Family Fun Days

PCD Day, June 2009

The PCD Day was held on Saturday,27th June 2009 in a new venue inthe village of Great Brickhill near Milton Keynes. It was well attended. We had a great day with over 50adults and 25+ children.


The children were entertained with a cookery workshop in the morning where they made theirown pizza and cup cakes for lunch. They were also entertained by ‘It’s HimEntertainment’ in the afternoon.

  • Fiona Copeland chaired the AGM of which themain points were:-

What we havedone since last year

  • The video is in the process of beingupdated
  • We have bought £7,000 of hearingequipment for the Royal Brompton Hospital.
  • We have successfully bid for fundsfrom Jeans for Genes and have been awarded £7,000 towards updating thevideo. Total cost for this is £17,000.
  • Jeans for Genes have increasedawareness of PCD and put it on their website and are sending information toschools
  • There is an incidence of PCD of 1 in25 in Asian families (compared to 1 in 15,000 in the white families) thereforebeing more than cystic fibrosis.Fionahas therefore engaged with a hospital in Bradford.
  • Gary and Myra attended GIG RareDiseases Day at the House of Commons and met other groups and spoke to MPs.
  • We supported research intophysiotherapy
  • The Medical Advisory Board Meetingwas cancelled because of the tube strike
  • Fiona resigned from the PPI meetingsat the Brompton Hospital which now has Foundation Status
  • Two newsletters have been sent out
  • The British Thoracic Society WinterMeeting stall was manned by Royal Brompton Hospital staff
  • Fiona went to University CollegeHospital to talk to medical students
  • We signed up to whichis a search engine that is free to use and raises money for PCD

Mick Wilkin, Treasurer, addressed themeeting.A copy of the latest accountswas distributed and accepted.Heexplained that:-

  • We started and ended the year with£30k in the bank
  • We raised £14k this year (£28k lastyear).Thanks to all fund raisers
  • Interest on the capital is almost nil
  • Costs have risen to £13,500 from£11,000 last year
  • Leaflets were translated into Urduand Arabic
  • Independent Examiners werere-appointed 

Financial Outlook

  • The economic climate is difficult
  • Fundraising and donations are down on2008, but please continue to do what you can
  • Jeans for Genes funding is securedbut we need to contribute £10k from our own funds
  • We are a going concern for theforeseeable future

Way Forward

  • The video will be updated andstreamed on the website.It should beavailable in the New Year.
  • We will support families
  • We will support Jeans for Genes.Volunteers are needed to give presentationsand raise awareness
  • Presentationfrom Claire Jackson, Postdoctoral Scientist Primary Ciliary DyskinesiaDiagnostic and Research Team of Southampton General Hospital
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Claire explained that there are threediagnostic centres in Leicester, London and Southampton.They are government funded and providediagnostic services free of charge.Thereferrals are made to these centres by GPs. Around 250 patients per year are tested, and about 10% of these are PCDpositive.
She explained that normal cilia act like a toothbrush and clean thelungs. There are motile and sensory cilia. They are in the airways, ear, brain, eye, respiratory tract,reproductive tract, inner ear, ventricles of the brain and the sperm tailstructure.
There are about 70 PCD births per year and approximately 3,000 cases inthe UK.The implications of underdiagnosis are bronchiectasis, inappropriate ear nose and throat management (i.e.grommets and surgery) and inappropriate hearing management.We want to broaden the profile of PCD and domore research across Europe.
Symptoms of PCD:-

  • Respiratorydistress in the newborn
  • Reducedmucus clearance from the lungs and airways
  • Recurringlung infections
  • Sinusitis
  • Otitismedia
  • Bronchiectasis
  • Situsinversus in 50% of cases
  • Subfertility/infertility in adulthood
  • Danger ofectopic pregnancy

One in fifteen thousand of the general population have PCD, but this isabout 1 in 2265 in Asian communities particularly around Bradford.If two carriers have children, then one infour of those children are likely to have PCD. In America there is funding for research into PCD.Five or six genes have been identified, butmore research is needed.
The gold standard tests for PCD are:-

  • Look at theclinical history
  • Look atlung function - without good care, and with late diagnosis, lung functiondeclines
  • Nasalnitric oxide
  • Nasalbrushing biopsy
  • Ciliaryfunction by light microscopy
  • Ciliary ultrastructure

There are several ciliary ultrastructure defects

  • Dynein armdefect, which is the most common
  • Centralmicrotubule defects
  • Compoundcilia
  • Radialspoke defects
  • Extramicrotubules

The cilia are looked at by light microscopy.The process is vibration controlled, thetemperature is controlled to 37C, and there is high speed video analysis whichis then slowed down so that the beat can be identified.
In normal cilia there is a strong forward stroke and then a recoverystroke which moves the mucus along. However, in PCD the cilia move in a variety of ways and can sometimes bestatic.They may vibrate ineffectivelyas in atypical PCD.The cilia may bydyskinetic and have missing proteins. They may have dynein arm defects. Theymay have a transposition defect which cause the cilia to rotate.Secondary dyskinesia occurs when clilia aredamaged due to infection.
When cilia are tested using an air liquid interface, it takes about 8weeks to get a result. Light microscopy can give a result on the same day, butit is not enough for a diagnosis.
She talked about raising awareness of PCD and the need to target specialcare baby units and getting articles in the British Medical Journal which GPsread.She explained that the route fortesting started with the GP and referral to a consultant, and then to one ofthe three testing centres.However,Scotland and Wales are outside the testing zone of the three centres.

