PDF(Pubmed)
Abstract：
Primary ciliary dyskinesia (PCD) is a rare, chronic genetic condition with variable features arising from motile cilia dysfunction, including recurrent respiratory infections, sinonasal disease, reduced hearing, infertility and situs inversus. The aim of the study was to understand the experiences of young people with PCD as they transition into adulthood and adult healthcare services. An interpretative phenomenological analytical method was applied. Semi-structured interviews were conducted with three participants aged 18-24 years. Four interconnected group experiential themes were identified: (1) reconceptualising a stigmatised identity, (2) sharing the journey to independence, (3) entering adulthood with newfound autonomy, (4) anticipating an uncertain future. Overall, we found that transition for young people with PCD presents as a complex period marked by identity-formation, creating systems of support and becoming an autonomous adult. Facilitation of personalised and integrated approaches to care should be prioritised. Our findings are important to help health professionals provide appropriate, anticipatory support.
摘要：
原发性纤毛运动障碍（PCD）是一种罕见的，由活动纤毛功能障碍引起的具有可变特征的慢性遗传状况，包括反复呼吸道感染,鼻窦疾病,听力降低,不育和坐位倒置。该研究的目的是了解PCD年轻人过渡到成年和成人医疗保健服务的经历。采用了解释现象学分析方法。对三名18-24岁的参与者进行了半结构化访谈。确定了四个相互关联的小组体验主题：（1）重新概念化污名化的身份，（2）分享独立之旅，（3）以新发现的自主性进入成年，（4）预测不确定的未来。总的来说,我们发现，对于患有PCD的年轻人来说，过渡是一个以身份形成为标志的复杂时期，建立支持系统，成为一个自主的成年人。应优先考虑促进个性化和综合护理方法。我们的发现对于帮助卫生专业人员提供适当的，预期支持。
