Michael Sharp’s apartment is a short walk from the beach, but Michael isn’t much of a beachgoer.
He looks the type: laid-back, low-key, introspective, hair about shoulder length. But the self-described “kind of a geek” would rather play video games—his favorite pastime—than surf or bask in the sun.
Besides, Michael is still self-conscious about the scars on his chest where a battery-powered generator resides—scars he didn’t have six years ago. But then, before his surgery in 2005, he was confined to a bed or wheelchair with his body twisted into painful, uncontrollable contortions.
Unbeknownst to his parents and his doctor, when Michael was born on March 8, 1989, one of his genes wasn’t perfect. There were no outward signs or symptoms, and he and his little sister, Katherine, ran and jumped and grew just like the other kids in his South Florida neighborhood. He played ice hockey and swam on a team.
And then, when he was 11, his right hand started to curl. His teachers were the first to notice that his penmanship was turning into scrawl. His wrist had become fixed in a bent position, pushing his fingertips in and under his hand when writing, aiming the pencil in the wrong direction, at a backward slant.
“I remember my mom telling me I was writing strangely,” Michael recalls. “I would just write crooked. I don’t know how to describe it.”
His mother, Victoria, bought a wrist support, but it was no match for the force seizing Michael’s forearm. As she realized that no amount of physical or mental effort could help her son control his arm and hand, Victoria made appointments with a pediatrician and a neurologist in Ft. Lauderdale. Michael was diagnosed with dystonia, which causes muscles to contract involuntarily, forcing affected body parts into awkward and often painful positions.
Several types of dystonia exist. Michael’s was triggered by that tiny flaw in his genetic code.
The course of Michael’s disease was unpredictable, unmanageable, and unimaginable. One day the muscles yanked his right arm up to his chest, gripping it so tightly it could not be pried loose. Another time, a leg and foot suddenly turned inward. This, his mother remembers, occurred a couple of years after the initial onset—and she soon understood that, up until then, the disease had only been toying with them.
“His left leg started to act strangely,” Victoria explains. “And from there it was all really, really quick, with the left arm, then the right leg, then his stomach—and all of it causing so much pain. Every time a new body part was affected, it meant horrible, horrible pain; my son had to be on pain pills day and night.”
The drugs brought little relief. And they blunted Michael’s concentration and blurred his memories of those years. Today, fragments of the past stand out in the fog.
“I don’t remember much,” he says. “I remember there was one guy who kept talking to me in school. I couldn’t remember his name from one day to the next. I kept calling him Noah, but his name wasn’t Noah. And I remember my mom trying to teach me math, but I couldn’t grasp the simplest problem.”
Over a five-year period, dystonia claimed more and more of Michael’s body until he could do little more than lie curled in bed or sit bent in a wheelchair. “He couldn’t do anything for himself anymore,” Victoria says. “I had to wash him. I had to brush his teeth. I had to feed him. Everything.”
Recently divorced when dystonia struck her son, Victoria gave up her physical therapy business to become Michael’s hands and feet and to embark on a search for someone or something that could relieve his agony.
“We went to France, we went to Brazil, we went to Slovakia—we went everywhere to try to figure something out,” Michael says.
Then they traveled to Chicago and attended a symposium for children with dystonia. Victoria heard parents talk about kids freed from wheelchairs, leading normal lives after being treated at The Mount Sinai Medical Center in New York City by neurologist Michele Tagliati, MD—who now heads the Cedars-Sinai Movement Disorders Program—and neurosurgeon Ron L. Alterman, MD. Victoria already had an appointment at another hospital in New York, but now she wanted to see Dr. Tagliati.
By the time Victoria found her glimmer of hope in Dr. Tagliati, Michael was struggling to stay in school. Teachers and friends volunteered to help him keep up. They would come over to his house and tutor him—the student bedridden and racked in spasms, the mother taking notes. Victoria says playing video games mitigated her son’s pain, occupied his mind, whiled away the hours, months, and years—and kept her sane.
Dr. Tagliati earned his medical degree from the University of Rome in his native Italy. He then decided to come to New York in 1993, where he redid his specialty training—an internship and another neurology residency at Mount Sinai. Deep brain stimulation (DBS)—the therapy that Dr. Tagliati is known around the world for championing— was a new, experimental procedure when he received a movement disorders fellowship at Beth Israel Medical Center. There he met Dr. Alterman and the two began working together to better understand the technology.
“We had an advanced therapy, something new and absolutely experimental,” says Dr. Tagliati. “I was fortunate to be there because I was experiencing it firsthand, seeing how well deep brain stimulation could work if you did it right. Here I was in 1999 and 2000, working with a technology that was only used in a few places in the country. So when the FDA approved deep brain stimulation for Parkinson’s disease in 2002 and everybody scrambled to find experts, Dr. Alterman and I already had some hundred cases behind us.”
Dr. Tagliati worked at Beth Israel for five years, then taught at the Albert Einstein College of Medicine before returning in 2004 to Mount Sinai, where he and Dr. Alterman established one of the world’s most respected centers for movement disorders.
