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A
fresh call has gone out to screen young people for hidden heart defects after
a Swansea Valley mum who lost her son to a rare heart disease discovered her
daughter has the life-threatening condition.
Three years ago Rita Buchan lost her 29-year-old son Jamie to cardiomyopathy.
Now, after tests, her 30-year-old daughter Nadia has also been diagnosed with
the condition.
“We only found out last Wednesday that Nadia has it,” said the 53-year-old
divorced mum for Cwmllynfell.
“We have been to London five times in the past year for various tests to be
done.
“Now it has been confirmed that she has it, though we still don’t know which
form of cardiomyopathy she has.
“She will now have to undergo genetic testing to find out.”
Jamie’s death was not the first tragedy to hit the family. Two years before,
his brother Martin, aged 21, was killed in a car crash.
“We know Jamie had it but we will never know if Martin did. I do recall
though that he used to complain of chest pains at times,” said Mrs Buchan.
Nadia, a staff nurse, has been told she has arrhythmogenic right ventricular
cardiomyopathy. It is the same form of the disease as that which is believed
to have caused Jamie’s death.
Rita said: “Jamie was super-fit. He was a very energetic man and was always
pushing himself.
“He was cycling one day, coming up a steep hill. We don’t know if he felt
unwell but he put the bike down and the next thing he collapsed by the side of
the road and died.
“I
couldn’t believe it. I lost one son five years before in a car accident.
Jamie’s death was completely out of the blue.
“It was horrific. He was dead but there were no answers as to why he died so
suddenly.”
She and her daughter underwent screening which eventually showed that Nadia
has the disease.
“It’s so worrying but at least now we know,” she said.
Nadia will now have regular check-ups to monitor condition and she has been
prescribed drugs to help.
Paulette Smith, South Wales representative for Cardiac Risk in the Young, lost
her own son, Christian, to a hidden heart defect when he was just 24.
Mrs Smith, of Heol-y-Fin in Clydach, is a strong campaigner for more
screening.
“The Buchan family shows how important screening is,” she said.
“At least the sister will now have the chance her brother didn’t.
“She will either have medication or maybe have a device implanted which will
kick-start her heart if it stops.
“It is vital that more young people are screened so we can stop these
tragedies.”
Paulette’s organisation has been chosen by Swansea’s new Lord Mayor, Mair
Gibbs, as her charity during her year in office.
“I
think it’s wonderful. It will help to raise the profile of this cruel
condition,” said Mrs Smith.
Find out more about Arrhythmogenic Right Ventricular
Cardiomyopathy
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