Family Fun Days

Do you live in the South West and want to raise awareness of PCD?

Georgia Dixon (who has a sister with PCD) is in her third year of film school in Bristol and wishes to make a short documentary about living with PCD.  Are you able to help? If so, please contact her by email: .(JavaScript must be enabled to view this email address)  asap.
What the project is about
The Film will document three families in their day-to-day life and how they manage their hobbies, education and jobs around PCD, with a view of raising awareness. We are looking for families close to South and West Wales, Southampton and West England.
What will it entail for the families?
A small camera crew would hope to come to your home for a few days to document the way you live without affecting your daily routine. This would include documenting physio, the school run and even you having dinner!  An interview will also be held with individual family members, as well as the family as a whole.

When and where filming will take place?
The filming will take place within your home or around your area depending on if you or your child have various activities such as a dance class or football.

The film will then be shown on the PCD website, as well as at a showing in Bristol to raise money for the charity.
The filming will take place between January and March 2015 although, it could also be before that if it suits you better.
Other Useful Info
It doesn’t matter how young or old you are to be a part of this documentary, as we are looking for a wide range of ages and characters.
If you are interested, we would like you to send a small video (you can do this on your mobile phone) of you and your family talking a bit about yourselves.
Whether you have PCD yourself, or care for someone who does, we would like to share your story and help raise awareness for PCD and the inspirational families that manage it on a day-to-day basis.

European Respiratory Society Lifetime Achievement Award for Professor Andrew Bush

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Congratulations Professor Andy Bush on being awarded the Lifetime Achievement Award at the ERS Congress

Professor Bush has looked after many PCD patients over his career whilst working as a paediatrician at the Royal Brompton & Harefield NHS Foundation Trust. He was the driving force in the set-up of the PCD Family Support Group in 1991 and has been one of our most ardent supporters since then. 

Northern PCD Day 2014

We held our first Northern PCD Day on Saturday, 11th October 2014 at the Thornbury Centre in Bradford.  Sixteen families got together to share experiences, learn more about the PCD Paediatric Management Service and the PCD Family Support Group, how to manage your diet when you have PCD and new physiotherapy techniques.  The children and adults were treated to some fantastic magic and balloon modelling by Barrington Powell

To read a full report click here

 

Quality of Life in PCD- Research

You may be aware that the National PCD service is leading an international collaboration to develop ‘quality of life’ questionnaires for patients with PCD and their families. Some of you have been involved with its development by being interviewed or completing early stage questionnaires.
The questionnaires are now complete, and ready to be tested before we can start using it in clinics e.g. to look for improvements in health if you are started on a new treatment.
We are looking for adults, children (6 years and older) and their parents, to test the questionnaires. Questionnaires are available to complete online, or in paper format from home. The children’s electronic version (6-11 years) is ‘read to them’ to them on-line so that they can answer without the help of an adult.
For further details please contact the Southampton PCD team who are coordinating the research .(JavaScript must be enabled to view this email address)

Flu Vaccinations 2014

It is recommended that all patients with PCD have an annual flu vaccination. There are now two types of ways to deliver this vaccination – the LAIV which is delivered via the nose or by injection. 
We have been advised by our PCD Specialists that they recommend that all PCD patients continue to have the vaccination by injection as there is still little evidence that the LAIV is 100% effective in children with congested noses.
Unaffected siblings that are offered the LAIV should receive it as it is likely to be more effective in this group than the injection. They may be slightly symptomatic after it (congested nose, cough), if so, they should take the same cross-infection precautions as if they have a cold i.e. good hand washing and avoidance of coughing and spluttering all over other family members.
If your PCD child has already received the nasal flu vaccination there is no need to be alarmed, it is unlikely to be a problem but if they become symptomatic with increased cough they can discuss with their PCD centre with regard to starting an antibiotic.
For more information then please contact us or your Respiratory Nurse Specialist.

Raising awareness

On Wednesday, 17th August 2014 Anthony Campbell was on BBC West Midland Radio talking about his son Kieron with Laura Pattison from Genetic Disorders UK. They were encouraging people to take part in Jeans for Genes Day.

Listen here ....

ERS Conference, Munich

Beatrice Redfern, one of our new committee members, volunteered to represent the group at the ERS Conference in Munich.  Beatrice attended two specific meetings with the Bestcilia European PCD Task Force.

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Overall the trip was enjoyable with promising developments in the pipeline. Some new research revealed that there may be other cilia-related mutations where the symptoms present similar to those of PCD but are not technically PCD as the cilia function as they should.

The systematic review being carried out by the Task Force team will provide guidelines about effective and efficient diagnosis of PCD, as well as what to do in difficult-to-diagnose cases. With the patient perspective these guidelines will be more tailored to the patient’s needs and will hopefully address issues such as time-frame for diagnosis and equipping patients with information about PCD, and also about the process of diagnosis for PCD. 
There were a number of poster presentations relating to Cilia which can be found here.

Family Fun Days

Check the website in the New Year for the date of the next one.

Click on the links below for a report on previous days:-

Northern PCD Day 11th October 2014
2014
2013
2012
2011
2010
2009
2008
2007

Information for Schools

PCD is a rare genetic disorder that affects a number of systems in the body. In particular it can lead to chronic infections of the lungs, nasal sinuses and ears.

Children with PCD generally have a wet cough and/or a runny nose; however this is rarely contagious to healthy children. For people with PCD, a cough is essential for moving mucus out of the airways and should be encouraged, especially after exercise. Tissues should be available for the children to cough their phlegm into and blow their nose with throughout the school day.

imageIntermittent hearing loss is common in PCD, particularly during a cold. This is because cilia are partly responsible for clearing the ears of mucus. If the cilia do not work the build up of fluid can result in recurrent glue ear. Whilst grommets are often used in the treatment of children with recurrent glue ear, in those with PCD they are found to be less beneficial. The treatment of this is therefore to monitor hearing regularly and support this with hearing aids if required. Whilst the PCD Service will regularly monitor the children’s hearing, if you have any concerns with their hearing or notice changes consistent with hearing problems such as unexplained disruptive behaviour, delayed speech development, lip-reading, talking loudly, failing to respond when called etc., please let their parents know.

Around 50% of children with PCD have a mirror image arrangement of their internal organs i.e. their organs are on the opposite side of the body to where they are normally. This does not affect the children on a day-to-day basis but might be important information to share in the event of an emergency.

Trapped mucus is a source for repeated infections and, for some children with PCD, this can result in multiple absences from school. Sometimes children are admitted into hospital for two weeks (or more) for intravenous antibiotics and intensive physiotherapy. During this time the hospital school will be in contact with you to help ensure the child does not miss out on too much learning. Exams can be facilitated in hospital if necessary. That being said we expect most children with PCD to have attendance levels within normal limits (>92%). As medical appointments do not count in unauthorised attendance figures, please ensure that the child is not excluded from any attendance award schemes if they only miss school for their hospital appointments.

imageExercise, alongside physiotherapy, is key in helping improve mucus clearance. Children with PCD should be able to keep up with their peers and should be actively involved in physical activities and sports days. Occasionally, individual children may have asthma, in addition to PCD, and therefore they might need to use inhalers prior to exercise. This should not stop them participating in any sport. A small proportion of children with PCD also have associated heart problems and this may impact on their exercise ability. If this is the case the child’s parents will be aware of any limitations. Please remember to provide tissues so the child can clear their chest and nose during and after exercise.

Some of the ways schools can help the children with PCD is to:

  • Seat the child at the front of the class facing the teacher to prevent any missed learning associated with hearing loss.
  • Encourage the child to clear their nose before doing any class based cooking/tasting sessions. This is important both for good food hygiene and as their sense of taste can be impaired due to a blocked nose.
  • Provide tissues (and a place to clear their nose and chest in private if needed) as necessary. Gently prompt the child to clear their nose regularly as they may not be aware their nose is running. It is helpful for the child to be near a bin to dispose of tissues.
  • Liaise with the hospital school during admissions to help the child keep up with their schoolwork.
  • Ensure that children can drink freely to make their mucus/phlegm less thick and easier to clear.

