Epilepsy - Taming seizures and dispelling myths

Saturday 25 February 2006 1:00PM

Until the 18th century epilepsy was associated with the supernatural or seen as the work of the devil, and it continues to be surrounded by social stigma. There's still a hard core of sufferers who aren't helped by medication - despite the plethora of new drugs being developed. Lynne Malcolm speaks with a brave young girl who turned to brain surgery after years of daily seizures, a woman whose life has been transformed by nerve stimulator implanted in her chest and a geneticist who gives us hope for the future.


Relevant links and references at the end of the transcript

Lynne Malcolm: Hello again, Lynne Malcolm with you for All in the Mind and today, epilepsy  a brain condition shrouded in mystery.

Annie Bye: There was a time when people used to refer to these people as being psychiatrically disturbed or for example possessed by the Devil.

Sam Berkovic: As far back as Hippocrates, that great Greek physician 2,000 years ago, he recognised that epilepsy did have a tendency to be inherited. But unfortunately through much of the subsequent 2,000 years there was a lot of mythology and superstition and prejudice against people with epilepsy.

Annie Bye: What is unique about epilepsy is that it occurs suddenly and unpredictably. And I think the mystery that it conjures up lies in that fact. I think the brain is often considered a black box, so there's lots of room for further research, and the pleasing thing is that people around the world are trying to tackle that.

Lynne Malcolm: Epilepsy specialists Sam Berkovic and Annie Bye. It's thought that epilepsy is the most common neurological disorder of the brain, affecting around 40 million people globally. And even though great improvements have been made in our understanding of the condition in the last 15 years, there's still a lot we don't know.

Today we'll hear about the latest approaches to this intriguing disorder and shortly we'll hear a young girl's account of her struggle with epilepsy. First though, what is this condition? Professor Sam Berkovic from the Epilepsy Research Centre at the University of Melbourne.

Sam Berkovich: It's defined as the tendency to take recurrent epileptic seizures. And epileptic seizures come in a variety of types, the best known type is the major convulsion or what used to be called grand mal; and we call the tonic-clonic seizure, where the patient will suddenly, often without warning, literally be seized and go into a state where their muscles are contracting, what we call a tonic phase, and then they jerk and that's the clonic phase. And this whole horrible thing lasts about 60 seconds, after which they may be extremely confused and need to sleep for a day or so. And that's what most people know as a seizure, but there are a whole variety of other perhaps less spectacular varieties which affect different parts of the brain.

And fundamentally the brain works by the nerve cells communicating with each other by little electrical and chemical signals, and when that communication system becomes disrupted and there's literally, if you like, a brain storm in the colloquial sense, that's what a seizure is, it's an uncontrolled burst of abnormal electric activity.

Lynne Malcolm: And for those who experience epilepsy it can have a devastating effect on their lives.

Gail Williams: I'm Gail Williams and I'm 16 years old.

Jenny Williams: Hi, my name is Jenny Williams, I'm Gail's mum.

Lynne Malcolm: Gail can you tell me when you first had an epileptic seizure?

Gail Williams: Well I was only about four years old when I first started having seizures and at the time I would tell my mum that I was sad and my eyes would deviate to the left and that's all I can really remember as well.

Lynne Malcolm: And how often would that happen?

Gail Williams: At the time about every ten minutes when I was first diagnosed.

Lynne Malcolm: Jenny tell me what it was like when Gail was first having the seizures, what did you observe?

Jenny Williams: Well with Gail it wasn't just an onset of seizures she was actually sick, so I took her to the hospital and whilst we were there she had a tonic-clonic seizure, her body started shaking and...

Lynne Malcolm: That's a very frightening thing to observe.

Jenny Williams: It was, yes, it was one of the worst days of my life. But luckily that was the only one that she did have, the rest were just the petit mal seizures after that.

Lynne Malcolm: More from Gail Williams later. The causes of epilepsy range from some form of brain injury through to unknown and possibly genetic factors. And as Gail experienced, seizures can vary from the petit mal type through to the grand mal seizure depending on what part of the brain is affected. And I must say the first time I saw a child having a grand mal seizure I couldn't imagine that he could come out of it, at least without brain damage. Dr Annie Bye from the Prince of Wales Children's Hospital in Sydney specialises in childhood epilepsy.

Annie Bye: That's a universal response, it's very frightening to see a grand mal seizure (meaning a generalised seizure in which someone goes stiff and shakes and doesn't have awareness and may lose colour and may wet themselves). And virtually every mother will feel that their child is going to die. And I've seen many, many seizures through the work that I do and would continue to find it distressing and upsetting. It's just a fact of life. However it is rare to die in a seizure, though there is a risk, particularly in the grand mal or generalised seizures that we've just been describing.

