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

背景：罕见病是严重的，终身的条件，没有治愈。每17人中就有1人患有罕见疾病。大约三分之一患有罕见疾病的儿童将在5岁生日前死亡。在英国和爱尔兰，患罕见病的人和患糖尿病的人一样多，但罕见病得到的认可和支持要少得多。北方爱尔兰有超过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，对那些为被诊断患有罕见疾病的人提供护理的人关注较少。许多照顾者照顾某人（S）24/7很少或没有喘息。罕见疾病可以在家庭中传播，因此护理人员可能需要支持不止一个人。对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。患者和护理人员在以下情况下面临困难：a）寻求罕见病诊断（在NI，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%或更多的罕见病没有批准的治疗或药物）;或c）搜索信息（许多医生不了解个别罕见病，并表示找到准确的信息是有问题的）。罕见疾病患者的护理人员可能会在取暖或医疗设备等方面经历高昂的自付费用，有些护理人员无法定期工作，超出其护理职责。照顾者经常报告地理和/或社会孤立。与其他照顾者会面可以提供支持，并促进分享经验和信息，但亲自会面可能具有挑战性。虽然在线资源可以提供帮助，但很少有强有力的证据或照顾者的投入。罕见疾病支持团体可以提供帮助，但他们资金不足，通常专注于被诊断患有罕见疾病的人。为了回应当地罕见病社区的要求，我们将与护理人员合作，为NI开发一个在线支持工具。 项目概述：我们将与罕见病患者的护理人员合作，共同开发北方爱尔兰的在线罕见病护理人员支持工具（RD-CAST-NI）。这将有助于支持照顾者，提高他们的福祉和复原力。RD_Cast-NI将为照顾者提供相关服务，并帮助加强他们的声音，突出良好做法和未满足的需求。我们将共同提供强有力的证据，以支持政策和实践的变化，以更好地支持整个NI的护理人员。我们将与广泛的罕见病护理人员合作，以确保此RD_Cast-NI工具满足患有罕见病的儿童，成人和/或多个家庭成员的护理人员的需求。在以前研究的基础上，我们将与护理人员合作，帮助设计资源，并举办研讨会，了解护理人员在此RD_Cast-NI工具中会发现哪些帮助。我们将采访护理人员，听取有关他们生活的相关故事，以及他们在这个在线资源中想要什么，以完善该工具。一系列的视频与照顾者分享他们的生活经验有关的主题将被包括在内。我们还将创建更多的视频，提供建议和路标照顾者的支持和服务。不同的护理人员团体将评估该工具，因为它的发展和提供反馈，以改善下一个版本。我们在这个项目中所学到的将有助于为NI卫生部罕见疾病行动计划22/23中提出的信息中心提供专门的护理人员元素。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资源，以支持整个NI的罕见疾病患者的护理人员。

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.