The recent publication of two qualitative studies exploring the lived experiences of working-age adults with inherited retinal diseases (IRDs), one conducted in Australia by Bakir et al.1 and the other by our research group in Singapore2, could not have been timelier, as they coincide closely with Rare Disease Day (which happens annually on the last day of February).3 Despite their different cultural contexts, these studies revealed strikingly consistent experiences of disruption, adaptation, and resilience among individuals with IRDs, which are rare genetic eye conditions that often lead to severe vision impairment or blindness.4 Their publication underscores an urgent need: to recognize that rare diseases like IRDs demand not just medical attention, but also psychosocial support and policy-level advocacy.

Affecting around 1 in 1000 to 1 in 2000 individuals, IRDs are a leading cause of blindness among working-age adults.4 The convergence of these two recently published studies not only highlights the universality of patient experiences but also magnifies a shared call for healthcare systems and societies to better understand, empathize with, and support this patient population. Both of these qualitative research studies showed that IRDs represent more than just vision loss; they profoundly disrupt individuals' identities, social engagement and psychological well-being. Participants from both Australia and Singapore described the complex emotional landscapes they traverse, including anticipatory grief, fluctuating emotions and a heavy cognitive load stemming from continuously adapting to declining bodily capacities and an uncertain future.1,2 Drawing on Maurice Merleau-Ponty's phenomenology, we are reminded that human experience is inherently embodied, with vision playing an integral role in how we situate ourselves in the world, “Visible and mobile, my body is a thing among things; it is one of them. It is caught in the fabric of the world, and its cohesion is that of a thing. But because it sees and moves itself, it holds things in a circle around itself.“5 Losing or experiencing a decline in vision thus represents a significant disruption to how individuals perceive themselves and their environment.

In both contexts, driving emerged as a powerful symbol of independence, highlighting how everyday tasks become markers of identity and autonomy.1,2 Loss of driving privileges forced individuals to confront a starkly diminished sense of personal freedom and increased reliance on social support, thus amplifying emotional distress and feelings of premature dependence and isolation. These narratives paint a vivid picture of the wide-ranging psychosocial implications IRDs have on daily life, underscoring the importance of recognizing and validating their effect on self-identity and autonomy.

A particularly resonant theme across both studies was the invisibility of IRDs as a hidden disability, exacerbating social stigma and misunderstanding. Although individuals may outwardly appear sighted, they struggle with declining vision that is not immediately apparent to others. This invisibility can lead to repeated “micro-aggressions,” misjudgments, and the constant need to self-advocate. Participants described constant social negotiations and advocacy for their needs, leading to emotional fatigue and heightened social anxiety. In Australia, participants highlighted their experiences as navigating a “roller-coaster of emotions,” often facing societal misconceptions due to the hidden nature of their condition.1 Similarly, in Singapore, our research highlighted ongoing struggles with societal stigma related to the invisibility of IRDs, with numerous frustrations arising from societal misperceptions and internal struggles associated with accepting and disclosing their conditions.2

Participants in both countries expressed sadness, grief and embarrassment stemming from societal misperceptions and struggling between the authenticity of showing their needs and the fear of stigma. On one hand, they felt compelled to disclose their condition to request accommodations; on the other, disclosure opened them up to judgment or pity. This precarious balance may contribute to “advocacy fatigue,” where the emotional burden of constantly explaining themselves takes a toll on mental health and self-esteem. Recognizing IRDs as a “hidden disability” is thus critical: it calls for public education campaigns that address stigma, as well as policy measures that protect individuals from discrimination and offer inclusive structures to support independent living.

