Crowe Ashleen L, McKnight Amy Jayne, McAneney Helen
Centre for Public Health, School of Medicine, Dentistry and Biomedical Sciences, Queen's University Belfast, Belfast, United Kingdom.
Front Public Health. 2019 Aug 21;7:236. doi: 10.3389/fpubh.2019.00236. eCollection 2019.
By definition a rare disease affects fewer than 1 in 2,000 people but collectively 1 in 17 people are affected at some time in their lives. Rare disease patients often describe feeling isolated and unsupported. The needs of individuals living with rare disease(s) are not well met globally and have not been specifically explored in Northern Ireland. An online survey was conducted in spring of 2017, focused on information and communication needs, to identify overarching themes. Databases were searched to place responses in an international context. There were 240 survey respondents with four overarching themes identified: sources of information; medical care; rare disease community; and public awareness. Thirty relevant papers resulted from the literature search. A coordinated and transparent approach for improved medical care is needed where researchers, practitioners, and policy makers work with patients, carers, and rare disease advocates to ensure a fully considered rare disease strategy is implemented. In line with that developed by many other countries, a physical or virtual Northern Ireland reference network or center of excellence for rare diseases would provide an important strategic link. Sustainable funding, resources for rare disease charities, and more cross-border working would help build a local rare disease community. Major challenges highlighted include finding the right health and social care information. The internet was the most regularly accessed, and perceived as the easiest way, to source information on rare disease. Improved signposting to accredited information, ideally by the creation of a locally relevant online information hub, a local rare disease registry that can integrate with international systems, a local rare disease coordinator, and improving public awareness are urgent needs. Aligned to internationally reported outcomes, practical issues for future development based on the voices of individuals living, and working with a rare condition are described. It is essential that ongoing research evaluates changes to ensure that the best possible structures and mechanisms are put in place to improve communication and information systems for those affected by a rare condition(s).
根据定义，罕见病影响的人数少于两千分之一，但总体而言，每十七人中就有一人在生命中的某个时刻受到影响。罕见病患者常常感到孤立无援。全球范围内，罕见病患者的需求并未得到充分满足，在北爱尔兰也未得到专门研究。2017年春季开展了一项在线调查，重点关注信息和沟通需求，以确定总体主题。通过检索数据库，将调查结果置于国际背景下进行考量。共有240名受访者参与调查，确定了四个总体主题：信息来源、医疗护理、罕见病群体以及公众认知。文献检索得出30篇相关论文。需要一种协调且透明的方法来改善医疗护理，研究人员、从业者和政策制定者应与患者、护理人员及罕见病倡导者合作，以确保实施全面考虑的罕见病战略。与许多其他国家类似，建立一个实体或虚拟的北爱尔兰罕见病参考网络或卓越中心将提供重要的战略联系。可持续的资金、对罕见病慈善机构的资源支持以及更多的跨境合作将有助于建立当地的罕见病群体。突出的主要挑战包括获取正确的健康和社会护理信息。互联网是获取罕见病信息最常使用且被认为最便捷的途径。迫切需要改善指向经认可信息的指引，理想方式是创建一个与当地相关的在线信息中心、一个可与国际系统整合的当地罕见病登记处、一名当地罕见病协调员，并提高公众认知。结合国际报告的成果，描述了基于罕见病患者及其工作伙伴的意见对未来发展的实际问题。持续的研究评估变化至关重要，以确保建立最佳的结构和机制，改善针对罕见病患者的沟通和信息系统。
