title: Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening.
abstract: This study aimed to explore Fabry disease (FD) patients' experiences with the timing of their diagnosis and identify important patient-oriented themes relevant to discussions about the need for newborn screening (NBS) for this disorder. Thirty FD patients (13 males) were included in a qualitative study involving semi-structured interviews. The interviews were audiorecorded and transcribed, and the transcripts were analyzed to identify themes that captured the patients' experiences. The interview analysis revealed six relevant themes. One of these was the impact of a delayed diagnosis on severely affected patients, who often felt misunderstood and were frequently misdiagnosed. In contrast, some patients mentioned the drawbacks of presymptomatic diagnosis, which was associated with labeling and medicalization. In addition, the ability to anticipate future FD-related problems was considered both an advantage and a disadvantage of early diagnosis. Still, patients reported that they felt that an early FD diagnosis could prevent disease progression through the timely initiation of treatment. This study identified several relevant themes that reflect both the phenotypic heterogeneity of the disease and the substantial differences between patients' experiences with and without FD symptoms before diagnosis and among the patients in each group. These results add considerable nuances to the discussion about NBS programs for FD and should be incorporated into the debate.
authors.affiliation: Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands. m.g.bouwman@amc.uva.nl
authors.forename: Machtelt G
authors.initials: MG
authors.lastname: Bouwman
authors.forename: Minke H
authors.initials: MH
authors.lastname: de Ru
authors.forename: Gabor E
authors.initials: GE
authors.lastname: Linthorst
authors.forename: Carla E M
authors.initials: CE
authors.lastname: Hollak
authors.forename: Frits A
authors.initials: FA
authors.lastname: Wijburg
authors.forename: Myra C B
authors.initials: MC
authors.lastname: van Zwieten
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D002648:Child; D057210:Delayed Diagnosis; D003951:Diagnostic Errors; D000795:Fabry Disease / Q000175:diagnosis*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008875:Middle Aged; D015997:Neonatal Screening; D036301:Qualitative Research; D011795:Surveys and Questionnaires; D055815:Young Adult