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.

中文翻译：

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在鲁宾斯坦-塔比等待诊断：从“无知是幸福”到“标签”价值的旅程

诊断出罕见的遗传病的过程可能会很漫长，而且会在情感上产生影响。这项研究描述了父母接受孩子诊断为鲁宾斯坦-泰比综合症（RTS）的经历，该病是一种罕见的遗传病，其特征是生长和发育延迟以及畸形。澳大利亚RTS支持小组的父母参加了定性，半结构化的电话采访，逐字记录并进行专题分析。问题集中于心理社会挑战以及诊断前后的益处。十名母亲和三名父亲参加了会议，平均诊断年龄为8个月。父母报告说，轻微的诊断延迟会带来积极的心理影响，而诊断延迟会带来负面的影响，这表明父母在接受重大父母关注之前，接受诊断的理想时间是在依恋阶段。此阶段将根据条件的严重程度而有所不同。父母希望进行诊断以减少不确定性。但是，不确定性在诊断后仍然存在，并将其重点从广泛的病因和预后转移到特别关注频谱范围内的严重性。诊断的感知优势主要集中在提供标签上。父母明确表示，标签可以增加社会认可度，增强应对能力，促进沟通并改善医疗，财务和支持服务的获取。这项研究提供了有关在诊断之前和之后的家庭经历的见解。它还强调了获得诊断的最佳时间窗口的可能性；其中最大程度地提高了亲密感，并使父母的痛苦最小化。它还强调了获得诊断的最佳时间窗口的可能性；其中最大程度地提高了亲密感，并使父母的痛苦最小化。它还强调了获得诊断的最佳时间窗口的可能性；其中最大程度地提高了亲密感，并使父母的痛苦最小化。