MUM Emma Anstee and her sons Arie and Louis look the picture of health.
But their lives could be cut short at any moment by something as innocuous as
the buzz of an alarm clock or the ring of the school bell.
Emma and her boys have been diagnosed with a rare, life-threatening heart
condition which means a sudden loud noise could cause their hearts to stop
beating.
Arie, 15, has been forced to stop playing football and can’t even watch a
match on the television for fear it may stop his heart.
The boys are on medication but they have to make sure they aren’t exposed to
any sudden noise or intense emotion such as fear.
They are warned at school when the bell will go off and they can’t watch scary
films or play video games. This is to prevent them getting stressed in case
it sparks an attack.
Emma, 34, a former nursery teacher, said: “It was such a shock when all three
of us were diagnosed like this. It has changed all our lives.
“None of us can do things that we always took for granted. We can’t do
fairground rides, swim or watch many TV programmes.
“We have had to take up fishing because it’s relaxing. We try to live as
normally as possible but it is difficult because lots of things are
life-threatening to us.”
Tomorrow is Jeans For Genes Day, where you can wear jeans to work or school if
you give a donation to the charity, which raises money for children with
genetic disorders.
The family had no idea about the condition until Arie was ten years old and he
collapsed playing football.
Emma, who lives with partner David Hunt, 34, an engineer, in Kent, said: “Arie
had fainted a few times before while playing football but we always put it
down to early morning starts and him not eating enough breakfast before a
match.
“But the last time it happened before his diagnosis we knew it was serious. He
collapsed on the floor after his heart stopped. Luckily the force of his
fall restarted his heart.”
Arie was immediately taken to hospital where doctors scanned his brain looking
for signs of epilepsy.
He was then taken to Evelina Children’s Hospital, west London, where tests
showed Arie had Long QT Syndrome.
It is a disorder of the heart’s electrical activity which when prompted by
exercise or stress can cause a very fast heart beat rhythm which results in
no blood being pumped round the body.
The brain quickly becomes deprived of oxygen, which can cause sudden death.
Emma added: “The consultant called us in and told us that Arie would never
play football again and that he was very lucky to be alive.
“It was such a shock for all of us to hear the devastating news.”
Other family members were also tested to see if they had the condition too. It
showed Emma and her younger son Louis, nine, also had the disorder, but
daughter Demi, 12, and son Ollie, four, are free from the condition.
Arie had a defibrillator fitted in 2009 after drugs he was prescribed failed
to keep the syndrome under control. Louis is on medication but Emma is not.
Emma said: “Arie was very frightened about it because he collapsed several
times whereas Louis and I have never fainted.
He still kept passing out while on medication so that’s why he had the
defibrillator fitted to restart his heart if it stops.
“Arie had ambitions to go to sports college but he can’t do that now.
“The family tries not to startle us and we have to be careful what TV shows we
watch so we don’t see anything that is going to give us a shock.
“I don’t worry I’ll leave my children without a mum — I’m too busy worrying
about them to think about myself.
“It does affect the other children, too, as we can’t take them to amusement
parks like we used to.
“But we try not to think about it all the time and live as normal a life as
possible.”
Common genetic disorders in the UK
THERE are more than 4,500 recognised genetic conditions in Britain. Here
are some you may have heard of…
Cockayne Syndrome: A premature ageing disorder which leads to a
shortened life expectancy. Children with CS experience feeding problems and
chronic vomiting.
Brittle Bone Disease: A rare disorder that causes bones to fracture
easily due to the low production of collagen. Sufferers may be subject to
early loss of hearing and discoloration in the whites of their eyes.
Sickle Cell Anaemia: A condition in which there is an abnormality in
haemoglobin, the oxygen-carrying protein in red blood cells. Normal red
blood cells flex and travel around blood vessels easily. But sickle
haemoglobin stick together to form rods inside the blood cells making them
rigid. Blood vessels become blocked, preventing oxygen getting through and
causing pain and damage to organs.
Spinal Muscular Atrophy: Affects nerve cells so muscles cannot be used.
The disease affects nerves in the spinal cord and cells become damaged,
breaking the brain/muscle link. Can lead to problems with crawling, walking
and head control.
Huntington’s Disease: A disorder of the central nervous system
that can impair the ability to walk, think, talk and reason. Symptoms most
often appear in those aged from 30-50.
For more information about Jeans For Genes fundraising visit .
To make a donation, text JFGD11 and the donation amount to 70070. All text
messages are free on all networks. The donation amount will be charged to
your phone bill. The minimum amount per donation is £1, the maximum is £10.