Man, 28, caught flu aged two - now he needs 24-hour care
The relatives of a man who became paralysed at two years old following a bout of flu have voiced their "hope" after researchers identified that a defective gene could be behind this uncommon condition. The discovery raises the possibility of eventually developing a treatment for the illness.
Timothy Bingham was just two when he contracted what appeared to be a minor flu-like bug that robbed him of his ability to walk. Three years on, another infection struck, leaving him paralysed and wheelchair-bound ever since.
His mother, Kate Bingham, whose son is now 28, explained: "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."
Scientists encountered the rare condition once more in 2011 when an unnamed eight-month-old girl was left dependent on a ventilator to breathe following what started as a mild chest infection. Researchers began to suspect a genetic component might be at play after discovering the girl's two brothers had suffered similar devastating effects from seemingly minor infections.
Scientists at the University of Manchester have discovered a genetic mechanism that triggers severe reactions to mild infections in certain children, linked to a modification in the RCC1 gene. The research identified 24 children from 12 families across the UK, Turkey, Czech Republic, Germany, Iran, India, Saudi Arabia, Cyprus and Slovakia, all exhibiting changes in this same gene.
Published in Lancet Neurology, the researchers describe how the condition "mimics" Guillain-Barre syndrome - a rare disorder where the immune system attacks the nerves - and shares mechanisms with motor neurone disease.
The study, led by Professor Bill Newman from the University of Manchester, reveals that "variants in RCC1 as a novel cause of neurological disease".
Professor Newman said: "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.
"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, expressed her relief at the discovery: "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 research leading to this discovery received funding from 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 20 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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