Widener University, School of Nursing, University Place, Chester, PA, USA.
J Neurosci Nurs. 2010 Jun;42(3):157-68.
Huntington's disease (HD) is a progressive neurogenetic disorder that has a 50% inheritance rate. The ability to have 100% confirmation of the illness became a reality with the discovery of the gene in 1993. The effect of confirmatory testing and the issues faced by the individual and the family facing diagnosis have not been addressed. The purpose of this research study was to explore the meaning of being diagnosed with HD using narrative inquiry. Ten participants, during the first year of diagnosis, were asked to tell their story of what it meant to be diagnosed with HD. A holistic-content approach was used for data analysis. An integrated narrative, "The Story of HD: Ripples From a Stone Skipping Across the Lake," was created from the stories. The stories were analyzed for plot, predicaments, protagonist, and antagonist. The predicaments of "discovering the existence of HD," "confirming the diagnosis of HD," "revealing the diagnosis to others," and "experiencing the reverberations of HD" served as the main chapters that formed the structure of the stories. Each predicament contains a set of themes that function as subheadings for the chapters. In the final chapter or epilogue, participants were asked to reflect on the meaning of being diagnosed with HD. The psychological impact of receiving a positive genetic diagnosis has implications for patients and their extended families. Nurses should develop their understanding of the role of genetics in healthcare today. Clinical evaluations of the effectiveness of treatments and assessment for changes in mood, behavior, and motor function are an essential part of nursing care. Advocacy and supportive roles must be incorporated into the patient visit. Patient education material on home safety, nutrition, medication management, and general health practices should be provided during the outpatient visits. Through the development of a more comprehensive role, the nurse can assist patients and families in finding the personal meaning of being diagnosed.
亨廷顿病（HD）是一种进行性神经遗传疾病，遗传率为 50%。随着 1993 年该基因的发现，能够 100%确认疾病成为现实。但是，确认性测试的效果以及面临诊断的个人和家庭所面临的问题尚未得到解决。本研究旨在通过叙事探究探索被诊断患有 HD 的意义。在诊断后的第一年，有 10 名参与者被要求讲述他们被诊断患有 HD 的经历。采用整体内容分析方法进行数据分析。从故事中创建了一个综合叙述，即“HD 的故事：石头在湖上跳跃的涟漪”。对故事进行情节，困境，主角和反派分析。“发现 HD 的存在”，“确认 HD 的诊断”，“向他人透露诊断”和“体验 HD 的影响”等困境构成了故事的主要章节。每个困境都包含一组主题，作为章节的副标题。在最后一章或后记中，要求参与者反思被诊断患有 HD 的意义。接受阳性遗传诊断的心理影响对患者及其扩展家庭具有重要意义。护士应增强对当今医疗保健中遗传学作用的理解。临床评估治疗效果以及对情绪，行为和运动功能变化的评估是护理的重要组成部分。必须将倡导和支持作用纳入患者就诊中。在门诊就诊期间，应为患者提供有关家庭安全，营养，药物管理和一般健康实践的患者教育材料。通过发展更全面的角色，护士可以帮助患者及其家人找到被诊断的个人意义。
