Experiences of parents and patients with the timing of Mucopolysaccharidosis type I (MPS I) diagnoses and its relevance to the ethical debate on newborn screening

► We studied experiences of MPS I patients and parents during their diagnostic odyssey. ► This qualitative study identified five important themes regarding this subject. ► Our results underline the importance of an early diagnosis in MPS I. ► Our results enrich the debate about expanding newborn screening programs for MPS I.