Northern PCD Day 11th October 2014

Following on from our Bradford PCD Evening in September 2013 in Bradford we are now organising a whole day’s event on Saturday, 11th October 2014 from 11 a.m. to 4 p.m. at The Thornbury Centre, Leeds Old Road, Bradford, West Yorkshire, BD3 8JX. Free parking available.

The aim of the day is to learn more about PCD and meet other families to share experiences. The children will be entertained all day so that the parents/carers or adult PCD members can listen to the talks.

Please RSVP to Fiona Copeland via email .(JavaScript must be enabled to view this email address) or to Georgina Perry Tel: 0113 3926335 letting us know the number of people attending and any special dietary requirements. You are more than welcome to bring your children, friends or relatives.

Northern_PCD_Day_11th_October_2014_final_report.pdf

Share your experiences of PCD diagnostic testing

We want to find out about the experiences of people who have been tested for PCD.

It can be difficult to diagnose PCD and many people have bad, as well as good experiences leading to a positive or negative diagnosis. We would like to learn more about peoples’ experience of PCD diagnosis so that we can improve how people with PCD are diagnosed. We are interested in opinions from patients who were found not to have PCD as well as those with the disease.

The European Respiratory Society has funded a working group to form guidelines for the diagnosis of patients with primary ciliary dyskinesia (PCD) and we wish to ensure that the opinions of patients are reflected in the guideline. People who have been tested for PCD (or parents) are invited to participate in a short survey to highlight issues that they consider important when developing these guidelines.  There is an opportunity at the end of the survey to provide your contact details if you are willing to talk to a researcher to provide more in-depth insight

Click here to link to the survey.

PCD Day June 2014

To read more about the latest PCD Day please click on the link below;

PCD Day June 2014

National Draw 2014

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We have been very kindly donated a Gold PCD Angel Necklace by Debbie Richards http://www.pcd-angel.co.uk.  For just £1 a ticket you could be in with a chance of winning this beautiful necklace or some high street vouchers.

The prizes

  • 1st prize - Gold PCD Angel Necklace
  • 2nd prize - £100 High Street Vouchers
  • 3rd prize - £50 High Street Vouchers


Why should you enter?

By buying or selling National Draw tickets, you are helping us to:-

  • Provide support to patients and their carers who have, or are suspected of having, PCD
  • Bring PCD to the attention of medics who may come across PCD and continue to provide an up to date information service for them and the general public
  • To promote research to aid diagnosis and treatment of patients with PCD
  • Support the NHS and other bodies to ensure patients have access to diagnostic services and on-going care



How do you enter?

Tickets cost £1 and are available in books of 5.

To order raffle books call 0300 111 0122 or via the website contact us or you can collect at PCD Day

Stubs to be returned to Fiona Copeland, 15 Shuttleworth Grove, Wavendon Gate, Milton Keynes MK7 7RX by 1st December 2014.

Payment can be sent to the above address by cheque made payable to PCD Family Support Group or by sending a donation via Justgiving leaving a message that it is for National Draw tickets.

The draw will take place on 4th December 2014. All ticket payments received after 1st December 2014 will be treated as a donation.


How will you find out if you’ve won?

We will notify all the winners in writing. A list of winners will be available at our website or you can contact us

Read the National Draw 2014 Terms and Conditions.



Responsible gambling

GamCare is the UK’s leading authority on the provision of support, advice and counselling for people affected by gambling. If you or someone you know needs help or advice, please call its helpline on 0808 8020 133 or visit the GamCare website.

This Draw is registered under the Gambling Act 2005 with Milton Keynes Council.

 

PCD Paediatric Guidelines

The PCD Paediatric Management Team in collaboration with the Support Group have just re-published the PCD Paediatric Diagnostic and Management Guidelines.

 

Patient Survey 2013 Results’

We are delighted to report that 112 patients and families of patients with PCD responded to the survey and the results both showcase the great examples of PCD care available to some patients and lay down the challenge for the PCD Family Support Group to champion ensuring excellent PCD care is available to all PCD patients irrespective of their age or geographical location in the UK.

To read the full report click here.

 

PCD Medical Board Meeting March 2014

Please click here to read about the PCD Medical Board Meeting.

News… Air Pollution Warning

Parts of the UK are currently experiencing high to very high levels of air pollution. High levels of air pollution can have an adverse effect on the health of people with lung problems, including adults and children with Primary Ciliary Dyskinesia.

The advice from the Department of Environment, Food and Rural Affairs is as follows:

  • During moderate air pollution you should consider reducing strenuous physical activity, particularly outdoors, if you experience symptoms such as sore eyes, sore throat or increased coughing.
  • During high air pollution you should reduce strenuous physical exertion, particularly outdoors, and particularly if you experience symptoms.
  • During very high air pollution you should avoid strenuous physical activity.

You can find information on the air pollution level in your area at http://uk-air.defra.gov.uk/forecasting/. This site also gives a five-day forecast of pollution levels.

Rare Diseases Day 2014

The PCD Family Support Group attended along with associates of the Ciliopathy Alliance a reception for Rare Diseases held by Genetic Alliance at the House of Commons on the 26th February 2014 to hear about the NHS England’s plans for delivering commitments on the UK Strategy for Rare Diseases.

Speakers included Earl Howe who is the minister who is responsible for quality at the Department of Health and Dr. Beverley Searle who spoke about her daughter Jenny’s Unique story. An enjoyable afternoon was had by all and it was a great opportunity to learn about other conditions.

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PCD Day 21st June 2014

The next PCD Day will be held on Saturday, 21st June 2014 at the David Lloyd, Livingstone Drive, Milton Keynes MK15 0DL from 10.30 a.m. to 4 p.m.

All people and families affected by PCD are welcome to attend. The aim of the day is to get a better understanding of the condition and to share experiences with others. There will be talks on physiotherapy, ear nose and throat research and day-to-day advice on managing the condition. The children will be entertained and we will give you lunch. Please let us know any special dietary requirements.

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Research Event 20th February Southampton

Dr Jane Lucas, PCD specialist will be speaking at a children’s research event on 20 February at Southampton General Hospital. Dr Lucas will talk about her team’s research aimed at ensuring that children with PCD stay healthy throughout childhood, Southampton’s role as one of only three national PCD centres and her work to help improve care across Europe.

The event will run from 6pm - 8pm, with additional talks from Dr Jay Self a consultant in Southampton’s paediatric ophthalmology clinic and senior research sister Michelle Casey, from the paediatric nursing team within Southampton’s NIHR Wellcome Trust Clinical Research Facility.

For bookings and enquiries, please contact please .(JavaScript must be enabled to view this email address) or call 023 8120 6065.

PCD Quality of Life Questionnaires- update

We are delighted to be assisting with the development of quality of life questionnaires ‘QOL-PCD’  for children, teenagers, adults and parents of people with PCD. Over 140 PCD Support Group members have helped develop QOL-PCD by being interviewed about factors that are important for patients and also by completing postal surveys. The national PCD centres will use the QOL-PCD to help monitor how patients are progressing. QOL-PCD will also be used to provide a patient perspective on how well a new treatment works either on an individual basis or in clinical trials. This is important because the measures currently in use (eg. lung function tests) are not always good at picking up problems and don’t take into account issues such as nose and sinus problems.

Southampton is leading this international initiative through the BESTCILIA programme which is funded by EU. The work is being supported by the Royal Brompton Hospital and internationally by hospitals in United States, Canada and Ireland. Next year it is hoped to include Leicester, Leeds, Bradford and hospitals in Australia.

