“诊断奥德赛”是一个术语用于堤防e the often longwinded and unpredictable journey in time between recognition of disease symptoms and diagnosis. Understandably, living with long-term uncertainty and ensuring attendance of healthcare appointments, in conjunction with an already arduous daily life, can have a significant impact on an individual’s mental well-being. The Genetic Alliance constitutes a good diagnosis as one that is accurate, timely, informed, supported, collaborative, coordinated, respected, and acknowledged. Here, I compare the diagnostic journeys of two mothers (Diana and Erin) of daughters affected by a rare disease (RD), with a focus on theGenetic Alliance’s good diagnosis requirements，以及这些经历对心理健康的影响。
The overarching journey
The average wait time for an accurate RD diagnosis isfour years，，，，yet many patients experience much longer torment, such as Diana, who endured a 41 year wait for her daughter Jane’s official diagnosis. Her journey was neither timely nor accurate, as this period was interspersed with various misdiagnoses. Diana had “no idea what was happening”; her daughter’s progress did not parallel that of her friends, supposedly suffering with the same disease. Increasing the depth and breadth of research into RDs should therefore aim to prevent these common misdiagnoses, and to accelerate and improve the accuracy of diagnoses.
在另一端，诊断的诊断之旅很短，就像艾琳的女儿玛丽亚（Maria）一样。尽管18个月是一个相对简短的时间范围，但艾琳（Erin）表示，这可能是我一生中最糟糕的时刻”，并被产后抑郁症重新诊断。艾琳（Erin）对玛丽亚（Maria）达到里程碑的努力感到非常焦虑，他分享了她倡导玛丽亚（Maria）的需求，玛丽亚（Maria）要求她“穿上装甲和战斗”。这是RD患者及其父母之间经常发生的事情，强调了专业人员对尊重和承认这些艰辛的态度的需求。
提供诊断
遗憾的是，玛丽亚的诊断是，艾琳得到了很大的支持和不明智的支持。艾琳（Erin）提供了PDF，其内容非常广泛且令人恐惧，他通过电话告知她阅读的内容 - 她的女儿的预期寿命为42个月。与为RD患者和家庭编写的许多资源不同，这篇学术论文不合适。因此，艾琳（Erin）遇到了疑问，因为没有准备的儿科医生无法回答。她和遗传联盟强调了这些任命应由了解这些信息的人亲自交付的重要性。
戴安娜（Diana）高度谈到了简（Jane）的诊断，在那里她与一位儿科医生一起任命，她在她可以理解的水平上清楚地解释了事情。与艾琳不同，戴安娜（Diana）认为她的许多问题在此任命中得到了回答，并有时间在将来再次交谈。虽然不可避免地因缺乏治疗方案而淹没，但戴安娜（Diana）感到有能力的讨论并能够应对即将发生的事情，这表明了诊断提供的强大印象。
Support groups and communication
医疗保健专业人员之间缺乏合作对两位母亲的旅程都有很大的影响，这表明了实施协调的护理计划的需求。尽管艾琳（Erin）被延迟进入专家，但戴安娜（Diana）独立发现了简的症状与经常出现的医院访问之间的联系，强调了支持和尊重许多患者和家人对自己的RDS的宝贵见解的重要性。
在简（Jane）的诊断之后，戴安娜（Diana）能够与相关的支持小组联系并与之建立联系，简的医生也花了一些时间加入 - 强调了一个简单的步骤专业人士可以为支持其RD患者提供支持。戴安娜（Diana）分享了这些团体如何帮助她最终获得一种归属感：“他们绝对可以帮助您感到自己并不孤单”。尽管艾琳（Erin）发现了支持小组提供的信息，但她不想进一步参加，认为共享的内容“令人难以置信的令人痛苦”。因此，必须承认RD患者旅程的个性以及患者对支持的不同要求和欲望。
Hope for the future
RD患者和家庭渴望参与研究，以更好地为领域提供信息，并为〜263-4.46亿全球影响。“More information” pleaded Erin, representing one of the most prevalent needs amongst RD parents. Erin was plummeted into chaos with her panic-stricken family upon receiving genetic results, with little warning of the possible repercussions upfront. This highlights the ongoing need for support throughout the diagnostic process, perhaps aided by genetic counselling prior to these tests. Diana was right when she declared “you have no idea the lengths we went to, to get a diagnosis”, and neither do many healthcare professionals. I sincerely hope that by drawing attention to the current struggles RD patients face during their diagnostic odyssey, that implementations can be made, to bring them hope.
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