Paper highlights the difficulties of diagnosing primary ciliary dyskinesia
The results of the first international study looking at the challenges faced by people with primary ciliary dyskinesia (PCD) symptoms while they seek a diagnosis have been published in ERJ Open Research.
ELF worked with patient representatives and healthcare professionals on a survey which aimed to identify challenges faced by patients when referred for PCD diagnostic testing.
The survey was translated into nine languages and completed by 365 people in 25 countries worldwide.
The results will advise new European Respiratory Society (ERS) guidelines on diagnosing PCD which can be used to improve existing services and expand provision for diagnosis of this rare condition.
Interviews were also carried out with 20 people to explore the findings in more detail, such as why 35% of the survey respondents had visited their doctor more than 40 times before getting a referral to a specialist for PCD diagnosis.
The interviews revealed:
- A lack of PCD awareness among healthcare professionals and failure to take past history into account, leading to delayed diagnosis
- The need for improved reporting of test results
- The need for a solution to the "inconclusive" diagnostic status