Design of QOL-PCD for adults, adolescents, children and the parents of children with PCD is complete. The questionnaires will be available for use in a paper format and also an electronic form that you can complete from home or in clinic. For children a simple speaking electronic questionnaire has been designed so that they do not need to read.

In early 2014, testing (or ‘validation’) of QOL-PCD will take place to ensure that the questionnaires measure what needs to be measured. We hope that many of our members will be able to take part in this process.  You will be asked to complete the QOL-PCD either electronically or using ‘pen and paper’ on several different occasions.

QOL-PCD is already being translated to other languages, to allow use of the QOL-PCD in care and research of PCD patients internationally.

 

BTS Conference December 2013

The PCD Family Support Group attended the BTS Winter Conference last week and our thanks go to the team from the Royal Brompton Hospital who manned our stand.

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On Thursday, Fiona Copeland (chairman), co-chaired with Professor Andy Bush, a joint BTS/BPRS symposium entitled ‘Rarities: Really Rare?’.  The aim of the session was to offer the delegates an understanding of latest research into rare childhood lung diseases. Professor Philip Beales talked about Cilia (including PCD), Professor Matthias Griese about Children’s Interstitial & Diffuse Lung Disease (www.childlungfoundation.org)  and Dr. Steve Cunningham about Obliterative Bronchiolitis (www.breathtakers.org.uk). The session was well attended.

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UK Patient Survey 2013

We know that Christmas is always a busy time, but if you live in the UK, please can you complete a short survey as an adult or as a parent/carer of a child with PCD.

The PCD Paediatric Management Service is now fully funded by NCG (a special part of the NHS) and this money is ring fenced so that this service can continue to be delivered despite NHS cuts.  As part of this funding the PCD Family Support Group have to show the commissioners that the service is working well and that we have consulted the patients that use the services. 

We hope that the results of the service will also help us ascertain the requirements for an adult service which we hope we can also get funded in the same way.

Please can you complete this short survey asap and let us know your views?

 

PCD Parent’s Evening Bradford

Our first Parent’s evening was organised by the Leeds/Bradford PCD Team on Tuesday,  24th September 2014 at The Thornberry Centre in Bradford.

The evening was an opportunity for local families to meet each other and for them to all learn more about the new PCD Service and the Support Group.

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Dr. Chetcuti, Dr. Moya, Lynn Schofield (physiotherapist), Alison Truscott (PCD Nurse) and Fiona Copeland (chair of PCD Support Group) all spoke.  The families found the discussions really interesting and one Mum said ‘I have learnt more this evening than I have in the two years since my son was diagnosed’.

We hope to make this a regular event

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Flu Jabs

It is recommended that all patients with PCD have an annual flu vaccination. There are now two types of ways to deliver this vaccination – the LAIV which is delivered via the nose or by injection. 

We have been advised by our PCD Specialists that they recommend that all PCD patients continue to have the vaccination by injection. 

Unaffected siblings that are offered the LAIV should receive it as it is likely to be more effective in this group than the injection. They may be slightly symptomatic after it (congested nose, cough), if so, they should take the same cross-infection precautions as if they have a cold i.e. good hand washing and avoidance of coughing and spluttering all over other family members.

If they have already received the nasal flu vaccination there is no need to be alarmed, it is unlikely to be a problem but if they become symptomatic with increased cough they can discuss with their PCD centre with regard to starting an antibiotic.

For more information then please contact us or your Respiratory Nurse Specialist.

 

Would you like to help out the PCD Support Group but would like some training?

Do you or someone you care about have PCD or another lung condition that you wish more people understood? Have you had a good experience with a doctor or nurse that you want to share to improve other peoples’ care? Have you heard about a change in policy or law that you think is wrong or unfair and would like to have your say?

The European Lung Foundation have launched an online learning resource to prepare patients and carers to actively engage in research, guideline development, advocacy and media activities. To find out more please visit the European Patient Ambassador Programme website.

 

Are you a budding photographer?

The EURORDIS Photo Contest 2013 gets underway today, inviting anyone with an interest in rare diseases to share their most beautiful and original images.

Besides giving participants the chance to win some great prizes, the EURORDIS Photo Contest is an opportunity to communicate visually the many diverse facets of living with a rare disease. Contest finalists will have their work displayed during the European Conference on Rare Diseases and Orphan Products (ECRD), taking place in Berlin in May 2014.

It would be a great change for us to spread the word about PCD – so please get snapping and submitting your photos.

Read more

BESTCilia

We are delighted to be working in conjunction with Southampton and the Royal Brompton on BESTCilia which is funded by the European Commission for Community Research and Development Information Service (CORDIS)

We have already contributed a family story to the ERS PCD Sharing Knowledge and Experience Across Europe Course and we are working closely with Southampton whilst they develop the Quality of Life Questionnaires.

We are currently looking for PCD Families with children/teens and their parents who could help check the Quality of Life Questionnaire. Can you spare 30 minutes to be interviewed on the phone? If so, please contact us .(JavaScript must be enabled to view this email address)

Leeds/Bradford Parent’s Evening 24th September 2013

Are you a parent/carer of a PCD child/children and live near Bradford? The PCD Team based in Leeds/Bradford are organising a parent’s evening for you to get together to share experiences, learn more about the new PCD Management Service and be able to talk to experts about PCD in an informal setting.

Tuesday, 24th September 2013 from 7 p.m. to 9 p.m. at The Thornbury Centre, Leeds Old Road, Bradford, West Yorkshire, BD3 8JX Free parking available.

Please RSVP to Georgina Perry Tel: 0113 3926335

Click here for a map.

 

Results of Lung Clearance Index Study at the Brompton

One of our newest pieces of research on PCD has been accepted for publication last month (“Lung Clearance Index and High Resolution Computed Tomography Scores in Primary Ciliary Dyskinesia”, the abstract is available online here). This study looked at how lung function tests compared with CT scans in patients with PCD, and how this relationship may be different from people with cystic fibrosis (CF). Volunteers were recruited from the PCD clinics at the Royal Brompton Hospital.

We found that these relationships between lung function tests and CT scans was very different in PCD compared to patients with CF. In CF, both spirometry (the lung function “blowing test” normally encountered in clinic) and lung clearance index (LCI – a newer type of lung function test which we are doing at the Brompton) were both very strongly related to how abnormal CT scan results are, in PCD this wasn’t the case at all, and neither test predicted well what results a PCD patient might have on CT scan. We also found that in general people with PCD have much more normal CT scans than people with CF.

This means a few things that are of interest to the PCD community. Firstly, it confirms that PCD and CF are not the same as one another, and their responses in these sorts of tests can be very different, so this must be taken into account when treating people with either of these conditions. Secondly, it means that people with PCD on average suffer less severe damage to their lungs as seen on a CT scan than people with CF do, particularly in the case of bronchiectasis.

Though in PCD neither lung function test correlates that well with damage seen on a CT scan, both types of test can be abnormal in PCD, and some people will have one normal with the other one abnormal, and vice versa. This is because LCI and spirometry show abnormalities in two different regions of the lung, spirometry more the large airways and LCI more the small airways. Both regions could be involved in PCD lung disease and our results show people with PCD can have abnormal results in either or both of these tests, so it is important we monitor as much of the overall lung health of people with PCD as possible. Our results show there is no single test that is able to give us all the information in PCD. In CF these tests give us much more similar information to one another.

We are hoping to do more research around this in the future, including some work looking at how LCI changes over time in PCD and whether it can predict deterioration in PCD lung disease, and some looking at patients with mild PCD lung disease and what may be the most useful lung function test for them.

Many thanks to all the volunteers and their families who took part in our research, and to Fiona and the PCD Family Support Group for helping us share this with you.

 

Samantha Irving

Paediatric Respiratory Physiologist - Mass Spectrometry

Royal Brompton Hospital

020 7352 8121 ext 8233

Justgiving Statement

As you will be aware the PCD Family Support Group use Justgiving to process their donations and fundraising. We have received the following statement from them to reassure our donors that the money they donate will arrive safely with us.

