Palliative Care Needs of Children with Rare Diseases and their Families

一种罕见的疾病是指影响不到20万人的疾病。儿科罕见病患者 经历高死亡率，30%的人活不到5岁生日。家庭很可能会被要求制作 为他们的孩子做出复杂的医疗决定。儿科提前护理计划涉及准备和技能 发展，以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 群体往往患有共病，导致他们被排除在研究之外，从而造成健康差距 对于这群脆弱的人群。对罕见疾病儿童家庭的现有研究缺乏科学严谨性。 尽管迫切需要，但几乎没有经过经验验证的干预措施来解决这些问题。我们 建议弥合我们对家庭对异类儿童群体的支持需求的了解差距 罕见疾病；并测试提前护理计划干预。以家庭为中心(面子)的儿科 先进的护理计划干预被证明在癌症和艾滋病毒方面取得了成功，适用于有孩子的家庭 患有罕见疾病的人。由PI、Lyon和同事从理论上了解和开发的建议 干预措施将为以下家庭使用尊重选择下一步儿科高级护理计划™ 儿童无法参与医疗保健决策。我们与罕见疾病儿童的家庭进行咨询 精神障碍和国家罕见疾病组织(NORD)透露，基本的姑息治疗需要 应该首先解决，然后再进行提前护理计划干预。为了让这项研究能够满足这一要求 要求，所有随机参加干预的家庭将首先完成照顾者支持需求评估 我们的调查团队对该工具(CSNAT)进行了调整，以用于儿科。在CSNAT方法中，促进者 评估照顾者优先的姑息治疗需求，并为姑息治疗支持制定共同的行动计划。 因此，我们提出了一种创新的三次面孔-罕见干预，整合了两种基于证据的干预 接近了。我们将使用科学严谨的意向治疗、单盲、 随机对照试验设计。家庭/儿童配对或二元体(N=30个二元体)将随机分配到面对面-罕见 (CSNAT会议1和2加上尊重选择会议3)或对照组(照常治疗)。两者都有 团体将收到姑息治疗信息。所有家庭将在基线上完成问卷调查，3- 几个月的随访。研究人员将评估Face-Rare对家庭生活质量的初步疗效 (心理上、精神上)。我们将评估宗教信仰和照顾者评价如何影响家庭质量 生活的一部分。我们还将调查儿童在学习期间的卫生保健利用情况和家庭满意度。 如果这项试点试验的目标得以实现，未来的大型多点试验将检验完整的理论模型 通过家庭参与的儿科高级护理改善对罕见疾病儿童及其家人的护理 计划。最终目标是将痛苦降至最低，并提高儿童家庭照顾者的生活质量 通过这一进程，改善对儿童的姑息治疗。

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.