Garau Roberta
University of Aberdeen, Aberdeen, UK.
Orphanet J Rare Dis. 2016 Feb 29;11:19. doi: 10.1186/s13023-016-0401-7.
This letter considers the main challenges that people with rare diseases and their families face: delay in diagnosis, lack of appropriate support and information, and impaired access to treatment. The differences in medical experience between a patient with a rare disease and one with a common one are made through the use of a real-life example: the diagnosis of leiomyosarcoma received by my mother. I highlight how patients with rare disease are often misdiagnoses and how their symptoms are often overlooked. I also highlight the isolation patients with rare diseases and their families experience due to the lack of knowledge about their condition, the struggle to access treatment and the small amount of information and evidence based medicine for managing rare conditions.This article was the winning entry in the Findacure essay contest 'The Student Voice'. More information about Findacure can be found at http://www.findacure.org.uk .
诊断延迟、缺乏适当的支持和信息，以及治疗机会受限。通过一个真实生活的例子——我母亲被诊断出平滑肌肉瘤，阐述了罕见病患者与常见疾病患者在就医经历上的差异。我强调了罕见病患者常常被误诊，以及他们的症状如何经常被忽视。我还强调了由于对病情缺乏了解、难以获得治疗，以及针对罕见病管理的循证医学信息和证据有限，罕见病患者及其家人所经历的孤立感。本文是在“Findacure征文比赛‘学生之声’”中获奖的文章。有关Findacure的更多信息可在http://www.findacure.org.uk查询。