The narratives emerging from Australia and Singapore converge on a clear message: healthcare systems are still ill-equipped to address the full spectrum of challenges posed by rare yet debilitating conditions like IRDs. While this commentary focuses on the parallel findings from recent qualitative studies published in the journal, similar psychosocial challenges have also been documented in diverse cultural contexts. For instance, Schofield et al. (2022) found significant reductions in health-related quality of life among individuals with IRDs in a population-based study in Australia,6 while Zehe-Lindau et al. (2025) reported substantial social impacts and emotional strain among individuals with molecularly confirmed retinitis pigmentosa (the most common type of IRD) in Europe.7 These findings collectively reinforce the notion that the lived experience of IRDs is marked by universal themes of identity disruption, emotional burden and social marginalization, and they underscore the global relevance and growing visibility of these concerns across both clinical and public health domains. The commonality across these diverse cultural contexts reiterates that the systemic inadequacies and personal challenges associated with living with IRDs are significant and they transcend geographical and cultural boundaries. There is a need to move beyond biomedical models to more patient-centered, psychosocially integrated approaches. When a condition has no cure, the question naturally shifts from “How do we fix this?” to “How can we support and accommodate patients in living with it?” For the patients living with IRDs, the emotional toll of their conditions often eclipsed the physical symptoms. They spoke of social isolation, anxiety about the future, and frustration at a system and society that seemed uninterested in their day-to-day challenges. Participants’ narratives revealed unmet needs for psychological support, societal understanding, and policy-level accommodations, including workplace adaptations and improved transportation access.

The marginalization of IRDs highlights broader systemic biases in health funding and policy, where rare diseases are often deprioritized due to assumptions about their limited cost-effectiveness—despite the fact that treatments can be vital and life-saving.8 Such marginalization not only exacerbates individual suffering but also perpetuates social isolation and diminished quality of life. Addressing these systemic gaps demands coordinated advocacy and a societal shift toward inclusivity and empathy for individuals with rare and progressive conditions.

The psychological toll IRDs exert on affected individuals, including despair, anxiety and grief cannot be overemphasized. Participants in the aforementioned studies described experiencing despair, especially at critical life stages such as career development or parenthood. The uncertainty of disease progression further exacerbated their emotional distress, which is another area of unmet need. Nevertheless, amidst considerable challenges, participants exhibited remarkable resilience and adaptability. They employed various coping strategies, including focusing on present capabilities, reframing personal narratives, using humour, and maintaining hope for scientific advancements.1,2 Participants highlighted the role of social support networks, adaptive technologies, and psychological counselling in bolstering their emotional well-being and sense of agency.

These insights underscore the value of integrated support systems that proactively address both practical adaptations and psychological coping mechanisms, providing crucial interventions to help maintain quality of life despite progressive impairment. Importantly, medicine's responsibility extends far beyond diagnosis and healthcare providers must actively engage with their patients' lived reality, recognizing the physical, psychological and existential dimensions of IRDs. For many, the real suffering lies less in the clinical diagnosis itself but more in navigating the complex social and emotional upheavals that follow.9 As clinicians and researchers, we are reminded of our broader responsibilities, extending beyond clinical diagnoses to understanding the full scope of patient experiences, advocating for societal change, and fostering inclusive policies that empower individuals to lead fulfilling lives despite progressive impairments.

Disability should not be viewed solely through the lens of either medical impairment or social exclusion. Rather, a more integrative understanding, such as that offered by the World Health Organization's International Classification of Functioning, Disability and Health (ICF),10 is especially valuable for IRDs. The ICF framework situates disability at the intersection of biological, psychological and environmental factors, recognizing that functional outcomes are shaped not only by health conditions but also by the availability of support systems, assistive technologies, and inclusive societal structures (see Fig. 1). While the medical model highlights the biological underpinnings and therapeutic possibilities of IRDs, and the social model emphasizes the role of structural barriers and advocates for an integrated approach that addresses both clinical needs and social determinants of health. For individuals with IRDs, this means embedding vision care within broader systems of psychosocial support, environmental accommodation and societal inclusion, ensuring that care is comprehensive, person-centered, and responsive to the full spectrum of lived experience.

Listening to patients with IRDs reveals a stark truth: many healthcare systems, though well-intentioned, fall short in attending to the broader dimensions of care, that is, empathy, presence and validation of emotional experiences. Individuals with IRDs frequently encounter pivotal life transitions related to career development, family life or personal aspirations, and vision loss amplifies the psychological weight of these transitions. The absence of a definitive cure leaves patients feeling overlooked or dismissed in a biomedical paradigm geared towards fixing acute problems. Fear of social judgment, reluctance to use assistive devices, and withdrawal from public spaces are not merely byproducts of failing vision but are also reflections of societal structures that are insufficiently inclusive.

