A study was recently published in the Orphanet Journal of Rare Diseases, exploring the therapeutic trajectories of people living with a rare disease (PLWRD) in Chile and their families from the perspectives of patients, caregivers, and medical teams.
Understanding patient and family trajectories is an important tool for evaluating health system performance and quality of care. However, little research has been conducted on this topic in Chile, and Latin America more broadly, particularly for rare diseases. This study aimed to understand rare disease trajectories in Chile’s public and private healthcare systems, in order to inform future interventions aimed at improving rare disease care.
Through a series of in-depth interviews with sixty participants, researchers characterized three main types of trajectories among patients with symptoms indicative of a rare disease: obtention of a diagnosis for which specific treatment is available; obtention of a diagnosis which does not have a specific treatment available; and failure to reach a diagnosis with delivery of only symptomatic treatments.
While the therapeutic trajectories outlined above are similar in terms of initial symptoms and consultation, they diverge at the diagnostic stage. From that point forward, patient, caregiver and clinician experiences vary greatly depending on the ability to reach a diagnosis and the availability of specific treatment options. The study found that obtaining a diagnosis led to more positive experiences for PLWRD and their families, as it provided a sense of certainty and generally led to actionable insights. Conversely, trajectories which did not lead to a diagnosis were more emotionally challenging, often being reported as a “roller coaster” due to a diagnostic odyssey of incorrect diagnoses and unexplained symptoms.
Overall, this article sheds new light on the experiences of PLWRD and their families in Chile, and highlighted the importance of reaching a diagnosis for patients and caregivers. Moving forward, these findings can be used to inform targeted interventions which address the psychosocial needs of PLWRD and their families, as well as those which aim to improve the overall quality of rare disease care.
