FREDERICK, Md. (AP) - Jim Spencer knows how important it is to do research into disorders and diseases.
Spencer, of Frederick, is a scientist who works in biochemical research at Life Technologies in Frederick. So when he was diagnosed with primary lateral sclerosis more than a decade ago, he learned all he could about the disorder.
PLS is so rare, only about 500 people in the United States have it. Recently, Spencer and his wife, Barbara, hosted the regional Spring Fling for people with PLS and a similar degenerative disorder, hereditary spastic paraplegia, or HSP. The Spring Fling will be an annual fundraiser for the disorders, and will take place the first weekend of May each year.
Treatment options for both are limited. Patients take medicines to combat spasticity and get physical therapy. Many use walkers, canes or wheelchairs to get around.
Scientists are looking into genetic mutations that may cause PLS, according to the Spastic Paraplegia Foundation, an organization which formed to support people with PLS and HSP. There is also research into spasticity treatment and neurological functioning. Genetic advancements have been made in HSP research.
HSP is a hereditary disorder which causes the person to lose control of the leg muscles.
PLS is not considered hereditary, but a rare, genetic form has been identified.
PLS seems to be related to amyotrophic lateral sclerosis, or Lou Gehrig's disease, except it is not as severe. ALS is also much more widely diagnosed.
Neurons typically carry signals from the brain via the spine to the body's extremities. The problem for PLS sufferers, Spencer said, is that some of the nerves on the spine die and make it harder for the arms and legs to get messages from the brain. As more nerves die, symptoms increase.
The body produces too much glutamen at the nerve junction, which then overstimulates the nerve and causes the nerve to die.
Some PLS sufferers have the problem on both sides of their bodies. Spencer has trouble with his right side.
The disease is progressive, but it progresses at different rates. Most people are in their 50s or 60s when diagnosed, but Spencer, now 54, was in his early 40s.
"It started with foot drop and has slowly progressed," he said. Spencer, his wife and their three children were on a family vacation to the Grand Canyon.
Diagnosis wasn't easy. It never is for people with PLS. It is usually done by ruling out other disorders, including multiple sclerosis and ALS. It may take a few years to rule out ALS, but that is usually done by closely watching and monitoring symptoms.
Support
Spencer wants people with PLS and HSP to know there is a group of like-minded people in the area who can offer advice and support. Spring Fling is aimed at people in Maryland, Virginia, West Virginia, Pennsylvania and Delaware who want to compare notes and socialize.
Spencer praises his own doctor, Dr. Andrea Corse, of Johns Hopkins University. Corse spoke at the Spring Fling gathering, explaining treatment and therapy options. She also outlined research findings from the latest studies.
An occupational therapist also spoke, as did a nurse, who discussed the importance of humor in dealing with these neurological disorders. Spencer said he was heartened by the upbeat attitude of those at the conference with PLS and HSP. Some of those who attended have lost the ability to speak, but still have hope. "These people value life," he said.
Life with PLS
While the diagnosis of PLS bothered Spencer initially, he doesn't let it get in his way. "I rarely think about limitations; instead, I plan around them," he said.
"I can't lift my right hand over my head," Spencer said. "It gets stiff." He must also be careful walking down steps.
"There could come a day when I'm in a wheelchair," he said. When he walks, he must swing his right leg out to get it to move. "It's like walking with a piece of wet spaghetti."
He drives by braking with his left foot. He has occasionally driven a standard shift car, but he said it's not pretty. Driving an automatic shift car is much easier, he said. "I don't think much of it," he said. "You just live with it."
Life is busy with his family. His wife is a certified nurse practitioner. A son recently graduated from Rensselaer Polytechnic Institute in New York, a daughter has earned her bachelor's degree in nursing, and his youngest daughter is in the ROTC program at Boston College.
The family still takes vacations, and was recently planning a visit to Ocean City.
Spencer occasionally rides his bike. He walks, sometimes outside and sometimes on a treadmill in his basement, where he doesn't have to worry about obstacles.
"I've got a great family," he said. "It's nice to think about other things." Spencer also mows his own grass, pushing a power mower around his lawn instead of resorting to a riding mower. "I am not a couch potato," he said.