It is the reason why certain precautions are taken, the strict rules about driving and of course water, because if you have a fit in the water the likelihood of drowning is high; unless there is someone right there to help you, there is the risk. What I think you're also asking in your question is the potential  the person comes out of the seizure, which is by far the most likely thing that's going to happen. Most seizures are brief seizures that terminate of themselves and the person recovers with no damage whatsoever. There's a lot of research and discussion about whether continued recurrent seizures for example cause further damage and affect memory. And there is probably the potential to do that over the very long term, but I think it's important to remember epilepsy is common, seizures are common  the vast majority of seizures don't cause immediate damage to the brain.

For the person themselves it's not only the seizures that matter. Very often children or teenagers or adults with seizures have other issues such as difficulties in learning, difficulties in behaviour, issues related to medication, self-esteem, depression. And it's all of these issues that need to be managed just as much as the seizure.

Lynne Malcolm: Dr Annie Bye. Now back to Gail Williams, who continued throughout her childhood to have petit mal or partial seizures, which would begin with strange hallucinations known as an aura.

Gail Williams: They would start with just this feeling that they are going to happen which was the aura.

Lynne Malcolm: What's your aura like?

Gail Williams: I would see flashing colours and lights rather and then this dizzy feeling which I would call fit-dizzy and then I'd say Mum, I'm having a fit, or I'm having a seizure and I would see different objects and images. A couple of times I saw a rainbow on my Dad's steering wheel, other times I saw the fit man.

Lynne Malcolm: The fit man, what does the fit man look like?

Gail Williams: The fit man was just an ordinary man but when I saw this man I sort of felt like everything was safe and nothing was going to hurt me. And a couple of times I saw the fit lady as well and she told me that she was my friend and that she liked me. Another time I saw stars doing black flips. That was at soccer training after having a seizure.

Lynne Malcolm: Wow.

Gail Williams: So just all these different images that I would tell people about but not recall them after having a seizure.

Lynne Malcolm: The aura is what many people experience as a warning that a seizure is coming on. But Dr Ernie Summerville, director of the Comprehensive Epilepsy Service at Sydney's Prince of Wales Hospital says that the aura is actually the start of the seizure itself.

Ernie Summerville: What happens is that the seizure has started in just a small area of the brain so the rest of the brain's functioning normally so the patient remains awake, can talk, can describe what they are experiencing and can remember it afterwards. Once the seizure activity spreads through the brain then the patient loses consciousness and can't remember what's happened. The actual content of the aura depends on which part of the brain is involved in the beginning of that seizure. If it's the part of the brain that's concerned with vision they may see flashing lights or coloured shapes or all sorts of things. And if it's the part of the brain that's concerned with memory, temporal lobe, then they can experience déjà vu or have memories come back to them; funny smells is another one. Patients for example can have the feeling that they're standing outside their body looking at themselves or they can have the feeling that there is somebody behind them, just about anything that your brain is capable of can be the aura for a seizure. And very commonly patients have enormous difficulty putting into words what it is that they're experiencing.

Lynne Malcolm: So it's no wonder that epilepsy has this sort of mystical feeling around it.

Ernie Summerville: Well that's right, I mean that's one of the things that makes the study of epilepsy fascinating because it just shows what the human brain's capable of and it's just an enormous array of bizarre things that can happen.

Lynne Malcolm: So what's the most common form of treatment for epilepsy? Dr Annie Bye says that the first line of treatment is medication.

Annie Bye: Of all of those with epilepsy, and 1% to 2% of the population have epilepsy so it's not an uncommon problem, approximately two thirds will be easily controlled with one or two medications and that's a very important message to establish. There are a group of children or adults who are hard to control, who even with medication and numbers of trials, seizures continue to occur.

Lynne Malcolm: And this is despite the plethora of new drugs which have been developed in an attempt to improve treatment and particularly to cut down on some of the side effects many people experience with epilepsy medication. Dr Ernie Summerville says that it's disappointing that the new drugs haven't provided a more effective solution.

Ernie Summerville: There's a lot of people where if we treat them with the new drugs their seizures will lessen in number but what's really important for patients is for their seizures to stop completely. And unfortunately we can only achieve that in 5% to 10% of patients, so that is, of those patients where the older drugs have not been effective and we try the newer drugs, only 5% to 10% of those people will have a complete cessation of their seizures.

Lynne Malcolm: So there's still a group of people that just can't be treated by medication effectively?

