Adolescents with rare diseases and their families navigate challenges that extend well beyond clinical symptoms, intersecting with educational, social, and structural constraints. In this qualitative study, we examined the lived experiences of adolescents with rare conditions, their caregivers, and healthcare professionals, focusing on the interpersonal and systemic factors that shape well-being and form care pathways within the Greek National Healthcare System (NHS). A constructed interpretive framework for this study integrates ecological, dialogical, and relational dimensions of rare disease experiences. Ten focus groups were conducted, each including two adolescents, two parents, one to two pediatricians and one allied health professional (physiotherapist, speech therapist, occupational therapist, nurse). Semi-structured group interviews were audio-recorded, transcribed verbatim and analyzed using the approach of qualitative content analysis. Adherence to the COREQ-32 criteria supported the systematic design, documentation and presentation of research findings. Analysis yielded eight themes: (a) family dynamics and caregiving burden, (b) educational and occupational challenges, (c) social participation and financial strain, (d) healthcare accessibility and effectiveness, (e) conflicting priorities among adolescents, caregivers and providers, (f) future planning and goal setting, (g) emotional strain as a shared burden, and (h) parental advocacy and activism. Conclusions: Rare disease experience emerges from the interplay of structural conditions, relational processes and policy dynamics. Ecological forces shape daily life, while dialogical interactions influence how illness is understood and managed and power relations determine whose perspectives are prioritized. Despite these constraints, adolescents, families and healthcare personnel demonstrate resilience and agency, mobilizing resources and developing networks to navigate difficulties within the available healthcare settings.<Table Float="No" ID="Taba"> <tgroup cols="1"> <colspec align="left" colname="c1" colnum="1" /> <tbody> <row> <entry align="left" colname="c1"> What is Known: • Adolescent care for rare diseases is often fragmented, adult-oriented, and insufficiently responsive to young people’s social, educational, and familial realities. • Young people’s lived experiences and meaning-making around rare disease care remain insufficiently explored in research and practice. </entry> </row> <row> <entry align="left" colname="c1"> What is New: • An integrated adolescent care framework combines ecological context, dialogical construction of meaning, and critical reflexivity to center adolescents’ voices and include the lived experiences of both families and therapists. • Through qualitative study, these concepts are translated into preliminary suggestions, offering an approach for more equitable, youth-friendly care situated in the Greek National Healthcare System. </entry> </row> </tbody> </tgroup> </Table>

The rare disease tree: adolescent voices, family narratives, and health professionals’ views in Greece

期刊论文
发表日期：

2026年6月25日

查看全文

Pelagia Tsitsani,
Elpidoforos S. Soteriades

摘要

Adolescents with rare diseases and their families navigate challenges that extend well beyond clinical symptoms, intersecting with educational, social, and structural constraints. In this qualitative study, we examined the lived experiences of adolescents with rare conditions, their caregivers, and healthcare professionals, focusing on the interpersonal and systemic factors that shape well-being and form care pathways within the Greek National Healthcare System (NHS). A constructed interpretive framework for this study integrates ecological, dialogical, and relational dimensions of rare disease experiences. Ten focus groups were conducted, each including two adolescents, two parents, one to two pediatricians and one allied health professional (physiotherapist, speech therapist, occupational therapist, nurse). Semi-structured group interviews were audio-recorded, transcribed verbatim and analyzed using the approach of qualitative content analysis. Adherence to the COREQ-32 criteria supported the systematic design, documentation and presentation of research findings. Analysis yielded eight themes: (a) family dynamics and caregiving burden, (b) educational and occupational challenges, (c) social participation and financial strain, (d) healthcare accessibility and effectiveness, (e) conflicting priorities among adolescents, caregivers and providers, (f) future planning and goal setting, (g) emotional strain as a shared burden, and (h) parental advocacy and activism.

Conclusions: Rare disease experience emerges from the interplay of structural conditions, relational processes and policy dynamics. Ecological forces shape daily life, while dialogical interactions influence how illness is understood and managed and power relations determine whose perspectives are prioritized. Despite these constraints, adolescents, families and healthcare personnel demonstrate resilience and agency, mobilizing resources and developing networks to navigate difficulties within the available healthcare settings.

What is Known:

• Adolescent care for rare diseases is often fragmented, adult-oriented, and insufficiently responsive to young people’s social, educational, and familial realities.

• Young people’s lived experiences and meaning-making around rare disease care remain insufficiently explored in research and practice.

What is New:

• An integrated adolescent care framework combines ecological context, dialogical construction of meaning, and critical reflexivity to center adolescents’ voices and include the lived experiences of both families and therapists.

• Through qualitative study, these concepts are translated into preliminary suggestions, offering an approach for more equitable, youth-friendly care situated in the Greek National Healthcare System.