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A mother is urging other parents to learn from her
fit and active son's death from a genetic heart condition that it can be
triggered by active sports training.
Nobody knew Colin Blundel, 25, of Upton, had a
heart condition before he blacked out while climbing in Snowdonia last
November, falling 100ft and later dying of head injuries.
A post mortem examination revealed he had
Hypertgrophic Cardiomyopathy (HCM), the most common cause of sudden cardiac
arrests in under-35's that can be caused by intensive training.
One in 500 people carry the gene - a similar
number to the Cystic Fibrosis gene - although only 1-2% of them will die
from it. The condition is incurable but can be detected with an EGG
scan.
Colin's mother Angela Blundell said: "Colin loved
climbing, he thought nothing of biking 20 miles a day and spent his evenings
on his rowing machine trying to get to the top of an internet time chart.
"If we'd known then what we know now, I would have
got Colin tested for this.
"I know that no young man will ever think he might
have a heart problem and die, but I want to say to any mother who sees her
son doing a lot of sport, please get him checked out."
Consultant cardiologist at the Countess of Chester
Hospital, Dr John Somauroo, specialises in sports medicine.
He said: "HCM causes the heart muscles to grow
much larger than normal and interrupts the electrical wiring of the heart,
causing spontaneous cardiac arrests.
"If you have two people with HCM, one of them a
couch potato and the other a super-fit athlete, the couch potato will be at
a much lower risk of dying from HCM than the other super-fit athlete.
"This is because when HCM gene carriers train hard
their heart muscle grows very thick and puts them at risk of spontaneous
cardiac arrest.
"It shouldn't stop them being fit, it is just that
the unfortunate group of people who are HCM gene carriers and also keen
athletes will be told they can't indulge in high intensity or combat
sports."
When Colin died his heart was twice the normal
weight of a man of his build, with one side of the organ vastly oversized.
Angela and her husband Brian hoped to use money
donated in Colin's memory to establish a screening programme for heart
conditions in Chester schoolchildren, but found too many obstacles in their
way.
Brian explained: "We wanted to start by getting
every Year 11 pupil at Colin's old school Upton High screened.
"The screening involves an ECG and an assessment,
and mass screening only costs about £20 per person so we thought we could
pay for it to be done.
"But we found there are not enough resources in
this country to do it. Nurses and GPs don't have enough training and
experience of reading ECGs to recognise the condition.
by comparison, in Italy they made it mandatory by
law to test everyone from the age of 12 competing in a sport, and they saw
fatalities from it drop by up to 70%.
Dr Somauroo added: "In the UK we don't screen
athletes routinely, we have to wait until somebody has had warning signs and
then screen them and their family. However, the first signs may be
cardiac arrest and sudden death.
"I would much rather diagnose through screening
than wait until someone has died, but who is going to pick up the bill?
for me, the cost is worth every penny if it saves a child's life, but with
the current NHS system it would be impossible to fund.
"What we need is for GPs to be made aware of the
warning signs so they can refer people as soon as possible. A young
person should not be having dizziness or chest pains with exercise and
anyone who does experience this should see a doctor. 80% of people
with HOCM have some sort of warning before an arrest happens.
"I would like to see more defibrillators around
the community and more people trained to use them, so that if someone does
have a cardiac arrest in the street there is more chance their heart will be
started again in time."
Angela and Brian were still reeling from Colin's
death when they were told their whole family needed to be tested for the
condition, which has a one in two chance of being passed from generation to
generation.
A scan revealed Brian also had HCM and he had to
undergo scans and fitness tests as specialists assessed his own risk of
cardiac arrest.
Angela and their eldest son Robert were given the
all-clear but their grandchild Ben will have to be tested every two years
when he reaches puberty.
Brian also had to contact his three siblings to
tell them to get their families tested.
He said: "We have read of people who have lost
several members of their families before realising that the gene is there.
"The important thing now is for us to ensure
everyone in the family remembers to get each generation tested to stop it
happening again."
FACT FILE - SUDDEN CARDIAC DEATH
The charity Cardiac Risk in the Young (CRY)
estimates that eight young people die suddenly every week in the UK of
cardiac abnormalities - sudden death syndrome or sudden cardiac death.
Hypertrophic Cardiomyopathy is know as HCM, pronounced 'hocum.'
Cameroon footballer Marc Vivien-Foe suffered sudden cardiac arrest due to
HCM and died on the pitch in 2003. Daniel Yorath, the 15-year-old
brother of TV presenter Gabby Logan, died while playing football with his
father, former Wales manager Terry Yorath.
Countess of Chester Hospital nurse Lisa Browne died aged 27 of sudden
cardiac death when an alarm clock triggered Long QT Syndrome, an
hereditary electrical abnormality of the heart.
The average age of death from HCM is 17.
HCM causes thickness of heart muscles and interrupts the electrical wiring
of the heart, which can cause cardiac arrest.
If
a person is found to have HCM they undergo a series of tests to assess their
risk of having a cardiac arrest.
They may then be given medication or often a type of pacemaker called an
internal cardioverter defibrillator (ICD)) is surgically implanted to shock
the heart back to a normal rhythm if they have a cardiac arrest, and this
stops them dying.
There is a 50-50 chance of the HCM gene being passed from generation to
generati8on.
Anyone who experiences dizziness or chest pains during exercise should see
their GP.
Pilgrimage
gives chance to thank rescuers
In
May, 30 of Colin Blundell's family and friends took a pilgrimage to the spot
on Glyder Fach where the keen climber blacked out and sustained fatal head
injuries.
By
chance, as the group descended to visit the Ogwen Valley Mountain Rescue
headquarters, the RAF rescue helicopter landed nearby, allowing them to meet
the full team who helped Colin, 25, off the mountain last November.
Colin's mother Angela, of Upton, said: "A lot of these people had never been
on a mountain in their lives, so what they got out of it was knowing what
Colin was so passionate about."
The
Ogwen Valley rescue team was one of three charities chosen by the Blundell
family to share £1,500 donated in Colin's memory, along with Merseyside
Christian Youth Camp, which he attended for many years, and Braemar Mountain
Rescue Team in Scotland, who saved his life in a previous climbing fall.
They
have also dedicated a bench to Colin at a family holiday spot in Cornwall
and are setting up a physics prize at Upton High School.
Colin's father Brian said the prize will be awarded to the school's best
physician who is also an all-round achiever; to honour chartered accountant
Colin's strong belief that not all physics students are 'geeky'.
Angela says her work at Upton URC Pre-School kept her going through the
tough times in the last year, but she is dreading the anniversary of Colin's
death on Monday.
She
added: "We miss him so much, he was so much part of our lives."
Brian
added: "I saw a news report about a woman in Pakistan who was grieving at
the graveside of her son who died 18 years ago.
"Before this happened to us I think I would have said it was a nice thing to
do, but from an English point of view I wouldn't have understood it.
"We
know now that the grief just doesn't get better - you just busy your days
but it doesn't get easier."
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