Stakeholder perceptions of complementary and alternative medicine from people living with rare diseases in Northern Ireland.

INTRODUCTION: Only five percent of rare diseases have an orthodox modern medicine treatment available, therefore patients often utilise complementary and alternative medicines (CAMs) to help manage their condition. Several CAMs are supported by scientific evidence as effective for aiding management of rare diseases, however the methodological rigour of published literature may be sub-optimal and it can be difficult to show that an outcome is a direct result of the CAM intervention. Patients and healthcare professionals must weigh up the safety, efficacy, practical logistics, and financial implications of utilising CAMs for rare diseases. This study aimed to elucidate perspectives of stakeholders, (individuals with rare diseases, carers, family members, CAMs practitioners and healthcare professionals) on the usage of CAMs for rare diseases across Northern Ireland. METHODS: An online survey was open January - February 2019 (n = 29 responses). Themes identified from the survey were then discussed with stakeholders in a semi-structured discussion workshop in March, 2019. RESULTS: Patients with rare diseases reported CAMs as effective in the management of their condition, in particular acupuncture, dietary supplements, herbal medicines, homeopathy, hydrotherapy / swimming, kinesiology, mindfulness, pilates, reflexology, tai chi, and yoga. In this study, seven survey respondents experienced a negative side effect from CAMs. Workshop participants raised the lack of information available about CAMs and rare disease. Both the survey and workshop identified inequality of access with participants reporting CAMs to be expensive and expressing a desire for more therapies to be available within the United Kingdom (UK) National Healthcare Service (NHS). CONCLUSIONS: Many patients with rare diseases report that CAMs are helpful in the management of their condition. More information, high quality research, and education about CAMs is required for patients and healthcare professionals to help make informed decisions about the usage of CAMs for rare diseases. Improved communication, information, and health and social care in general would help individuals be more confident and knowledgeable about therapeutic options in relation to their rare disease(s).

Carer reported experiences: Supporting someone with a rare disease.

This exploratory study aimed to gain an understanding of carer reported experiences derived specifically from persons caring for someone with a rare disease. The survey took place online on the SmartSurvey platform from November 2019 to January 2020. The facilitated workshop took place in Bangor Carnegie Library, Northern Ireland. To be eligible to participate in the online survey respondents had to be adults caring for someone with a rare disease. Fifty-seven respondents took part, 15.8% male, 84.2% female. Thirty-two attendees were part of the facilitated workshop. While carers reported several positive aspects of their caring role, the majority of comments highlighted challenges such as sub-optimal interactions with healthcare professionals, insufficient (or absent) emotional, psychological and social support, lack of financial support and lack of awareness of existing support services. It is important that strategies are put in place to ensure that carers are given the time they need to care for themselves, and that awareness is raised of what support options are available for carers of people with a rare disease(s) from health and social care providers, charities or support groups.

A Formative Study of the Implementation of Whole Genome Sequencing in Northern Ireland.

Background: The UK 100,000 Genomes Project was a transformational research project which facilitated whole genome sequencing (WGS) diagnostics for rare diseases. We evaluated experiences of introducing WGS in Northern Ireland, providing recommendations for future projects. Methods: This formative evaluation included (1) an appraisal of the logistics of implementing and delivering WGS, (2) a survey of participant self-reported views and experiences, (3) semi-structured interviews with healthcare staff as key informants who were involved in the delivery of WGS and (4) a workshop discussion about interprofessional collaboration with respect to molecular diagnostics. Results: We engaged with >400 participants, with detailed reflections obtained from 74 participants including patients, caregivers, key National Health Service (NHS) informants, and researchers (patient survey n = 42; semi-structured interviews n = 19; attendees of the discussion workshop n = 13). Overarching themes included the need to improve rare disease awareness, education, and support services, as well as interprofessional collaboration being central to an effective, mainstreamed molecular diagnostic service. Conclusions: Recommendations for streamlining precision medicine for patients with rare diseases include administrative improvements (e.g., streamlining of the consent process), educational improvements (e.g., rare disease training provided from undergraduate to postgraduate education alongside genomics training for non-genetic specialists) and analytical improvements (e.g., multidisciplinary collaboration and improved computational infrastructure).

Evaluating the impact of COVID-19 on rare disease support groups.

OBJECTIVES: The impact of the current COVID-19 pandemic has been felt worldwide. Many vulnerable populations rely heavily on peer support provided by individual or collaborative groups. This study aimed to evaluate the impact of COVID-19 on groups supporting patients with a rare disease(s). Anecdotally the current pandemic significantly changed the way in which these groups operate and the services they can provide. DATA DESCRIPTION: A targeted survey was conducted online with rare disease individual or collaborative groups. The results of the survey highlight the challenges individual and collaborative groups are facing during this pandemic and help to identify what support should be put in place to enable them to sustain their much-valued service through these trialing times. Groups have experienced an increase in calls to their helplines as well as followers to their websites and social media feeds. Groups are no longer meeting in person and so online meetings, webinars and zoom chats have become a regular occurrence. Fundraising was highlighted as an area of concern for such groups. It is hoped that this data might be used to highlight the support individual and collaborative groups require while also raising awareness of the value they bring to many.

Improvements needed to support people living and working with a rare disease in Northern Ireland: current rare disease support perceived as inadequate.

BACKGROUND: Many people living and working with rare diseases describe consistent difficulties accessing appropriate information and support. In this study an evaluation of the awareness of rare diseases, alongside related information and educational resources available for patients, their families and healthcare professionals, was conducted in 2018-2019 using an online survey and semi-structured interviews with rare disease collaborative groups (charities, voluntary and community groups) active across Northern Ireland (NI). METHODS: This study had 2 stages. Stage 1 was an online survey and stage 2 involved semi-structured interviews both with rare disease collaborative groups in Northern Ireland. The surveys and interviews were used to locate existing resources as well as identify gaps where the development of further resources would be appropriate. RESULTS: Ninety-nine rare disease collaborative groups engaged with the survey with 31 providing detailed answers. Resources such as information, communication, 'registries', online services, training and improvements to support services were queried. Excellent communication is an important factor in delivering good rare disease support. Training for health professionals was also highlighted as an essential element of improving support for those with a rare disease to ensure they approach people with these unique and challenging diseases in an appropriate way. Carers were mentioned several times throughout the study; it is often felt they are overlooked in rare disease research and more support should be in place for them. Current care/support for those with a rare disease was highlighted as inadequate. Nine semi-structured interviews were conducted with rare disease collaborative groups. Reoccurring themes included a need for more effective information and communication, training for health professionals, online presence, support for carers, and involvement in research. CONCLUSIONS: All rare disease collaborative groups agreed that current services for people living and working with a rare disease are not adequate. An important finding to consider in future research within the rare disease field is the inclusion of carers perceptions and experiences in studies. This research provides insight into the support available for rare diseases across Northern Ireland, highlights unmet needs, and suggests approaches to improve rare disease support.

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

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).