Living with Glutaric Aciduria Type 1: Experiences of Adolescents and Their Families Living in Germany

Abstract

Objective:  This study was conducted to investigate the effects of treatment of a child with glutaric aciduria type-1 diagnosis on the health-related quality of life of a child and his family via in-depth interviews.

Methods: The study was conducted in qualitative research design in the pediatric metabolism department of a university hospital in Germany. The inclusion criteria of the study were as follows: a family 1) with a child followed up with glutaric aciduria type-1 and who was exposed to a (tryptophan and) lysine restricted-diet, 2) with other healthy siblings aged between 10 and 25 years, and 3) who agree to participate in the study. The study was carried out in the framework of a biopsychosocial-spiritual model with a child (n=4) who was followed up with glutaric aciduria type-1 and his family. A total of 10 interviews were conducted. The interview records were transcribed and analyzed.

Results: In the study, 4 main domain and 11 themes were determined according to the biopsychosocial-spiritual model. The physical effects of the disease, the positive effects of treatment, and limitations were the themes in the biological domain. The psychological domain included themes named as psychological reactions to the disease, adaptation to the treatment process, coping strategies, and future concerns. The domain of social effects explained themes such as family and environment communication-interaction. In the spiritual domain included the meaning and objective of life and belief-values.

Conclusion: Living with glutaric aciduria type-1 disease and treatment received was found to have multiple effects on the quality of life of children and their families.