Because of the strict Ketogenic diet that she is on to control her epilepsy, Nora Leitner gets frustrated after her mom wouldn't allow her to have any extra food at lunch.
In Brief:
Epilepsy affects millions of families worldwide; half of all epilepsy patients are children. The disease has long carried a stigma that persists today, hampering progress in care and public awareness.
Some 30 percent of patients, many of them children, have intractable seizures that cannot be controlled by existing treatments. The first thing you notice about 13-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 seizures 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.
Epilepsy affects 50 million people worldwide and more than 2.7 million people in the United States; half of all patients are 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. Epilepsy can also consume families, monopolizing their time, money and energy.
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 the 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 Development 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,,” 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. The 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, 7, 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, 60, a resilient and energetic college professor.
Mr. Leitner, 49, 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 4 ½ 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 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 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 said. “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 drank from a small bottle, and almost no carbohydrates. Every morsel is weighed, and no deviations are allowed. Within weeks, Ms. Leitner said, there were 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. In March 2006 she had a vagus nerve stimulator implanted, but her seizures became so frequent that the Leitners had the device turned off two months later. 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., and they will begin home-schooling her in the fall.
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 said. “And then based on that fright, people decide, ‘I can’t deal with that child.’ People still think it’s contagious.”
In late November 2006, the Leitners agreed to give the vagus nerve stimulator another try, but it made no difference in Nora’s seizure control. In fact, in the first half of 2007, her condition deteriorated to the point at which, on two separate days that summer, she had 19 full-blown seizures each day.
A few months earlier, in March 2007, Dr. Bergqvist had been surprised to discover that a genetic test on Nora came back positive for a mutation called SCN1A, which is linked to a variety of severe seizure disorders.
In August, Nora began taking stiripentol, a high-priced medication that has been approved in Europe, but not the United States, to treat patients with SCN1A mutations. (It is not covered by insurance plans in the United States.) In combination with two other medications, it brought her seizures completely under control at first. They have come and gone since, as Dr. Bergqvist and Ms. Leitner try to pin down the right combination of doses.
Nora typically feels best in the brief period immediately after a change in treatment, but the improvement is always fleeting.
“When we make a change to the VNS settings, she is fabulous for about two to four hours — really alert and awake and bright and on target, all there,” Ms. Leitner said. “And when we introduce a new drug, or when we change the dosing on a drug, she’ll go seizure-free for about two weeks. And then it’s like the brain finds a way of getting around the drug.”
So far, the new trio of medications has offered Nora a better level of control than almost any other treatment that the Leitners have tried over the years. In addition, last fall Nora went off the ketogenic diet and onto a less restrictive low-glycemic-index diet, freeing the Leitners to go to restaurants and travel as a family.
In the midst of all of this, Nora is having as typical a 13-year-old life as she can. She loves to swim and has taken gymnastics, piano lessons, tae kwon do, and hip-hop dance classes. Her bedroom brims with books, dolls and stuffed animals, and she eagerly shows off her huge repertoire of knock-knock jokes. 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.”
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.”
