When her daughter Amy was born, Elaine West was no nervous new mother. She already had three happy, healthy children, boys of seven and nine and a daughter of 11. But when Amy was four weeks old, West knew that all was not well. "I noticed that she would twitch her leg every now and then. I thought maybe she was a bit colicky, but by six weeks the same thing started happening to her arm. My mum saw her having one of these weird fits and agreed it was odd."
Amy got rapidly worse. "Sometimes, her leg would flick up, her arm go stiff and wave, and then she'd go blank for a minute and come round crying," recalls West.
Amy was referred to Colchester general hospital, where she was born. Admitted for overnight monitoring, she had her first fit at one o'clock in the morning, and then five more in a row. The doctors took action, ordering an ultrasound scan of her fontanelle (the membrane-covered spaces on a baby's skull), which was normal, and an electroencephalogram (EEG). This test records the electrical activity within the brain and can be used to diagnose conditions such as epilepsy.
West and her husband, Paul, were told that Amy had abnormal activity at the side of her brain, but were puzzled. West says: "We didn't really understand what abnormal activity meant. They didn't say they thought Amy had epilepsy, but she was started on phenobarbitone to control the fits. We took her home, and things improved for a couple of days, but within a week she was having four or five fits in a row every couple of hours."
West describes several months during which she took Amy to regular out-patient appointments. "Each time, her medication would be increased or she would be started on a different drug. She would be better for a few days afterwards, then the fits seemed to come back even stronger."
When Amy began having spasms in all her limbs, West says, "The doctors at Colchester were forced to admit defeat." Just before her first birthday, they referred Amy to Dr Helen Cross, a consultant paediatric neurologist at Great Ormond Street children's hospital in London.
Cross first tried medication. A drug called Vigabatrin decreased the spasms, but not the abnormal movement in her right arm and leg. After tests and scans which suggested that she did indeed have epilepsy, affecting a very specific part of her brain, Cross admitted her for a week of invasive EEG monitoring. This highly specialised technique pinpoints exactly where in the brain fits originate in children under five.
A small cut was made at the back of Amy's skull, and a "trapdoor" of skin and bone lifted free from her brain's surface. A grid of electrodes was placed on her brain and the wound was closed. Wired up, the leads from the grid connected to a bedside monitor, Amy then slept, ate and played under 24-hour video surveillance for a week.
Cross explains, "Where you are considering surgery, this form of monitoring can confirm whether the seizures are coming from one specific place, and gives the surge on the information they need about which bit of the brain could be usefully removed." Another vital piece of information the technique gives is exactly where the abnormal area borders with parts of the brain controlling essential functions, such as movement or speech - areas that the surgeons must avoid.
In Amy's case, the fits originated from poor development of an area at the side of her brain called the left posterior-frontal region. Cross and neurosurgeon William Harkness were confident that surgery could help. Indeed, as Cross says, "There's lots of evidence that the sooner you deal with early onset epilepsy, the greater chance you have to give a child back their normal early development, and hence to thrive in later life."
Looking back, West says she was shocked that surgery had become an option. "When they said they wanted to operate before Amy was two, it hit us hard. Paul was really upset but Great Ormond Street was great. They were already doing so much for Amy, but even gave us parent accommodation so we could stay just over the road."
On Amy's second birthday, a week after the operation - which is called a focal resection - she was discharged from hospital. Her mother says, "She was very upset - she'd had a tough time. It was so lovely to get her home and see how pleased she was to be there." That was almost 18 months ago, and Amy has not had a fit since. She still takes anti-convulsant medication, but Cross says this will be tailed off slowly if she is still fit-free at five.
Guided by the information from the monitoring, Harkness must have targeted his scalpel well - Amy has no problems associated with the surgery: a slightly weak right leg is attributed to under-development of part of her brain which controls the limbs, close to the epileptic focus.
Working in collaboration with its research partner, the Institute of Child Health and the National Centre for Young People with Epilepsy in Surrey, Great Ormond Street hospital is at the forefront of epilepsy research, diagnosis and treatment. Its doctors see about 20% of the UK's children with medication-resistant epilepsy, and the hospital recently celebrated 10 years of epilepsy surgery during which time it has carried out more than 300 operations.
The government's action plan on epilepsy was issued last month paving the way for next year's national service framework which will set out exactly how epilepsy services should work. Neurology has long been considered a "Cinderella" specialty. Last year, the Association of British Neurologists reported that the UK needs at least three times as many adult neurologists as it has to bring us close to our European counterparts. The situation for children is no better: Cross is one of only 64 paediatric neurologists in the UK, only two of whom work exclusively with children with epilepsy. Amy was lucky to find her.
Epilepsy: facts and figures
· One person in 20 will have an epileptic seizure at some time in their life
· Epilepsy is diagnosed in about one person in 130 at any one time, on the basis of two or more such seizures. It is the second most common neurological disorder after migraine, currently affecting about 450,000 people in the UK & 40 million worldwide
· Epilepsy can develop at any age, but is diagnosed most often before the age of 20 and after the age of 60
· People with epilepsy are generally given anti-epileptic medication, which stops seizures in about 70% of patients
· Of the 30% not helped by medication, about one third are suitable for surgery
· There are many different types of seizure, all arising from abnormal synchronisation of the highly complex electro-chemical activity in part or all of the brain
· Seizures take many forms and can affect functions such as: personality, mood, memory, sensation, movement and consciousness. Any of these may be temporarily disturbed during the course of a seizure. Epilepsy does not always involve convulsions or loss of consciousness