Communication Needs for Individuals With Rare Diseases Within and Around the Healthcare System of Northern Ireland

Abstract

Objective: 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. Methods: 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. Results: 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. Conclusions: 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).

Rare Disease Research Partnership (RAinDRoP): a collaborative approach to identify research priorities for rare diseases in Ireland

“…Accurate and timely diagnosis is essential for early recognition of rare genetic disease and management preventive life- long impairments, which means the newborn screening programme to be uniformly applied to across the European member states to offer equal quality of care and service for every child born in Europe 25 , 26 . (3) Education and training were identified as the third research priority, and this is consistent with recent studies 28 , 29 and highlighted the need for providing accessible education and training for families and the community. Those studies have reported the requisite for primary care physician’s knowledge and understanding of rare diseases and the need to create information sessions for professionals and students.…”

A scoping review and proposed workflow for multi-omic rare disease research

“…Furthermore, there is a need for discussion on ensuring the data we generate is publicly available, whilst protecting patient confidentiality, to enable large scale collaborative efforts, a phenomenon which would be particularly helpful for diagnosing currently undiagnosed patients. Such a discussion and development of resources should involve continuous consultation with patients and their family members [16,153].…”

“…For example, a national survey of rare disease patients and carers in Northern Ireland showed that 63% of participants reported attending multiple doctors with 7% reporting management by greater than 10 doctors [14]. The nature of typical patient confidentiality can make essential communication between healthcare teams difficult, particularly with care across multiple centres and when accessing external specialist centres of excellence, thus leading to further delays in the diagnosis of a rare disease and fragmented patient care [4, 15,16].…”

Topic Modeling and User Network Analysis on Twitter during World Lupus Awareness Day

“…Despite this lack of deep investigation of the social media interaction phenomenon for this complex rheumatic disease, patient associations, healthcare communities, blog pages, and patients are active on social media in order to seek information and increase awareness among the general public. In most cases, patients use these channels for emotional and peer health support [ 12 , 13 ], often searching for new treatments or healthcare decision suggestions [ 14 ].…”