YOUR LIFESTYLE:Neonatal screening for cystic fibrosis will give patients a better and longer life, writes BARRY ROCHE, Southern Correspondent
THE INTRODUCTION of neonatal screening for cystic fibrosis here in Ireland will mean that parents will learn within a month of their child’s birth whether they have CF which will allow medical experts provide early treatments that will lead to a better and longer life for the patient.
American expert Prof Philip Farrell, who pioneered neonatal screening in the US, says he is confident the new HSE programme will be introduced in the Republic later this year and will lead to major improvements for those suffering from CF.
Based at the School of Medicine and Public Health at the University of Wisconsin, Farrell says the introduction of neonatal screening for CF there in 1985 resulted in dramatic improvements including longer life expectancy for those being diagnosed with the disease.
“We can project that the median longevity of those who have been newly screened at birth will be 50 or 60 years and that compares very well with the longevity of those who haven’t been screened at birth which is about 35 years,” he says.
Farrell says the ability to identify those with CF when they are newly born and their lungs are still healthy means they can benefit from early nutritional and respiratory therapies which will help them grow stronger and faster so they are better equipped to deal with the disease.
“The difference for the adult patient is that the patient enters adulthood already healthy and the chest physicians [who] treat these adults tell us that it’s an absolutely striking difference – they have a patient coming to them in transition with normal lung function and fully grown.”
Farrell, who already had a meeting with the HSE director of newborn screening in Ireland, Dr Philip Mayne, and has been in contact with Dr Jerry Canny of Our Lady’s Hospital for Sick Children in Crumlin, explains how the neonatal screening will take place in Ireland.
“Diagnosis takes place when the baby is days old – the heel prick is done like with every newborn baby and the blood is put on a Guthrie card and it goes to the newborn screening laboratory at the Children’s Hospital in Temple Street in Dublin,” he says. “The first measure that’s made is called the IRT – Immunal Reactive Trypsinogen – and that level is high in babies with CF because of the blockage of the pancreatic ductal system – IRT comes from the pancreas,” he says.
“If the IRT level is high, the blood will be sent to Crumlin National Genetic Centre to be analysed for DNA to identify CF mutations so when you have a combination of high IRT and a second tier test revealing CF mutations, that indicates a baby may have CF so you then do a sweat test.
“In this country, the newborn screening sample will arrive at Temple Street within three to five days, the IRT tests can be done the same day and if it’s high, the blood specimens will go over to Crumlin and the genetic tests will be done within a week. So within two weeks of age, the newborn screening result is known and the parents can be contacted and a sweat test performed to confirm diagnosis so parents should know within three weeks, sometimes maybe four weeks.
“The first thing we do then is provide genetic counselling for the parents, inform them of the existence of this gene and we explain about the pancreas and the lungs and we intervene first with a pancreatic enzyme, supplements and good nutritional therapy.
“It will seem like a different disease with newborn screening – the CF centres in the US can’t imagine what they are seeing, healthy children, growing normally who don’t have to be admitted for IV antibiotic therapy – it’s like a different disease just because of early diagnosis.”
- Prof Farrell will give a lecture on neonatal screening for CF at Our Lady's Hospital for Sick Children in Crumlin on June 19th