Increased propensity

Increased propensity

When Gail Hess was 57 years old, she found it hard to walk. Her right leg dragged whenever she tried it.
She also began to stutter when she spoke. Swallowing became a chore. And her hands trembled.
After struggling with these symptoms for some time, Hess finally went to see a neurologist, who diagnosed her with Parkinson’s disease.
“I used to exercise a lot, and eat healthy, but my whole body was shutting down,” she said. “I was working; I had a great job. Things were going well. The day I was diagnosed was the worst day of my life.”
Now, nine years later, while Hess is still living with the disease, she describes her condition as “stable” — a result of a regime that includes both medicine and exercise. She still has “bad days,” though, when she cannot move her legs at all, and needs help getting out of a chair.
On those days, Hess describes herself as “dead weight.”
April is Parkinson’s Awareness Month, and the Parkinson Foundation of Western Pennsylvania is working to get the word out.
The disease is of particular concern to Jews of Ashkenazi descent, who are four times more likely to be diagnosed with PD than is the general population.
A specific mutation in a single gene is a major cause of PD among Ashkenazi.
“The LRRK2 gene occurs more commonly in the Ashkenazi and North African Berber populations,” said Dr. Susan Baser, PD specialist at the Spasticity and Movement Disorder Center at Allegheny General Hospital, and a member of the board of the Parkinson Foundation of Western Pennsylvania. “For sporadic Parkinson’s, when there is no family history, if you are of Ashkenazi background, you are more likely to get the gene, and then more likely to get Parkinson’s disease, although you won’t necessarily get it.”
Another reason that Ashkenazis have an increased propensity for PD, Baser said, is the prevalence of Gaucher’s disease in that population; having the gene for Gaucher’s disease predisposes one to get PD.
Although there are genetic indicators for PD, there is not yet a recommendation for Ashkenazis to undergo genetic screening for the disease, according to Baser, because there are not yet treatment plans for patients found to have the gene mutation.
Nearly 1 million Americans are living with PD, including about 10,000 people in western Pennsylvania.
“It is a hotbed here,” Baser said, because of both the high percentage of senior citizens and because of the ethnic distribution.
The cause of Parkinson’s is not known and there is presently no cure, but research is being done to develop ways to detect the disease in patients before they become symptomatic of motor loss, Baser said.
Symptoms that occur before the onset of motor loss include constipation, the loss of the sense of smell, and REM behavior disorder. If it can be determined that people with those symptoms have PD, it is possible that certain drug treatments can delay the progression of the disease.
Although there is currently no cure for PD, several treatments now in development may produce an “explosion” of new therapies within the next five years, Baser said.
While infusing stem cells into the blood of patients with PD — research currently conducted in Germany — has not proved to be helpful, according to Baser, inserted into a patient’s brain, the treatment is “is much more promising.”
Additionally, three new classes of medicine are currently in trial.
While a cure has not yet been developed, exercise and emotional support can go a long way to help those who are suffering with the disease.
The Parkinson Foundation of Western Pennsylvania provides exercise and wellness programs, education, information, referral, and support, and also funds for Parkinson’s disease research.
“We promote 22 different support groups each month,” said Deborah Popkin Rudoy, director of marketing and communications for the Parkinson Foundation of Western Pennsylvania. “We also have five different sites for wellness programs.”
Ernie Pearl, 82, who was diagnosed with PD two years ago, is taking advantage of the services. He goes to an exercise class in the East End, and also attends a support group, which he says is helping him cope with the disease.
“The interaction is very helpful,” he said. “I have trouble with balance, but I haven’t fallen yet. I’m still working parttime. I’m exercising three or four times a week. Things seem to be going OK.”
For information on local resources for PD patients, contact the Parkinson Foundation of Western Pennsylvania at or (412) 365-2086.

(Toby Tabachnick can be reached at

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