Ernie Summerville: Yes, that's right. There's still unfortunately a hard core of patients that are pretty resistant to therapy.

Lynne Malcolm: So at some point in your life you started to have the fits regardless of the medication, is that right?

Gail Williams: Yes, when I was about 13, I started having seizures just constantly even though I was taking my medication.

Lynne Malcolm: How often?

Gail Williams: About two to three times a day. I had to take higher doses of medication, change medications all the time so it was affecting my learning. From the side effects of the medication I was missing days off school, I just basically emotionally wasn't there, so I just couldn't participate in social events; I was like a walking zombie.

Lynne Malcolm: Jenny, what was it like for you at this stage watching Gail go through this?

Jenny Williams: It was frightening not knowing what the next step was going to be because the seizures were getting worse, like they were lasting three to five minutes a lot of them, which after one she would have to sleep for sometimes up to four hours. It was a very difficult time.

Lynne Malcolm: Okay, so when the fits became uncontrolled around the age of 13, what did the doctor suggest then?

Gail Williams: He suggested epilepsy surgery and when I first heard about it I was a little bit frightened, I will admit. Then I was eventually just hopeful that there was an answer to what was going on.

Lynne Malcolm: In a small percentage of cases like Gail's, epilepsy surgery is recommended when the seizures can't be controlled with medication. Understandably it's a rather frightening prospect and not an easy decision to make, but Gail was determined to try and improve her life. Dr Andrew Bleasal is a neurologist specialising in epilepsy at Westmead Hospital in Sydney, and he says surgery is only suitable for people whose epilepsy is localised to one side of the brain, most commonly in the temporal lobe region. And accurately locating the affected area using brain imaging technology is key. He says that under 2% of all people with epilepsy undergo surgery in Australia.

Andrew Bleasal: So a small percentage, but because epilepsy's a very common disorder the numbers are significant in our sort of teaching hospital environment.

Lynne Malcolm: So what actually happens with surgery, what do you do?

Andrew Bleasal: The two principles of considering surgery are one, to show that the seizures are confined to one spot and then to show that that spot could be removed.

Lynne Malcolm: So it's actually removing brain tissue?

Andrew Bleasal: Oh yes. Now the best case for surgery is if there is a so-called lesion of the brain and that could be a number of things  a tumour, a scar, a malformation of the brain. Now that's a question that commonly people ask when you're discussing the prospect of surgery that surely touching the brain and cutting it in that way would just leave further scarring. But in fact the surgeon removes this largely by suction and some so-called diathermy, burning of blood vessels, to extract the area that's to be removed. It doesn't actually leave a scar as such, certainly not a scar that then produces seizures. So it's removed according to fairly standard neuro-surgical techniques.

Lynne Malcolm: So because it's crucial to locate the problem in such a definite way I imagine that imaging techniques are absolutely crucial to this process.

Andrew Bleasal: Look, there's no doubt about that. The advent of modern imaging especially the MRI scan has led to a much greater use of epilepsy surgery and a much more ready assessment of people for surgery. So prior to the modern imaging it was a much different form of assessment. Nowadays it's gone beyond the excitement of finding all of these lesions to the point where we now deal with people with a particular group where we know the epilepsy's quite localised but we can't find the lesion on the MRI scan. And these people have actually earned themselves a label, these are referred to as non-lesional partial epilepsy and that is one of the greatest challenges now to solve for epilepsy surgery.

Lynne Malcolm: And Gail Williams happens to fall into this difficult group Dr Andrew Bleasal mentioned. Her epilepsy was not due to a brain lesion and the problem was not in the temporal lobe but in the parietal occipital lobe of her brain which is related to vision. How did she feel after her surgery?

Gail Williams: It was really painful afterwards but then after the pain had gone and I hadn't had any seizures I just felt different. And then gradually I got used to it but I had still lost a bit of my upper left quadrant of vision so I had to get used to that. I guess I still have a few difficulties but it's going okay.

Lynne Malcolm: And did you notice that it affected your memory in any way?

Gail Williams: Yeah, it affected my memory incredibly afterwards. I had trouble remembering different things at school and adjusting to those different difficulties was a big strain on me emotionally. But now, after adjusting, it's been okay.

Lynne Malcolm: So how did you feel about it immediately after the surgery and as the time went on?

Jenny Williams: I was I mean happy to see Gail being able to be a normal teenager and just to live a normal life. I mean it's been a difficult time since the surgery, it hasn't just been all easy sailing. She went through a bit of a grieving period.

Gail Williams: I just longed for the fit man and the seizures. And I was confused because I didn't understand why, like why would I want them back? And it took great understanding to realise but they were my comfort. They took me from the outside world and just gave me this safe place.

