Dystonia Expert Helps Area Patients Thrive

Kamri Beagell

Kamri Beagell, who experienced dramatic improvements in
her condition, recently celebrated her 10th birthday.

When Casey Beagell noticed that her 7-year-old daughter, Kamri, was having trouble keeping her arm bent when writing, she knew exactly what it meant. Casey, her mother Chrys, and her sisters Cory and Kelly, have mild forms of dystonia.

Casey turned to the same expert her nephew, Riley Segrue, was seeing – Jonathan Mink, M.D., Ph.D., professor of neurology and pediatrics at Golisano Children’s Hospital at URMC.

Dystonia had manifested itself very subtly in Chrys, Casey, Cory and Kelly. Chrys and Kelly had symptoms akin to carpel tunnel syndrome. However, Casey’s nephew Riley’s symptoms were much more severe and were getting progressively worse, so Casey knew the potentially debilitating effects the disorder could have on Kamri.

The Beagell and Segrue families have DYT1, one of 20 specific genetic forms of dystonia that have been identified. Although some forms of dystonia respond well to medications, it often takes very high doses and side effects can cause substantial interference with daily functioning. Another treatment option for some patients is neurosurgical implantation of DBS (deep brain stimulation) electrodes. “Children with certain forms of dystonia, especially the type these kids have, can be dramatically responsive to DBS (deep brain stimulation) treatment,” Mink said.

DBS involves inserting wire electrodes into specific targets in the brain. The wires are run under the skin and connect to two pacemaker-like devices that are placed under the skin on both sides of the chest, near the collar bone. A wire connects each device to the brain and sends out pulses, which can correct misfirings in the brain.

Mink recommended DBS for Riley and Kamri as their symptoms worsened.

Riley

After two years of relying on a scooter for
mobility, Riley Segrue returned to high school
with a new set of “wheels” thanks to DBS
and follow-up care by Jonathan Mink, M.D.,
Ph.D.

Riley, who had been using a scooter to get around, had his surgery at Mount Sinai in November 2007. Riley battled a number of infections around the implanted devices and after each one, the family went back to New York City to have the hardware removed and then put back in.

Kamri had her surgery at Mount Sinai in July 2008. She had a few initial issues with the DBS surgery, including an infection a month after her surgery, but she recovered soon afterward.

Mink adjusted the settings on Riley’s and Kamri’s devices on a monthly basis through telemetry. Using a magnetic wand, Mink could adjust voltage, the frequency of pulses, how long the pulses lasted and the extent to which the four parts of each side of the brain the wires touched were being stimulated.

Mink has the experience and extensive understanding of dystonia needed to make telemetry successful. He developed and ran the movement disorder surgery program at Washington University and had experience with DBS from the time it began being used for essential tremor and Parkinson’s disease. More than a decade later, Mink continues to use DBS in a clinical setting for dystonia in children. He also participates in research on the mechanism by which DBS works.

DBS has the potential to produce amazing results, but sometimes the benefit accumulates over a long period of time. “DBS seems to change the plasticity of the brain, without directly interrupting its function,” Mink said.

In 2009, Riley entered his sophomore year of high school without needing his scooter for the first time in two years.

Kamri’s mother reports dramatic improvements, with Kamri recently regaining control over her body. As of December 2009, Kamri’s mom reported that Kamri is completely off her medications, improving her ability to excel in school.

“There are a lot of things neurologists can treat, but rarely can we make such severe symptoms completely go away, especially in movement disorders,” said Mink. “This really is one of the most rewarding things I’ve ever done in my career as a child neurologist,” Mink said.

For more information

Referrals:

Pediatric Neurology (585) 275-2808

Information/assistance: 

Arianna Joseph-Parris
Phone: (585) 507-5480

Strong Consult and Transfer Center

Toll-free (800) 499-9298
(585) 275-4999