Scientists unlock secret behind rare disease where flu can cause paralysis
It is hoped that the finding could potentially one day lead to a treatment for the illness.
When Timothy Bingham was two, he had a mild flu-like illness which left him unable to walk.
Three years later following another infection, he was paralysed and has been in a wheelchair ever since.
Kate Bingham, mother of Timothy, who is now 28, said: 'About 25 years ago Tim got a flu like infection and a temperature.
'What seemed like a minor illness had devastating consequences.
'The attack, and subsequent attacks – did terrible damage. First to his legs, then his arms, his face and his chest.
'And now he needs 24-hour care. His diaphragm barely works at all so he can't cough.
'It's hard for him to chew and he can't drink unassisted. He can't move in bed so needs turning throughout the night. The things we all take for granted he can't do.'
The rare condition was spotted again in 2011 when an unnamed eight-month-old girl was left unable to breathe on her own without the support of a ventilator after a mild chest infection.
Scientists suspected that there could be a genetic reason behind the condition after the girl's two brothers had experienced similar severe problems following mild infections.
Now scientists at the University of Manchester have found a genetic mechanism behind the severe reactions to mild infections seen among these children – a change to a gene called RCC1.
Researchers found that 24 children from 12 families from the UK, Turkey, the Czech Republic, Germany, Iran, India, Saudi Arabia, Cyprus, and Slovakia have been found to have changes in the same gene.
Writing in the journal Lancet Neurology, the research team describe how the condition 'mimics' Guillain-Barre syndrome – a rare condition in which a person's immune system attacks the nerves – and 'overlaps mechanistically' with motor neurone disease.
The research team, led by Professor Bill Newman from the University of Manchester, said that their study reveals that 'variants in RCC1 as a novel cause of neurological disease.'
'Until this study, little was known about why some people experience severe nerve damage after they have had a mild infection like flu or a stomach upset,' Professor Newman said.
'This work provides families with an explanation and is the first step in us developing an effective treatment. As children are well before they develop nerve damage following an infection, this gives us an opportunity to treat at risk children before problems occur.
'The similarity with Guillain-Barre syndrome and with conditions like motor neuron disease may help us understand these more common conditions and why some people are at greater risk and what treatments may be effective.'
Mrs Bingham from Cheltenham, Gloucestershire, said: 'As Tim's mum the discovery of a gene which is linked to what happened to Tim means everything to me.
'For so long we have lived with uncertainty of not knowing the full picture.
'This breakthrough brings us great hope as it will do to all those people who have waited years for answers. This is something that helps us look to the future.'
She added: 'I'm proud of how strong Tim has been.
'He now has a girlfriend he met online who is wonderful.
'He proves there is life beyond disability.'
The study was funded by the National Institute for Health and Care Research, LifeArc and the Wellcome Trust.
Sam Barrell, chief executive of LifeArc, said, 'For many people living with rare conditions, the wait for a diagnosis can be agonisingly long – around a third wait more than five years.
'In Timothy's case, that uncertainty stretched for over twenty years.
'This discovery provides a potential target for treatment and the first step towards delivering a brighter future for people that could be living with this same devastating condition.'
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