“The news that charitygiving.co.uk has closed down should act as a reminder to charities and donors to ensure they are giving through a route which separates out and ring-fences all donations from the provider itself. At JustGiving we have safeguards in place to protect all donations made through the site and, uniquely, we ring-fence all donations in a separate trust account, passing these on to the charity within three days of a donation being made.

Building a robust and secure online giving platform requires huge levels of investment, which is why JustGiving operates as an independent company. Our model enables us to continuously invest in the latest technologies, including state-of-the-art security measures, for our users and charity members so that people can give with absolute peace of mind.”

Zarine Kharas, JustGiving CEO

Are you a PCD Family who live in Wales?

The Genetic Alliance has initiated a project which aims to raise awareness and improve access to specialised services and medicines for patients in Wales with rare conditions. As part of this, they are looking for help from patients and carers as we want to understand the current issues that exist in accessing specialised services in Wales.

They would like to hear about the experiences of patients with rare conditions who have identified difficulties in accessing specialised services in Wales. These issues could relate to problems in gaining access to services which are provided by specialist centres in England (such as PCD Diagnostic Testing or access to PCD Clinics in one of the four specialist centres in England) or for medicines where your Local Health Board refuses to approve funding for medicine that has been recommended for use in Wales.

Please can you contact us to find out more information.

Free Postcode Lottery

July is Charity Month at FreePostcodeLottery.com

Sign up to the daily free prize draw here before the end of July and nominate us as your charity.

Then if your postcode is drawn we both win at least £20 (more if a rollover). And, if we are the most popular charity on the day a prize is claimed by someone who hasn’t chosen a charity, the matched donation will come to us. So, we need your support to get to the top spot!

What’s more from July onwards whenever you win you will be given the option to double your prize fund and donate the lot to us.

It’s totally free to sign up and enter your postcode. Your details are kept safe and no information is shared with marketing or other companies.

PCD Day report

PCD Day was a great success, for more information please click the link below to see full details of the day.

PCD Day Report

New Bronchiectasis Website

Please have a look at this new website www.bronchiectasishelp.org.uk

Robert in his own words is ’ I am a long term patient with bronchiectasis and always had this burning desire to construct a support website to help patients to understand and to cope with and self manage the symptoms of this disease. I wanted something different and patient friendly and giving day to day practical advice and information of how to go about taking control by self management strategies. It took a long time with many discussions with specialist health professionals and selecting crucial information from my own experience of coping and managing.’

PCD Day/AGM

Our next PCD Day/AGM will be held on Saturday, 22nd June 2013 from 11 a.m. to 4 p.m. at the David Lloyd Leisure Club, Livingstone Drive, Newlands, Milton Keynes, Buckinghamshire MK15 0DL
     

  **** PLEASE NOTE NEW VENUE ****


All people and families affected by PCD are welcome to attend. The aim of the day is to get a better understanding of the condition and to share experiences with others. There will be talks on physiotherapy, ear nose and throat problems and the new PCD Management Service. The children will be entertained and we will give you a delicious lunch!
Please let us know you are coming with any special dietary requirements via the website Contact using with any special dietary requirements via the website Contact us

Are you an adult with PCD interested in research?

The Brompton is starting several novel research projects in adult patients with PCD and is looking for volunteers who would be prepared to participate. Studies include an assessment of chloride channel function in the cells lining the nose. Proper functioning of this channel is important in preventing the dehydration of airway secretions or phlegm. If you would like to know more about these projects, please contact Amelia Shoemark in the PCD department at the following address: .(JavaScript must be enabled to view this email address)

Latest Newsletter Spring 2013

We have recently made the decision, due to resourcing and costs issues, to publish our newsletters via email only.  If you have not received a copy and would like to hear about the work that the PCD Family Support Group undertakes then please can you sign up via our website by clicking on the ‘Sign Up Newsletter’ on the newsletter page or alternatively use the link via our Facebook page.

Disability Living Allowance

Personal Independence Payment (PIP) started to replace Disability Living Allowance (DLA) from 8 April 2013 for people aged 16 to 64 with a health condition or disability.  Please see our updated Benefits page for more information.

PCD Research Update

PCD is an inherited condition, caused by changes or ‘mutations’ in any one of at least 19 different genes in our DNA. The normal functions of these 19 different genes is to make proteins that form part of the cilia structure, or that work to assemble the cilia. Certain gene mutations are more commonly detected in PCD families than others, for example the DNAH5 gene is still considered the most common cause of PCD. We know that patients with mutations in different genes can show different structural problems in their cilia e.g. absent dynein arms, radial spokes or central pairs (shown in cilia cartoon), while some genes cause a small change that is difficult to detect (DNAH11, HYDIN and CCDC164 genes). These different gene mutations cause different changes to the cilia beating pattern, and PCD patient’s cilia can range from being completely static, to still retaining some beating. Despite this variability, it is interesting that all the 19 known genes cause identical clinical symptoms - except for the CCDC114 gene where mutations do not seem to affect fertility much, and the RSPH9, RSPH4A and HYDIN genes that do not cause situs inversus. Also, the RPGR gene possibly causes PCD together with retinal degeneration.
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We are grateful to the PCD Family Support Group for funding attendance at conferences to present our research data and network with other researchers, and also for recently part funding an ‘injection rig’ being used by our team at the UCL Institute of Child Health. We use it to look at the effect of PCD gene mutations on cilia functions using the zebrafish as a useful model for PCD, since they use the same genes for cilia movement as humans, and cilia motility in fish is easily measured in order to assess the effect of DNA mutations.
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Despite a lot of progress in genetic research, the gene mutations that cause PCD in most UK patients are still unknown. If we determine the genetic cause in patients, this will develop genetic tests to improve diagnosis, and to allow for prenatal and carrier testing in PCD families. We will also improve our understanding of cilia functions and what goes wrong in PCD, paving the way towards future gene-based therapies. We are currently recruiting for our genetics study at all the UK diagnostic centres, to find out which genes cause PCD in the UK.  The Charity Action Medical Research have recently funded this project, to help develop a gene panel (‘PCD chip’) for rapid diagnostic screening. We will update PCD Support group about our research, and for further details on how to be involved contact .(JavaScript must be enabled to view this email address).

Are you waiting for a PCD Test?

There is currently a waiting list for PCD tests from the Leicester Centre.  If you are waiting for a test and are willing to travel to the Royal Brompton in London or to Southampton General Hospital – please ask for a referral to one of these centres. 
For more information Please contact us or telephone our Help Line on 0300 111 0122

Climbing Mountains for PCD

Aidan Brown who works for Ideasbynet  (the company we use for our marketing materials) has given himself a challenge to climb 12 mountains in 12 months. He very kindly agreed to wear one of our PCD Family Support Group t-shirts to raise awareness of the condition and has also set up a justgiving account. To read about his climbing you can read his blog

Do you own a vehicle that you want to dispose of or sell?

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Do you own a vehicle that you want to dispose of or sell? Then you can make a real difference for a charity this year!
Giveacar is a UK based fundraising organisation that organises car donation for good causes in the UK, like The PCD Family Support Group.
They provide a FREE service which is available throughout the UK, and can work with you hand-in-hand in the following ways:

  • They can arrange the collection of the vehicle at no cost to you;
  • Depending on its age and condition, they can either recycle it at an authorised facility or send it to a salvage auction;

Scrap donations raise an average of £100 for the charity, with auction cars often raising much more. Since Giveacar was set up in 2010, the organisation has raised over £950,000 for over 800 charities!
To arrange donation of a car to The PCD Family Support Group, visit http://giveacar.co.uk/ or call 020 7736 4242, quoting PCD Family Support Group as your preferred charity.

