by Scientists have discovered a faulty gene that may have paralyzed a man as a toddler after caught the flu.
Timothy Bingham was two years old when he had a mild flu -like illness in which he couldn’t walk.
Three years later after another infection, he was paralyzed and has been in a wheelchair since then.
But now his family is hopeful after scientists have uncovered what could be responsible for the rare state.
It is to be hoped that the finding may lead to treatment for the disease one day.
Kate Bingham, mother of Timothy, who is now 28, said: “About 25 years ago, Tim got flu like an infection and a temperature.
“What seemed like a little illness had devastating consequences.
“The attack and the subsequent attacks – first on the legs, then his arms, his face and his chest.
“And now he needs 24-hour care. His diaphragm hardly works so that he cannot cough.
“It is difficult for him to chew and he cannot drink without support. He cannot move in bed, so he has to turn all night.
The rare condition was rediscovered in 2011 when an unnamed eight -month -old girl could no longer breathe without the support of a ventilation device after a mild breast infection.
Scientists suspected that there could be a genetic reason for the disease after the girl’s two brothers had similar problems after slight infections.
Timothy Bingham with his mother Kate (family handout/pa wire)
Now scientists from the University of Manchester have found a genetic mechanism behind the serious reactions to mild infections that were observed in these children – a change to a gene called RCC1.
The researchers found that 24 children from 12 families from Great Britain, Turkey, the Czech Republic, Germany, Iran, India, Saudi Arabia, Cyprus and Slovakia have changes in the same gene.
The research team in the magazine Lancet Neurology describes how the condition “imitates” the Guillain-Barre syndrome-a rare disease in which the immune system of a person attacks nerves-and “mechanistically” with motoneurone diseases.
The research team led by Professor Bill Newman from the University of Manchester said that their study shows that “variants in RCC1 as a new cause of neurological diseases”.
“Until this study was little known about why some people had severe nerve damage after having mild infection such as flu or stomach upset,” said Professor Newman.
“This work provides families an explanation and is the first step to develop effective treatment. Since children develop well with nerve damage after an infection, this gives the opportunity to treat the risk of children before problems occur.
“The similarity to the Guillain-Barre syndrome and with diseases such as motorurone disease can help us understand these more frequent diseases and why some people have a higher risk and which treatments can be effective.”
Bingham’s disability means that it requires 24-hour care (family trade/PA wire)
Ms. Bingham from Cheltenham, Gloucestershire, said: “When Tim’s mother, the discovery of a gene that has been connected to Tim, everything means to me.
“We lived with uncertainty for so long not to know the full picture.
“This breakthrough brings us great hope of how it does everyone who has been waiting for answers. This is something that helps us look into the future.”
She added: “I am proud of how strong Tim was.
“He now has a friend he met online who is wonderful.
“He proves that there is life beyond the disability.”
The study was financed by the National Institute for Health and Nursing Research, Lifearc and The Wellcome Trust.
Sam Barrell, Managing Director of Lifearc, said: “For many people who live with rare conditions, waiting for a diagnosis can be painful – around a third wait more than five years.
“In Timothy’s case, this uncertainty extended over twenty years.
“This discovery offers a potential goal for treatment and the first step to offer people a better future that could live with the same devastating state.”
