Lived Experiences of Patients With Rare Diseases and Healthcare System Barriers: A Phenomenological Study

To explore the lived experiences and perceptions of patients with rare diseases (RD) in relation to the disease process and its management by the healthcare system.

Although each RD individually affects fewer than 0.05% of the population, collectively RD affect between 3.5% and 5.9% of the global population, representing approximately 400 million people worldwide. Most RD are chronic, progressive, and debilitating, with 80% having a genetic origin. Despite advances, diagnosing RD remains complex, often taking 4 to 8 years, worsening patient outcomes and increasing healthcare costs. Furthermore, 95% of RD lack approved treatments, presenting significant challenges for both patients and healthcare systems.

An interpretative phenomenological qualitative study following Gadamer's hermeneutic framework was conducted. Semistructured, in-depth interviews were conducted between February 2022 and January 2024. Seventeen patients with RD were recruited using purposeful sampling. ATLAS.ti v.9 software was used solely to organize and manage the data during the analysis process.

Two main interpretive themes emerged: (1) RD: a desperate struggle against abstraction and hindrance, describing the emotional burden, diagnostic delays, and social consequences faced by patients with RD and (2) management and handling of RD by the healthcare system, highlighting professional unpreparedness, lack of coordination, and the key role patients and caregivers play in guiding care and sharing knowledge, alongside the emergence of peer support, digital tools, and social media as facilitators.

This study highlights the significant barriers patients with RD face, from diagnosis to treatment. Healthcare systems struggle with insufficient knowledge and resources, hindering effective care. It is essential for professionals to acquire specialized skills and for resource allocation to improve in order to address RD as a public health concern.

As part of an interprofessional team, nursing professionals play a vital role in supporting patients with RD throughout the diagnostic journey, treatment, and management. This study highlights the need for nurses to address not only clinical but also psychosocial and informational challenges, including guiding patients in the safe and effective use of social media as a source of support, information, and empowerment.

Patients contributed as participants in the study by sharing their lived experiences through in-depth interviews. No patients or members of the public were involved in the design, conduct, reporting, or dissemination plans of this research.