Locke Jessica D, Eastman Jason T
Independent Researcher, Myrtle Beach, SC, USA.
Coastal Carolina University, Conway, SC, USA.
Discov Ment Health. 2025 Aug 17;5(1):123. doi: 10.1007/s44192-025-00268-5.
Living with a rare disorder, such as Ehlers-Danlos Syndrome (EDS), presents unique psychosocial challenges. This autobiographical case study explores the psychological, social, and professional impacts of navigating life with hypermobile EDS (hEDS), a condition marked by chronic pain, joint instability, and diagnostic uncertainty. Placing personal experiences into the context of clinical findings and research, this study highlights both the physical and emotional toll of the syndrome, including stigma, isolation, and medical gaslighting often accompanying rare conditions. The first-person case study of the first author extracted by the second author experienced in qualitative interviewing provides a first-hand account of the importance of addressing the psychosocial dimensions of rare disorders to foster understanding, empathy, and systemic improvements in patient care. In addition to calls for more encompassing medical care, this work also advocates for increased access to psychosocial support and recognition of the broader implications of living with rare, often invisible conditions.
患有诸如埃勒斯-当洛综合征（EDS）这样的罕见疾病会带来独特的心理社会挑战。本自传体案例研究探讨了患有高活动型EDS（hEDS）的生活在心理、社会和职业方面的影响，这种疾病的特征是慢性疼痛、关节不稳定以及诊断不确定性。将个人经历置于临床发现和研究的背景下，本研究突出了该综合征在身体和情感上造成的损害，包括罕见疾病常伴随的耻辱感、孤立感以及医疗误导。第二作者通过定性访谈提取的第一作者的第一人称案例研究，提供了一个第一手的描述，说明了应对罕见疾病心理社会层面问题对于促进理解、同理心以及改善患者护理体系的重要性。除了呼吁提供更全面的医疗护理外，这项工作还倡导增加获得心理社会支持的机会，并认识到患有罕见且往往难以察觉的疾病所带来的更广泛影响。