Lynne Malcolm: So how often do you have seizures now?

Gail Williams: I haven't had a single one since the surgery.

Lynne Malcolm: That's dramatic.

Gail Williams: It's fantastic.

Lynne Malcolm: You must have been so relieved.

Gail Williams: Very.

Lynne Malcolm: 16-year-old Gail Williams with her mother Jenny. And Gail is now doing well at school in Year 12. Dr Andrew Bleasal says that in most patients who undergo surgery 70% to 80% can expect vast improvement. And he recommends that people shouldn't hesitate to at least be assessed for surgery if they are in the minority of people for whom medication isn't working.

So Gail's surgery seemed to be successful and she's very happy with the outcome; she's been seizure free although she does have still problems with her memory. Is that common?

Andrew Bleasal: Yes, that is common. I think that that's unlikely to be related to the surgery as we weren't anywhere near those circuits within the brain. But something that's very evident is that those people that have an onset of epilepsy  and hers was when she was very young, about four years old,  may in fact have learning difficulties and memory difficulties that outlast successful treatment of the epilepsy either with medication or surgery. Now one of the great challenges is to work out why that is. Now another very important thing that you couldn't miss saying, and I don't know whether we can solve this yet, is whether the drugs we use can be affecting learning and memory. And a lot of parents and patients with epilepsy are very concerned about that but the evidence would suggest it's a comorbidity that goes with the epilepsy and the severity of the epilepsy rather than the treatment of the epilepsy. But unfortunately we're not showing dramatic improvements despite treating the epilepsy.

Lynne Malcolm: You're with All in the Mind on ABC Radio National, Radio Australia and via podcast on your portable mp3 player. I'm Lynne Malcolm and we're exploring the mysterious and often devastating condition of epilepsy. Another option for a tiny minority of patients is a battery powered implant called a vagus nerve stimulator which can prevent or reduce the severity of seizures.

Dr Ernie Summerville from the Prince of Wales Hospital in Sydney.

Ernie Summerville: It's been found that electrical stimulation of the vagus nerve, which is one of the main nerves from the brain which controls all sorts of things including the heart and the stomach  stimulation of that nerve can reduce the occurrence of seizures. So vagus nerve stimulation consists of the implantation beneath the skin of a small device like a heart pacemaker and it has some wires which pass underneath the skin and attach to the nerve in the neck. Every five minutes the device is switched on for 30 seconds and provides little electrical impulses into the vagus nerve. They travel up to the brain and in some mysterious way, which nobody really understands fully, they can reduce seizures.

Lynne Malcolm: Valerie Dredge has had epilepsy since she was 12 and it couldn't be controlled by drugs or surgery. She had the Vagus Nerve Stimulator implanted seven years ago and she's just had the battery renewed.

So at the moment you've got some plaster just over your chest there and that's where the stimulator is?

Valerie Dredge: Yes, if I know a seizure's coming on I've got a magnet, I've got to grab it and put it like here, the seizure might have just started say for five seconds, it'll stop it then and there.

Lynne Malcolm: And that feeling, that indicates that you're about to have a seizure, tell me what it's like.

Valerie Dredge: Well usually now I know because I get like a twinging feeling down the side of my left eye, the side of your brain, it's like a fullness. It's not a pain, pain; it's a stinging feeling and I know, I think oh yeah, don't tell me, something's coming on. I just persevere with it and another five seconds and it gets stronger  I used to get real bad seizures that used to go right down the side into my left arm and into my left leg but I don't get all that any more; it's just in the left side of the face. But now I'll be able to use the magnet and it won't go to the face any more, hopefully.

Ernie Summerville: Yes the magnet essentially is a way of switching on the device. The device switches on automatically every five minutes but if it happens to be switched off at the time when a seizure occurs and some patients can feel their seizures starting, then they can switch the device on by placing a magnet over the top of it, or one of their family or carers can do the same thing. And that may abort the seizure or it may shorten the duration of the seizure.

Lynne Malcolm: And before Valerie Dredge had her implant she couldn't even leave the house alone. So overall this has made a significant difference to your life?

Valerie Dredge: Yes, given me a better quality of life and I feel like anybody else out there, you know. I can't drive or that but at least I can get out there and do anything else.

Lynne Malcolm: Valerie Dredge, she's been one of the lucky people who's benefited from the stimulator and it does give her a sense of control. But Dr Ernie Summerville says that this device is not widely used because it's expensive and the success rate has not been very high.

