The fracture of the everyday: lived experience and invisibility in the nameless illness

The diagnosis of a rare or difficult-to-identify disease often marks a profound rupture in a person’s everyday experience. It is an event that abruptly interrupts what phenomenology has called the natural attitude: that way of being in the world where the body, in its silent functionality, supports action without imposing itself on consciousness.

Before the intrusion of illness, one lives immersed in an operational continuity made up of gestures, plans, and relationships. The body is taken for granted, experienced as transparent, a conduit that requires no attention. With the onset of symptoms—especially when they remain nameless for a long time—this transparency begins to crack. The body exposes itself, becomes opaque, turns into an object of concern and surveillance. The threshold between being and having a body becomes sharper, more dramatic.

In phenomenological terms, one could speak of an unchosen epoché: a suspension, not of theoretical origin, but forced upon us—a breakdown of the original trust that accompanies our embodied existence. It is not the result of reflection, but of a destabilizing experience that radically transforms our way of inhabiting the world.

As Meghan O’Rourke observes in her book The Invisible Kingdom: Reimagining Chronic Illness (2022), this transformation brings about a discomfort that is not only physical or clinical, but existential and relational as well. The ill person experiences a growing disconnection between what is felt in the body and what the world seems able to perceive. The fracture between lived experience and its social perception becomes a central feature of suffering.

“You look great,” O’Rourke is told—while inside she is overwhelmed by debilitating symptoms. The contrast between the subjective certainty of pain and its social invisibility generates a form of solitude that does not stem from physical isolation, but from the impossibility of authentically communicating what one is going through. It is an epistemic distance, a lack of legitimation.

The body, once the invisible tool of intentionality, now imposes itself as an opaque presence, as a constraint. It no longer responds to plans, but obstructs and dissipates them. In some striking passages, O’Rourke describes the transformation of the face and eyes, no longer perceived as spontaneous openings to the world, but as distinct, almost foreign parts—objects to be observed rather than inhabited. Familiarity with one’s own body is fractured, and with it, the continuity of the self.

It is not merely a matter of pain or fatigue. What is affected is the very sense of identity. O’Rourke speaks of a fatigue that not only limits action but erodes the will—that subtle force that holds the person together as an acting subject. In such a condition, one may come to no longer recognize oneself: daily life becomes a set of tasks to be executed without the sensation of being present to oneself. One begins to perceive oneself as a clumsy mechanism in motion, not as an “I” endowed with intentionality and direction.

Within this discontinuity, a disturbing sensation emerges: the impression of impersonating oneself. Living one’s life like an actor playing a role, no longer coinciding with it. It is a form of internal splitting that affects not only communication with others but also the relationship with oneself: a semblance of identity coherence is projected where fracture is in fact lived.

The dialogue with the medical world can intensify this condition. Language, which should foster understanding, often proves inadequate. As O’Rourke notes, quoting Elaine Scarry, author of The Body in Pain, “to have pain is to have certainty; to hear about pain is to have doubt.” This imbalance makes it difficult for the experience to be acknowledged, pushing the subject into an even more radical solitude.

In this context, diagnosis is not only a clinical tool: it is also—and perhaps above all—an act of legitimation. Naming the illness means offering a shared language, a point of contact between the patient’s inner world and the intersubjective space they inhabit. When this name does not come, or remains uncertain, the person remains suspended in a liminal condition: neither healthy nor fully ill, neither understood nor entirely ignored.

It is in this in-between space that undiagnosed chronic illness becomes revelatory. It brings to light fundamental dimensions of existence—vulnerability, the fragility of identity, the limits of language, the need for recognition—that usually remain hidden beneath the surface of normality. This is not a phenomenological reduction in a theoretical sense, but a lived experience that lays bare the contingency of what we had taken to be necessary.

The necessary dialogue between medicine and human experience in rare diseases

The field of rare diseases makes particularly visible a fact that should be central to contemporary medical practice: the physician’s intervention cannot ignore an interpretative framework shaped by medical anthropology. The complexity of these conditions—often resistant to standard classifications—requires an approach that goes beyond the mere identification of symptoms and the application of therapeutic protocols.

A key concept from medical anthropology that sheds light on this necessity is that of embodiment, developed by Thomas Csordas (see Csordas, 1990, 1994). According to this theoretical perspective, the body is not merely a physical object on which disease manifests, but the very subject of cultural experience and the existential ground of culture itself. In the case of rare diseases, embodiment reveals itself in particularly significant ways: misunderstood symptoms are incorporated in ways that radically transform the patient’s lived experience, creating what Arthur Kleinman has defined as a “local world of suffering”—a world in which the personal, social, and clinical meanings of illness are inextricably interwoven (see Kleinman, 1988).

Kleinman’s distinction between disease (the pathology from a biomedical perspective), illness (the lived experience of illness), and sickness (the social dimension of illness) becomes especially crucial in the realm of rare diseases, where the lack of biomedical recognition intensifies the fracture between these dimensions—a phenomenon further explored by Byron Good in his work on medical rationality (see Good, 1994).

