A chance for an active life

It started in her fingers. When 10-year-old Elisse Lorenc tried to write, her right hand stiffened, her fingers refusing to wrap around the pencil. So Elisse just wedged her pencil between her fingers and plowed through her homework.

"It was very frustrating," says Elisse, now 17 and a senior at Barrington High School. "I had absolutely no control over my hand whatsoever. It would just twist and stiffen up."

Elisse taught herself to write left-handed. But that was just the first hurdle.

Soon Elisse couldn't bring a spoon to her mouth without involuntary spasms knocking food into her lap. Fastening buttons became impossible.

Unable to control her arms enough to crawl through the water, Elisse gave up swimming. Her running stride turned into an awkward hop when the disorder affected her feet.

Inexorably, a neurological disorder called dystonia was transforming Elisse's young life. The disorder causes muscles to contract and spasm involuntarily, forcing the body into twisted postures.

Classmates could be cruel.

"Kids definitely made fun of me a lot because of my awkward hand movements and because I would walk differently," said Elisse, who lives in North Barrington.

But Elisse was fortunate. When her hand acted up, her parents already had an inkling what was wrong.

A few years earlier, Brian and Diane Lorenc had watched Elisse's older brother, Kevin, develop the twisted, writhing movements that characterize dystonia.

So Elisse quickly got a correct diagnosis, something that often eludes people with the little-known disorder.

And while the treatments available at the time did little to ease Kevin's symptoms, Elisse would benefit from the biggest treatment breakthrough for dystonia in decades. At the age of 14, she'd have electrodes implanted in her brain.

Recognition

Kevin and Elisse Lorenc have a genetic form of dystonia that afflicts children, but there are a dozen other types. Dystonia can affect a single body area, such as the neck or hand, or be generalized through multiple muscle groups. Some adults develop dystonia after a trauma such as a car accident.

Dozens of diseases include dystonia as a major symptom. Dystonia can be totally debilitating and severely painful, or relatively mild. It afflicts an estimated 300,000 Americans, a third of whom are children.

Dystonia has gotten more attention recently; earlier this year, the independent film "Twisted" that documents three people's struggles with dystonia was aired on public television. But it still remains relatively obscure, even among physicians.

"The medical community is not well-informed about dystonia," said Janet Hieshetter, executive director of the Dystonia Medical Research Foundation, based in Chicago. "Part of our challenge is to let the general public know dystonia is not a third-world country, and to get to health-care professionals so they can recognize it and appropriately treat it."

The differing faces of the disorder make it more difficult for patients to achieve an accurate diagnosis, Hieshetter said.

"The symptoms don't always display the same, and it's the same with treatment," she said.

Many treatments attempt to silence the conflicting brain signals believed to cause the spasms that characterize dystonia.

When you want to flex your wrist, the muscles in your forearm must contract while muscles on the back of your wrist must relax. In people with dystonia, nerves fire to contract both sets of muscles at once, resulting in a writhing, twisting movement.

People with a particular form of dystonia that is responsive to dopamine can benefit from levodopa, one of the drugs used to treat Parkinson's disease. People with focal dystonia -- affecting a single area of the body -- can often be treated with Botox injections to block particular muscle contractions.

Other oral medications that affect neurotransmitters in the brain can also help some patients, but they also cause serious side effects.

In Kevin Lorenc's case, it would take more than a year and five doctors to obtain a correct diagnosis, followed by several years of trying various medications.

None worked. So at age 18, Kevin underwent a brain surgery called pallidotomy in which doctors burned portions of his brain, an attempt to reduce the signals causing his muscles to contract involuntarily.

The first pallidotomy on half his brain didn't ease his symptoms. When Kevin returned for the second half of the operation, he hemorrhaged, and surgeons halted the procedure. By this time, Kevin was relying on a walker to get around, and the surgery's failure sent him into depression, his parents said.

"He had been in gymnastics, soccer, and then all of a sudden it was gone," Diane Lorenc said.

Another chance

Ironically, it was right around the time Kevin had his pallidotomy that deep brain stimulation started gaining attention for dystonia patients.

It had already helped calm the tremors of Parkinson's patients, though their symptoms would inevitably return as brain cells continued to die.

But dystonia is not a degenerative disorder. That means the improvement can be permanent, said Dr. Leo Verhagen, a neurologist who specializes in movement disorders at Rush University Medical Center in Chicago, and the Lorencs' doctor.

