Phenomenology has contributed to healthcare by providing resources for understanding the lived experience of the patient and their situation. But within a burgeoning literature on the characteristic features of illness, there has not yet been an account appropriate to describe congenital illnesses: conditions which are present from birth and cause suffering or medical threat to their bearers. Congenital illness sits uncomfortably with standard accounts in phenomenology of illness, in which concepts such as loss, doubt, alienation and unhomelikeness presuppose prior health. These accounts reflect, in different ways, Maurice Merleau-Ponty’s assumption that the ways of living of the ill contain allusions to fundamental, healthy functions. The originality of congenital illness complicates this assumption and demands its own original phenomenology. In this paper, I sketch my personal experience living with a single-ventricle heart condition. While some of this story may reflect my own idiosyncratic experience, I hope that much of it will resonate with the congenital illness experience. I argue that the phenomenological literature on illness, grounded in the notion of loss, does not describe the congenital illness experience. I show how a number of other patient-centred theories of health and illness which have been influential on phenomenology can and cannot elucidate congenital illness. In particular, I consider Georges Canguilhem’s account of the normal and the pathological; debates in disability; and the notion of illness as biographical disruption. I show that congenital illness results in the preadmission of its patients to a paradoxical logic of medical palliation, one product of which is existential maturity.

现象学通过提供资源来了解患者的生活经历及其状况，为医疗保健做出了贡献。但是，在关于疾病特征的新兴文献中，还没有合适的描述来描述先天性疾病：先天性疾病：从出生就存在并对其携带者造成痛苦或医疗威胁的疾病。先天性疾病与疾病现象学中的标准解释不符，其中诸如丧失、怀疑、疏远和异乡情调等概念以先前的健康为前提。这些描述以不同的方式反映了莫里斯·梅洛-庞蒂的假设，即病人的生活方式包含对基本健康功能的暗示。先天性疾病的独创性使这一假设复杂化，并需要它自己的原始现象学。在本文中，我概述了我在单心室心脏病中的个人经历。虽然这个故事中的一些可能反映了我自己的特殊经历，但我希望其中的大部分内容与先天性疾病的经历产生共鸣。我认为，基于损失概念的关于疾病的现象学文献并没有描述先天性疾病的经历。我展示了许多其他对现象学有影响的以患者为中心的健康和疾病理论如何能够也不能阐明先天性疾病。我特别考虑 Georges Canguilhem 对正常和病态的描述；残疾辩论；以及疾病作为传记中断的概念。我表明先天性疾病导致患者预先接受医疗姑息治疗的矛盾逻辑，