The Diagnostic Journey of Childhood Idiopathic Nephrotic Syndrome: Perspectives of Children and Their Caregivers

BACKGROUND: Childhood nephrotic syndrome is a rare kidney disease characterized by sudden onset of edema, massive proteinuria, and hypoalbuminemia. Rare diseases can have a long and difficult trajectory to diagnosis. OBJECTIVE: We aimed to explore the experiences of children with nephrotic syndrome and their caregivers in their search of a nephrotic syndrome diagnosis. DESIGN: An exploratory, qualitative descriptive study design. SETTING: The Alberta Children’s Hospital outpatient nephrology program in Calgary, Alberta, Canada. SAMPLE: Children aged 9 to 18 years with steroid-sensitive nephrotic syndrome and their caregivers. METHODS: We undertook semi-structured interviews with children (alone or with a caregiver present) and their caregivers using a question guide suitable to their age and role. We used a thematic analysis approach to inductively code the data and characterize themes related to our research question. RESULTS: Participants included 10 children aged 9 to 18 years (6 boys and 4 girls) and 18 caregivers (8 men and 10 women). We characterized 3 themes related to participants’ experiences in search of a diagnosis of nephrotic syndrome: (1) unexpected and distressing symptom onset, (2) elusiveness of a diagnosis, and (3) encountering a diagnosis. Children with nephrotic syndrome and their caregivers described experiencing initial anxiety due to their unusual and unexpected symptom onset and lack of awareness about the disease. Perceived diagnostic delays and incorrect diagnosis early in the course of the disease contributed to multiple consultations with a variety of care providers. Overall, participants expressed a desire to move past their diagnosis, learn about nephrotic syndrome, and engage in their treatment plans. LIMITATIONS: The views expressed by participants may not reflect those of individuals from other settings. The time elapsed since participants’ nephrotic syndrome diagnosis may have influenced their recall of events and reactions to this diagnosis. CONCLUSIONS: In characterizing the diagnostic experiences of children and their caregivers, our study provides insight into how patients with nephrotic syndrome and their caregivers can be supported by the healthcare team along this journey. Focused strategies to increase awareness and understanding of nephrotic syndrome among healthcare providers are needed to improve patients’ and families’ diagnostic experiences.