PCD Day/AGM

Our next PCD Day/AGM will be held on Saturday, 22nd June 2013 from 11 a.m. to 4 p.m. at the David Lloyd Leisure Club, Livingstone Drive, Newlands, Milton Keynes, Buckinghamshire MK15 0DL

        **** PLEASE NOTE NEW VENUE ****


All people and families affected by PCD are welcome to attend. The aim of the day is to get a better understanding of the condition and to share experiences with others. There will be talks on physiotherapy, ear nose and throat problems and the new PCD Management Service. The children will be entertained and we will give you a delicious lunch!
Please let us know you are coming with any special dietary requirements via the website Contact us

Another way to explain PCD

We are very grateful to Liquid Productions for the fantastic animation. Please show all your friends and family.


Click the play button below to watch the animation.

 

 

We need your help?

Do you have some spare time that you may be able to help us?  We are looking for volunteers to ask as local PCD representatives based around the four specialist centres. See advert. Please contact us if you require further information.

Congratulations to Professor Bush

For all of you paediatric patients that attend the Royal Brompton – Professor Bush has been appointed Head of Paediatrics at Imperial College.  Great news for Professor Bush and for getting PCD out to the wider research communities.

http://www.rbht.nhs.uk/about/news-events/andrew-bush-appointed-head-of-paediatrics-at-imperial-college/

Autumn 2012 Newsletter

The latest newsletter is now available to read online.

To read the newsletter please click this link: Newsletters

If you would like to be added to our mailing list then please email your contact details to .(JavaScript must be enabled to view this email address)

New Paediatric PCD Management Service

The National Specialist Commissioning Team (NSCT) has commissioned a diagnostic service for Primary Ciliary Dyskinesia since 2006. To date the service has successfully diagnosed over 200 children with the condition, but subsequent follow-up has remained a post-code lottery; although some patients receive excellent management in line with national and international consensus guidelines many receive inappropriate or no respiratory or ENT care following diagnosis (PCD Support Group Survey, 2011).  This has led NCST to commission a service to provide specialist multidisciplinary team (MDT) care for PCD, which will become fully operational from 2013. The four centres, based in Leeds/ Bradford, Leicester, London and Southampton, will provide annual review by a multi-disciplinary team of ENT and respiratory PCD specialists for children from England and Scotland. Specialist advice will be available to all professionals involved in the care of these patients. Children from other nations will be welcome in accordance with local and national commissioning policies.

The PCD MDTs will be based at Leeds/Bradford, Leicester, London (Royal Brompton Hospital) and Southampton.  All children with PCD will be invited for annual review at the PCD centre or at an outreach clinic by the PCD MDT. This will ensure that all children have respiratory and ENT assessment by specialists in PCD management at a one stop clinic. An individualised management plan will be devised following the review. This will include guidance for self-care and care provided by the local paediatric or respiratory paediatric services. The majority of care will be delivered locally, but the PCD MDT will be available to review patients if there are concerns. The PCD MDT provide a bronchoscopy service. The PCD service will develop guidelines for Primary Care and hospital health care professionals to use in conjunction with individualised management plans. The evidence base for treatment of PCD is currently based on expert opinion; the collaborative research of the centres and use of the service’s national database will facilitate the first fully powered clinical trials in PCD. Telephone advice will be available from the MDTs during working hours.

As new patients are diagnosed with PCD they will be provided with follow-up options, including shared care between a PCD centre and their local services.  Patients who have previously been diagnosed are invited to access specialist PCD service, by contacting any of the PCD centres.  The PCD Support Group can provide advice to parents or patients regarding management options and other aspects of care.  Please contact us.  if you require further information.

We are also working closely with the NSCT to allow this service to be commissioned for adult care too – we will keep you posted of the progress we make.

European Respiratory Society PCD Course for Medics

Are you a medic with an interest in PCD?  The European Respiratory Society are holding a two day course in November 2013 in Naples.  The PCD Family Support Group will be going along to give the ‘Patient’s View’.  Please pass details on to your colleagues.

http://www.ersnet.org/education/courses/item/4499-primary-ciliary-dyskinesia-sharing-knowledge-and-experience-across-europe.html

Have you got 5 minutes to do a survey for the European Lung Foundation?

Please can you support the ELF by completing a short survey about living with a chronic cough.

http://www.european-lung-foundation.org/16689-chronic-cough.htm

Cilia in Development and Disease - Cilia 2012 Conference

Cilia in Development and Disease - Cilia 2012 Conference

16th-18th May 2012

The Ciliopathy Alliance an organisation which we are founding members was set up in November 2010 with the aim of improving lives of children and adults affected by diseases where the route cause is faulty cilia.

The conference was organised by the Ciliopathy Alliance to enable clinicians, scientists and Patient Groups from around the world to talk about Cilia.  With over 280 delegates it was a huge success.

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On Wednesday evening Mick and Fiona attended a reception at the British Medical Association and met with the delegates and other patient groups.  There were a number of patients there too with LMBBS, Joubert Syndrome, and Retinitus Pigmentosa.  It was a great opportunity for us to network with some of the PCD scientific experts from around the world and to be able to tell them what it is like to live with PCD from a patient’s perspective.  Professor Joe Gleeson spoke about with the advances in genetic research which has enabled physicians with a better opportunity to understand each patient’s disease and provide scientists with new opportunities to find new treatments.

On Thursday, the first day of the conference, Fiona attended with Nurdin Hajinur (final year medical student who has a sister with PCD).  The first session was given by Heymut Omran (Professor from the University of Munster, Germany and a world renowned expert on PCD).  He explained how a new gene for PCD has been discovered which may help, in the future, diagnose patients who have unconfirmed PCD but still have all the symptoms.  There were also interesting talks on the beat pattern of cilia and how it is formed.  There were also a number of poster discussions (posters which detail the research programmes and their findings which the research explains to you) and 14 of them were specifically about PCD.  The majority of others were about the structure of the cilia and how they are formed.  All of which are really important to understand in order to find treatments for ciliopathic conditions.

On Thursday evening we were treated to a conference dinner at the Russell Hotel in the Titanic Ballroom (designed by Charles Fitzroy Dolls who was the architect for the interior of the Titanic).  This was another opportunity to network with other scientists and the first time I have ever eaten whilst discussing the merits of research using Zebra fish.

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On Friday, we had another full day of lectures mostly on the development of Cilia and another round of poster discussions. One of the posters was about gene therapy for the most common form of PCD which is a result of a defect in the gene DNAH5. Mustafa Munye who has been working on this project received a prize for this work. He is very keen to talk to patients with PCD to better understand the disease and is planning to attend our PCD Day event in June.

All in all the conference was a big success and there was excitement that the ‘community’ who wanted to take part seemed to be much larger than we had anticipated. Personally, it was a particular pleasure for me to have a chance to learn about some of the biology that underpins ciliopathies. I also see that as a result of this there will be many more collaborations between the clinicians, scientists and patient groups and I know that as a result of this we will see new treatment options/cures being developed.

Fiona Copeland

Chairman of PCD Family Support Group

 

New Facebook Page

We have had to change our Facebook page so that we can add some new functionality e.g. sign up for our newsletter. If you haven't joined then please find us at https://www.facebook.com/PcdFamilySupportGroupUk#!/PcdFamilySupportGroupUk. If you are already on the old page then please can you transfer to the new asap by 'Liking' it.

Royal Brompton Update - Register your interest in engagement exercise

You will no doubt of heard that the Brompton lost their appeal about the legality of the Cardiac Surgery Safe and Sustainable review a few weeks ago. The London SCG are planning on making a final decision at the beginning of July. However, we do have the chance to ‘air’ our concerns over the possible closure of the PICU with the London SCG engagement. It has been highlighted that the The London SCG website has asked for people to register their interest in participating in the promised engagement exercise.

