Screening test identifies early signs of cystic fibrosis

[Guest guest]

The Herald (Glasgow)

February 18, 2003

HEADLINE: Screening test identifies early signs of cystic fibrosis

BYLINE: Alan Macdermid Medical Correspondent

AN ALERT midwife saved Nicola ston's parents months of anguish by

spotting the early signs of the illness she had inherited - but not all

families

with cystic fibrosis are so lucky, it may take a year of anxiety before

they

discover why their new baby is failing to thrive.

Now that is to change thanks to a new screening programme launched

yesterday, which will diagnose CF within days of birth and enable

treatment to

be started promptly. A pinprick blood test will be used to detect CF,

enabling

treatment to be started right away.

Nicola, 14, from Newport, Fife, is now one of a generation of CF

patients

who can look forward to a steadily-increasing life-span. About half of

patients

born recently can expect to survive to age 60 compared with only 19 three

decades ago.

and Jerry ston had no idea they were carriers of the CF

gene until

Nicola was born at full-term, but under-weight.

The midwife at Ninewells Hospital in Dundee saved the day. " The

midwife

picked up that something wasn't right and we were advised to go back at

six

weeks, " said Mrs ston.

It was obvious before then that Nicola was not thriving, but it was

six

weeks before a sweat test - the earliest one available at the time -

prov-ided

the diagnosis.

" As soon as that happened she started putting on weight and reached

the

normal size. It was a devastating diagnosis, but the sooner you know the

better.

It also meant we didn't have the added worry of knowing something was

wrong and

not knowing what it was. "

As Nicola grew her parents had to start daily physiotherapy to keep

her

lungs clear and protect her from respiratory infection - and far from

being put

off by hospitals, she wants to be a doctor.

Mrs ston, 37, works for a charity, Action for Sick Children,

which

promotes screening and good practice in children's hospitals. She is also

running this year's Edinburgh marathon to raise money for CF care. The

couple

have a son, , 12, who has not inherited the disorder.

Between 20 and 30 children are born with the condition each year in

Scotland

and there are 389 children in Scotland being treated for it.

Rosie , of the National Cystic Fibrosis Trust said: " Screening

will

spare a great deal of misery and will enable babies with CF to lead

healthier

lives for longer. "

However Dr Anil Mehta, of Ninewells Hospital, who has campaigned for

the

introduction of screening, warned it would be futile if the ish

Executive

did not provide the resources to treat the babies who are diagnosed

early.

" It takes 12 consultations in the first year, and parents are paying

for

specialist nurses and dietitians through charity, " he said. " It is going

to put

pressure on services which in some cases are already badly stretched. "