'She went blue and shook from head to toe'
Published: 21st Jul 2012 02:41:09
Loud noises, unexpected movements or simply touching can be enough to trigger seizures in newborn babies with "startle disease".
Their chest and throat muscles freeze, their limbs go rigid and sometimes their breathing stops.
Comforting or cuddling these babies often makes it worse.
But new research has discovered a major cause of the disorder and a genetic test for startle disease, or hyperekplexia, is now a possibility.
For the 30 or 40 babies affected by the illness in the UK each year, this could transform their lives.
Scarlett Fifield, from Grimsby, was just three hours old when she was first startled.
"I'd felt abnormal movements and vibrations in my tummy during pregnancy, sometimes 10 times a day," says her mother, Abbie.
"Then when she was born she had her first seizure, went a bit blue and shook from head to toe. It was very frightening."
The attacks became steadily worse, occurring whenever Scarlett was fed, winded or startled in any way, until on one occasion she stopped breathing and doctors had to resuscitate her.
"Having a baby is meant to be the happiest time in your life, but we felt upset and really down. My hormones were all over the place."
We want to look at the unresolved cases and do genome sequencing to find out the causes”
Abbie couldn't breastfeed her daughter because Scarlett's mouth and nose were very sensitive and touching them would trigger convulsions.
It took five weeks before Scarlett could finally go home from hospital. By then she had been diagnosed with hyperekplexia and was taking medication to control the attacks.
The only cause of the disease was thought to be mutations in the GLRA1 gene.
However, recent research, led by University College London and funded by Action Medical Research, has identified a second major cause of the disease - a mutation in the GlyT2 gene.
Dr Rhys Thomas, a clinical lecturer in neurology at Swansea University who helped carry out the research, says this discovery means families can get a definitive diagnosis.
"An early genetic diagnosis means babies can be monitored. It's important they survive the first few years of life.
"Hyperekplexia can be fatal and even though it's rare, we can be buying them 70 years of life."
Their research also means they can map out how the mutation will develop over time, and therefore how the disease will progress.
With the help of doctors and researchers from all over the world, Dr Thomas and his colleague, Professor Robert Harvey from UCL's School of Pharmacy in London, believe they can find more changes in genes that cause startle disease.
"We want to look at the unresolved cases and do genome sequencing to find out the causes in the remaining patients," says Prof Harvey.
"We want to try to resolve it in its entirety."
Doctors rarely see a baby with hyperekplexia or they often misdiagnose it as epilepsy - and that is part of the reason some children go undiagnosed.
The disorder can have serious consequences, including sudden infant death, so early diagnosis and treatment is vital.
The good news is that the disorder tends to resolve itself and by adulthood is much less of a problem, although some children can experience delays in developing speech or walking.
Some adults with the disorder, however, can find themselves dreading bonfire night, fearing slamming doors and other unexpected noises.
When babies are startled, triggering dangerous convulsions and stiffness, the nerve cells are being too easily excited because glycine receptors are impaired.
"They tense up in reaction to a sudden noise but there's no relaxation afterwards," explains Prof Harvey.
Abbie remembers how relieved she was to find how what was wrong with Scarlett.
"We thought we were going to lose her. We were relieved to know it wasn't such a bad thing, that Scarlett could live a normal life and that as they get older it gets better."
Eight-month-old Scarlett still occasionally has attacks, usually when she's asleep, her mother says.
"During the day she can make herself jump all the time but she just laughs now. A dog barking, a little tap on the back, if I walk into view... Anything like that can make it happen."
At 05:51:11 in HeadlinesThe Easter break offers no break from the political spotlight for those hoping to win over voters in the general election in 13 months' time - at least judging from Easter Sunday's newspapers.
At 05:27:39 in EnglandThe Duke and Duchess of Cambridge have marked Easter Sunday by attending a church service in Sydney.
At 04:49:43 in HeadlinesFamilies of passengers on a sunken South Korean ferry have protested angrily over the rescue operation.
At 04:24:57 in HeadlinesA businessman appointed by the prime minister to head a quango managing public funds has resigned after reports that he had been declared bankrupt.
