The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome.

IF 4.4 3区 医学 Q2 GENETICS & HEREDITY
Abdallah F Elias
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引用次数: 0

Abstract

Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records, personal experiences in the care of a remarkable patient, and family interviews. It traces the life of a young man from rural Montana whose diagnosis was delayed for over two decades, despite early evaluations by renowned specialists. The absence of a unifying diagnosis profoundly shaped his and his family's experience-emotionally, medically, and socially. When the diagnosis of Myhre syndrome was finally established via whole exome sequencing in adulthood, it brought both clarity and new uncertainties. Through his story, we examine the psychosocial toll of diagnostic delay, the transformative potential of genomic medicine, and the resilience of individuals and families living with complex, undiagnosed conditions. The narrative also underscores the ongoing systemic barriers to care and inclusion for individuals with lifelong rare disorders. Lastly, this account offers a reflection on the philosophical framework of Maurice Merleau-Ponty, whose phenomenology of the lived body versus the body-object provides a lens to understand the subjective and embodied dimensions of living with an undiagnosed condition.

姗姗来迟的诊断:没有梅尔综合征的生活,然后又有了梅尔综合征。
Myhre综合征(MIM #139210)是一种罕见的多系统疾病,于1981年首次被描述,其特征是身材矮小、神经发育迟缓、关节挛缩和心肺并发症。其分子基础,即SMAD4的复发致病性变异,直到2011年才被发现。这篇叙述是基于对医疗记录的回顾,照顾一个了不起的病人的个人经历,以及对家人的采访。它追溯了一个来自蒙大拿州农村的年轻人的生活,尽管有著名专家的早期评估,但他的诊断被推迟了20多年。缺乏统一的诊断深刻地影响了他和他的家庭的经历——情感上、医学上和社会上。当Myhre综合征的诊断最终通过成人全外显子组测序确定时,它既带来了清晰度,也带来了新的不确定性。通过他的故事,我们审视了诊断延迟造成的社会心理损失、基因组医学的变革潜力,以及患有复杂、未确诊疾病的个人和家庭的复原力。这一叙述还强调了对终身罕见疾病患者的护理和包容方面存在的系统性障碍。最后,本文提供了对莫里斯·梅洛-庞蒂哲学框架的反思,他的生命体与身体客体的现象学为理解患有未确诊疾病的生活的主观和具体化维度提供了一个视角。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
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来源期刊
CiteScore
7.00
自引率
0.00%
发文量
42
审稿时长
>12 weeks
期刊介绍: Seminars in Medical Genetics, Part C of the American Journal of Medical Genetics (AJMG) , serves as both an educational resource and review forum, providing critical, in-depth retrospectives for students, practitioners, and associated professionals working in fields of human and medical genetics. Each issue is guest edited by a researcher in a featured area of genetics, offering a collection of thematic reviews from specialists around the world. Seminars in Medical Genetics publishes four times per year.
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