The PCD Family Support Group held their first ever Family Day in Scotland on Saturday, 13th May 2017. Twenty-one families and a number of medical professionals and scientists joined us at the Studio Venues in Glasgow for a fantastic day. Whilst the children were entertained by Tickles the Clown the rest of us learnt more about the PCD Family Support Group from Chairman Fiona Copeland and had a really interesting presentation from Dr. Anne Devenney from Glasgow Children’s Hospital explaining all about PCD.
After a fantastic lunch and opportunities to meet other families, we learnt how PCD is diagnosed by Dr. Amelia Shoemark, who provided us with an in-depth explanation of the different cilial maladaptations that patients with PCD present and the importance of future research to investigate this further, as well as the complexities and difficulties in diagnosing PCD.
This was followed by a fascinating talk about how Fruit Fly Research has helped identify PCD Genes from Professor Andrew Jarman. A seemingly accidental discovery led him to compare the cilia on fruit flies (which allow them to hear through vibration) to those in human DNA, uncovering remarkable similarities. Similar to human DNA, if fruit flies had a certain mutation in their DNA, their cilia behaved in similar ways to that of humans with the same mutation, a discovery which will no doubt aid the advancement of research into the DNA strands which are responsible for all of the tools and functions of the cilia cells.
We finished the day off with an informal question and answer session, where points were raised about the benefits of Active Cycle Breathing Therapy (ACBT) as a form of physiotherapy, and discussion about how to ensure patients receive a coordinated service. Patients and families were able to exchange information about local services available and discuss various issues with different treatments, such as the benefits and disadvantages of gromits, T-tubes and hearing aids, sinus surgery, how and when to use antibiotics and common side effects and why medical advice has evolved PCD is understood more.
We hope that this was the first of many events held in Scotland.
By Alice Redfern