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The Case of the Mysterious Symptoms

You Be The Doctor
Story Photo

Monica Schulman, a 37-year-old teacher and mother of four, began experiencing a series of strange symptoms a few years ago.

“I noticed I was curling my left toes under when I was standing in the bathroom brushing my teeth,” says Schulman (above, with family).

Then, on a trip to New York City to visit her sister, who had been diagnosed with breast cancer, she noticed something strange when they were walking together. “My left hand was not swaying,” Schulman says. “I thought maybe it was stiff or that I did something to it. It just didn’t want to move.” She also noticed a tremor in the same hand, which sometimes felt weak.

After Googling her symptoms she told her family she thought she might have Parkinson’s disease.

“They thought I was crazy,” she says. “No one in my family had it, I was too young...” She hoped they were right. But her symptoms persisted so she came to Emory to see neurologist Stewart Factor, director of the movement disorders program.

Factor says there was no question that Schulman had parkinsonism—tremor, slow movement, muscle stiffness, and other movement abnormalities.

“But at her age, there are other causes to be considered, including drug-induced parkinsonism and a rare metabolic disorder called Wilson’s disease,” he says. “We performed imaging and did some blood work.”  

The scan showed that she had some dopamine loss on the right side of her brain.

Schulman had a DaTSCAN, a nuclear imaging test that looks at brain chemistry—specifically dopamine cells, the loss of which can be an indicator of Parkinson’s disease.

The scan showed that she had some dopamine loss on the right side of her brain, which controls the left side of her body where her symptoms were.

What, careful reader, do you think Factor’s diagnosis was?

Young onset Parkinson’s disease.

People under 40 make up about 15 percent of all Parkinson’s cases. “We call this young onset Parkinson’s, while under the age of 20 is juvenile onset,” Factor says. “That’s much less common. The youngest person I’ve personally seen with Parkinson’s was 18.”

Genetic causes of Parkinson’s disease are more common in younger onset cases.  Schulman’s genetic tests revealed a mutated LRRK2 gene, one of the most prominent Parkinson’s-related genes. She also discovered a distant uncle who had had Parkinson’s disease late in life.

“Well over 20 genes impact Parkinson’s,” Factor says. “Five are causative—the mutation causes the disease—whereas the others just impact risk.”

Between 1 percent and 3 percent of all people with Parkinson’s in the United States have the LRRK2 mutation. It’s more common among certain ethnicities, such as Ashkenazi Jews and North African Berbers.   

Schulman tried different medications: amantadine, which made her feel sick, then Sinemet (carbidopa-levodopa), which is converted into dopamine in the brain and is the cornerstone of Parkinson’s therapy.

Now 40, she quit teaching to devote more time to her health and her family. Her husband and children have been hugely supportive, she says. “My kids are 4 to 12, so we have a lot going on constantly. Fatigue is a part of the disease. But they know mommy has Parkinson’s—my oldest even did a research project about it for school.”

Shulman aims to work out at the gym, practice yoga, or do physical therapy daily. “Staying active and being surrounded by positivity has helped for sure,” she says.

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