Despite the progress that's been made with drugs, surgery and new technology, there's still a lot that is unknown about epilepsy. Australia leads the world in research into the genetics of epilepsy and Professor Sam Berkovic is at the front line as director of the Comprehensive Epilepsy Program at the Austin Hospital in Melbourne, where they've identified a number of genes associated with the disorder. He says it can run in families but not in a predictable way. And also that the stigma around epilepsy has made research a little more difficult. I asked him how the new genetic information is going to help with diagnosis and treatment.

Sam Berkovic: At the moment the number of genes that have been found, or that perhaps the per cent of people with epilepsy where we've found the genes is relatively small. But as that grows the genetics will become part of a sort of diagnostic armamentarium. It's still not a routine thing although there are tests available for certain forms of epilepsy already available because of this work. Secondly the great increase in knowledge that we've got about the clinical genetics, in other words how the conditions are inherited, is of great importance in genetic counselling and this is something we use every day practically in talking to our patients and families with epilepsy. What's the chance that my child will have the condition if I've got it, or if my siblings have got it, etcetera. And we're now in much more powerful position to give accurate information about that.

And finally by understanding the fundamental causes of epilepsy at a genetic level and at a biochemical level, we hope that that's going to lead to better therapeutics.

Lynne Malcolm: So what's the research that you're working on at the moment that you'd be most excited about?

Sam Berkovic: Well the area that we found perhaps to be the most important, or the most important gene so far to be important for epilepsy, is a gene for what we call the sodium channel. Sodium as you know is salt and the salt levels in the brain and in the blood are extremely important for the way cells work and particularly excitable cells like nerve cells. So we and a number of other groups around the world have found a variety of changes in the neuronal sodium channel, which regulates the way the sodium gets into the cell and cause a variety of epilepsies. And we've really been surprised at the spectrum of conditions that changes in these sodium channels can cause. And testing for changes in the sodium channel is now relevant to clinical practice, particularly for a severe group of childhood epilepsies, where we think early diagnosis and treatment may well change the outcome for these children.

Lynne Malcolm: Can you use this sort of information to find out why some drugs work with some people and not with others? And then there are some unlucky people who don't respond to medication at all.

Sam Berkovic: Yes, that's a very topical question. There's a whole new field of what we call pharmaco-genetics which is the genetic determinants of the way we respond to drugs. And you're absolutely right that two patients with an apparently similar form of epilepsy  one might respond extremely well and the other might respond extremely poorly. We're trying to understand the reasons for that.

One of the reasons may be that their fundamental cause of their epilepsies is different but there might be other causes. For example there may be genetic differences that stop the drug being absorbed, or stop the drug getting into the brain, or increase the rate the drug's broken down. And this is a very new and emerging field. Now applying that in the clinic is still some way off but we've got at least now the tools to start to probe that.

Lynne Malcolm: Sam Berkovic from the University of Melbourne, whose work offers hope for future treatment of epilepsy. Lastly to Gail Williams.

So has this experience triggered an interest in matters of the brain for you?

Gail Williams: It has, incredibly, and epilepsy itself, I guess. I guess I hope to go somewhere there in future prospects. You can always fulfil your dreams and don't ever let anyone hold you back even though you have the condition. I guess even though there was this significant adjustment period afterwards that took me on this great emotional roller coaster, I guess now I can say it was worth it.

Lynne Malcolm: Thanks to Gail Williams, her mother Jenny and to Valerie Dredge for their willingness to tell their stories about living with epilepsy.

Today's program was produced by Pauline Newman with sound engineer Jenny Parsonage. Don't forget to visit our website at abc.net.au/rn. I'm Lynne Malcolm and join me next week for All in the Mind on ABC Radio National because I'll be speaking with a fascinating psychiatrist with a PhD in English literature and she's delved into what makes a creative brain. Don't miss it.


Gail & Jenny Williams
16 year old girl who had surgery for her epilepsy
and Gail's mother, Jenny
Dr Andrew Bleasal
Neurologist specialising in epilepsy at Westmead hospital and Westmead Childrens Hospital
Professor Sam Berkovic
Director of the Comprehensive Epilepsy program which is the clinical arm of the program at the Austin hospital
Epilepsy research centre - Department of Medicine for the University of Melbourne at Austin Health Heidelburg Melbourne
Associate Professor Ernie Summerville
Director of Comprehensive Epilepsy Service at the Prince of Wales Hospital in Sydney
Dr. Annie Bye
Senior pediatric neurologist at the Sydney Childrens Hospital
Associate conjoint professor at the University of NSW with a major interest in Childhood epilepsy.
Valerie Dredge
Epilepsy patient who uses Vagus Nerve Stimulation


Lynne Malcolm
Pauline Newman