Timothy Froio has spent his life plagued by sudden, unwanted jerky movements.
“As a baby, he’d drift off to sleep in my arms and then jump, as if he felt like he was falling,” says his mother, Cheralyn. “He would jump so much that his body would stiffen.”
At age 2, putting together Legos, Tim struggled with violent tic-like movements in his upper torso, arms, legs, neck and head. “He’d jerk and the Legos would come apart and go all over,” says Cheralyn.
The same thing happened with his beverages: they’d spill in his face and all over. Unable to control his movements, he once jabbed himself in the face with a beef teriyaki skewer. His cups had to have lids, and he couldn’t button his buttons or tie his shoes. Cheralyn had to hold him down to cut his nails.
Kids weren’t kind to Timothy, who is now 21 and also has autism spectrum disorder (ASD). Bullies would punch him to make his movements come out. He became very anxious: after the 9/11 attacks, he stopped eating for a week, thinking his food had been poisoned by terrorists.
Yet, against all odds, Timothy is also an artist. By bracing his non-drawing hand against his face, he calms the movements enough to create clean, highly detailed drawings, as shown in this video.
“When he had bad anxiety, I would get him to sit down and draw,” says Cheralyn. “He’s always been very interested in World War II planes, tanks and loves to draws the insides of them — motors, engines, cockpits — crazy stuff.”
Calming the motion
Cheralyn looked for 17 years to find out what was causing her son’s movements, which were gradually getting worse. An array of neurologists and neuropsychologists couldn’t find an explanation, though some thought the movements represented seizures. “With his autism and anxiety, the movements were almost secondary,” says Cheralyn. “People were focused more on the ASD.”
Finally, someone suggested Timothy see Dr. Jeff Waugh at Boston Children’s Hospital. Waugh, a neurologist specializing in movement disorders, did a full workup, including genetic testing. He diagnosed Timothy with myoclonus dystonia, caused by an abnormality in a gene called DTY11. (Despite the name, Tim had myoclonus — quick, sudden, involuntary muscle jerks — but not the twisting, contorted muscle movements of dystonia.)
Waugh prescribed medications to try to control the movements, but they didn’t provide much benefit. Moreover, they had side effects: increased anxiety, severe depression, anger issues.
“We were getting calls from school about Tim’s behaviors,” says Cheralyn. “It’s like trial and error with the medicines, and it wasn’t something I was willing to keep exposing him to.”
Deep brain simulation
Meanwhile, a new technique known as deep brain stimulation (DBS) was becoming available. Used for decades to treat Parkinson’s disease, it had also showed good results in a small
number of patients with myoclonus caused by DTY11 mutations. Waugh thought Timothy might be a good candidate and broached it with the Froios.
The family also met with neurosurgeon Dr. Scellig Stone, director of the Movement Disorder Program, who would perform the necessary operation. DBS isn’t a trivial treatment — it involves lengthy surgery to implant electrodes deep inside the brain, together with a flip-phone-sized stimulator device implanted in the chest.
The operation has risks, but if it worked, it could potentially be life-changing.
“Tim’s level of disability was a key consideration,” says Waugh. “It was really impairing his life choices.”
Cheralyn agreed. “With this movement disorder, he wouldn’t be able to live alone,” she says. “I truly trusted Dr. Waugh. He’s conservative, he thinks things through, and I knew he had Timothy’s best interests in mind completely.”
But she ultimately saw the decision as Tim’s. “He’s 21, a high-functioning autistic, and this is a serious operation. I told him, ‘this is a big deal, it’s brain surgery, but it could help.’”
“It makes me nervous, but I think I want to give it a try,” Tim told her.
The water test
Before the surgery, Tim was videotaped doing a “pour test,” in which he tried to transfer water back and forth between two cups. The amount spilled was a measure of his disability. Water splashed all over even before the first pour. “It was a painful video to watch,” says Waugh. “You can see him trying to brace himself so he wouldn’t jerk.”
Stone took detailed MRI images of Timothy’s brain and cerebral blood vessels to help him plan a safe path for surgery. His target: a structure deep inside the brain called the globus pallidus interna (GPI) that helps regulate involuntary movement.
On Aug. 4, in a 12-hour operation, Stone carefully implanted a strip of electrodes on either side of this structure, guided by live, high-resolution MRI imaging. Each electrode had four contact points where stimulation would be applied.
“These areas are close to a number of critical points that we needed to avoid,” says Stone. ”If an electrode is not in the right place, Timothy could experience trouble seeing, moving or feeling the opposite side of his body.”
The team also implanted a neurostimulator in Timothy’s chest, together with the connecting wires. Two days later, Tim went home to heal.
A month later, on Sept. 2, Waugh and Stone turned on the neurostimulator for the first time, applying a small device to his chest.
“We turn on each contact point one at a time and slowly ramp up the voltage,” explains Waugh. “When we find the areas where stimulation is best tolerated, we see how high we can push the stimulation before there are side effects. It’s like mapping out a ‘do not fly’ zone.”
In Tim’s case, two or three of the eight contacts caused side effects when turned on — slurred speech, twitching lip, facial numbness. One left-sided contact caused the whole right side of Tim’s face and neck to flush bright red, so Waugh pulled back.
At home after the visit, things had clearly changed. “I noticed an immediate difference — there was less of a movement,” Tim says. “I could drink from a cup without a straw.”
On a repeat water test, he did 10 pours before spilling, holding a hand to his mouth to stabilize his neck, as you can see on this video.
On Oct. 7, Waugh increased the electricity slightly in two of the contacts. Tim will return for another adjustment on Nov. 18 and will continue to have adjustments as needed.
“It can take one to two years to really find the best combination,” Waugh says. “Tim is among the fastest responders I’ve had, and if I made no more changes, he would probably get a little better over time. It takes time for the brain to start responding to the stimulation.”
It’s only partially understood how DBS leads to improvement in movement disorders. As neurologists gain more experience with DBS, they may get a better understanding of how these deep brain areas work and how the stimulation provides benefit.
The Froios feel they made the right decision. In drawing, Tim’s hand is steadier. “I’m doing a lot of things easier,” he says.
“He still has the movements, but they’re not even half as strong — he’s no longer flinging stuff all over the place,” says Cheralyn. “He doesn’t get frustrated as much anymore.”
Learn more about the Boston Children’s Deep Brain Stimulation program.