At 02:44:02 in HeadlinesOrthodox Easter messages from patriarchs in Kiev and Moscow have highlighted the deep division in Ukraine, where a tense stand-off is continuing in the east.
At 02:25:05 in HeadlinesIslamic extremism is the "most deadly" threat to charities in England and Wales, the Charity Commission has said.
At 01:59:57 in EnglandA mother has told of her family's lucky escape after their car caught fire in the lion enclosure at a safari park.
At 01:43:20 in HeadlinesResidents of a poor neighbourhood near the Brazilian city of Rio de Janeiro have set fire to vehicles in protest at the deaths of two people in incidents involving the police.
At 01:23:11 in HeadlinesFifty years ago, England was invaded. At least, that's what the headlines claimed.
At 01:21:43 in HeadlinesSymbols, patterns and colours have been used for millennia as ways to rally the troops, frighten foes, inspire loyalty, and recognise allies.
Harvard CitationBBC News, 2012. 'She went blue and shook from head to toe' [Online] (Updated 21st Jul 2012)
Available at: http://www.ukwirednews.com/news/1441843/She-went-blue-and-shook-from-head-to-toe [Accessed 20th Apr 2014]
News In Other Categories
BBC Two is celebrating its 50th anniversary on Sunday, 20 April, having been home to many landmark programmes over the decades.
Three men in their 20s have been arrested in connection with a hijacking in Newtownabbey, County Antrim.
The Duke and Duchess of Cambridge have marked Easter Sunday by attending a church service in Sydney.
With the doors to its brand new £1million training centre officially open, one of the UK's leading apprentice training providers, Bristol based S&B Automotive Academy, is showcasing its world-class facilities by launching a series of foreign student exchanges for the first time in its 41-year history. To get a flavour of what life is like as an apprentice in the UK, the Academy hosted 16 apprentice engineers and bus drivers from the G9 Automotive College in Hamburg, Germany, as part of a Europe-wide vocational training initiative called the ‘Leonardo Programme’ with support from the European Social Fund. In a reciprocal arrangement, S&B will be sending nine apprentices to Germany during February 2012 so that they can get an appreciation of life in the automotive industry on the Continent. A further three German exchange groups are being planned for next year. Designed to assist the development of vocational skills and training across Europe, including work placements for trainees, the Leonardo Programme has a budget of €1.75bn, which is helping to encourage UK organisations to work with their counterparts abroad. In what is expected to be another challenging year for employers in the UK automotive sector, S&B’s Chief Executive, Jon Winter, claims that the exchange initiative will bring many benefits to the Academy and its apprentices: “In a world of global automotive brands, it’s important for our learners to understand the international context of the industry they have chosen to make their career. This new exchange programme will enable apprentices and Academy staff alike to achieve a better understanding of the challenges and opportunities within the automotive arena in Europe. With the Academy’s influence also extending to the USA and Asia, there’s every possibility that this initiative could move further afield in the future.” Continued Winter: “The need for skilled technicians across the world is on the increase and we actively encourage our apprentices to look at broader horizons during their training. Many of them have already learned the phrase ‘Vorsprung durch Gelehrtheit’, quite simply, ‘Advancement through learning.” In the 2010/11 academic year, S&B doubled the number of successful Apprenticeships over the previous year with some 350 apprentices graduating from the Academy. At the same time, achievement levels reached an all-time high with an overall success rate of 85%. For those learners on the Advanced Apprenticeship three-year programme, success rates were even higher, at over 98%. PHOTO CAPTION: As part of their exchange visit, S&B Automotive Academy arranged for the German apprentices to visit Hampshire bus operator, Bluestar, at its Barton Park depot. The students are pictured with S&B’s Andy West (3rd right) and Steve Prewett, Bluestar’s Area Engineering Manager (2nd right). Ends http://www.sandbaa.com
A businessman appointed by the prime minister to head a quango managing public funds has resigned after reports that he had been declared bankrupt.
Stick a bunch of people in a room with pizza, caffeine and a whole load of kit, wait 24 hours and something interesting emerges.