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Tribute to young Newbury Park woman who died from rare genetic disorder

16:46 21 August 2014

Carly Torrington at V Festival in 2010

Carly Torrington at V Festival in 2010

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A young woman who was left paralysed and blind from an extremely rare genetic disorder has died after a rapid deterioration in her health.

Mitochondrial Disorder

Mitochondrial disease is a genetic disorder that is often inherited from the sufferer’s mother.

It affects about one in 5,000 people. However, Carly had the POLG1 mutation which only affects one in a million people.

Because it can affect people of any age and involve different organs, mitochondrial disease can be very difficult to diagnose.

Faulty mitochondria have been linked to a number of diseases including diabetes, Alzheimer’s and epilepsy.

There is no known cure but it can now be prevented.

Recent medical advances have developed a process called mitochondrial transfer in which someone with mitochondrial disease can have a baby without passing on the disorder.

Carly Torrington, 26, from Newbury Park, was diagnosed with mitochondrial disorder in 2011 after suffering a stroke.

Just weeks after leaving college, she was hospitalised and became reliant on nurses to feed and dress her.

It seemed like the former pupil of Seven Kings High School was making a recovery and she was able to walk short distances on her crutches, ride a tricycle and attend house parties.

But, after the death of her grandfather and an accident involving her boyfriend, Carly had a second stroke and encountered a series of medical complications which led to her death on July 30.

Her family and best friend have paid tribute to Carly, whose story was first reported in the Recorder three years ago.

Carly’s mum, Chris Roberts, 62, said: “She was so kind and caring and thoughtful and so very, very brave.

She had a wicked sense of humour that stayed with her right to the very end.”

Without the care and love of her boyfriend of eight years, Pete, it is likely that Carly would have had to spend her last days in a nursing home.

Chris said: “When the diagnosis was made and everyone fell apart he just soldiered on and looked after her really well.”

They met while she was working in Fuerteventura on her gap year and clicked straight away.

Pete said: “For someone who was timid and shy Carly had a strength behind her which was more than anyone could have imagined.

“She was always friendly and always happy.”

Her best friend, Michelle Catterick, said: “One of the hardest moments for me was when Carly lost the ability to even be able to tuck her hair behind her ears.

“Such a simple task for you or I, but near impossible for her.”

There is currently no cure for mitochondrial disorder although recent medical advances in the area have made it possible to stop babies being born with the genetic mutation that causes the condition.

Carly’s friends and family are raising money for mitochondrial research and have collected over £2,000 since she died on July 30.

The specific mutation that Carly had affects one in a million people each year and she compared it to winning the lottery.

Chris said: “Carly did say once that it was disappointing that she had to be the one in a million to get this disorder when she could have been the one in a million to win the lottery.

“My poor Carly didn’t win the lottery after all.

“But at least did have her for 26 years and she was remarkable.”

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