributor to diagnostic delays and fragmented care (
Lastly, participants described public awareness campaigns and media engagement as central strategies for increasing societal recognition of RDs and reducing stigma. They also reported involvement in legislative processes, regulatory review, and the co-development of accessibility and care standards with long-term policy implications. International research similarly documents how patient organizations influence public discourse and policy agendas at national and transnational levels (
A significant area of activity involves system-level advocacy—participation in legislative processes, regulatory review, and the co-development of accessibility and care standards with long-term policy implications. This aligns with prior research showing that patient organizations play a key role in shaping public understanding and influencing decision-makers at national, EU, and international levels (
Rather than framing institutional recognition and funding as self-evident solutions, these findings suggest the need for a more reflexive approach that considers how patient-led knowledge production is supported, governed, and potentially constrained once incorporated into formal systems. From this perspective, calls for integration are best understood not as normative demands but as empirically grounded responses to the documented reliance of healthcare and education systems on informal, patient-generated expertise.
Beyond the Polish context, the findings also invite reflection on their potential transferability to other national settings. Although this study is situated within the Polish context, similar configurations of patient-led education, advocacy, and informal knowledge brokerage have been documented internationally, particularly in health systems characterized by limited professional training in RDs and fragmented care pathways (
At the same time, the findings underscore the epistemic significance and the limits of leadership-based perspectives within RD advocacy. As caregivers and organizational representatives, participants occupied a distinctive position at the intersection of lived experience, collective representation, and system-facing engagement. Their accounts illuminate how experiential knowledge is mobilized and legitimized, while also revealing the tensions, exclusions, and asymmetries that shape patient-led advocacy in practice.
This study has several limitations. Firstly, the small sample size, while sufficient for rich and nuanced thematic development, limits broad generalizability. However, participants were purposefully selected for their leadership experience, enabling informed and reflective accounts. Moreover, as a qualitative study, the design prioritizes interpretive depth over numerical representation. Secondly, the predominance of female participants reflects caregiving dynamics in the RD field, where women often assume informal support roles and carry a disproportionate emotional and mental burden. Nevertheless, this gender imbalance limits the inclusion of more diverse perspectives. Thirdly, the online format may have excluded individuals less engaged in digital spaces, thereby introducing sampling bias.
Fourthly, the single-researcher design may also introduce interpretive bias; however, this aligns with the assumptions of RTA, which recognizes the researcher as an active, reflexive co-constructor of meaning. Reflexivity was maintained throughout the study via memo-writing and critical self-reflection to examine how the researcher’s positionality and assumptions informed theme development. Fifthly, the use of remote interviews limited the ability to observe nonverbal cues and emotional nuance. In addition, one participant provided written responses instead of participating in an interview, which may have limited depth and opportunities for probing. However, the impact of this deviation on the analytic process was mitigated by the limited and supplementary role of this material within the overall dataset.
Sixthly, all participants were organizational leaders of RDPAGs. While this enabled informed, strategic, and reflective accounts, this sampling approach may have introduced a positive bias toward advocacy-oriented interpretations of the role, effectiveness, and impact of RDPAGs, as leaders may occupy relatively privileged or empowered positions within their communities. Their narratives, although deeply informed by personal caregiving and advocacy, may have emphasized organizational achievements, strategic goals, visibility, and system-facing success, while offering more limited insight into everyday challenges, conflicts, disengagement, or unmet needs within patient communities experienced by less visible patient members. Additionally, their dual positionality, as both caregivers and organizational representatives, may have shaped how successes, challenges, and limitations were framed. Future research would benefit from incorporating the perspectives of other stakeholders, including non-leadership patient members, healthcare providers, educators, and policymakers, to triangulate these findings and add further nuance to the understanding of the educational and advocacy roles of RDPAGs, as well as their internal power dynamics, inequalities between patient organizations, and the potential unintended consequences of informal, patient-led knowledge production. Accordingly, the findings should be interpreted as leadership-informed and advocacy-oriented accounts, rather than as exhaustive or representative descriptions of experiences within the broader RD community. Future research should more explicitly examine internal power dynamics, inequalities between patient organizations, and the potential risks and unintended consequences of informal, patient-led knowledge production. These dimensions could not be fully explored within the scope of the present leadership-based study. Lastly, this article reports findings from a single analytic strand, the educational and informational roles of RDPAGs, drawn from a broader study. Other dimensions of patient-led activity, such as emotional support and structural advocacy, will be explored in subsequent analyses.
Despite these limitations, the study fills an important gap in the Polish literature by examining how RDPAGs contribute to RD education and advocacy. The diversity of organizations represented, the richness of narrative accounts, and transparent reporting aligned with COREQ guidelines enhance the credibility and trustworthiness of the findings. Importantly, this research amplifies the voices of those shaping support communities while also highlighting the negotiated, contingent, and sometimes costly nature of patient-led knowledge work.
This study examined how leaders of RDPAGs in Poland described their educational and advocacy roles within healthcare, education, and policy contexts characterized by limited formal knowledge about RDs. Participants portrayed RDPAGs as actors who translate experiential and scientific knowledge into practical guidance, support families following diagnosis, engage with professionals, and seek to raise public and institutional awareness of RDs.
The findings indicate that, in the absence of comprehensive and coordinated institutional frameworks, healthcare and education systems in Poland already rely substantially on the informal educational and advocacy work of RDPAGs. At the same time, participants’ accounts highlight that these roles are often performed without stable funding, formal recognition, or clearly defined boundaries, and may involve uneven organizational burdens and risks of overextension.
Rather than framing institutional recognition and support as self-evident solutions, this study suggests that closer attention is needed to how patient-led educational and advocacy activities are sustained, governed, and integrated into formal systems. From this perspective, collaboration with RDPAGs may offer important opportunities to address persistent knowledge gaps in RD care, provided that such collaboration is approached reflexively and with sensitivity to issues of sustainability, representation, and role negotiation.
By foregrounding leadership-based perspectives, this study contributes to a growing international literature on patient-led knowledge production and advocacy in RD contexts. While the findings are grounded in the Polish setting, they offer analytically transferable insights into how patient organizations function as informal knowledge brokers across health, education, and policy domains.
Participants’ accounts point to several areas where current reliance on RDPAGs could be made more sustainable, including more structured cross-sector collaboration with professionals, greater stability of funding for educational and support activities, and clearer mechanisms for incorporating experiential knowledge into policy and legislative processes.
The raw data supporting the conclusions of this article will be made available by the authors, without undue reservation.
The research followed the ethical principles outlined in the Declaration of Helsinki (
JD: Conceptualization, Data curation, Formal analysis, Investigation, Methodology, Project administration, Resources, Software, Supervision, Validation, Visualization, Writing – original draft, Writing – review & editing.
The author thanks all the study participants who consented to discuss their viewpoints and personal experiences during the interviews and participated in the present study.
The author(s) declared that this work was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
The author(s) declared that Generative AI was not used in the creation of this manuscript.
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EU, European Union; RD, rare disease; PCP, primary care physicians; RDPAGs, rare disease patient advocacy groups.