One of their first patients was a boy from Florida who was desperate for help.
“Virtually every part of Michael’s body, especially his torso, was severely afflicted with strong spasms,” Dr. Tagliati recalls. “He was bent forward to the point that he couldn’t easily stand up or even sit. His best position was lying down. He could not write. He was able to walk, but his foot would push to one side.”
Some types of dystonia are related to known genetic defects, others appear not to be, and some are likely caused by genetic disorders not yet known. The DYT1 gene mutation responsible for Michael’s dystonia was discovered only 14 years ago. According to the Dystonia Medical Research Foundation, less than 1 percent of the overall population carries this mutation, but the frequency is believed to be three to five times higher among those who, like Michael, are of Ashkenazi Jewish descent. His parents immigrated to the United States from Russia in 1980. But as Dr. Tagliati points out, while heredity increases the risk, only 30 percent of people who carry the gene mutation develop dystonia.
In two operations in February 2005, just before Michael’s 16th birthday on March 8—and five years after his illegible handwriting foreshadowed the torture he would endure—Dr. Alterman implanted two electrodes in Michael’s brain and connected them to a generator inserted under the skin in his chest. Dr. Tagliati, working with a handheld remote device, programmed the stimulator and fine-tuned the settings over the following months.
“For patients who have early-onset dystonia, like Michael, deep brain stimulation is not just a good therapy, it can be miraculous—and I use that term without reservation,” Dr. Tagliati says. “Michael was one of the most severe cases we had ever seen, but he was also among those who responded most dramatically to treatment.” Three months after the surgery, Dr. Tagliati went to Miami and visited Michael. His back was now straight, and he could walk and write. Back when Michael was bedridden, writhing in pain, Victoria used to wish that it was all just a bad dream, that one day she would wake up and everything would be normal. “After the surgery, Michael very quickly got to the point where you couldn’t even tell anything had ever happened to him,” she says. “No pills. Nothing. Absolutely like nothing had ever been wrong. Like it really was just a bad dream.”
Michael went back to high school full time, matching his best friend for top grades in his senior year and serving as co-valedictorian.
In 2010, when Dr. Tagliati was invited to build a new program in Southern California, he found an expert surgical partner at Cedars-Sinai. Neurosurgeon Adam N. Mamelak, MD, had performed deep brain procedures even before DBS was approved by the FDA as a treatment for Parkinson’s disease.
“Deep brain stimulation works best when electrode placement is ideal and programming is optimal, so having an experienced neurosurgeon and neurologist working together as a team is a win-win for patients,” says Dr. Mamelak, surgical director of the Movement Disorders and Epilepsy Program at Cedars-Sinai.
Doctors know that sending electrical impulses to nerve cells in the brain can calm out-of-control muscle contractions. However, they don’t know exactly how it works, or why it works for some patients and not others, and to varying degrees. Dr. Tagliati says some patients who could be helped by deep brain stimulation do not obtain relief because doctors may give up on the treatment too soon. It’s not enough to simply switch on the power. Determining the optimal placement of the electrodes during surgery and adjusting the strength and wave frequency of the signal take time and experience.
“When we get the electrode in position, if the patient is awake, we can stimulate the electrode and ask for feedback,” says Dr. Mamelak. “For example, if the electrode is placed a little too deep, it may affect the optic tract and the patient might see flashing lights. A millimeter too far inside might cause muscle spasms. We can use nerve-signal recordings and patient feedback to position the electrode where it will provide the most benefit with the least side effects.”
Dr. Tagliati has dedicated much of his career to advancing this largely trial-and-error process to the point of scientific, reproducible precision, and to define and teach how stimulation should be applied. But for all his successes, work remains to be done. “Through the academic neurology program we’re creating at Cedars-Sinai, I can combine my clinical perspective with translational research to gain a better understanding of what DBS actually does,” Dr. Tagliati says. “We know that stimulation helps many patients, but we still have a lot to learn about how and why.”
Six years have passed since the electrodes implanted in Michael’s brain were powered up and his dystonia symptoms began to ebb. When Dr. Tagliati moved from Mount Sinai in New York to Cedars-Sinai, Victoria simply moved Michael’s follow-up care to the West Coast, and she often urges other parents to do the same. “Dr. Tagliati is a wonderful human being, so warm and compassionate,” she says. “You can see he has a big heart. He’s not just doing his job. This is his life and his passion.”
Now 22, Michael graduated from Ft. Lauderdale’s Nova Southeastern University in May with a degree in finance. He enrolled in Nova’s law school in August. He tries to not think about the past and the harrowing years before DBS. “If I had to go back, I don’t think I could take it,” he says. “It’s frightening. It’s a living hell.”
Says Dr. Tagliati: “What is exceptional about Michael is that he improved virtually 100 percent after surgery. If you were to see him walking down the street, you wouldn’t guess there had ever been anything wrong with him.”