Palliative Care Needs of Children with Rare Diseases and their Families

罕见疾病是指影响不到20万人的疾病。儿科罕见病患者 死亡率很高，30%的人活不到5岁生日。家庭可能会被要求 复杂的医疗决定儿科提前护理计划包括准备和技能 帮助做出未来的医疗选择。患有罕见疾病的儿童是一种异质性的 这一群体往往患有合并症，导致他们被排除在研究之外，从而造成健康差距 为这些弱势群体。现有的关于罕见疾病儿童家庭的研究缺乏科学严谨性。 虽然迫切需要，但很少有经过经验验证的干预措施来解决这些问题。我们 我建议填补我们对不同儿童群体的家庭需要支持的认识方面的空白 罕见疾病;并测试预先护理计划干预。FAMILY CENTRED（FACE）儿科 先进的护理规划干预，证明成功的癌症和艾滋病毒，是适合有孩子的家庭 患有罕见疾病的人PI、里昂及其同事在理论上提供了信息并进行了开发， 干预将使用尊重选择下一步儿科预先护理计划™， 儿童无法参与医疗决策。我们与患有罕见疾病的儿童家庭的协商 疾病和国家罕见疾病组织（诺德）透露，基本的姑息治疗需要 在进行预先护理计划干预之前，应首先解决这些问题。为了使这项研究能够满足这一要求， 根据要求，所有随机分配到干预措施的家庭将首先完成护理人员支持需求评估 工具（CSNAT）©，我们的研究团队将其改编用于儿科。在CSNAT方法中， 评估护理人员的优先姑息治疗需求，并制定姑息治疗支持的共同行动计划。 因此，我们提出了一种创新的3期FACE-Rare干预，整合了两种基于证据的 接近。我们将使用科学严谨的意向治疗，单盲， 随机对照试验设计。将家庭/儿童对或二人组（N=30二人组）随机分配至FACE-Rare （CSNAT课程1和2加上尊重选择课程3）或对照组（治疗作为治疗）。两 团体将收到姑息治疗信息。所有家庭将在基线和3- 个月随访。研究者将评估FACE-Rare对家庭生活质量的初步疗效 （心理学，精神学）。我们将评估宗教信仰和照顾者评价如何影响家庭质量 生命我们也将探讨儿童在研究期间的医疗服务利用和家庭满意度。 如果这个试点试验的目标得以实现，未来的大规模多地点试验将测试完整的理论模型， 通过家庭参与的儿科高级护理，改善罕见疾病儿童及其家庭的护理 规划最终目标是最大限度地减少家庭照顾者的痛苦，提高他们的生活质量。 患有罕见疾病的儿童;并通过这一过程改善其儿童的姑息治疗。

A rare disease is a condition affecting fewer than 200,000 persons. Pediatric patients with rare diseases experience high mortality with 30% not living to see their 5th birthday. Families are likely to be asked to make complex medical decisions for their child. Pediatric advance care planning involves preparation and skill development to help make future medical care choices. Children with rare disorders are a heterogeneous group often with co-morbidities, resulting in their exclusion from research, thereby creating a health disparity for this vulnerable population. Available research on families of children with rare diseases lacks scientific rigor. Although desperately needed, there are few empirically validated interventions to address these issues. We propose to close a gap in our knowledge of families' needs for support in a heterogeneous group of children with rare diseases; and to test an advance care planning intervention. The FAmily CEntered (FACE) pediatric advance care planning intervention, proven successful with cancer and HIV, is adapted to families with children who have rare diseases. Theoretically informed and developed by the PI, Lyon, and colleagues, the proposed intervention will use Respecting Choices Next Steps Pediatric Advance Care Planning™ for families whose child is unable to participate in health care decision-making. Our consultation with families of children with rare disorders and the National Organization for Rare Disorders (NORD) revealed that basic palliative care needs should be addressed first, before an advance care planning intervention. For the study to be able to meet this request, all families randomized to the intervention will first complete the Carer Support Needs Assessment Tool (CSNAT)© which our investigative team adapted for use in pediatrics. In the CSNAT Approach, facilitators assess caregivers' prioritized palliative care needs and develop Shared Action Plans for palliative care support. Thus, we propose an innovative 3-session FACE-Rare intervention, integrating two evidence-based approaches. We will evaluate FACE-Rare using a scientifically rigorous intent-to-treat, single-blinded, randomized controlled trial design. Family/child pairs or dyads (N=30 dyads) will be randomized to FACE-Rare (CSNAT Sessions 1 & 2 plus Respecting Choices Sessions 3) or control (Treatment As Usual) groups. Both groups will receive palliative care information. All families will complete questionnaires at baseline and 3- months follow-up. Investigators will evaluate the initial efficacy of FACE-Rare on family quality of life (psychological, spiritual). We will estimate how religiousness and caregiver appraisal influence families' quality of life. We will also explore health care utilization by the children during the study and family satisfaction. If the aims of this pilot trial are achieved, a future, large, multi-site trial will test the full theoretical model to improve care for children with rare diseases and their families through family engaged pediatric Advance Care Planning. The ultimate goal is to minimize suffering and enhance the quality of life of family caregivers of children with rare diseases; and through this process to improve the palliative care of their children.