Co-developing an Online Rare Disease Carer Support Tool in Northern Ireland (RD-CaST-NI)

背景：罕见疾病是一种严重的终生疾病，无法治愈。每17人中就有一人感染罕见疾病。大约三分之一患有罕见疾病的儿童会在5岁生日之前死亡。在英国和爱尔兰，患有罕见疾病的人和患有糖尿病的人一样多，但罕见疾病得到的认可和支持要少得多。北爱尔兰有超过11万人受到一种罕见疾病的影响。帮助患有罕见疾病的人是英国政策制定者的当务之急。然而，对那些为那些被诊断出患有一种罕见疾病的人提供护理的人给予的关注较少。许多照顾者全天候照顾某个人(S)，很少或根本没有喘息的机会。罕见疾病可能会在家庭中传播，因此护理人员可能会支持不止一个人。照顾者不必要的压力会导致心理和身体健康状况不佳，使他们更难帮助他人。患者和照顾者在以下情况下面临困难：a)寻求罕见疾病的诊断(在NI，做出准确诊断的平均等待时间为5年)；b)寻找有效的治疗方法(90%或更多的罕见疾病没有得到批准的治疗或药物)；或c)搜索信息(许多医生不了解个别罕见疾病，并表示寻找准确的信息是有问题的)。患有罕见疾病的照顾者可能会在取暖或医疗设备等方面经历高额的自付费用。一些照顾者不能经常工作，而不是承担照顾的角色。照顾者经常报告地理和/或社会孤立。与其他照顾者见面可以提供支持，并促进分享经验和信息，但面对面的会面可能是具有挑战性的。虽然在线资源可以提供帮助，但很少有资源是从强有力的证据或护理人员的投入中开发出来的。罕见疾病支持组织可以提供帮助，但他们资金不足，通常专注于被诊断患有罕见疾病的人。应当地罕见病社区的要求，我们将与护理人员合作开发一种针对NI的在线支持工具。项目概述：与患有罕见疾病的人的护理人员合作，我们将共同开发北爱尔兰在线罕见疾病护理人员支持工具(RD-CAST-NI)。这将有助于支持照顾者，增加他们的幸福感和韧性。RD_CAST-NI将指示照顾者使用相关服务，并帮助加强他们的声音，突出良好做法和未得到满足的需求。我们将共同提供强有力的证据，支持政策和做法的变化，以更好地支持整个NI的照顾者。我们将与广泛的罕见病护理人员合作，确保这款RD_CAST-NI工具满足儿童、成人和/或患有罕见疾病的多个家庭成员的护理人员的需求(S)。在之前研究的基础上，我们将与护理人员合作，帮助设计资源，并主办一个研讨会，了解护理人员在这个RD_CAST-NI工具中会发现什么是有帮助的。我们将采访护理人员，听取他们关于生活的相关故事，以及他们在这个在线资源中想要什么，以完善这个工具。将包括一系列视频，与照顾者分享他们关于所请求主题的生活经验。我们还将制作更多的视频，为支持和服务的照顾者提供建议和标志。不同的护理团体将在开发该工具时对其进行评估，并提供反馈以改进下一个版本。我们在这个项目中所学到的将有助于为NI卫生部22/23年度罕见疾病行动计划中提议的信息中心制定专门的护理人员要素。我们希望，如果该工具被证明是有用的，RD_CAST-NI将成为一个可持续的首选资源，以支持整个NI地区患有罕见疾病的人的护理人员。

Background: Rare diseases are serious, lifelong conditions that have no cure. Rare diseases affect one in every 17 persons. Approximately one-third of children with a rare disease will die before their 5th birthday. In the UK and Ireland as many people live with rare diseases as live with diabetes, yet rare diseases receive much less recognition and support. More than 110,000 people across Northern Ireland are affected by a rare disease. Helping people living with a rare disease is an urgent priority for policymakers in the UK. However, less focus has been placed on people who provide care for those diagnosed with a rare disease. Many carers look after someone(s) 24/7 with little or no respite. Rare diseases can run in families so carers may be supporting more than one person. Unnecessary stress on carers can lead to poor mental and physical health, making it harder for them to help others. Patients and carers face difficulties when: a) seeking a rare disease diagnosis (in NI the average wait time for an accurate diagnosis is 5 years); b) looking for an effective treatment (90% or more rare diseases have no approved therapy or medication); or c) searching for information (many doctors do not know about individual rare diseases and say that finding accurate information is problematic). Carers for people with a rare disease may experience high out-of-pocket costs for heating or medical equipment etc. Some carers cannot regularly work beyond their caring role. Carers often report geographical and / or social isolation. Meeting other carers can provide support and facilitate sharing experiences and information, but meeting in person can be challenging. While online resources can help, few are developed from strong evidence or with input from carers. Rare disease support groups can help, but they are underfunded and typically focus on people diagnosed with a rare disease. In response to requests from our local rare disease community, we will work with carers to develop an online support tool for NI. Project Overview: Working with carers of people with a rare disease, we will co-develop an online Rare Disease Carer Support Tool in Northern Ireland (RD-CaST-NI). This will help support carers, increasing their well-being and resilience. RD_CaST-NI will signpost carers to relevant services and help strengthen their voice, highlighting good practices and unmet needs. Together we will provide robust evidence to support changes to policy and practice to better support carers across NI. We will partner with a wide range of rare disease carers to ensure this RD_CaST-NI tool meets the needs of carers of children, adults, and / or multiple family members with rare disease(s). Building on previous research, we will work with carers to help design the resource and host a workshop to learn what carers would find helpful within this RD_CaST-NI tool. We will interview carers to hear relevant stories about their lives and what they want in this online resource to refine the tool. A range of videos with carers sharing their lived experiences about requested topics will be included. We will also create additional videos providing advice and signposting carers to supports and services. Different groups of carers will evaluate the tool as it develops and provide feedback to improve the next version. What we learn in this project will help inform the development of a dedicated carer element for the information hub proposed in the NI Department of Health rare disease action plan 22/23. We hope, if the tool proves useful, RD_CaST-NI will become a sustainable go-to resource to support carers of people with a rare disease across NI.