"In my opinion, it's the most dramatic use of deep brain stimulation so far," Verhagen said. "As long as you fix the electrical system, it's always going to work."

In the surgery, a doctor implants a series of electrodes deep in the brain, in an area called the globus pallidus (the same area targeted by a pallidotomy). Patients are usually awake during parts of the 12- or 15-hour procedure to ensure the placement is correct.

Wires from the electrodes are threaded under the skin to two pulse generators implanted in the chest. Once the swelling from surgery goes down, the generators are activated and begin sending a series of electrical pulses to the brain.

The pulses appear to interrupt some of the faulty signals sent out by the brain. It can take months for a patient to achieve the correct settings and begin to see improvement.

Because Kevin's second surgery was not completed, he was a candidate for deep brain stimulation on part of his brain. He had the surgery in 2003, at age 21, and saw partial improvement. Then he persuaded his little sister it was her best option, too.

Elisse was scheduled for surgery on June 6, 2004, on what should have been her graduation from eighth grade.

"I was a nervous wreck," she said. "They're drilling two holes in your head and putting wires in your brain. Something might go wrong. But it had taken away so much from me, so I thought I'd take a chance."

It wasn't an easy decision for her parents. Diane Lorenc had pleaded with Kevin not to have the surgery, especially after the disastrous hemorrhage. She knew deep brain stimulation had a chance of helping her daughter, but she was terrified of the risks.

"I know it's got to be their decision as well, because it's their life," Diane Lorenc said. "If they have the courage to go through with it, we have to support it."

Return to normal

Dr. Ron Alterman, a neurosurgeon at Mount Sinai Hospital in New York, has watched dozens of parents come to the same conclusion. He's one of the most active surgeons in the field, having performed 62 deep brain stimulation surgeries for dystonia and hundreds for other disorders.

"It's a very close-knit community, the families know each other, they see the other kids who had the surgery and they see what dystonia is doing to their child's life," he said. "I've had few families hesitate. It is truly an opportunity for many of these kids to lead a more normal life."

Deep brain stimulation has been used for many types of dystonia, but it appears to be most successful in patients with genetic, generalized dystonia, the type that the Lorenc children have, Alterman said.

"In the children with the DYT-1 gene mutation, you can take a child who was wheelchair-bound and make them virtually normal in a period of months," Alterman said.

The younger the patient, the more effective the surgery appears to be, Alterman said. The youngest so far was 7, which Alterman believes is probably the youngest that could be safely operated on. If the procedure doesn't work, it can be reversed, unlike pallidotomy.

The surgery does have risks, including a possibility of bleeding in the brain and infection. And while preliminary results are positive, doctors don't have much long-term data on deep brain stimulation.

The Dystonia Medical Research Foundation is pouring money into a search for additional treatments. In 2006, it launched the Cure Dystonia Initiative with a $1 million gift.

"Whereas other research is looking into the mechanism, the causes of dystonia, this is treating the symptoms until we can find a cure," Hieshetter said. "It's a pretty modest start right now, but we're in the game."

The foundation also aided in the Lorenc family's recovery. Friends that Kevin met at one of the foundation's conferences helped draw him out of his depression and continue to support him as he struggles with symptoms, Brian Lorenc said.

"The foundation was really invaluable to us to cope and understand the disorder," he said. "We had no one else we could talk to about it."

Elisse is doing well since her surgery. Within a year of the operation, she regained control of her hand and other muscles. She started running again, joined her school's cross country team and now logs roughly 45 miles a week.

She's also made new friends.

"People can't really tell I have dystonia," she said. "They say, 'What's that? I can't see anything wrong with you.'

"I was getting sick of people making fun of me spasming. Now people look at me like a normal person. They don't see anything wrong with me."

Elisse no longer needs any medications for her dystonia, but she will have to monitor her disorder. Earlier this year, she had surgery to replace her battery packs.

Rather than surgeries and symptoms, Elisse's senior year of high school will focus on college applications. She plans to major in nutrition, marketing and international business, with a minor in exercise science, to prepare her for a career tackling the international obesity epidemic.

Right now Elisse is trying to decide on a school in the Big Ten. She wants to go somewhere it doesn't get too cold.

"I guarantee wherever she is, she'll be running," said her mother.