Abstract
Introduction:A rare disease affects <1/2,000 persons, with >6,000 rare diseases identified. In Northern Ireland (NI), ~1/17 individuals are affected by rare disease(s). A key objective in The UK Strategy for Rare Diseases (https://tinyurl.com/ukRDstrategy) and the NI Implementation Plan for Rare Diseases is to, ‘empower those affected by rare diseases’. One aspect of this theme focuses on the, ‘availability of relevant information which is provided to individuals to make them aware of the choices available to them and to help them to take balanced decisions. Another aspect is to show that their views are important and to provide suitable mechanisms for engagement’ (https://tinyurl.com/NIRDIP2015). Methods:Five independently facilitated workshops (~15 attendees each; geographically distributed across NI) and an online survey (235 responses) were conducted Jan 2017 – June 2017 to ascertain how, when, and where individuals affected by rare diseases seek and find information about rare disease(s). These resources were co-developed by the Department of Health, Public Health Agency, NIRDP, Ulster University and Queen’s University Belfast. A subsequent “Emerging Findings” seminar considered results with >40 clinicians and policy makers. A systematic review of published literature was performed to explore the latest research relating to social media, online communication, and rare diseases. Results:The majority of participants had sustained experience living with rare disease(s), were female, aged 35-54, British/Irish, and lived in NI. Common themes were established, including problems accessing relevant support and information. Patients, their families, and carers described comprehension and technical issues. The most common source of information accessed by individuals before diagnosis, when newly diagnosed, after diagnosis, and by health or social care professionals was an internet search. Discussion:Two-thirds of participants prioritised accessing information about rare diseases in NI from a single website, individual, or coordinating organisation. Many people had unanswered questions about their specific condition, and did not necessarily know how or where to retrieve that information, particularly struggling during long waits for diagnosis. Respondents accessed support groups, but described often feeling isolated in Northern Ireland. Additional surveys and interviews are ongoing to provide a solid evidence base, which may collaboratively drive forward local rare disease policy.
Original language | English |
---|---|
Publication status | Accepted - 2017 |
Event | 1st European Alliance for Personalised Medicine Congress: Personalising Your Health: A Global Imperative! - Belfast, United Kingdom Duration: 27 Nov 2017 → 30 Nov 2017 http://eapmbelfast2017.com/ |
Conference
Conference | 1st European Alliance for Personalised Medicine Congress |
---|---|
Country/Territory | United Kingdom |
City | Belfast |
Period | 27/11/2017 → 30/11/2017 |
Internet address |