In rare diseases, the boundary between normality and pathology, between physiology and dysfunction, becomes particularly blurred. The very rarity of the condition renders traditional nosological categories insufficient, forcing the physician to engage with the irreducible singularity of the patient’s experience. This ambiguous territory is precisely the space where different forms of knowledge must meet: evidence-based medicine must enter into dialogue with the human sciences, with the phenomenology of lived experience, with the anthropology of the body and of suffering.

Meghan O’Rourke’s testimony (2022) makes this need explicit. Her journey through the labyrinth of undiagnosed illness shows just how essential it is, for effective clinical practice, to integrate biomedical understanding with a careful consideration of the patient’s subjective experience. When O’Rourke describes the disconnection between her inner experience of illness and the way others perceive her from the outside, she brings to light a phenomenon with deep clinical implications: illness is not only a biological alteration but a transformation of the entire way a person exists in the world—an idea that echoes Arthur Frank’s analysis of the “dyadic” body in illness, always in dialogue with other bodies and social systems (see Frank, 1995).

In this sense, rare diseases function as a paradigm for a more general truth: every pathological condition alters not only the functioning of the organism but the person’s overall relationship with themselves, with others, and with the world. Kleinman describes this phenomenon as the transformation of lived experience that accompanies chronic suffering, where the cultural and personal categories that once gave meaning to daily life are radically called into question (see Kleinman, 1995). To ignore this anthropological dimension is to exclude the possibility of adequately understanding the illness—and, consequently, of treating it effectively.

The encounter between different forms of knowledge is therefore not one option among many, but an intrinsic necessity within medical practice, especially in light of the challenges posed by rare or hard-to-classify conditions. Medicine needs the human sciences in order to grasp the meaning of pathological experience; the human sciences need medicine in order to anchor anthropological reflection to the concrete biological realities of the suffering body.

The Resistance of the healing vocation

It is undeniable that in contemporary medical contexts, a range of difficulties accumulate that can wear down even the most committed energies. Bureaucratic pressure, economic constraints, excessive workloads, the fragmentation of specializations, and the reduction of time available for each patient all tend to erode that dimension of care which should remain central to medical practice.

Yet, as O’Rourke herself suggests when she speaks of the few doctors who truly recognized her suffering, there are professionals who resist this erosion. Their testimony is the clearest evidence of something that resists being silenced: a healing vocation that transcends the mere application of techniques and procedures.

This vocation reveals itself in the ability of certain physicians to keep alive, despite everything, a disposition to listen, a willingness to remain within uncertainty without rushing toward premature diagnoses, an openness to acknowledge the limits of their own knowledge without thereby abandoning the patient to their fate. O’Rourke describes the profound impact of those doctors who simply acknowledged the reality of her suffering: “their words were like a rope thrown across a terrifying abyss” (O’Rourke, 2022, p. 103).

What resists being silenced is precisely that intersubjective dimension of care that cannot be fully absorbed into technical protocols or bureaucratic procedures. It is the ability to enter into relation with the other in their vulnerability, to recognize their experience as valid even when it escapes available diagnostic categories, to accompany the patient in the difficult task of making sense of their condition. As Rosenberg observes, this intersubjective dimension has been progressively marginalized by the transformation of patients into “numbers on charts, shadows on X-rays, and smears on slides,” a process rooted in the history of modern medicine but reaching its peak in contemporary specialist fragmentation (cf. Rosenberg, 2007).

This resistance is not merely a matter of professional ethics or personal humanity; it touches the very core of medicine as a practice devoted to caring for the human being in their wholeness. Doctors who preserve this dimension testify to the persistence of a vision of medicine which, even while confronting the increasing complexity of today’s healthcare systems, continues to place the therapeutic relationship at the center—as an encounter between persons.

Their resistance becomes especially meaningful in the context of rare or hard-to-diagnose diseases, where uncertainty is highest and the temptation to reduce the patient to a “difficult case” is strongest. When a physician chooses to remain present for the patient even in the face of an inability to provide definitive answers, they are affirming a fundamental principle: care does not coincide with cure, but begins with the recognition of the other in their suffering.

This recognition has a therapeutic value that goes well beyond the placebo effect, as demonstrated by Kaptchuk and colleagues in their important randomized controlled trial on patients with irritable bowel syndrome, where they showed that empathetic interaction between doctor and patient can lead to significant clinical improvements even in the absence of “real” treatment (cf. Kaptchuk et al., 2008). As O’Rourke notes, citing research on medical empathy, “the incidence of serious diabetes complications among patients of physicians who score high on a standard empathy scale is 40% lower than among patients of physicians who score poorly” (O’Rourke, 2022, p. 178). What resists being silenced is also something clinically effective, capable of concretely influencing the course of illness—a phenomenon that Scarry would link to the complex interrelation between language, recognition, and the materiality of the suffering body (cf. Scarry, 1985).