  • Presentationfrom Lizzie Flude, adult physiotherapist, and Nicola Collins, paediatricphysiotherapist , both from the Royal Brompton Hospital

It was explained that PCD is an inherited condition, but if appropriateand diligent care is taken, then the PCD patient can have a normal and activelife.
Mucus traps dust and bacteria in the lungs which is then swept out bynormal cilia.However, in PCD mucusstays in the lung because the cilia do not work properly.In a normal person the cilia in the lung actlike an escalator on the underground, but in PCD the cilia act like anescalator which is not moving.Thereforephysiotherapy is needed to get rid of this mucus.
A film was shown of a bronchoscopy which showed the airways of the lungsbeing blocked by mucus, underlining the need for regular physiotherapy.If PCD is managed well, then a normal andactive life can follow.Promptantibiotics are required, as well as regular sputum samples and ear nose andthroat (ENT) reviews.It is important tobreak the cycle of sputum getting trapped which causes infection andinflammation.This in turn causes airwaydamage, which then leads to more sputum being trapped.Physiotherapy can help enormously to breakthis cycle, but lung damage can be irreversible.It is important to keep the chest clear whichwill reduce infection.Coughing is notenough, sputum needs help to move up. Plugging of the airways occurs if sputum is not cleared which can causeinflammation, pain, infection, breathlessness and wheeze. Physio helps bydelaying lung damage, reducing wheeze, reducing the rattle of cough, and helpsprevents infection and inflammation.
It was stressed that each patient is an individual, and that there aremany different kinds of physiotherapy to suit each individual.There is:-

  • ActiveCycle of Breathing Technique (ACBT)

This method is flexible, and can be used with a lot of othertechniques.It is easy to remember, andcan be used in conjunction with postural drainage and blowing games etc.
The active cycle of breathing technique uses:-

  • Breathingcontrol
  • Thoracicexpansion
  • Forcedexpiration/huffing

Breathing techniques for babies need to be passive, but blowing gamescan be used and huffing so that a mirror steams up.

  • PosturalDrainage (PD)

For this method the patient needs to be comfortable and lies on his/herside in a gravity assisted position.Itcan be done on a physio table or pillows so that the patient lies in a tiltedposition which allows gravity to drain the lower lobe.If the patient lies further back then thisdrains the middle lobe.However thismethod should not be used if the patient has reflux problems.It can be used in conjunction with the ACBTtechnique.
The ACBT with PD techniques were demonstrated by Nicola.Thanks to Gregor for assisting with thedemonstration.

  • AutogenicDrainage

This method uses huffing but is much slower than ACBT.It is usually done in the seated position butcan be done in the PD position as well. It is flexible and can be done at work.
Various devices can be used to increase the efficacy of physiotherapy,and can also help with compliance if there is reluctance to do it.Oscillatory and positive expiratory pressure(PEP) devices help mobilise and move secretions.They splint the airways, increasing theefficiency of mucus clearance.The fluttercan really only be used in the sitting position because it needs to be heldupright, but the PEP/acapella can be used in the postural drainage position orthe seated position. PEPs can be usedwith ACBT.Acapellas are oscillatorydevices which provide both resistance and vibration.It may be necessary to hold the cheeks tomake sure that the vibration is in the lungs and not the cheeks. It varies fromperson to person as to what is best for that individual.
In PCD the sinuses become blocked and there are various devices that canbe used to help clear the sinuses.Theseinclude a watering can type device, Sterimar and NeilMed sinus rinse.
Posture is very important, and research shows that impaired posture canimpair lung function.Evidence also suggeststhat exercise is almost as effective as puffers.Trampolines are particularly effective.Activity is really important, and sportshould be encouraged.It can be helpfulto use a flutter before football.
Urinary/stress incontinence can result from so much coughing, even inyoungsters, and as a result can discourage coughing.It is fairly easy to treat, and pelvic floorexercises can help
There are various aids to loosen mucus, thereby making it easier tocough it up.These are mucolytics and includehypertonic saline (i.e. salty water) which can be inhaled by nebuliser.This is not suitable for everyone, and theairways need to be checked for toleration. There is also Mucodyne and Dnase medication.
It was then explained what order is the most efficient for clearing theairways.

  • Openairways (puffers)
  • UseMucolytics
  • Airwayclearance
  • Steroidinhaler
  • Inhaledantibiotics

The challenges for effective physiotherapy are adapting and tailoringtechniques to age and circumstances e.g. transition experiences, adapting towork, relationships, pregnancy etc.
The following questions should be asked so that the patient knows theyare doing what is right for them and what works for them:-

  • Is myphysiotherapy effective?
  • Is mycondition stable?
  • Do myphysiotherapy techniques fit with my life style?

Each patient should ask for a physio review periodically.

  • The day closed with a question and answersession

Questions were asked from the floor about swine flu.The advice given was to wash hands frequently,to use tissues and dispose of them promptly, and to avoid people with swineflu.Clare Hogg from the Royal BromptonHospital is advising us on swine flu.Ifa PCD patient gets swine flu then the advice is to ring the consultant’ssecretary and tell them.
In answer to questions about sputum tests, it was explained that Ittakes five days to obtain sputum test results and that the respiratory nursecan be contacted to give an indication of the result.PCD patients sometimes need to huff for doctorsto hear infection with a stethoscope.