Pharmaceutical Services Programme, Hospital Tuanku Ja'afar Seremban, Ministry of Health Malaysia, Malaysia.
Discipline of Social and Administrative Pharmacy, School of Pharmaceutical Sciences, Universiti Sains Malaysia, Penang, Malaysia.
Int J Technol Assess Health Care. 2024 Oct 24;40(1):e34. doi: 10.1017/S0266462324000333.
The management of rare diseases is rarely addressed among policymakers and public communities. It is hindered by the lack of information on its epidemiology and burden, especially from the perspective of patients and families with rare diseases. This study aims to understand the perceptions of rare disease patients and their families in the management of rare diseases in Malaysia.
A qualitative interview was used to explore the perceptions of patients and families regarding the management of rare diseases in Malaysia. In-depth interviews were conducted with the rare disease patients or their parents/guardians provided by three major rare disease advocacy groups, between 1 July and 15 September 2016. The interviews focused on two key areas: the challenges associated with rare disease and the issues related to accessing medication.
Out of the nineteen recruited participants, seventeen (89.5 percent) completed the interview sessions. The significance of awareness, knowledge, and support from others emerged as crucial for families and patients living with rare diseases. Despite facing delayed diagnosis and treatment, a majority of patients and parents expressed satisfaction with the advancements in rare disease management. Nevertheless, a prominent challenge revolves around access to enzyme replacement therapy for eligible patients.
This study emphasizes the importance of healthcare professionals understanding patient with rare diseases perceptions to tailor communication strategies, provide accurate information, and address concerns effectively. The message underscores the significance of collaboration between healthcare providers and patient support groups to deliver adequate health information, potentially enhancing patients' understanding and their illness perceptions.
政策制定者和公众群体很少关注罕见病的管理。这是由于缺乏关于其流行病学和负担的信息，尤其是来自罕见病患者和家庭的信息。本研究旨在了解马来西亚罕见病患者及其家庭对罕见病管理的看法。
采用定性访谈的方法，探讨了患者及其家属对马来西亚罕见病管理的看法。2016 年 7 月 1 日至 9 月 15 日期间，从三个主要的罕见病倡导团体中招募了罕见病患者或其父母/监护人，对其进行了深入访谈。访谈重点关注两个关键领域：与罕见病相关的挑战以及与获得药物相关的问题。
在招募的 19 名参与者中，有 17 名（89.5％）完成了访谈。对于患有罕见病的家庭和患者来说，意识、知识和他人支持的重要性至关重要。尽管面临延迟诊断和治疗，但大多数患者和家长对罕见病管理的进步表示满意。然而，一个突出的挑战是，符合条件的患者获得酶替代疗法的机会有限。
本研究强调了医疗保健专业人员了解罕见病患者看法的重要性，以便制定沟通策略、提供准确的信息，并有效地解决患者的担忧。该研究结果强调了医疗保健提供者与患者支持团体之间合作的重要性，以提供充分的健康信息，从而提高患者的理解能力和对疾病的认识。
