JMIR Publications

ABSTRACT

Background:

Rare diseases are often chronic and complex, affecting physical, mental and neurological health. People with rare diseases face challenges such as delayed diagnosis, limited medical support and financial burden. Caregivers, usually family members, bear significant physical and emotional burdens. Understanding the experiences of rare disease patients and their caregivers is critical to effective care, but this is still under-researched. Better support and understanding of the challenges faced by both patients and caregivers is clearly needed. Our study will explore the experiences and needs of people with rare diseases and caregivers of people with rare diseases in relation to accessing health services.

Objective:

To explore the experiences of rare disease patients and their caregivers with Slovenian healthcare providers and to create a theoretical model of needs and experiences.

Methods:

The study will conduct semi-open-ended interviews to understand the experiences and needs of people with rare diseases and caregivers of people with rare diseases in relation to accessing health services. The interview questions will be based on an extensive literature review. Data from the interviews will be analysed using thematic analysis to identify patterns and build a theoretical model. Data will be analysed by at least two coders and intercoder reliability will be measured. To ensure reliability, respondent validation will be conducted and negative cases investigated. Any discrepancies will be resolved by consulting the entire research team until a consensus is reached.

Results:

Preliminary findings from the literature review suggest that the quality of life of caregivers of people with rare diseases, especially women, is significantly reduced. Challenges in accessing healthcare, including information gaps and misdiagnosis, are key factors. Informal discussions with representatives of rare disease associations revealed additional challenges, including the need for psychological support, palliative care for children and concerns about the attitudes of health professionals, communication, respite care, stigma, delays in diagnosis and availability of information. This study, approved by the Medical Ethics Committee of the Republic of Slovenia (reference: 0120-47/2022/3), is planned to start recruiting participants on 1/12/2023. The results of the data analysis are expected by 30.12.2024.

Conclusions:

The study aims to identify support needs and best practises to contribute to better health care planning. It also aims to identify neglected areas that have a significant impact on the lives of people with rare diseases. As this perspective has not yet been explored in Slovenia, the study will provide unique insights. The results can inform patient-centred policies, address gaps in support, promote research on rare diseases and improve care and support. These findings can also serve as a basis for the development of guidelines for integrated care for rare diseases in Slovenia.