Scottish PCD Day 2019

Kids at the Teddy Bear Hospital

Scottish PCD Day October 2019

On 5th October 2019, the PCD Family Support Group Scotland were delighted to hold their third Family PCD Day. We chose the month of October to coincide with Global PCD Awareness month.  This year’s venue was the Queen Elizabeth University Hospital Campus where we were warmly hosted by Liz Dougan, Project Manager of the Office for Rare Conditions. We had 59 attendees including PCD patients, their families and friends, clinicians, researchers, physiotherapists, psychologists, and members of the PCD Family Support Group UK. The day was a great success with updates on the latest clinical and scientific research and various aspects of the management of PCD We also ran facilitated sessions with separate kids and teen groups on what it’s like to live with PCD and the challenges they face.  The kids were entertained all day long with science fun from the Mill Lab (see more details below), a poster competition, games and the local Glasgow Teddy Bear hospital. The hospital is run by medical, dental and nursing students from the University of Glasgow targeted at 3-7 year old children to relieve any fears and anxieties about health care professionals.

The day kicked off with an update on the committee’s activities in the last 12 months. One highlight was being invited to speak at the Rare Diseases Reception at the Scottish Parliament in March this year, a great opportunity to raise awareness of PCD in Scotland. Another highlight was connecting with the Mill Lab at the MRC Human Genetics Unit at Edinburgh University run by Dr Pleasantine Mill and her team. The lab is a leading hub of ground-breaking cilia research and we were delighted when they hosted a PCD awareness day last October.  Since then “Team Mill” have become key advocates and supporters of our group. We were delighted to have Pleasantine attend as one of our speakers while her colleagues Dr Peter Tennant and Fraser McPhie entertained  the kids throughout the day  with fun (sometimes messy) science activities including extracting DNA from strawberries, Colour-My-Lung aprons and a Giant Cell Activity Tent.

Fun with Peter Tennant and Fraser McPhie from The Mill Lab

The first of the clinical presentations was delivered by Dr James Chalmers (Professor and Consultant Respiratory Physician at School of Medicine and Ninewells Hospital Dundee). James shared the latest research into Bronchiectasis including progress in developing personalised medicine and antibiotic treatments, reducing lung inflammation and how best to mitigate lung damage caused by bronchiectasis.

Dr Tash Kunanandam (Consultant Paediatric ENT Surgeon, Royal Hospital for Children, Glasgow) presented on the common ENT problems for PCD patients and their treatment. She spoke about how otolaryngologists are often the first people to see patients with hidden genetic disorders and are therefore critical to their early diagnosis.

Pleasantine Mill (MRC Human Genetics Unit, Institute for Genetics and Molecular Medicine at the University of Edinburgh) spoke about the challenges of developing bespoke therapeutics for PCD and the importance of genetic diagnosis for not only clinical management, but also for access to genome therapies/genome editing. It was fascinating to hear about her lab’s research into genome editing technologies which gives hope in the future for patients with rare genetic diseases like PCD.

 

Our Speakers

One of the objectives of the UK and Scotland support groups is to promote research to aid diagnosis and treatment of patients with PCD including helping to find patients for research when asked. We were therefore excited to welcome Dr Anu Sironen (Institute of Child Health, University College London) and Dr Corine Driessens (Research Fellow, PCD Research Group, University of Southampton) who are both seeking volunteers to take part in their current research projects. Anu shared her study into the links between PCD and male infertility and invited anyone willing to take part, to contact her at a.sironen@ucl.ac.uk .  Corine talked about her project analysing the link between PCD and wellbeing/mental health. She recognises that not much is known about the psychological health of individuals living with PCD and is inviting any patients age 11 and older to take part in the online survey that she is conducting www.isurvey.soton.ac.uk/32877

We had an energetic session with Dr Kath Sharp (Paediatric Respiratory Therapist, Greater Glasgow & Clyde) who had us all on our feet doing practical physio activities.  Kath shared her passion for the importance of daily physio, and got us thinking more about how our lungs work and clear themselves and how physio is critical to the management of PCD.

Angela MacRitchie (Natural, Holistic and Complimentary Therapist from “Essence of The Soul”) delivered a very interesting talk in which she shared her natural therapy recommendations for PCD covering nutrition through food, supplements and herbs. She focussed on how to support the immune system through the gut and how probiotics can help counteract the effects of antibiotics.

An exciting milestone for the Scottish PCD community has been the submission of a “National Bid for PCD Diagnostic services in Scotland”, covering all ages, based in Glasgow and including genetics and advanced cilia imaging.   Dr Anne Devenny (Consultant Paediatric Respiratory Medicine RHSC Glasgow) updated us on the bid which began in summer 2018, was revised and resubmitted to the Chief Executive of the NHS National Services Division in summer 2019 who she is now waiting to hear back from. Watch this space!

Q & A session with Panel of Experts

The meeting closed with the opportunity for a Q&A with a panel made up of all our speakers. People took the opportunity to ask many questions including the need for a Specialist PCD Management Clinic in Scotland and how research and care for PCD might be affected by Brexit. We also heard back from the facilitators of the teenage patient session about how much they enjoyed the chance to connect with each other and share their stories and would love to see more dedicated support and resources for this age group.

We missed Fiona Copeland, Chair of the UK Family Support Group, who was unable to join us this year. However, she joined us virtually by video and shared that this will be her last year in “The Chair” after 16 years tirelessly working to raise awareness of and improve PCD services. We are immensely grateful for all that she has done, especially her achievement in  recently securing funding for Adult Services in England at 4 centres, which are due to be announced shortly. Fiona has been an inspirational mentor to all of us in the Scottish PCD Committee and we hope that we can build on all her work to further develop our impact as a group in Scotland

Overall feedback for the day was extremely positive and a huge thanks goes to our committee members and all the speakers who worked hard to make the day such a success!!