Experiences and Information Needs of Families of Children With Organic Acid or Fatty Acid Metabolism Disorders in Japan.

Families of children with inherited metabolic disorders face a variety of medical, developmental, educational, and psychosocial challenges. However, little is known about how these families manage such issues within the Japanese healthcare and social support systems. This study explored the experiences and information needs of families of children with organic acid and fatty acid metabolism disorders. A cross-sectional questionnaire survey was conducted in Japan in June 2022 among 183 families of children with organic acid and fatty acid metabolism disorders recruited through a patient organization. Thirty-eight families responded to the survey. The questionnaire addressed the medical history, developmental concerns, support services, education, and psychosocial experiences. Most children (95%) were diagnosed within the first year of life. Two-thirds of the parents (66%) reported developmental concerns involving behavior, learning, or emotional regulation. Although many children attended regular schools, some required special needs education, and parents reported difficulties related to dietary management and school admission. Qualitative analysis of open-ended responses identified 10 categories describing parental experiences, including gratitude toward healthcare professionals, the need for information and support systems, and reflections on living with a chronic condition. Families of children with organic acid and fatty acid metabolism disorders face complex medical, educational, and psychosocial challenges. These findings highlight the importance of coordinated information sharing, multidisciplinary collaboration, and family-centered support to improve the quality of life of both children and their families.