PDF(Pubmed)
Abstract：
Rare diseases in Europe are defined as diseases with a prevalence of less than 5 per 10,000 people. Despite their individual rarity, the total number of rare diseases is considerable. 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 patients with rare disease and their caregivers is critical to effective care, but this is still underresearched. 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.
This study aims to explore the experiences of patients with rare disease and their caregivers with Slovenian health care providers and to create a theoretical model of needs and experiences.
This is a qualitative thematic analysis study, using the codebook approach. 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 analyzed using thematic analysis to identify patterns and build a thematic map. Data will be analyzed by at least 2 coders. 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.
This study was not specifically funded. However, author TČ is supported by grant number P3-0339 from the Slovenian Agency for Research and Innovation. This study was approved by the Medical Ethics Committee of the Republic of Slovenia (0120-47/2022/3), and recruitment is expected to begin in May 2024, with data analysis results anticipated by the end of 2025.
This study will fill an important research gap in Slovenia by exploring the needs and experiences of people living with rare diseases and their caregivers. The results will contribute to the broader field of rare diseases and add knowledge that can inform future research processes and intervention strategies. It also aims to identify neglected areas that have a significant impact on the lives of people with rare diseases. This study is important not only because it addresses the immediate needs of the Slovenian rare disease community, but also because it contributes to a discussion on patient-centered care, health policy design, and the inclusion of psychosocial components in health care.
PRR1-10.2196/53362.
This study aims to explore the experiences of patients with rare disease and their caregivers with Slovenian health care providers and to create a theoretical model of needs and experiences.
This is a qualitative thematic analysis study, using the codebook approach. 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 analyzed using thematic analysis to identify patterns and build a thematic map. Data will be analyzed by at least 2 coders. 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.
This study was not specifically funded. However, author TČ is supported by grant number P3-0339 from the Slovenian Agency for Research and Innovation. This study was approved by the Medical Ethics Committee of the Republic of Slovenia (0120-47/2022/3), and recruitment is expected to begin in May 2024, with data analysis results anticipated by the end of 2025.
This study will fill an important research gap in Slovenia by exploring the needs and experiences of people living with rare diseases and their caregivers. The results will contribute to the broader field of rare diseases and add knowledge that can inform future research processes and intervention strategies. It also aims to identify neglected areas that have a significant impact on the lives of people with rare diseases. This study is important not only because it addresses the immediate needs of the Slovenian rare disease community, but also because it contributes to a discussion on patient-centered care, health policy design, and the inclusion of psychosocial components in health care.
PRR1-10.2196/53362.
摘要：
背景：欧洲的罕见疾病被定义为患病率低于每10,000人中5人的疾病。尽管他们个人罕见，罕见疾病的总数相当大。罕见疾病通常是慢性和复杂的，影响身体，心理，和神经健康。患有罕见疾病的人面临着诸如延迟诊断等挑战，有限的医疗支持，和财政负担。看护者,通常是家庭成员，承担重大的身体和情感负担。了解罕见疾病患者及其护理人员的经历对有效护理至关重要，但这仍然是研究不足。显然需要更好的支持和理解患者和护理人员所面临的挑战。我们的研究将探讨罕见疾病患者和罕见疾病患者的护理人员在获得医疗服务方面的经验和需求。
目的：本研究旨在探索罕见疾病患者及其护理人员与斯洛文尼亚医疗保健提供者的经验，并创建需求和经验的理论模型。
方法：这是一个定性的主题分析研究，使用码本方法。该研究将进行半开放式访谈，以了解罕见病患者和罕见病患者的护理人员在获得医疗服务方面的经历和需求。面试问题将基于广泛的文献综述。将使用主题分析对访谈中的数据进行分析，以确定模式并构建主题图。数据将由至少2位编码器进行分析。为了确保可靠性，将进行受访者验证，并调查阴性病例。任何差异将通过咨询整个研究团队来解决，直到达成共识。
结果：本研究未获得特别资助。然而,作者T-由斯洛文尼亚研究与创新机构的批准号P3-0339支持。本研究获得斯洛文尼亚共和国医学伦理委员会（0120-47/2022/3）的批准，和招聘预计将于2024年5月开始，数据分析结果预计将于2025年底。
结论：这项研究将通过探索罕见疾病患者及其照顾者的需求和经验来填补斯洛文尼亚的重要研究空白。这些结果将有助于更广泛的罕见疾病领域，并增加可以为未来研究过程和干预策略提供信息的知识。它还旨在确定对罕见疾病患者生活产生重大影响的被忽视领域。这项研究很重要，不仅因为它解决了斯洛文尼亚罕见疾病社区的迫切需求，还因为它有助于讨论以患者为中心的护理，卫生政策设计，以及在医疗保健中纳入社会心理成分。
■PRR1-10.2196/53362。
目的：本研究旨在探索罕见疾病患者及其护理人员与斯洛文尼亚医疗保健提供者的经验，并创建需求和经验的理论模型。
方法：这是一个定性的主题分析研究，使用码本方法。该研究将进行半开放式访谈，以了解罕见病患者和罕见病患者的护理人员在获得医疗服务方面的经历和需求。面试问题将基于广泛的文献综述。将使用主题分析对访谈中的数据进行分析，以确定模式并构建主题图。数据将由至少2位编码器进行分析。为了确保可靠性，将进行受访者验证，并调查阴性病例。任何差异将通过咨询整个研究团队来解决，直到达成共识。
结果：本研究未获得特别资助。然而,作者T-由斯洛文尼亚研究与创新机构的批准号P3-0339支持。本研究获得斯洛文尼亚共和国医学伦理委员会（0120-47/2022/3）的批准，和招聘预计将于2024年5月开始，数据分析结果预计将于2025年底。
结论：这项研究将通过探索罕见疾病患者及其照顾者的需求和经验来填补斯洛文尼亚的重要研究空白。这些结果将有助于更广泛的罕见疾病领域，并增加可以为未来研究过程和干预策略提供信息的知识。它还旨在确定对罕见疾病患者生活产生重大影响的被忽视领域。这项研究很重要，不仅因为它解决了斯洛文尼亚罕见疾病社区的迫切需求，还因为它有助于讨论以患者为中心的护理，卫生政策设计，以及在医疗保健中纳入社会心理成分。
■PRR1-10.2196/53362。
