BBC Home > BBC News > Wales

Noise group Bonfire Night launch

5 November 09 07:08 GMT

Researchers at Swansea University are examining a rare neurological disorder which causes an exaggerated startle response.

A society aimed at helping sufferers and raising awareness of hyperekplexia has chosen Bonfire Night to launch.

The night of 5 November is one of the biggest challenges for sufferers.

Neurology doctor Rhys Thomas is hoping it will help lead to more people being correctly diagnosed and make coping easier for those with it.

Car horns sounding or a phone ringing, let alone sudden loud bangs, can cause people with the condition to jump or fall to the ground.

"It can be very frustrating having a condition that other people have never heard of and no support out there for it," said Dr Thomas.

"We want to get the information out of the scientific journals and into the wider world so people can access it."

Symptoms include muscle stiffening, stiff legs and apnoea.

But it is the reaction to sudden noise - which makes voluntary movement impossible - that can make bonfire night an ordeal.

Dr Thomas said there were many cases where patients were misdiagnosed with epilepsy or other conditions and therefore not properly treated.

He said symptoms were often most acute in sufferers in their early lives before sometimes - but not always - gradually levelling off.

Through the launch of the Hyperekplexia Society Dr Thomas is hoping to hear from more people with symptoms.

Genetic testing for the condition is carried out at the university on a research basis.

Diagnosed

The society is the idea of 35-year-old Andrew Latham of Blackburn.

He did not know he had hyperekplexia until he was 21.

"I was born prematurely and when people would tap on the incubator I would startle," he said.

He said his body had suffered from being "quite rigid and stiff" throughout his life but had seen countless doctors before being diagnosed.

"If someone sets something off like a fire work, a car horn goes or even the phone I'm literally jumping - I can't stop it. 5 November is my worst night," he added.

But he said he was always positive about dealing with hyperekplexia and now found the condition fascinating.

"I think there are many more people out there with it. The more people get to hear about it the better," he added.

"I really feel for those who've not been diagnosed. My parents never got any support when I was a youngster and I want to help."

Related BBC sites

*