Fiona opened the meeting in the 25th year of the PCD Family Support Group. She outlined some of the achievements of the group including setting up a diagnostic service, the provision of paediatric services and hopefully an adult service shortly, the setting up of CAUK which helps with research as does the 100,000 genomes project and a PCD drugs trial.
The organisation offers support by means of a helpline, the website (20k hits last year), email, PCD Day and social media. It raises awareness with the BTS Conference, the Genetic Interest Group, CAUK, ARNS and promotes research. Fundraising supports these activities, and the organisation is run by volunteers.
Siobhan Carr then gave a talk on the Paediatric Management Service, explaining that the aims were to diagnose the disease early, educate, provide easily accessible annual monitoring of patients and to improve the general health of the patients.
She explained that there were outreach clinics across the country now as well as the four centres providing care. The PCD management service has enabled some research to be undertaken and she spoke of research to eradicate pseudomonas with paired samples from the nose and chest. She also explained that DNASE will no longer by funded by the NHS because its efficacy could not be proved.
Mary Carroll spoke about the development of the adult service, the need to continue care after childhood, and diagnosing adults especially those in bronchiectasis clinics. She explained that there are no regional clinics at the moment and there was a need for PCD consultant clinics with access to ENT consultants, physios, specialist nurses, social workers, counselling etc. There should also be provision for home ivs and home physios. A funding application has been submitted to the Specialist Commissioning Group and we hope that a decision will be made in early April.
Hannah Mitchision then gave a genetics update. She explained that 32 genes have been discovered so far that are implicated in PCD. She gave an update on the 100k Genomes Project and also spoke of the prospect of genetic therapy in the future.
After a delicious lunch Amelia Shoemark spoke of the development of new techniques in diagnostics. She explained the methods used to diagnose PCD which is a combination of the following: – nasal nitric oxide (nNO) screening, assessment of ciliary beat frequency (CBF) and ciliary beat pattern (CBP) using high-speed video microscopy analysis (HSVMA), transmission electron microscopy (TEM) and genetic testing. Amelia also talked about ‘PICADOR’ a clinical screening tool recently developed for clinicians want to see if they should send patients for diagnosis.
Jane Lucas spoke of BEAT-PCD, a 4 year study to improve the outcomes of PCD, conferences and a training school. 22 European countries have collaborated together in this as well as various patient organisations.
Carol Polak (Founder of the Group) personally thanked everyone for their continued commitment to the PCD Family Support Group and the community they represent.
Fiona closed the meeting with an invitation to attend the AGM on 4th June.