TY - JOUR
T1 - Fabry patients' experiences with the timing of diagnosis relevant for the discussion on newborn screening
AU - Bouwman, Machtelt G.
AU - de Ru, Minke H.
AU - Linthorst, Gabor E.
AU - Hollak, Carla E. M.
AU - Wijburg, Frits A.
AU - van Zwieten, Myra C. B.
PY - 2013
Y1 - 2013
N2 - 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
AB - 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
U2 - https://doi.org/10.1016/j.ymgme.2013.03.008
DO - https://doi.org/10.1016/j.ymgme.2013.03.008
M3 - Article
C2 - 23566439
SN - 1096-7192
VL - 109
SP - 201
EP - 207
JO - Molecular Genetics and Metabolism
JF - Molecular Genetics and Metabolism
IS - 2
ER -