At the age of 19, Laura Jakubowski learned she was suffering from mitochondrial disease – a rare cell disorder – for which there is no cure. Now 26, the illness has robbed her of her hearing and even left her on the brink of death. ANNE-MARIE SENIOR finds out how this cruel condition is taking over her life.
SHE WAS like any other sprightly eight-year-old until the day her life changed forever.
Laura Jakubowski woke up to a silent world and was later told by doctors her hearing had gone for good.
“Nobody could explain it”, said mum, Angela. “She had been wearing hearing aids throughout infant school because she had suffered some hearing loss but overnight she became profoundly deaf. They just couldn’t tell us why.”
After fighting health bosses for funding, Laura eventually received a cochlear implant.
The operation at Bradford Royal Infirmary helped restore her hearing and transformed the Lockwood youngster’s life, allowing her to enjoy her teenage years with her schoolfriends at Newsome High School.
But by the age of 15, signs began to show all was not well.
Angela said: “When she was 15 she got an ear infection and she just couldn’t fight it off.
“Between the ages of 15 and 18 she kept getting ear infections. It was discharging all the time and they kept putting grommets and packs in.
“We thought ‘What’s wrong with her?’’’
Laura underwent a number of ear procedures – which left her so fatigued she was unable to sleep, walk or eat.
At the age of 18, she ended up being rushed back to BRI by ambulance and placed under the care of neurologist Mr Busby.
“She was in intensive care for three days while they did lots of tests,” recalled Angela.
“She was given a blood transfusion and a plasma exchange to clean her blood.
“It was awful. We just sat there and cried.”
Laura, who lives with her parents and brother on Meltham Road, Lockwood, spent three weeks in hospital while medics struggled to find out what was wrong with her.
Eventually a muscle biopsy taken from her leg was sent to top specialist Dr Doug Turnbull at Newcastle’s Royal Victoria Hospital.
In April 2004 – when she was just 19 – she was diagnosed with mitochondrial disease.
“We’d never heard of it,” said Angela. “The doctor said it was so rare that mitochondrial conditions had only just come to light. Nobody would have known that’s what she was suffering from.
“He said that’s why she went profoundly deaf. It was so nice for someone at last to be able to tell us why she went deaf.”
“But there was no cure.”
Mitochondrial disease is caused by damage to the mitochondria in cells – the energy-producing structures that serve as power plant in the cells.
If cells do not have enough energy, then the tissues or body organs that they serve cannot function properly.
The symptoms and severity of the disease can vary greatly, depending on how many cells are affected and where they are in the body.