From Diagnosis to Daily Life: Challenges and Coping among Caregivers of Children with IMD in India

Abstract

Background: Inherited Metabolic Disorders (IMD) are a group of rare genetic disorders that often present in early childhood and require lifelong medical, nutritional, and psychosocial management. The intensive care demands and chronic nature of these conditions place a substantial burden on caregivers, yet their lived experiences remain underexplored, especially in low- and middle-income settings like India. Objectives: The aim of the study is to explore the quality of life, psychosocial challenges and coping mechanisms of caregivers of children diagnosed with various types of IMD. By understanding their experiences, the study sought to inform the development of targeted support systems and policy interventions. Methods: A qualitative, phenomenological design was adopted to capture the in-depth experiences of caregivers. Fifteen primary caregivers of children with IMD were recruited using purposive sampling from clinical settings in Jaipur, Rajasthan. In-depth, semi-structured interviews were conducted in Hindi and English, transcribed, and analyzed using Braun and Clarke’s six-phase thematic analysis. NVivo 12 software supported the coding process.  Results: Four major themes emerged: (1) Emotional turbulence and adaptation following diagnosis, (2) Caregiving as a life-altering commitment, (3) Navigating the healthcare and social systems, and (4) Strategies for resilience and hope. Caregivers reported significant emotional distress, social isolation, financial strain, and lack of access to specialized services. However, many also demonstrated remarkable resilience, drawing on familial support, spiritual beliefs, and advocacy communities. Conclusion: Caregivers of children with IMD face multifaceted challenges that impact their mental, emotional, social, and financial well-being. There is an urgent need for comprehensive caregiver support interventions, including counseling, financial assistance, community awareness, and integrated health services. Policymakers and healthcare providers must recognize caregivers as integral stakeholders in IMD management and design inclusive programs to enhance their quality of life.