Jess Villanueva

Jess Villanueva with his family.

Deep Brain Stimulation Provides New Hope for Dystonia

After years of medical school and residency, Jesus ("Jess") Villanueva's career as a physician was finally progressing. Unfortunately, so were the symptoms of a debilitating genetic disease called lubag, a form of dystonia.

Dystonia is a neurological movement disorder characterized by involuntary muscle contractions that force certain parts of the body into abnormal, sometimes painful spasms. Lubag is a form of dystonia that occurs in about one of every 4,000 men in the southern part of the Philippines. It may be misdiagnosed as Parkinson's disease or essential tremor.

"My uncle and two of my cousins have lubag and my brother died of the disease last year," says Villanueva. "I knew that my getting lubag was a possibility, but it was still a shock when the symptoms started to appear."

Symptoms Begin Slowly

First his writing became more unintelligible. Then he began losing facial expressions. His toes and legs began cramping. Finally, his speech was affected to the point where his patients and family could no longer understand him. He and his wife, Tess, had to face the fact that his medical practice may have come to an end.

"After 15 years of studying to be a doctor, my husband had only been able to practice for 10 years," says Tess Villanueva. "Not only were there emotional hardships, there was a financial toll, as well. It was difficult on all of us. The children were frustrated because Daddy could no longer play basketball with them or read them a book. I had to help them learn to relate to their father. At the same time, I was having to make that adjustment as well."

Deep Brain Stimulation Provides Option

The Villanuevas feared they would have to wait helplessly as the symptoms continued to worsen — until they met Virgilio Evidente, M.D., a neurologist at Mayo Clinic. Dr. Evidente is also from the Philippines and runs a clinic there to research and treat lubag. It was his theory that a new procedure called Deep Brain Stimulation (DBS) might work for Villanueva.

"We'd been highly successfully using DBS for Parkinson's and essential tremor since starting the program two years ago," says Dr. Evidente. "Dystonia, however, is a totally different disorder with a different deep brain nuclear target. Pallidal DBS had never before been used for lubag, but Jess, Tess and I felt it was worth a shot to try it. This truly felt like their last and only option."

A Miraculous Transformation

What followed was an amazing story of transformation. Prior to his surgery, Villanueva's mouth hung open in a perpetual "yawn." He couldn't talk intelligibly, walk without assistance or even feed himself.

Just two weeks later, he returned home to California and ran up the stairs to greet his family, including his three children, ages 12, 7 and 5. His children could understand him. He could eat popcorn without having Tess hold his mouth for him.

"After we got back from Arizona, Jess began calling everyone who had been praying for us," says Tess. "His friends couldn't believe he was actually the one talking to them. His family was speechless and almost in tears when we visited them. It was truly a miracle. We are all just awed and amazed at how fast we've seen changes and how different he is."

Looking to the Future

Although the results have been astounding, the Villanuevas are well aware that DBS is not a cure for lubag, but rather something to manage its symptoms. They hope to start a lubag foundation so that someday a cure can be found. In the meantime, they are enjoying their second lease on life.

Referring to his wife, Villanueva says, "I was afraid I would lose her. I think we both have learned a lot about the true definition of love and sacrifice."

Today, the family is planning for Villanueva to go back to work in some capacity. They are thinking of buying a home. In their words, "life is back."

For Dr. Evidente, he's looking to the future as well, thinking of ways DBS may help even more patients like Villanueva.

"Our multidisciplinary team is continually looking for innovative ways to improve on this technology and to produce better overall results in our patients," he says. "We've seen such amazing results here and in the lives of patients with advanced Parkinson's disease and severe essential tremor. Hopefully, we will be able to offer DBS for other movement disorders in the future."

Specifics of DBS

DBS surgery involves implanting electrodes into the brain and stimulating certain deep brain nuclei with pulse generators that help correct abnormal brain circuits. Unlike brain lesioning procedures, (burning or radiation) which are permanent, non-adjustable and irreversible, DBS does not destroy any brain structure and allows the option of future revisions or adjustments.

During DBS surgery, brain mapping is used to find the targeted nucleus by recording brain wave characteristics and observing the patient's response to stimulation. Patients are awake, under minimal sedation, so they can verbalize side effects from stimulation. Unique to Mayo Clinic, acupuncture is used to alleviate anxiety and pain during the procedure to minimize the amount of sedatives and anesthetics the patient receives. Pulse generators are placed beneath the patient's clavicle and are programmed one week following the surgery.