Good communication is critical to supporting people living and working with a rare disease: 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). Results Ninety-nine participants engaged with the survey with 31 respondents 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. Due to the unique role a carer has in the life of a person with a rare disease it is vital that their voice is heard and their needs are listened to. This research provides insight into the support available for rare diseases across Northern Ireland, highlights unmet needs in service provision, and suggests approaches to improve rare disease support prioritising improved information and communication provision, improved access to services, and tailored support for carers of people with a rare disease. Keywords Collaboratives groups; communication; Northern Ireland; online; rare disease semi-structured interview; social media; support; survey


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Resources such as information, communication, 'registries', online services, training and improvements 31 to support services were queried. Excellent communication is an important factor in delivering good 32 rare disease support. Training for health professionals was also highlighted as an essential element of 33 improving support for those with a rare disease to ensure they approach people with these unique and 34 challenging diseases in an appropriate way. Carers were mentioned several times throughout the 35 study; it is often felt they are overlooked in rare disease research and more support should be in place 36 for them. Current care/support for those with a rare disease was highlighted as inadequate. Nine In Europe, diseases that affect less than 1 in 2000 individuals are considered 'rare' [1]. Collectively 57 rare diseases are a major public health issue affecting approximately 300 million people globally and 58 ~110,000 individuals across Northern Ireland (NI) [2,3]. The role of healthcare professionals is made 59 . CC-BY-NC-ND 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity.

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The copyright holder for this preprint this version posted May 25, 2020. Partnership [18][19][20]. It is interesting to note the difference between the support available for those with 87 a rare disease compared to those with other conditions. For example, those with cancer or heart 88 conditions have access to a wide range of support [21,22] which receive much greater national funding 89 . CC-BY-NC-ND 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity.

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18% were based in Northern Ireland, two were registered in the Republic of Ireland and two were from 117 the United States of America. Groups ranged from providing support in the last two years to more than 118 50 years experience as a collaborative group. The majority of group representatives completing the 119 . CC-BY-NC-ND 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. (which was not certified by peer review) The copyright holder for this preprint this version posted May 25, 2020.   Thirty-eight percent of the groups organise training days for healthcare professionals in specific 177 disciplines such as physiotherapists, occupational therapists, hospice staff; some also support 178 members by organising unofficial talks and training for schools, teachers and families. Three groups 179 . CC-BY-NC-ND 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity.  CC-BY-NC-ND 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity.

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The copyright holder for this preprint this version posted May 25, 2020. Most groups have a helpline that ranges from an answering service on a mobile phone to a 9 am -5 237 pm manned telephone. The helplines are mainly used for supporting those who are newly diagnosed 238 . CC-BY-NC-ND 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity.

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The copyright holder for this preprint this version posted May 25, 2020. . https://doi.org/10.1101/2020.05.22.20110056 doi: medRxiv preprint 9 when they feel they have nowhere to turn or to signpost people to other means of help. Most groups 239 reported that initial contact from rare disease patients was normally via social media or email rather 240 than the phone line.

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Difficulties were highlighted by many groups regarding meeting to communicate in person with someone 243 living with a rare disease, for example at a conference or support group. This is thought to be due to 244 the nature of the disease and geographical boundaries that can inhibit an individual's chance to attend. The participant below explained that carers are involved with such a highly intensive care routine that 297 they struggle to find time to attend support groups.

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The copyright holder for this preprint this version posted May 25, 2020.  Another group said they provide a variety of training for health professionals, from large regional or 333 national events with lots of multidisciplinary teams, to events on a much smaller scale with local teams.

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They also hold a health care professionals day each year to raise their awareness and help them to 335 realise that although a rare disease is often considered 'specialised' the ongoing processes and  CC-BY-NC-ND 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity.

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The copyright holder for this preprint this version posted May 25, 2020. Several 'novel' ideas were suggested by the groups as ways to improve or enhance the services already 405 available for those living with a rare disease. These included an app to enable patients to better manage 406 their condition, an online map which links to health professionals/support in a specific geographical 407 area, training on practical issues that are relevant across many rare diseases, the opportunity to join 408 conferences/events remotely and a 'rare disease community'. An interesting point was made by one 409 group that individuals may not know they have a 'rare disease' as this terminology may not have been 410 used to describe their condition making it more difficult for them to find appropriate support.

