RT Journal Article
SR Electronic
T1 Diagnosing primary ciliary dyskinesia: an international patient perspective
JF European Respiratory Journal
JO Eur Respir J
FD European Respiratory Society
SP 1096
OP 1107
DO 10.1183/13993003.02018-2015
VO 48
IS 4
A1 Behan, Laura
A1 Dunn Galvin, Audrey
A1 Rubbo, Bruna
A1 Masefield, Sarah
A1 Copeland, Fiona
A1 Manion, Michele
A1 Rindlisbacher, Bernhard
A1 Redfern, Beatrice
A1 Lucas, Jane S.
YR 2016
UL https://publications.ersnet.org//content/48/4/1096.abstract
AB Primary ciliary dyskinesia (PCD) is a rare genetic disorder characterised by progressive sino-pulmonary disease, with symptoms starting soon after birth. A European Respiratory Society (ERS) Task Force aims to address disparities in diagnostics across Europe by providing evidence-based clinical practice guidelines. We aimed to identify challenges faced by patients when referred for PCD diagnostic testing.A patient survey was developed by patient representatives and healthcare specialists to capture experience. Online versions of the survey were translated into nine languages and completed in 25 countries. Of the respondents (n=365), 74% were PCD-positive, 5% PCD-negative and 21% PCD-uncertain/inconclusive. We then interviewed 20 parents/patients. Transcripts were analysed thematically.35% of respondents visited their doctor more than 40 times with PCD-related symptoms prior to diagnostic referral. Furthermore, the most prominent theme among interviewees was a lack of PCD awareness among medical practitioners and failure to take past history into account, leading to delayed diagnosis. Patients also highlighted the need for improved reporting of results and a solution to the “inconclusive” diagnostic status.These findings will be used to advise the ERS Task Force guidelines for diagnosing PCD, and should help stakeholders responsible for improving existing services and expanding provision for diagnosis of this rare disease.The international PCD patients’ diagnostic experience calls for earlier referral and access to specialist services http://ow.ly/lxsR300T8kO