TY - JOUR T1 - Diagnosing primary ciliary dyskinesia: an international patient perspective JF - European Respiratory Journal JO - Eur Respir J DO - 10.1183/13993003.02018-2015 SP - ERJ-02018-2015 AU - Laura Behan AU - Audrey Dunn Galvin AU - Bruna Rubbo AU - Sarah Masefield AU - Fiona Copeland AU - Michele Manion AU - Bernhard Rindlisbacher AU - Beatrice Redfern AU - Jane S. Lucas Y1 - 2016/08/04 UR - http://erj.ersjournals.com/content/early/2016/08/04/13993003.02018-2015.abstract N2 - 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 ER -