The Narrative of Silence: Challenges Faced by Informal Caregivers of Patients with Rare Diseases in China

Rare diseases pose a significant challenge to global public health. Patients with rare diseases and their informal caregivers confront a narrative dilemma, impacting both their well-being and the functioning of the care ecosystem. This study focuses on the phenomenon of the narrative of silence among informal caregivers of patients with rare diseases in China. Based on the integration of existing literature and case interviews, this study reveals its specific manifestations and causes. This research finds that the informal caregivers narrative of silence mainly includes three types: performative silence, semantic silence, and power silence, all of which negatively impact their mental health, medical coordination and family relationships. Furthermore, this silence is shaped by the interplay of four factors: the characteristics of rare diseases directly constrain informal caregivers narrative capacity, mainstream illness narrative preferences and Chinese family characteristics jointly suppress narrative willingness internally, and social proverbs externally restrict narrative opportunities, collectively trapping informal caregivers in a cycle of silence. To address this, recommendations are made in healthcare responsiveness, narrative diversity, support networks, and cultural critique. These measures aim to break the silence by addressing its root causes and fostering a more supportive environment for rare diseases families.