Discovering genes to help children like Kylie | Action Medical Research

Touching Lives - April 2014

Discovering genes to help children like Kylie

Kylie who has been diagnosed with PCDFor the first 18 months of her life, Kylie suffered recurrent high temperatures, infections and breathing problems. At two years old she was finally diagnosed with primary ciliary dyskinesia (PCD), a debilitating inherited illness that particularly affects the airways.

In the early weeks of her life Kylie’s parents noticed she produced a lot of phlegm and was often wheezy. At eight weeks old she developed pneumonia and spent a week in hospital in isolation. Over the next two years the family endured frequent trips to the doctors or A&E. As well as breathing difficulties, she also had problems with her hearing and pain due to an infection of the middle ear.

After many tests the family were finally told that Kylie was suffering from PCD.

“It was all so very, very worrying,” says her mother Nhu. “I didn’t know why this was happening to our daughter. I had often asked myself, was I a good mother? What was I doing wrong, was there more I could do? Getting a diagnosis helped and gave us a sense of relief that at last we know what’s really wrong.”

Every year in the UK more than 100 children are diagnosed with PCD. It is a lifelong condition that causes recurrent chest and ear infections, often leading to permanent lung damage. Early diagnosis can relieve a child’s suffering by giving them quicker access to treatments that ease symptoms and slow the disease’s progression.

Action funding awarded in 2010, with support from The Henry Smith Charity, allowed a research team to hunt for genes that cause PCD. Led by Dr Hannah Mitchison at the Institute of Child Health, University College London, the research uncovered changes in four new genes. This has resulted in new improved testing techniques which will mean faster and more accurate diagnosis can be made and treatments started sooner.

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