The website also suggests… that the engagement exercise is now to take the form of a series of engagement "events", rather than responding in writing or via the web to a series of specific questions in the light of an information pack. It is more than possible that the London SCG website announcement is incomplete, and that written responses will be possible. It is plainly important that it should be possible to respond in writing as:

-Attending a meeting in London at short notice may not be practicable for many;

-We have a fear that meetings could be carefully managed to deny people the opportunity to express the sorts of concerns expressed by the charities, Professor Elborn and Dr Gibson in correspondence with the JCPCT.

We would encourage everyone to register their interest in participating in the exercise by sending an email to .(JavaScript must be enabled to view this email address).

Although the exercise is expressly directed to patients, and parents of patients, who might potentially need to use the RBHT PICU, that would include ALL paediatric respiratory patients in London as the Brompton PICU frequently accommodates respiratory patients from other respiratory centres such as GOSH due to a lack of capacity at those centres.

If you would like help on modeling your response please email .(JavaScript must be enabled to view this email address) or Fiona via the contact us page.

 

Royal College of Paediatrics and Child Health Need our Help

Professor Neena Modi, who is academic Vice President of the Royal College of Paediatrics and Child Health, believes that children could be better served in research and is trying to promote the College's research agenda. She would like to hear from parents and or children who have been involved in research, or see the need for it in children in particular, to produce research stories for the College website. If you wouldn't mind being contacted by the College, please could you contact us giving permission for the college to contact you.

 

Family Day and AGM, 23rd June 2012

Please let us know if you can come to this years Family Day - to be held in Great Brickhill Village Hall MK17 9BA from 11 a.m. to 4 p.m.  This is a great opportunity to learn more about PCD and meet other people affected by the condition.  RSVP via the contact us page.

PCD Day and AGM

PCD Day and AGM will be on Saturday, 23rd June 2012 from 11 a.m. to 4 p.m. at Great Brickhill Parish Hall, Rotten Row, Great Brickhill, Milton Keynes MK17 9BA.  This is a great opportunity to learn more about PCD and meet other people affected by the condition.  All of the family are welcome to attend.  RSVP to .(JavaScript must be enabled to view this email address) or by telephone to Gary on 01280 815428

Cancelled - Adult Lunch 1st April 2012

We have been trying to organise another adult lunch for this Sunday, 1st April in London but we haven’t had a very good response.  We have decided to cancel the event but would like to organise another one in September and promise to give you plenty of notice so that you put the dates in your diaries!

We would of course love to see you at PCD Day on Saturday, 23rd June 2012 – please let us know if you can make that. http://www.pcdsupport.org.uk/index.php/news_detail/pcd_day_and_agm/  The day is open to all patient with PCD – children or adults and is a great opportunity to learn more about the condition.  We will be have medical speakers, physiotherapists doing a workshop and a singing session to show you how to get the most out of your breathing using your diaphragm.

Spring 2012 Newsletter

The latest newsletter is now available to read online.

To read the newsletter please click this link: Newsletters

If you would like to be added to our mailing list then please email your contact details to .(JavaScript must be enabled to view this email address)

Volunteers needed for Cilia 2012 Conference 17th – 18th May 2012

We are having a stand at the Cilia 2012 Conference.  Would you be able to spare a few hours to man our stand?  www.cilia2012.org/ If so, please contact Fiona on 0300 111 0122 or email at .(JavaScript must be enabled to view this email address)

Raise funds for PCD through The Giving Machine

You can also fundraise for the PCD Family Support Group when online shopping by signing up for www.thegivingmachine.co.uk.  Every time you shop the retailer will make a donation to us.

Give for Free when you shop online at TheGivingMachine

Non-invasive physiological biomarkers in health and disease – a research study at the Royal Brompt

This study is currently recruiting at the Royal Brompton and, as PCD patients are an important part of the study, we wanted to introduce this research so you know what’s happening if you see us in clinic. The study is about comparing the results of various non-invasive tests of lung function with each other, and looking at how they vary between people with different conditions.  Non-invasive means tests that don’t require blood being taken, only breathing in different ways into different machines.  A big part of this is looking at ways in which these tests are similar, and perhaps more importantly ways in which they are different, between people with PCD and people with cystic fibrosis (CF).

Though most people are used to doing spirometry (our standard blowing test) in clinic, these tests look at other measures of lung health as well.  For example,  Lung Clearance Index (LCI) looks at how efficient ventilation throughout the lung is – it’s produced really interesting results in CF in recent years and we are very keen to see what it shows in PCD; Exhaled Nitric Oxide (FeNO) is a measure of a gas that lungs give off in larger amounts than normal when they are inflamed; and Airway Mucosal Blood Flow (Qaw) is designed to measure how good the blood supply to the lungs is in people with respiratory disease, as detecting and treating any problems with it is very important to keep lungs healthy.

At the moment we are specifically recruiting children who attend the Royal Brompton clinics so unfortunately cannot accept other recruits, but the results of our research will be published when we’re finished and we’ll make sure the PCD network is kept informed.

If you have any questions about the study, please contact Sam via email at .(JavaScript must be enabled to view this email address)

Or alternatively you can contact the PCD Family Support Group via the contact us page.

Another Teenager spreading the word about PCD

Darryl Mather is helping to raise money but also awareness of PCD. http://www.gazettelive.co.uk/news/teesside-news/2011/11/03/poorly-grove-hill-teen-dedicated-to-raising-cash-for-charity-84229-29709630/

Colgate Periogard Mouthwash Warning

Please see link below about the recall of this mouthwash.  If you have PCD you should stop using it asap. http://www.webmd.boots.com/news/20111104/colgate-mouthwash-recall

Great South Run 2011

Fiona and Euan Copeland together with Charlotte Cookson (Fiona’s sister) ran the Great South Run on Sunday, 30th October in aid of the PCD Family Support Group.  They were filmed by ITV for the local news and featured on the Great South Run Highlights programme.  http://db.tt/pX6qVP5l  You can still sponsor them at http://www.justgiving.com/fiona-euan

Summary of Royal Brompton Paediatric Patients Meeting – Monday, 7th November

On 7th November 2011, a Parents Meeting was convened to discuss the Future of Paediatric Respiratory Services at the Royal Brompton in light of the proposed Paediatric Cardiac Service Reconfiguration in London (reduction in service from 3 paediatric cardiac centres to 2 centres in London) and the resultant closure of the PICU (Paediatric Intensive Care Centre) at the Royal Brompton.

Fiona Copeland, Chair of the PCD Support Group was in attendance presenting the concerns of families with children of PCD, alongside the CF Trust and Asthma UK. The concern that Paediatric Respiratory Services were being negatively impacted by improvements in Cardiac services was stressed by all parties alongside the practical implications of the Brompton not being able to perform e.g. bronchoscopies, IVACs etc, without the back up of a PICU, for the care of patients with PCD.

Whilst the future for Paediatric Cardiac Service and so Paediatric Respiratory Services at the Brompton is yet to be determined (7th November 2011 – there was a judicial ruling quashing the consultation due to the way in which cardiac research had been evaluated http://www.bbc.co.uk/news/health-15629222), either a shared care arrangement with Great Ormond Street (GOSH) or a full transfer of Paediatric Respiratory Services to GOSH may be a future possibility, but ONLY with the following assurances in place:

  • A process of full public consultation before any final decision is taken as to whether to de-designate the Brompton as a paediatric cardiac surgery centre
  • Adequate and dedicated space for paediatric respiratory clinics and inpatient capacity at any new potential site
  • Adequate funding for a respiratory service of the current quality to be maintained (PCD Family Support Group are still working with the National Commissioning Team to progress our application for protected National Funding for PCD Services)
  • Prominence of on-going research programme to support clinical treatment for Children with Respiratory conditions
  • Fully supported transition arrangements for Children and Parents transitioning to a new centre of care (where they will be under the care of the Brompton team)
  • Fully supported transition arrangements back to the Brompton as adolescents/ adults in future years.
  • To recap, the future of Paediatric Respiratory Services at the Brompton is as yet to be determined and is dependent on the outcome of the Paediatric Cardiac Review in Spring 2012. The PCD Family Support Group will be maintaining an active role in this matter and will be keeping our members fully updated of developments in upcoming newsletters, but if you have any questions or concerns in the interim, please contact Fiona at .(JavaScript must be enabled to view this email address) .

