Tasman Oncology Research, Southport, Queensland, Australia.
Department of Clinical Genetics, Royal North Shore Hospital, St Leonards, New South Wales, Australia.
Am J Med Genet A. 2021 Jan;185(1):105-111. doi: 10.1002/ajmg.a.61920. Epub 2020 Oct 16.
The journey to receiving a diagnosis for rare genetic disease can be long and emotionally impactful. This study describes parental experiences of receiving their child's diagnosis of Rubinstein-Taybi syndrome (RTS), a rare genetic condition characterized by growth and developmental delay together with dysmorphic features. Parents from the RTS Australia support group participated in qualitative, semi-structured phone interviews, which were transcribed verbatim and thematically analyzed. Questions focused on psychosocial challenges and benefits pre and post-diagnosis. Ten mothers and three fathers participated, with the mean age of diagnosis being 8 months. Parents reported positive psychological effects from a slight delay in diagnosis, and negative effects from an extended diagnostic delay, suggesting the ideal time for a parent to receive a diagnosis lies in the post attachment stage, prior to the development of significant parental concerns. This stage would vary depending on condition severity. Parents desired a diagnosis to reduce uncertainty; however, uncertainty remained post diagnosis, and shifted its focus from broadly encompassing etiology and prognosis, to specifically focusing on concerns regarding severity within the spectrum. Perceived benefits of a diagnosis mainly centered on the provision of a label. Parents articulated that a label increased social acceptance, enhanced coping, promoted communication, and improved access to medical, financial, and support services. This study provides insights into the experience of families prior to and following receipt of a diagnosis. It also highlights the possibility of an optimal time window to receive a diagnosis; in which bonding is maximized and parental distress is minimized.
获得罕见遗传疾病诊断的过程可能漫长而令人情绪受创。本研究描述了父母在接受孩子患有 Rubinstein-Taybi 综合征（RTS）诊断时的经历，RTS 是一种罕见的遗传疾病，其特征是生长和发育迟缓以及畸形特征。来自 RTS 澳大利亚支持小组的父母参加了定性、半结构化电话访谈，访谈内容逐字转录并进行了主题分析。问题集中在诊断前和诊断后的心理社会挑战和益处上。共有 10 位母亲和 3 位父亲参与，平均诊断年龄为 8 个月。父母报告说，诊断稍晚有积极的心理影响，而诊断时间延长则有负面影响，这表明父母接受诊断的理想时间是在依恋阶段之后，在出现重大父母担忧之前。这个阶段会因病情严重程度而异。父母希望通过诊断来减少不确定性；然而，诊断后仍存在不确定性，其重点从广泛涵盖病因和预后，转变为具体关注谱系内的严重程度问题。诊断带来的好处主要集中在提供一个标签上。父母表示，标签增加了社会接受度，增强了应对能力，促进了沟通，并改善了医疗、财务和支持服务的获取。本研究深入了解了家庭在获得诊断前后的经历。它还强调了获得诊断的最佳时间窗口的可能性；在这个时间窗口中，亲子关系最大化，父母的痛苦最小化。