Reflecting on our backgrounds as a medical doctor and researcher, we see that care must be understood in its fullest scope: emotional, existential and social. Care is at the heart of medicine. Yet regrettably, for many who pass through the healthcare system, it is “care” itself that feels absent. While the biomedical model remains vital, it must be supplemented with genuine empathy and co-created solutions. As Prof Arthur Kleinman writes in The Soul of Care, care goes beyond technical expertise: “Care is not just a tool for getting through life by helping one another. It is also a necessary condition for living a life of purpose and passion … Caring is what is morally and emotionally most at stake in human experience.”11 To honour the complexity of IRDs, healthcare practitioners and systems alike must reconsider what it means to “care” for patients whose conditions may not be curable but are undeniably bearable with the right blend of empathy, support and policy infrastructures.

Despite the common perception that public health is defined primarily by risk-factor identification and disease prevention, the realities of IRDs make it clear that public health also encompasses meeting the long-term needs of individuals affected by rare or chronic conditions. When I (QXN) embarked on my doctoral studies in public health focusing on IRDs, I was told that my research fell under the domain of “disability medicine” because IRDs have few modifiable risk factors and no established preventive measures. Nevertheless, a broader view reveals that ensuring equitable access to care, advocating for social supports and promoting the well-being of people with disabilities are all core aspects of public health. One of the reviewers for our original paper2 reinforced this perspective, noting: “To understand the importance of lived experiences to support IRD patients is an important field of study. I wish the authors good luck in advancing this in the public health domain.” This comment highlights that the public health lens need not be limited to epidemiological surveillance or risk-reduction interventions. Public health also involves cultivating health equity, interweaving psychosocial support throughout healthcare systems and shaping policy so that individuals from all backgrounds (particularly those in marginalized or underserved communities) can achieve optimal health and well-being.

Public health is about promoting and protecting the health of entire populations, which includes championing the needs of people with hidden or rare disabilities, even if the pathways to intervention differ from traditional disease-prevention models.12 Moreover, rare diseases like IRDs constitute a considerable health burden; Schofield et al. estimated the lifetime cost of IRDs in Australia to exceed US$3.4 million per person, with 87% attributed to societal costs.13 This emphasizes the far-reaching effects and broader implications of vision loss, which often include reduced QoL, limited employment opportunities, greater risk of poverty and increased reliance on informal caregiving.14 In this sense, IRDs highlight the critical importance of expanding public health's scope to address the multifaceted realities of living with rare yet life-altering conditions, and addressing IRDs in a public health context involves pushing for inclusive healthcare policies, social support systems and workplace accommodations that dismantle barriers for those living with progressive vision loss. These measures not only reduce health disparities but also champion social and economic inclusion for individuals who often navigate misconceptions and stigma tied to hidden disabilities. By embracing IRDs (and other rare diseases) as valid public health concerns, we broaden the remit of what public health can and should address, and this directly aligns with the United Nations Sustainable Development Goals (SDGs), particularly SDG 3 (Good Health and Well-being for all at all ages) and SDG 10 (Reduced Inequalities within and among countries).

These qualitative inquiries not only illuminate the struggles and strengths of individuals with IRDs but also serve as an urgent call to action. Healthcare providers, policymakers and society at large must re-envision the care and support structures offered to those living with rare, progressive diseases. Despite significant progress in some arenas, the global rare diseases community still faces substantial hurdles, including insufficient funding, fragmented research initiatives and a general lack of public awareness.15

Fostering international collaboration through global consortia, regional alliances, and harmonized policy frameworks are essential. Such cooperation could enhance resource allocation, accelerate clinical research, and promote evidence-based policymaking. One potential approach involves regional alliances—for example, within the Association of Southeast Asian Nations (ASEAN) or other Asia-Pacific networks—to facilitate shared diagnostic platforms, research funding, and bulk procurement strategies that lower the cost of rare disease research and treatment modalities. Global consortia could further pool patient data, accelerating clinical research and enabling evidence-based policymaking. Harmonizing cost-effectiveness guidelines or establishing cross-country recognized thresholds for funding rare disease treatments would also support a more cohesive global response.

For policymakers, many individuals with IRDs face reduced employment opportunities and rely heavily on informal caregiving by family members. These indirect, non-medical costs, while often excluded from standard economic evaluations, constitute a large proportion of the true societal burden and must be factored into planning and policy. Ensuring a fair and participatory process is also vital and decisions about what services to include, who to prioritize, and how much financial protection to provide must be transparent and inclusive. Only then can the system command trust and uphold its ethical commitment to equity, ensuring that no one is left behind, not even those with rare conditions like IRDs.