     

    Autumn 2011 Newsletter

    The latest newsletter is now available to read online.

    To read the newsletter please click this link: Newsletters

    If you would like to be added to our mailing list then please email your contact details to .(JavaScript must be enabled to view this email address)

    Questionnaire

    We have recently sent out Questionnaire’s to our mailing list re ‘Quality of Life in PCD’ research which is being conducted by Dr. Jane Lucas who is based at the University of Southampton. 

    If you haven’t received any information and would like to take part then please contact Mr. Neil Botting by email .(JavaScript must be enabled to view this email address) and he will send you the relevant information.

    Helpline

    We have a new telephone helpline 0300 111 0122  - please leave a message with your name, telephone number and a brief description of the query and someone will call you back within 24 hours.

    Twitter

    Fiona has joined Twitter @pcdmum and is hoping to use it to use it to raise awareness of a number of things close to her heart including PCD. 

    Please follow her! http://twitter.com/#!/pcdmum

    Jon Waterman

    Jon is an Amercian musician who happens to have PCD.

    To raise awareness he has a page on his website explaining what PCD is all about.

     

    Maybe you might like to have a look or do something similar on your websites?

    http://www.jonwaterman.com/home.html

    PCD Angels

    Debbie (Mum to Malachi who has PCD) has started selling PCD Angel necklaces www.pcd-angel.co.uk

    For each necklace sold Debbie will donate £10 to the PCD Family Support Group – so please buy lots of them for friends and family to raise awareness of PCD and funds.

    Fundraising

    If you would like to raise funds for the PCD Family Support Group the easiest way is to set up a justgiving page and ask your friends to donate or sponsor you there.

    Alternatively you can now set up a ‘texting’ service so people can just text you their sponsorship money.

    For more information see www.justgiving.com

    If you need help with this then please contact us.

    Royal Brompton Hospital Update

    Please find details on the Royal Brompton website about their judicial review into the Safe and Sustainable Children’s Cardiology Review

    http://www.rbht.nhs.uk/about/news-events/judicial-review-granted-on-childrens-heart-surgery-consultation/

    Further information can be found on how to support the Royal Brompton SOS campaign can be found on http://www.thebromptonfountain.org.uk/home.html

    The PCD Family Support Group would like to reassure you that we will continue to work closely with the three centres that specialise in PCD to ensure that any changes to the configuration of the Brompton will not affect the PCD services.

     

    Jeans for Genes Day - 7th October 2011

    Have you signed up for Jeans for Genes Day on Friday, 7th October, 2011?

    We have been very luck to receive a grant this year to fund PCD Day so please support this great charity!

    For more information please click on this link:www.jeansforgenes.com

    PCD Day 2011

    We had a fantastic day on the 25th June.  For those of you who were unable to attend please click here to see the full report from the day

    Children’s Congenital Cardiac Service Review

    As you will all probably know following a review of the Children’s Congenital Cardiac Services the recommendations have been made that all of our three PCD specialist centres hospitals will be affected by the changes that are proposed.

    Click below for more information:

    http://www.specialisedservices.nhs.uk/safe_sustainable/childrens-congenital-cardiac-services

    If your child attends the following hospitals you may wish to support their campaigns:-

    Royal Brompton Hospital http://www.rbht.nhs.uk/about/safe-and-sustainable/
    Southampton http://www.saveourheartunit.org/home.aspx
    Leicester http://www.uhl-tr.nhs.uk/formedia/hold-on-to-our-hearts-

    For more information please contact us

    Royal Brompton Hospital Petition

    Following a review of the cardiac paediatric surgery Childrens Heart Surgery Review one of the proposals is to remove paediatric cardiac surgery from the Royal Brompton Hospital.  As many of you will know this is one of three centres who specialise in the diagnosis and ongoing care of PCD patients

    This would have a direct impact on the care of all patients at the Royal Brompton as cardiac services for children do not exist in a vacuum. They are supported by other disciplines such as intensive care and anaesthesia. The consultation has neglected to take account of the wider implications that removing children’s cardiac surgery will have on the Trust and its patients:

    • The entire paediatric unit would collapse.  Without children’s cardiac surgery the hospital’s paediatric intensive care unit would close immediately, as the number of patients needing it would not be enough to make it financially viable.  Without paediatric anaesthesia and intensive care, the life-saving work of the hospital’s respiratory teams would also cease - both anaesthesia and intensive care are needed for many respiratory procedures, such as high-risk bronchoscopy
    • The adult congenital heart disease unit would be de-stabilised.  Within one to two years the effect of losing paediatric heart services would adversely impact on Royal Brompton and Harefield’s adult service, which cares for more patients with congenital heart disease than anywhere else in the UK.  Many of them are treated for pulmonary hypertension by another group of specialists within the Trust, one of just six centres in the UK accredited to treat this disease.
    • The health needs of 450 children with cystic fibrosis, PCD and other respiratory diseases.  The hospital hosts the largest service for children with cystic fibrosis and PCD in the country.  Any re-configuration therefore must include a detailed plan for the break-up and re-distribution of services such as the PCD diagnostic service (one of three centres in the UK), and the dispersal and re-location of its expert teams of staff.  The detrimental impact on Royal Brompton’s adult respiratory units, would soon be seen: 70-80% of adult patients progress from the paediatric service

    Please sign this petition to ensure that this doesn’t happen.

    http://www.thepetitionsite.com/1/save-royal-brompton-hospitals-childrens-cardiac-services/

    For more information you can also visit the Royal Brompton website http://www.rbht.nhs.uk/sos/

    Please also feel free to contact us if you need any further information.

     

    Fundraising and the Charity Commission

    There has been a lot of media interest into a charity raising funds for Alzheimer’s in the press today and how little of their money has been spent on research into this cruel disease.

    We thought it would be good to remind you we are a registered charity and that you can see our financial records via the Charity Commission website  or if you would like greater detail by writing to us via the Contact Us.

     
    We hope that this will put your minds at rest that any donations or fundraising monies that are received by the group are used appropriately.

    Adult Lunch

    A group of nine met up in central London in mid March for the second meeting of adults with PCD and their families.

    Following the success of the first event last year, people were keen to make a return trip to the Pizza Express on Baker Street. Although a couple of folk were sadly unable to attend at the last minute, there were also a few new faces to boost numbers.

    PCD folk of all ages - one or two who brought parents or partners - talked about everyday life and the baffling array of pizzas. But they were also keen to swap tips and thoughts about PCD and its treatments.

    Topics that came up included the level of satisfaction with patient care at the Brompton, approaches to physiotherapy, and the benefit of exotically-named gadgets like the NeilMed Sinusrinse, the Saltpipe and the PowerBreathe.

    A few people showed interest in helping with the running of the support group and after two hours or so the event wrapped up with many promising to attend the Family Day and any future adult lunch.

    Watch out for further info about the next get-together.

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    Rare Disease Day 2011

    Myra Tipping, Mick and Oliver Wilkin, Fiona Copeland and Dr. Claire Hogg were privileged to attend the launch of Rare Disease UK’s strategy document at the House of Commons on the 28th February.

    The document lays down comprehensive guidelines for improving services for people with rare diseases and can be downloaded from their web site www.raredisease.org.uk

    We were pleased to welcome a number of MPs as our guests including George Mudie, Iain Stewart and the Speaker John Bercow.

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    Spring 2011 newsletter

    We have just emailed and sent my post our latest newsletter.

