Battling Epilepsy, and Its Stigma

The first thing you notice about 12-year-old Nora Leitner is the dark circles under her eyes. They stand in stark contrast to the rest of her appearance; at a glance she might be any petite, pretty tween girl, with her blond ponytail, elfin frame and thousand-watt smile. But the circles tell a different story: Nora looks as if she hasn't slept in a month.

In a sense, she hasn't. Nora has epilepsy, and as with 30 percent of those with the disorder, her seizures are not controlled by existing treatments.

She often has more than one seizure a day, mostly at night. Her seizures, called tonic-clonic (what used to be known as grand mal), cause her to lose consciousness for a full minute while her body convulses.

While some people feel an ''aura'' of symptoms before a seizure, Nora's happen entirely without warning. When she seized at the top of a staircase in her home in Yardley, Pa., it was plain luck that her parents were at the bottom and caught her as she fell. Though she is on the brink of adolescence, she is rarely, if ever, left alone.

Fifty million people have epilepsy worldwide, and more than 2.7 million in the United States, half of them children. Especially in its intractable form, also called refractory epilepsy, the disorder -- and the side effects of epilepsy medications -- can cause problems in learning, memory and behavior, and indelibly alter development. It can also consume families, monopolizing their time, money and energy. Yet despite the number of people with epilepsy -- the disorder affects more Americans than do Parkinson's disease, multiple sclerosis and Lou Gehrig's disease combined -- it still carries a stigma that dates to ancient civilizations. Many patients, doctors and families say that stigma hampers care, public recognition and the ability to raise money for research.

''There is an ongoing, significant embarrassment level about it,'' said Dr. Orrin Devinsky, director of the Epilepsy Center at New York University. ''The feeling, for a lot of people, is that it does carry a lot worse stigma than a cancer, or an H.I.V. even. At some level, it's society that needs to wake up and realize it's just another neurologic disorder.''

Warren Lammert, who runs a financial firm in Boston and whose daughter has epilepsy, founded an organization in 2002 with Dr. Devinsky and two others to support research into new treatments. ''It's better today,'' he said about public perceptions of the disorder. ''But even among well-educated people, people don't like to talk about epilepsy.''

While many public figures with cancer (or cancer in the family) are forthcoming about the illness, Mr. Lammert said, the same does not go for epilepsy. And though his organization, the Epilepsy Therapy Project, has two strong public representatives -- the Olympic women's hockey goaltender Chanda Gunn and the hip-hop artist D J Hapa -- the disorder has never found an icon like Michael J. Fox, whose openness about Parkinson's disease helps raise tens of millions of dollars a year for research.

Meanwhile, despite advances that have helped people with treatable epilepsy, the 30 percent rate for the intractable form has changed little in 40 years. ''Refractory epilepsy remains an enormous problem, and there's just no doubt about it,'' Dr. Devinsky said.

Epilepsy results from an electrical disturbance in the brain (though at various stages in history it has been thought of as evidence of a connection to the divine, a sign of demonic possession or the mark of a witch). Types of seizures vary from staring episodes or eye blinks to sudden falls or convulsions. All can be debilitating, depending on factors like frequency and the age when they start.

Comprehensive Epilepsy Centers, medical practices that specialize in treating the disorder at 50 hospitals around the nation, represent the gold standard in therapy. Treatments include anticonvulsant medications, which can have profound effects on memory, behavior and cognitive ability; the ketogenic diet, a restrictive plan that has had remarkable success in controlling seizures; an implanted stimulator that sends regular pulses of electricity to the brain; and surgery to remove an affected area of the brain.

In the last two decades, surgery has changed the landscape of epilepsy for many patients, including children. Yet Nora Leitner, like many others, is not a candidate for surgery because her seizures involve all of her brain, rather than a localized area.

For Nora, her parents, Lee and Kina Leitner, and her brother, Ethan, 6, epilepsy has become the center of the universe, governing decisions about everything from where to live to whether to go out to dinner.

''The level of frustration and the level of stress is just phenomenal,'' said Ms. Leitner, 58, a resilient and energetic college professor.

Mr. Leitner, 48, also a professor, hates seeing Nora's youth overwhelmed by the illness. ''Her childhood is defined by this,'' he said, ''and it's really sad.''

The Leitners' experience is typical, Dr. Devinsky said, adding, ''It involves everybody to an incredible degree.''

Looking back, the Leitners think Nora had her first seizure in utero two weeks before she was born. Her first recognized seizure happened when she was 41/2 months old; a month later, she had five seizures in three days. The formal diagnosis came after her first birthday. Dr. Christina Bergqvist, Nora's neurologist at Children's Hospital of Philadelphia, said Nora's M.R.I. shows visible abnormalities in her brain.

