Health fear for tragic dad's boys

Mum wants tests for fatal condition

Worried mum Donna Pyle is desperate to find out if her two young sons are at risk fro a heart condition when may have killed her husband.

The Exeter family were left devastated when Mr Pyle collapsed and died aged 32 after his heart stopped without warning – known as Sudden Adult Death Syndrome.

Mrs Pyle, of Shakespeare Road, Wonford, has been trying to get genetic tests carried out on her sons, Jake, nine, and Jamie, four, to see if they have inherited a genetic condition which may have been the cause.

Specialists at the Royal Devon & Exeter Hospital who are monitoring the boys’ health have refused to carry out the tests at the moment.  They say there is not enough evidence of a family heart condition.

Now, a charity has stepped in to recommend a specialist who may be able to help.

Mrs Pyle said: “It’s like living with a time bomb.  I need to know for sure whether my boys have this condition.  It’s their lives at stake.”

Grim wait for news of ‘killer’

An Exeter mother faces an anxious wait to find out if her two young sons have inherited the heart condition which may have killed her husband.

Donna Pyle’s husband, Andy, died of Sudden Adult Death Syndrome on March 17, 2000, aged just 32.

Since then Mrs Pyle, 30, of Shakespeare Road, Wonford, has been trying to get her husband’s heart tissue tested to establish whether he had a hereditary strain of the heart condition called long QT syndrome, which can cause the heart to stop suddenly.  And she wants her sons Jake, nine, and Jamie, four, to undergo genetic tests to see if they have the condition.

Long QT syndrome causes the electrical disturbance in heart cells, disrupting the normal rhythm.

The symptoms include blackouts and palpitations, but the severity can vary greatly.

Treatments to control the condition include fitting a pacemaker or using drugs to regulate the heart rate. 

Mrs Pyle has been trying to get genetic tests carried out through the Royal Devon & Exeter hospital.  But specialists there say there is no reason at the moment for the tests to be done.  Now the national charity CRY - Cardiac Risk in the Young – has now stepped in to help her.

The charity has recommended a heart specialist in London and Donna is now waiting to find out if her GP will refer her case to him.

The specialist would be able to carry out checks on Jake and Jamie and decide whether it was worthwhile for genetic tests to be carried out on them and their father’s heart.  Analysis of genes that can cause sudden adult death is currently carried out at a laboratory in Amsterdam, although it will soon be offered at a new Government funded unit in Oxford.

Mrs Pyle said she was desperate to find out whether her sons were living with a potentially fatal condition.

She said: It’s like living with a time bomb.  I go to bed at night and wonder whether I will wake up and find they are still alive, or if I am going to get a call from their school to saw one of them has suddenly died.  It’s heartbreaking.”

The couple had been married for nearly five years when Mrs Pyle found her husband collapsed in their bathroom.  He died at the RD&E of Sudden Adult Death Syndrome, a term used for the many causes of sudden unexplained cardiac arrest.

Only the night before his death the family had been joking and playing together.

Mrs Pyle, who also has a daughter Gemma, 13, added: “This time of year is particularly hard because the Thursday before Christmas would have been my husband’s birthday.

“I still wear my wedding ring.  Jamie will often say: “Where’s my daddy?” and I tell him that his daddy is with the angels, Jake asks questions when he hears the word ‘dad’.

“I need to know for sure whether my boys have this condition. It’s their lives at stake.”

Specialists at the Royal Devon & Exeter Hospital have ruled out genetic testing at the moment because they say there is no firm evidence that Mr Pyle had the type of heart condition which can be passed through families.  But they have offered to carry out yearly checks on the boys’ hearts and keep the genetic testing option under review.

One specialist told Mrs Pyle that Jake and Jamie had a slightly increased risk of sudden death.  But the outlook for patients with long QT syndrome were good.  And test on Jake showed it was unlikely but not impossible he had inherited such a condition.

CRY chief executive Alison Cox said: “Donna has not only suffered a tragedy, but now she faces the implications of they tragedy.  These are enormous stresses for a family who are grieving.”

RD&E spokesman Nick Fairclough said: “Mrs Pyle is anxious about the welfare of her children, as any mother would be in her situation.  We fully understand her fears, have offered to meet with her to discuss these in more detail and will contact her again repeat this suggestion.

“There can be difficulties in investigation and interpretation in cases such as this but we have carefully reviewed the clinical evidence and have carried out a number of tests on Mrs Pyle’s children.

“This has led us to recommend regular cardiological surveillance for her children and for us to keep the question of genetic testing under review.”

Mrs Pyle has won support in her bid for the tests to be carried out from a Devon grandmother who is trying to solve the mystery of whether long QT syndrome killed three members of her family.

Kathy Moyle, 59, who lives with husband Gerald, in East Budleigh, is hoping to meet Mrs Pyle to offer her support.

Two of Mrs Moyle’s daughters and her 17-year-old grandson have all died suddenly despite having suffered no apparent illness.

All the Moyles’ surviving relatives have been tested for long QT syndrome and are awaiting the results which could help save their lives.  The family have been screened and have had heart tests carried out.

The charity CRY can be reached by telephone on 01737 363222 or by visiting its website at www.c-r-y.org.uk