    Please let us know if you wish to receive this by email in the future or let us know if you have recently changed your email address via contact us

    Scottish Event

    One of our members Debbie (Mum to Cameron aged 9 with PCD) has volunteered to organise a social event for PCD patients and their families in Glasgow in the next few months. 

    We would like to know if you would be interested in joining us to talk about PCD and meet other people with the condition – if so, please contact us

    .

    Lunch for Adults 20th March 2011

    We are holding another lunch on Sunday, 20th March 2011 at 12.30 p.m. at Pizza Express, Baker Street, London.  Please contact us if you would like to come.

    Rare Disease day

    We will be representing the PCD Family Support Group at a reception held at the Houses of Parliament on Monday, 28th February 2011.

    Please ask your local MPs to join the event.

    To find out more please see the Rare Disease Day website http://www.rarediseaseday.org/article/about-rare-disease-day

    Family Stories

    We are trying to spread the word about PCD to help raise awareness so that hopefully more children will be diagnosed at an earlier age.

    Do you have an interesting PCD story that you would like to share?  We would love to hear from you.  These can then be used in our newsletters, in presentations that we give and given to the media when opportunities arise. 

    Please Contact Us as soon as you can

    Flu update

    Do you have PCD or care for someone with it? Then if so, have you had your flu jab? 

    This year’s vaccinations cover Swine Flu and it is recommended that you have it.

    Please see the government website for more information. www.direct.gov.uk/en/swineflu/DG_177831?CID=SFlu&TYPE=sponsoredsearch

    Thanks for completing our PCD survey

    The PCD Survey is now closed.

    Thanks to everyone who participated. We have had over 100 responses and are currently collating the information.  We hope to publish a report by the end of February which will be highlighted in the Spring Newsletter.

    Cilliopathy Alliance UK Launch

    The launch day was extremely well attended despite the bad weather and tube strikes.

    Thanks to everyone that attended.  Further details of the day with photographs and details of the presentations will be published soon.

    New Rare Disease UK report

    A new Rare Disease UK report highlights a number of worrying issues experienced by patients and families affected by rare conditions. The report, “Experiences of Rare Diseases: An insight from patients and families”,  deals with the views and experiences of 600 patients and families affected by over 100 different rare conditions on a wide range of topics ranging from research to diagnosis, and access to care, information, support and treatment.

    Although some patients and families indicated positive experiences of timely diagnosis and good quality care and support from the NHS, unfortunately this is not the case for the majority of patients and families with rare diseases. There are over 6000 recognised rare conditions each with different symptoms and prognoses, yet the publication highlights how patients and families frequently face common problems. Some of the problems highlighted by the report include:

    • Significant delays in diagnosis.
    • Patients being misdiagnosed (often multiple times).
    • Patients “rattling around the system” having to visit multiple specialists before receiving an accurate diagnosis.
    • Difficulties in accessing information and support.
    • Fragmented and poorly coordinated care.
    • Patients and families having to attend multiple hospital appointments often at a long distance from home.
    • Problems during transition from paediatric to adult services.
    • A lack of effective treatments.
    • Inconsistencies in access to medicines.
    • A lack of information and opportunities to be involved in research
    • .

    Rare Disease UK is the national alliance for all those with an interest in rare diseases brought together to campaign for a strategy for rare diseases.

    The Chair of Rare Disease UK, Alastair Kent said:

    “Many people living with rare diseases and their families have to go through years of medical tests and procedures before an accurate diagnosis can be made. Not only is it often a battle to get an accurate diagnosis, patients and families then struggle to find out the medical impact of a condition and how to manage it, on top of having to cope with day-to-day life without adequate support.”

    “The results of RDUK’s survey hammer home the need for a co-ordinated UK-wide strategy for the diagnosis, treatment and research of rare diseases. This is a hugely important issue that needs to be tackled; patients and families should not have to face an inequitable level of care from the NHS because they have the misfortune of their condition being rare.”

    A copy of the report is available at: www.raredisease.org.uk/documents/RDUK-Family-Report.pdf

    For more information, or to request a copy of the report, please contact Stephen Nutt: .(JavaScript must be enabled to view this email address) 020 7704 3141

    Luton and Dunstable Coffee Morning

    Our first informal coffee morning was held on Saturday, 13th November 2010 in Luton.

    We had 8 families attend. The children all spent the morning doing lots of craft activities whilst the parents chatted about PCD.  Thanks to Liz and Nicky from Luton & Dunstable Hospital who organised it. Please let us know if you would like help organising a similar event in your area?


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    Top Doctors

    Congratulations to Professor Andy Bush and Dr. Rob Wilson who were both in the The Times ‘Top Doctors’ list on Saturday, 13th November 2010.  We are very pleased that both of these doctors specialise in looking after patients with PCD and are both members of our PCD Medical Board. Without Andy’s support and encouragement this group may never have started.

    Autumn 2010 Newsletter

    Please see our latest newsletter Autumn 2010 Newsletter

    If you wish to receive this via email or post then please let us know via the Contact Us

    Faseb Cillia Biology Meeting 2010

    We recently partly funded Hannah Mitchison to attend a meeting in America where the sole topic of conversation is cilia.

    To read about this then click on the link below:

    FASEB_cilia_biology_2010_meeting_report.pdf

    PCD Survey

    We are working with the three PCD diagnostic centres to get specific funding for the ongoing care of PCD patients.

    To help us better understand your needs please can you complete the survey, that is available through our website, so that we can feed back your opinion to the National Commissioning Group by the beginning of November 2010. Your views really matter so please take a few minutes to complete the survey.

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    To do the survey click on http://www.surveymonkey.com/s/pcdsurvey

    Thank you!

    Sunday, 12th September 2010 London Duathalon

    7 teams consisting of one runner doing 10km, one cyclist doing 20km and one runner doing 5km competed in the London Duathalon on Sunday in aid of the PCD Family Support Group.  The majority of the participants work at the Royal Brompton Hospital including the consultants Professor Bush, Dr. Hogg and Dr. Balfour-Lynn.  Fiona Copeland and husband Stuart also joined in!  So far over £2k has been raised.

    It isn’t too late to sponsor us www.justgiving.com/rbht

    CANCELLED EVENT – PCD STUDY DAY - Monday, 27th September 2010

    Unfortunately this event has been cancelled due to lack of participants. We hope to rearrange the event for Spring 2011.

    Rare Diseases Questionnaire

    Rare Disease UK is conducting a survey of patients’ and families’ experiences of access to care, treatment and support in the UK. This survey will be crucial in facilitating their campaigning and awareness raising work.

    The results of the survey will:

    • Help gain an understanding of some of the issues that matter to patients and families
    • Be put to politicians and policy makers to highlight areas of concern/good practice
    • Be published in a new RDUK booklet of patients’ and families’ experiences – this will be launched at a reception at the House of Commons in the autumn

    The survey should take no longer than 20 minutes to complete. There are boxes at the end of every page if you would like to elaborate on your answers – all the additional information they receive will be extremely helpful, especially to inform the report on a strategy for rare diseases.  Don’t worry if you feel that you can’t answer some of the questions just do as much as you can.

    The survey is spilt into sections looking into:

    • Research
    • Diagnosis
    • Commissioning and planning (treatment and specialist centres)
    • Information and support
    • Accessing coordinated care

    The deadline for responses is the 31st of July

    To participate in the survey please visit the following website:

    http://www.surveymonkey.com/s/QZJM8PP

     

    PCD Day 19th June 2010

    We had a fantastic day on 19th June 2010 with nearly 70 adults and 30 children attending.  For a full report on the day please click on PCD Day 2010

    Ciliopathic Alliance UK Launch Day

    We are holding a launch day for the Ciliopathic Alliance on 29th November 2010.  All health professionals with an interest in PCD are welcome to attend. More information to follow soon. contact us for more information