Perspectives of pediatric patients with inborn errors of metabolism on long-term treatment and metabolic emergency management.

Abstract

Background: Long-term treatment and emergency management are essential in most pediatric patients with inborn errors of metabolism (IEM). In routine care, these patients receive age-appropriate education to support adherence and self-management. However, little is known about pediatric patients' perspectives on long-term treatment and emergency management. We explored patients' perspectives to identify individual needs and challenges.

Methods: After ethical approval and written informed consent, we conducted semi-structured interviews with 79 patients diagnosed with IEM, aged ≥ 6 years. The interview consisted of two parts: long-term treatment (Part A) and emergency management (Part B).

Results: Altogether, 79 patients participated. Part A on long-term treatment was completed by 66 patients. Of those, 70% (46/66) reported regular medication intake. While 67% (44/66) experienced their medication as beneficial, 24% (16/66) were unsure whether their medication was helpful. However, adhering to their prescribed treatment regimen was very important for 74% (49/66), mainly to prevent adverse health outcomes (48%, 32/66). Nearly half of patients (48%, 32/66) reported experiencing burden related to their medication, primarily due to its constant presence in everyday life (26%, 17/66) and unpleasant taste (13%, 9/66). Among 42 patients at risk of metabolic emergencies, 62% (26/42) were aware of the risk and were asked about their emergency management in Part B of the interview. Of those, 54% (14/26) were able to describe symptoms and their actions in response. Overall, patients rated their level of preparedness for emergencies as "moderate".

Conclusion: Pediatric patients with IEM demonstrated a good understanding of and positive attitude toward their medication. However, despite education as part of routine care, gaps remain in awareness and preparedness regarding metabolic emergencies that require further support for the affected patients.