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This study aimed to evaluate rare disease resources in Northern Ireland and to identify important issues 414 for local development. Little research has been conducted to date reviewing dedicated support 415 available for people with a rare disease and to date no one has reviewed group resources for those 416 . CC-BY-NC-ND 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity.

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The majority of groups in the current study expressed their desire for a rare disease registry to be 429 established in NI. The disconnect between the health service and groups was mentioned and it was 430 suggested that a registry may help the health service to be more responsive to rare disease patient's 431 needs. The development of rare disease registries is growing which is remarkable given the scarcity of 432 patients [28]. A rare disease registry could be a powerful tool for rare disease patients, enabling long-433 term outcomes to be measured and ultimately improving care [29].

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Carers for individuals with a rare disease were frequently discussed -the main issue being that carers 500 are regularly overlooked and yet they often need support just as much as the person with the rare 501 disease that they are caring for. Living with a rare disease often involves many appointments and can 502 include travelling long distances to see specialists or receive treatments and so daily routine can be 503 disrupted for families [39]. This is particularly challenging in the era of COVID-19 as all hotels and 504 accommodation options within the UK are closed to everyone except NHS staff; families who normally 505 stay overnight for complex and / or tiring treatments are unable to do so, thus compromising care and 506 . CC-BY-NC-ND 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity.

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The copyright holder for this preprint this version posted May 25, 2020. . https://doi.org/10.1101/2020.05.22.20110056 doi: medRxiv preprint raising inequalities for those living geographically further from treatment centres [40]. For parents of 507 children with a rare disease, balancing daily life with caring is a frequent problem and often carers 508 neglect their own needs [41]. It is therefore important as this study suggests that strategies and support 509 are put in place for carers. Little support is currently provided specifically for carers, it is important that 510 these individuals are not overlooked. peer support from other parents of children with rare diseases were a key resource for parents when 530 navigating the health care system. Social media was seen as the best way for these people to connect, 531 giving the best availability [43]. A research study focusing on carers alone would be beneficial for this 532 cohort to identify their needs and how they can be best supported in this challenging role.

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Current care/support for those with a rare disease is not adequate.

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The copyright holder for this preprint this version posted May 25, 2020.  Communication is key for rare disease support groups, it is important that communication is both 588 accessible to all and is reciprocated from health professionals. All groups were interested in 589 collaborating and therefore improving lines of communication and enabling opportunities for 590 collaboration could help greatly in developing and improving services. There were also pleas for a local 591 rare disease 'registry'. Social media was used widely within the groups that were part of this study 592 although it was noted that various difficulties can arise when trying to maintain these accounts. Every 593 group made suggestions as to how they feel services and support could be improved for those with a 594 rare disease, many of these ideas centred on communication as well as increasing resources. The fact 595 . CC-BY-NC-ND 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity.

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In this study data were collected from a relatively small population group but findings may be applicable 621 for a wider population due to the common challenges and specific needs of those with a rare disease.

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The study had two stages: 624 625 . CC-BY-NC-ND 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity.

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Semi-structured interviews were chosen for this study as they allow the interviewer to conduct the 658 conversation using their own words and are most commonly associated with the collection of qualitative 659 social data when the researcher is interested in people's experience [58,59]. An interview schedule 660 was used which helps the researcher to conduct the interview by outlining what will be explored while 661 allowing flexibility for details that are unique to each participant [60]. As there have been few previous 662 qualitative studies undertaken in this area, the interview schedule was designed specifically for this 663 study with the aim and objectives guiding the questions with input from the NIRDP.

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. CC-BY-NC-ND 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. (which was not certified by peer review) The copyright holder for this preprint this version posted May 25, 2020. . https://doi.org/10.1101/2020.05.22.20110056 doi: medRxiv preprint . CC-BY-NC-ND 4.0 International license It is made available under a is the author/funder, who has granted medRxiv a license to display the preprint in perpetuity. (which was not certified by peer review) The copyright holder for this preprint this version posted May 25, 2020. . https://doi.org/10.1101/2020.05.22.20110056 doi: medRxiv preprint