In most cases, PCD is diagnosed as an outpatient. Cell samples of are taken from the nose using a small brush. Samples are examined "live" using a light microscope to assess beat pattern and frequency. The sample is then looked at in much closer detail to pick out the specific defects and confirm the diagnosis.
Genetic testing is increasingly important in diagnosing this disease. There are now almost 30 known PCD-causing genes. The Trust's PCD team has been involved in genetic research for the condition for 20 years and is able to identify over 60 per cent of cases in this way.
Primary ciliary dyskinesia is an inherited genetic disorder of the structure and/or function of the cilia, which are the tiny microscopic moving structures lining the airways, ears and sinuses.&nbs
Due to the complexity of PCD, a multidisciplinary team approach is vital.
The teams consist of the following members:
Diagnostic team:
Dr Claire Hogg, consultant
Dr Amelia Shoemark, senior clinical scientist
Dr Melissa Dixon, EM scientist
Sarah Ollossen, respiratory physiologist
Kate Kilpin, respiratory physiologist
Management team:
Dr Siobhan Carr and Dr Claire Hogg, consultants
Miss Gemma Marsh, physiotherapist
Miss Abby Carlton, clinical nurse specialist
Miss Emily Frost, respiratory physiologist
Mr Michael Leshan, PCD secretary