Touching Lives - October 2011
Early diagnosis is key
While most mums worry about their child picking up bugs at nursery, for Debbie it is a very real fear. If two-year-old son Malachi gets a bug he can end up in hospital. Even when he is well he has a daily routine of medication and physiotherapy because he has a rare condition called primary ciliary dyskinesia (PCD).
Children with PCD have abnormal cilia – tiny hair-like projections which line the airways. Normal cilia help to keep germs away from the airways; but in children with PCD bacteria and mucus build up inviting infection and congestion. This can lead to lung damage causing serious complications and illness.
Debbie noticed something was wrong with Malachi when he was born and within two days he was put on oxygen in an incubator. Doctors suspected he had PCD and treatment began. He is now on a nebuliser three times a day, takes oral antibiotics as well as inhalers and has physiotherapy twice a day.
“Malachi is such a sociable little boy and loves people,” says Debbie, “but I’m reluctant to mix him in groups such as mum and tots, pre-school and all the normal places you want to include a two-year-old. A common bug can turn into a nasty chest infection and a hospital stay on antibiotics. I know that he is in the fortunate position of being diagnosed at such an early age, which has hopefully reduced the damage that could have happened to his lungs.”
PCD is an inherited illness. Around 40 per cent of children with the condition have one of nine known genetic mutations but the cause of the rest is unknown. So Action Medical Research is funding a project at University College London, supported by a generous grant from The Henry Smith Charity, to search for more genetic clues. This should help speed up diagnosis and intervention to ease suffering in babies and children.
Euan and Gregor’s story
Early diagnosis is key and someone who knows this firsthand is Fiona, Chair of the PCD Family Support Group and mother to two teenage sons with the condition. For Fiona and her husband, part of coming to terms with their boys’ condition was the guilt that PCD is genetic. “It was our fault they had the problem and if we had pushed for diagnosis earlier they would have had a better outcome.”
Their eldest son, Euan, wasn’t diagnosed until the age of six, by which time a third of his lung already had irreversible damage as a result of lots of untreated chest infections. His younger brother, Gregor, was diagnosed at the same time, aged four.
“I think the research that Action Medical Research is funding is a great opportunity. Any advance in diagnostic testing techniques has to be good for the patients. Before diagnosis, we were made to feel like pushy parents with nothing else to do but take our children to see the GP, but at diagnosis we were very scared as we were told Euan had chronic lung disease and, not knowing what this meant, we thought he was going to die.”
Euan, now 15, says: “PCD gets in the way of schoolwork a lot, especially when you are off school for weeks at a time. It also ruins plans for holidays.”
Gregor, now 13, adds: “I don’t like not being able to do things that my friends can do. It gets really boring going into hospital.” Thanks to a strong medical team and the skills Fiona has had to learn including delivering physio, Euan and Gregor are able to live increasingly normal lives.