The critical struggle in Nora's care, as for many children with epilepsy, has been to safeguard her cognitive life. Children with intractable epilepsy display a wide range of abilities, from normal functioning to profound retardation; Nora falls somewhere in the mid-high range. Her speech is extremely slow and very soft; she often frowns before answering a question, as if struggling to formulate her response. While her answers are usually accurate, her response time is very slow, and she sometimes is not aware that she has been asked a question at all.

Yet beneath the layers of difficulty is a sharp mind, an avid reader in a home filled with books, a child whose favorite subject is science and who can discuss ancient Egyptian culture and identify common vertebrates and invertebrates. Despite her halting speech, she tells a reporter that her chore in the house is looking after the recyclable cans and bottles.

''Nora's responsible for taking those out,'' Ms. Leitner said. Her daughter added dryly, ''Yeah, without asking.''

That child, and those submerged abilities, were what Ms. Leitner first saw clearly in 2000, when Nora went off a medication called Depakote. The side effects of anticonvulsant medications are often as disabling as seizures themselves, and Nora's life on medication had begun at 6 months, when her doctor prescribed phenobarbital, a drug that causes cognitive and language delays.

''We were beside ourselves,'' said Ms. Leitner, who teaches psychology at University of Maryland University College and who suddenly found herself putting her expertise to work for her own child. ''One of my biggest concerns was, do we medicate her? I knew that the drugs they used to treat epilepsy were all cognitive depressants.''

It is the Solomon's choice faced by parents of children with intractable epilepsy: risk the damage wrought by seizures, or the side effects of medication? Over the next five years Nora tried eight or nine medications, and in 2000, at age 6, she entered first grade taking two anticonvulsants, Depakote and Topamax, every day.

Then she caught a break. The Depakote made her so sleepy that Ms. Leitner rescheduled the lunchtime dose so she would be alert at school. After a few months, they dropped the midday dose entirely. Suddenly, a new Nora surfaced.

''It was a phenomenal change,'' Ms. Leitner remembered. ''She was awake, alert. We took away another dose; then that summer, we took the last one away and she started seizing again. But she had started talking, reading, everything she hadn't done before; she never talked in full sentences until she was 6 years old. I wasn't willing to go back.''

In October 2002, Nora went on the ketogenic diet. It is like the Atkins diet in overdrive: it mandates vast quantities of fats -- like oil, which Nora drinks from a small bottle -- and almost no carbohydrates. Every morsel is weighed, and no deviations are allowed. Within weeks, Ms. Leitner says, they saw pronounced changes in Nora's abilities and attention span. Over the next 21 months, she had only two seizures.

But in the summer and fall of 2004, there were three more, and that October, while swimming at school, Nora had a seizure and nearly drowned. Within a year, she had begun to have a seizure or two a month as she entered puberty. Last March she had a vagus nerve stimulator implanted, but her seizures became so frequent that by May the Leitners had the device turned off. Since then, she has often had more than one seizure a day.

Families of children with intractable epilepsy often have a hard time getting the constellation of services they need. ''Throughout the years, we've had to find things out for ourselves,'' Ms. Leitner said. ''Nobody ever said to us, 'Nora needs speech therapy,' or 'Nora should see a developmental pediatrician.' '' Even finding the right school was a trial; the Leitners now drive Nora 30 miles each way to the Orchard Friends School in Moorestown, N.J.

Social isolation is a persistent issue. Schools may not want to include students with epilepsy on field trips; peers may not invite them for sleepovers. ''A lot of it just seems to be awareness issues,'' Mr. Leitner said. ''Most people have never seen somebody have a seizure.''

Dr. Bergqvist agreed. ''It is frightening to see a child seize,'' she acknowledged. ''And then based on that fright, people decide, 'I can't deal with that child.' People still think it's contagious.''

In late November last year, the Leitners agreed to give the vagus nerve stimulator another try. Nora has stayed on the diet, though it appears to be no match for the effects of puberty. Meanwhile, she is having as typical a 12-year-old life as she can. She loves to swim and has taken gymnastics, piano lessons and hip-hop dance classes; her bedroom brims with books, dolls and stuffed animals; she dotes on the family dog, Franklin, and the cat, Lily.

Dr. Bergqvist says Nora could experience a remission after she goes through puberty. Until then, the choices continue. But Ms. Leitner acknowledged that their approach may have to change. ''At a certain point, I'm going to have to stop worrying about her ability to think and go for the seizure control,'' she said.

But she knows that it will not be easy. ''If she had always been the way she was before the diet, I probably wouldn't be as dramatic about this as I am,'' she said. ''But I've seen what she can do.''

For his part, though, Dr. Devinsky says that families like the Leitners, torn as they may be over the correct path to take, are on the right track.

''If there's a message, it's not to give up,'' he said. ''They should do everything possible to maximize the quality of life of their child, but at the same time, never, ever give up. Because there will be other things coming down the pike.''

Copyright © 2007 by The New York Times Co. Reprinted with permission.