The testimony of these doctors reminds us that, despite all the structural difficulties of today’s healthcare systems, a medical practice remains possible—one that integrates technical competence with human sensitivity, scientific rigor with openness to the patient’s subjective experience. It is in this integration that the healing vocation of medicine is most authentically realized, especially in the face of the challenges posed by rare diseases, where biological complexity and existential enigma are inextricably intertwined.

Conclusion

I would like to conclude this text by referring to the protagonist of Dissipatio H.G. by Guido Morselli, who suddenly finds himself as the last human being on the planet. His experience represents an extreme and literary form of the solitude so often experienced by those living with a rare disease. “Society, after all, was merely a bad habit,” he says with bitter irony. Yet within this provocative statement lies the opposite truth that the character eventually discovers: human existence is intrinsically relational, and total solitude is an unbearable burden.

Those who live with a rare disease are intimately familiar with this tension. On the one hand, the feeling of being excluded from the “normal” social fabric, of inhabiting a landscape of suffering that others cannot understand. On the other, the fundamental need for recognition and human connection. As Morselli writes: “In this part of the illness, I recall just in time, houses have backs, orchards, gardens, that face the river”—an image that evokes the need for shared spaces, even in moments of deep isolation.

The protagonist, who before the event actively sought solitude (“to live outside and above, to live alone”), discovers that when solitude becomes absolute, it turns into an abyss: “One is not mad, one is considered—or considers oneself—mad only in comparison with behavior different from one’s own. A point of reference is needed.” It is precisely this point of reference that is often missing in rare diseases, where patients find themselves navigating unexplored clinical territory, lacking a community able to validate their experience.

Contemporary medicine, with its increasing specialization and fragmentation, risks amplifying this solitude. As we have seen, a purely biomedical approach that reduces the patient to a “case” without considering the existential dimension of illness can turn the clinical encounter into yet another site of alienation.

And yet, it is precisely here that the importance of a medical anthropology becomes clear—an anthropology capable of understanding and responding not only to symptoms, but to the meaning illness assumes in the patient’s life. A physician attentive to this anthropological dimension is committed to building that intersubjective bridge which allows the patient to emerge from the solitude of their condition.

As Morselli’s protagonist realizes in his search for Karpinsky, the only doctor who truly understood him: “The only reality man must take into account is the one he creates for himself as an individual.” In this sense, authentic care consists in recognizing and legitimizing the reality lived by the patient, in allowing them to reconstruct a livable world even in the midst of illness.

Rare diseases teach us that medicine cannot limit itself to healing bodies; it must care for persons. In a healthcare system increasingly burdened by bureaucratic and economic pressures, the resistance of this healing vocation is not only an ethical necessity but a clinical imperative: only by recognizing the uniqueness of each patient’s experience can we hope to offer a form of care that truly deserves the name.

As Morselli’s protagonist says in one of his most lucid moments: “Oh doctor Karpinsky, I think, aloud: remember me.” In that simple invocation is condensed the entire human need to be remembered, to be recognized, not to be abandoned in the solitude of suffering. And this is, in the end, the highest task of medicine: to remember those who suffer—not as clinical cases, but as persons whose lives and pain deserve to be welcomed, understood, and, as far as possible, eased.

References

Csordas, T. J. (1990). Embodiment as a Paradigm for Anthropology. Ethos, 18(1), 5-47.

Csordas, T. J. (1994). Embodiment and Experience: The Existential Ground of Culture and Self. Cambridge University Press.

Frank, A. W. (1995). The Wounded Storyteller: Body, Illness, and Ethics. University of Chicago Press.

Good, B. J. (1994). Medicine, Rationality, and Experience: An Anthropological Perspective. Cambridge University Press.

Kaptchuk, T. J., Kelley, J. M., Conboy, L. A., Davis, R. B., Kerr, C. E., Jacobson, E. E., Kirsch, I., Schyner, R. N., Nam, B. H., Nguyen, L. T., Park, M., Rivers, A. L., McManus, C., Kokkotou, E., Drossman, D. A., Goldman, P., & Lembo, A. J. (2008). Components of placebo effect: randomised controlled trial in patients with irritable bowel syndrome. BMJ, 336(7651), 999-1003.

Kleinman, A. (1988). The Illness Narratives: Suffering, Healing, and the Human Condition. Basic Books.

Kleinman, A. (1995). Writing at the Margin: Discourse Between Anthropology and Medicine. University of California Press.

Morselli, G. (1977). Dissipatio H.G. Adelphi

O’Rourke, M. (2022). The Invisible Kingdom: Reimagining Chronic Illness. Riverhead Books.

Rosenberg, C. E. (2007). Our Present Complaint: American Medicine, Then and Now. Johns Hopkins University Press.

Scarry, E. (1985). The Body in Pain: The Making and Unmaking of the World. Oxford University Press.

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This article is associated with the following DOI: 10.6084/m9.figshare.28690241

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