Finding Relief from Dystonia: Paul’s Story

Ten years ago, Paul Horrigan was living his best life. A lifelong athlete, he stayed healthy in middle age by running and biking. He was the proud dad of two daughters and devoted husband to his wife, Lynn. But back pain was starting to slow him down.

“I’ve run eight marathons in my lifetime,” said Paul. “But all of the running eventually led to a lot of pain in my back and my legs. I got to the point where I could barely walk. Injections didn’t help, so I had surgery.”

Paul’s back pain marked the beginning of a seven-year journey. He went from a vibrant, active lifestyle to relying on a wheelchair, all without a clear explanation for his symptoms.

After trying countless treatments with no relief, Paul was eventually diagnosed with dystonia, a neurological movement disorder, by an integrated care team at Mass General Brigham. Lasting relief finally came through deep brain stimulation (DBS), a procedure that involves implanting a device to deliver electrical stimulation to the brain to regulate its activity.

Today, he’s back to walking, exercising, and living a full life, thanks to the perseverance of his care team and his own determination to keep going.

Surgery leads to dystonia diagnosis

Paul’s first surgery, performed outside of Mass General Brigham, fused the L4 and S1 vertebrae in his lower back. He looked forward to getting back to his active lifestyle.

But six weeks later, everything changed. Paul started experiencing severe back spasms, which were so intense that he needed to use a wheelchair to get around. Unwilling to accept a life of pain and limited mobility, Paul looked for help.

“I pushed to find something that would help me walk again, because I like to exercise. That was part of the drive for me to keep going,” he said.

That determination led him to Gregory Brick, MD, an orthopedic surgeon at Brigham and Women’s Hospital. An MRI revealed the screws in Paul’s S1 vertebra had failed, requiring a revision surgery to fix. The second surgery went well, but the debilitating spasms continued.

That’s when the Mass General Brigham team confirmed Paul’s diagnosis of dystonia.

Dystonia is a movement disorder characterized by involuntary muscle contractions that can cause twisting and repetitive movements. In addition to being disruptive, it can be very painful.

Dealing with a stubborn condition

One treatment option for dystonia is Botox injections. It was one of the first treatments Paul tried to manage his dystonia. But in his case, his dystonia only intensified—to the extent that he ended up at Massachusetts General Hospital over the Christmas holiday in 2015.

Nutan Sharma, MD, PhD, was the neurologist on call that day. “He had uncontrolled muscle contractions —so much so that he could barely sit up and he certainly could not stand to walk,” she said. “I tried to treat him symptomatically with medicine to reduce the spasms and help him get home for the holidays. Then, I saw him in clinic.”

That first meeting at Mass General was the beginning of a long relationship between Dr. Sharma and Paul. Under Dr. Sharma’s care, Paul underwent testing for neurodegenerative disease and imaging to rule out damage as the cause of the spasms.

The cause of his dystonia remained a mystery, so Dr. Sharma focused on treating his symptoms. Over the next few years, they tried everything, including at least 13 different medications, acupuncture, pool therapy, music therapy, massage, and walking on an anti-gravity treadmill. None of it worked.

During one clinic visit, Dr. Sharma recruited Michael Hayes, MD, an experienced neurologist at Brigham and Women’s, for a second opinion.

This was 2021, nearly seven years since Paul’s symptoms began.

“I did neurophysiologic studies to look at what was happening during the episodes to determine

if the muscle were firing synchronously or were they firing in a way that was not synchronous,” said Hayes. “What we found was that all the muscles fired simultaneously and in short bursts. It was somewhat like myoclonus in that he was getting repeating bursts that put him in a dystonic posture.”

They recommended another round of Botox injections. “Botox works by weakening overactive muscles, forcing them to relax and react less to abnormal stimulation. But that really didn’t help Paul enough to have a significant impact.”

Deep brain stimulation provides long-term relief

With few options left, Paul’s doctors recommended one last treatment: deep brain stimulation (DBS).

Rather than weaken the overactive muscles that are reacting to abnormal messaging, DBS interrupts the messaging at their source before it ever reaches the muscles. DBS involves implanting a pacemaker-like device in the chest that sends electrical impulses to specific areas of the brain to regulate abnormal activity.

“In a case like Paul’s, we believe the brain cells are no longer regulated, and they are firing uncontrollably,” says Dr. Sharma. “It’s like fireworks going off in your brain. DBS creates an electric field in the brain that calms that activity down.”

DBS is often considered a last resort, which is why it was not an option for Paul earlier in his journey.

“Paul’s was an unusual form of dystonia, and there wasn’t a huge body of literature when it comes to treatment options. When you consider DBS, first of all you are doing brain surgery, which we take very seriously. You’re also committing the person to a lifetime of having hardware in their brain and a battery that needs to be maintained. It’s a big commitment for the patient, and there are risks to the procedure,” said Hayes.

But for Paul, the decision was life changing. The implant procedure, performed by Rees Cosgrove, MD, chief of functional neurosurgery at Mass General Brigham, has finally provided the relief he had been seeking. Today, there are days when he forgets he even has dystonia.

Throughout his journey, Paul found strength in his integrated care team at Mass General Brigham, which included specialists from Mass General, Brigham and Women’s, and Spaulding Rehabilitation. He credits them for helping him get back on his feet.

“My sincerest appreciation and gratitude to my Mass General Brigham doctors,” said Paul. “And not to be omitted, Susan Ragon and the late Anne Esposito at Mass General, for their encouragement and tireless pursuit to enable me to live a better life.”