Tuesday 25 September 2018

Early diagnosis enables the child to start their treatment much earlier


Geraldine Leen
Geraldine Leen

Babies in Ireland are now being diagnosed with cystic fibrosis (CF) at just three weeks old.

It's a diagnosis that can be "overwhelming" for new parents, said Gerardine Leen, a clinical nurse specialist in cystic fibrosis in the National Children's Hospital in Tallaght.

However, experts like Gerardine are on hand to help and guide parents as they begin to come to terms with their child having a chronic lifelong disease.


"I think there's a lot of exciting developments that are going to make a huge difference to patients lives in the next few decades," she said.

Ms Leen said that Ireland introduced newborn screening four years ago for cystic fibrosis as part of the heelprick test - this is where blood is taken from the baby's heel and tested for a number of conditions, including (CF).

Prior to that, the average age of diagnosis was two years of age.

"You are diagnosing them earlier, but does it really make a difference to their long-term prognosis? I think it does," Ms Leen said.

"Certainly it enables families to accept the diagnosis and it enables the child to start treatment much earlier. So it has to improve their survival and improve their prognosis.

"For the most part, I would have to say I have never met one family since July 2011 who said I would prefer if my child hadn't been picked up.

"They are very grateful it is available now because you can start treatment early.

"You don't have the reverse malnutrition problem that occurred years ago when they were two and three and four years of age before they were diagnosed.

"Essentially you are hoping that because the lungs are completely normal at birth, they starting treatment early and therefore you are limiting the amount of damage that can be done to those lungs," Ms Leen said.

Under current procedures, if the heelprick test has been abnormal, the clinical nurse specialist in CF will make a call to the family and advise them that one of the tests has been abnormal.

"That's an extremely hard call to make and an extremely hard call to receive," she said.

A test, known as a "sweat test" is organised for the baby - babies with CF have a large amount of salt in their sweat.

Where the diagnosis is confirmed, parents are supported in learning about the condition and treatments for it.

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