Patients in the Spotlight: Kamri Beagell
Family’s Battle with Dystonia Presents Triumphs and Tribulations
In October 2007, Casey Beagell noticed that her 7-year-old daughter, Kamri, was having trouble keeping her arm bent when writing. “Kamri’s arm kept straightening on its own,” Casey said.
Casey knew exactly what this meant. Casey, her mother Chrys and her sisters Cory and Kelly, have mild forms of dystonia, a neurological disease that can be passed down genetically. Casey already knew a lot about the doctor she was going to see too, since her 14-year-old nephew Riley Segrue had been seeing Jonathan Mink, M.D., Ph.D., professor of neurology and pediatrics at Golisano Children’s Hospital at the University of Rochester Medical Center, for about five years. What Casey didn’t know was how quickly the disorder would rob Kamri’s ability to walk, eat and even sleep.
Dystonia had manifested itself very subtly 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.
Over time, five of the six children the three sisters had have been diagnosed with dystonia, though Kamri and Riley have had far more disabling conditions than their siblings and cousins. As was the case with Riley, Kamri’s condition grew to be very painful with continuous muscle spasms and cramps, but the disorder also progressed at an alarmingly rapid rate. Within six months, Kamri had minimal control over her body.
“Kamri went from having a mild case to not being able to walk, sit, eat or use the bathroom over the course of months,” explained Casey. “Kamri was never comfortable because she couldn’t adjust her body to sit or lie down. We would have to wait for hours at night until her body had spasmed enough to get into a horizontal position where she could lie comfortably enough to go to sleep. When she slept, the spasms completely went away, but the second she woke up, they started all over again.”
Since Casey and her sisters live in Binghamton, which is three hours from Golisano Children’s Hospital, Casey frequently communicated with Mink via email for advice and comfort. “Dr. Mink was absolutely amazing through all of this. There were times I’d email him at 3 a.m. and he would email me back at 5 a.m,” said Casey. “He had all the answers. I really couldn’t have gotten through this without him.”
The Beagell and Segrue families have DYT1, which is 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 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. Although Riley’s case hadn’t developed as rapidly as Kamri’s, it was very painful and difficult to deal with. Unlike Kamri, Riley’s mouth and face were never affected by the disorder, but his body flailed, he couldn’t walk and his head would involuntarily rotate. For two years prior to the DBS surgery, Riley had to use a scooter to get around.
Riley had his surgery at Mount Sinai a month after Kamri was diagnosed, in Nov. 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, a technology that involves remotely reading information from the devices without needing to physically remove them from under the skin. Using a magnetic wand, through telemetry, 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.
Telemetry requires experience and an extensive understanding of the disorder, both of which Mink has in spades. Mink developed and ran the movement disorder surgery program at Washington University in the mid- to late-1990s, so he 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 continues to participate 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.
Four months after Mink most recently made changes to Riley’s settings, Riley’s mother reported that he was still continuing to improve. Riley still has the disorder and has continued to have complications due to infections, but DBS has been effective for him. This year, Riley entered his sophomore year of high school without needing his scooter for the first time in two years.
Kamri’s mother said she is 99 percent better. As was the case with Riley, it took a little time to get the settings right, but around March, Kamri starting gaining back control over her body.
“Kamri’s mom would send me cell phone videos of Kamri as she improved. First it was a video of picking a rock out of the river, then she was going down the slip and slide and now she doesn’t bother sending videos anymore, because there’s really no room for improvement. Kamri is essentially dystonia-free,” Mink said.
Despite the huge road blocks Kamri faced, she never missed school because of her disorder. “She was very determined to be there,” Casey said.
Kamri’s mom is happy to report that as of December 15, Kamri will be completely off her medications, which will improve her ability to excel in school.
“It’s almost a blessing that Kamri got so bad so quickly,” said Casey, “because now it’s over and done with.” Mink and the family are hopeful that once Riley’s infection has healed, he won’t need to have the devices removed again and the settings readjusted.
Through it all, the family has had the same pediatric neurologist, a nationally known expert in dystonia, Mink, to turn to with questions and concerns. In addition to Kamri and Riley, three of the cousins, Ramsey, Reardon and Shae, all go to Mink, who monitors and treats their symptoms. All three have milder cases of dystonia, which have remained under control with small doses of medication.
Kamri just visits Mink two times a year now for check-ups. Casey said the last time Mink saw Kamri, he looked elated by her progress and gave her a huge hug. “Dr. Mink definitely cares about us and about our children,” Casey said.
“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.
Mink continues to remain in close contact with the family. “We’re not supposed to have favorite patients, but Kamri and Riley are right at the top,” said Mink. “Their resiliency and optimism are truly inspiring.”