Medical Sciences Division, University of Oxford, Oxford, UK.
Orphanet J Rare Dis. 2023 Mar 6;18(1):45. doi: 10.1186/s13023-023-02648-y.
When we experience symptoms, most of us walk into the clinic or hospital expecting immediate answers. For individuals with a rare condition, the path to diagnosis can be tortuous, involving months to years of waiting and a seemingly interminable search for answers. All this while, physical and psychological stress can negatively impact mental health. Each diagnostic journey is unique, but they epitomise common themes and inadequacies of the medical system. This article presents the stories of two sisters whose diagnostic journeys diverged then converged, reflecting on the impact of these experiences on mental well-being and what we can learn going forward. Hopefully, with more research and knowledge, we can catch these conditions earlier and provide better recommendations for treatment, management and prevention.
当我们出现症状时，大多数人走进诊所或医院，期望能立即得到答案。对于患有罕见疾病的人来说，诊断的过程可能是曲折的，需要数月甚至数年的等待，并且似乎要无休止地寻找答案。在此期间，身体和心理压力会对心理健康产生负面影响。每个诊断过程都是独特的，但它们都体现了医疗体系的共同主题和不足之处。本文讲述了两位姐妹的故事，她们的诊断过程先是分道扬镳，然后又殊途同归，反映了这些经历对她们心理健康的影响，以及我们可以从中吸取哪些教训。希望随着更多的研究和知识，我们能够更早地发现这些疾病，并为治疗、管理和预防提供更好的建议。
