My PhD research at the University Medical Center Utrecht, Wilhelmina Children’s Hospital, focuses on upper extremity disorders such as carpal tunnel syndrome, trigger fingers, and bone deformities in children diagnosed with the rare metabolic disease Mucopolysaccharidosis type I (MPS-I). These disorders limit activities of daily living, autonomy, and negatively impact quality of life.   The overall aim of my research is to understand, detect, and predict upper extremity disorders in children with MPS-I after stem cell transplantation, in order to develop evidence-based tools that help preserve hand function and quality of life. To achieve this, we investigate the molecular and structural mechanisms behind these disorders, establish age- and gender-specific reference values for skeletal growth, and implement a standardized protocol to assess hand function in routine care. By combining the clinical, functional, and biomarker data, we aim to develop sensitive prediction models that guide the timing of interventions, enable earlier prediction of disease severity, and provide patients and families with a clearer outlook of the future.