Making life better: improving health and care for individuals living with rare diseases

Research output: Contribution to conferenceAbstract


Introduction: Rare diseases are a significant public health concern. At least 1/17 individuals in Northern Ireland are affected by a rare disease and there is currently no cohesive structure developed specifically to help this group of individuals. Traditionally, severely ill patients are guided by medical practitioners in healthcare decision making, however it is increasingly common that patients with rare diseases will become ‘expert patients’ due to a lack of local expertise for rare conditions.
This is a worldwide problem, which has implications for local healthcare policy.

Methods: Invitations were circulated via social media, voluntary groups, online, and direct emails to individuals who have previously contributed to rare disease research studies. These results are based on two collaborative surveys in 2014, one a simple online survey including results from 112 individuals, and the other a narrative-based approach with 91 respondents, both of which explored ‘Living Every Day with (a) Rare Disease’.

Results: The majority of respondents were females, over the age of 30 years, and included individuals living with rare disease(s) themselves, family members and carers. More than half of respondents had more than 10 GP/practice nurse appointments in the past year, with the majority attending more than 10 consultant/specialist medical appointments in the past five years; some respondents attended more than 40 consultations, while some had no expert contact. Only 36% of individuals felt they were strongly involved in planning their medical care, with 56% describing accessing expert medical care as difficult. Approximately one-third of individuals waited up to five years for an accurate diagnosis with 10% waiting more than 10 years; half received at least one misdiagnosis. More than half of the stories were self-described as having negative emotional intensity. Insufficient expertise of local healthcare providers in highly specialised treatment options for rare diseases is a major problem; respondents felt that primarily doctors, allied health professionals, nurses and politicians should be made aware of these patient views in that order.

Discussion: This data collection has provided important information to help identify and prioritise changes for individuals living with rare diseases in NI. Strategies should be developed to improve the diagnostic process, strengthen collaborative partnerships using a whole system framework, and enhance communication and coordination of care for individuals living with rare diseases. Improved strategies for data collection, information sharing, alongside training and network opportunities would be beneficial. This may enable affected individuals and families to maximise their health and wellbeing, whilst streamlining health and social care, which may lead to substantial financial savings
Original languageEnglish
Publication statusPublished - 10 Jun 2015
EventNorthern Ireland 4th Public Health Annual Scientific Conference - Riddel Hall, Belfast, United Kingdom
Duration: 10 Jun 2015 → … (Link to event details online)


ConferenceNorthern Ireland 4th Public Health Annual Scientific Conference
Country/TerritoryUnited Kingdom
Period10/06/2015 → …
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