Kylie's Story: Primary Ciliary Dyskinesia (PCD) | Action Medical Research

Kylie’s story: it’s not been an easy ride - primary ciliary dyskinesia (PCD)

Primary ciliary dyskinesia (PCD) is a debilitating, lifelong, inherited illness. Usually thought of as rare, affecting around one in every 15,000 babies, it causes recurrent ear and chest infections, often leading to permanent lung damage. 

Symptoms often begin soon after birth, with babies needing oxygen because of difficulties breathing. Children with the illness often need surgery to insert grommets and hearing aids.

Once their illness is correctly diagnosed, children are offered regular, twice-daily physiotherapy, which helps clear their lungs. Many also take antibiotics on a regular basis to tackle infections. The right treatment can relieve children’s suffering, help stop their illness from getting worse and protect their lungs from permanent damage.

However, PCD sometimes goes undiagnosed, or is mistaken for other illnesses, like cystic fibrosis or asthma, which cause similar symptoms. Even if PCD is suspected, diagnosis is complicated and unpleasant, with children having to undergo several tests at specialist centres, including biopsies of the lining of their nose.

Difficulties and delays with diagnosis are causing unnecessary suffering. Improvements are needed urgently.

New research: hunting for genes in community at high-risk

Children in some communities are at unusually high risk of developing PCD. With funding from Action Medical Research Dr Hannah Mitchison, of University College London Institute of Child Health, is hunting for genetic changes that cause the illness in a particular community at risk.

“We aim to find out why people from the British Asian community, for example those living around Bradford and Leeds, are at increased risk of developing PCD, by looking for the genes that cause their illness,” explains Dr Mitchison. “This would enable us to develop new genetic tests for PCD. Benefits would include quicker, simpler and cheaper diagnosis within this community.”

“We anticipate that our work will eventually help all families with PCD,” says Dr Mitchison. “Improving understanding of what causes the illness will enable us to work towards better treatments.”

Kylie’s story

Kylie was born one month early, thankfully needing no neonatal care. But not long after her birth, her parents noticed that she produced a lot of phlegm and often had trouble breathing.

When Kylie was just eight weeks’ old, her breathing became very laboured and she had a high temperature. Her symptoms worsened and she was rushed to A&E. An X-ray revealed she had pneumonia and she spent a week in hospital in isolation.

In fact, for the first 18 months of her life, Kylie was in and out of A&E with high temperatures and breathing problems. She also had problems with her hearing and pain due to an infection of the middle ear.

In January 2012, a scan revealed that Kylie had inflamed airways and lungs. She was also diagnosed with bronchiectasis in her lower left lung (a long-term condition where the airways become abnormally widened, leading to a build-up of excess mucus which in turn makes them more vulnerable to infection). The scan also showed Kylie, who was only two years old, had a collapsed middle, right lung. Two days of tests followed, including one for cystic fibrosis.

“It was all so very, very worrying.  I didn’t know why this was happening to our daughter. It was such a stressful time,” says her mum Nhu.

At long last over two years after her birth, in October 2012, her parents Nhu and Kevin were finally given a diagnosis. Kylie has primary ciliary dyskinesia (PCD).

“It’s not been an easy ride but it’s a relief now that we know what Kylie has and she is being treated appropriately. It’s great to see such an improvement in our daughter” says Nhu “Her ear infection has now improved and she has normal hearing. She is learning and speaking well and enjoying life.”

Read more about the research here. And watch a video of Kylie singing our fundraising mascot Paddington Bear a happy birthday, and a video of her parents talking about their daughter's health and hopes for the research.

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