Possible Answer to ALS

This article discusses the work of Jeffrey Rothstein, Director of the ICTR’s Accelerated Translational Incubator Pilot (ATIP) Program

Recent developments have given researchers real optimism that advances in treatment could be on the horizon—at last.

For Michael Tsun, the first sign of trouble came late in 2012, when the Fairfax County, Virginia, resident began feeling pain in his shoulders and around his buttocks. Soon thereafter, Tsun and his physician took aim at polymyalgia rheumatica (pmr), a pain syndrome that often hits men over 50.

Tsun, then 62, started taking prednisone and methotrexate, two drugs that usually deliver PMR relief after a bit of dosage juggling and side-effect managing. But Tsun decided after six months to stop taking them. He feared that they were causing a new problem with slurred speech. Soon thereafter, his body began making too much saliva, leading to coughing fits and drooling.

Over time, his slurring problems grew worse, and he started breaking out now and again into boisterous laughter at inappropriate moments.

Tsun felt like he had seen this symptom mix before. A pulmonologist with a practice specializing in internal medicine, he had cared for perhaps half a dozen patients over the years with amyotrophic lateral sclerosis (ALS), the degenerative and deadly neurological disorder that many people know better as Lou Gehrig’s disease, after the famous baseball star who died from it in 1941.
Tsun’s ALS patients had also exhibited muscle stiffness, twitching and slurring. He now started wondering if his problems would turn out to be early steps in a frightening journey of physical decline, with leg and arm muscles growing weaker and weaker to the point of total failure, and the muscles he needed to speak, swallow and breathe following suit in short order.

“It was a very sad illness to see,” Tsun says. As a physician, all he could do was be supportive and offer palliative care.

After making this tentative self-diagnosis, Tsun retreated into a shell of denial. He did not share his worries with his primary care doctor, nor did he seek out a specialist who might confirm his suspicions once and for all.

“I was hesitant to seek help,” he says. “I knew that the prognosis was poor.”
It was Tsun’s wife, Betty, and the couple’s grown son, Matthew, an attorney, who coaxed him out of that shell. They argued that no physician could be objective when it came to a self-diagnosis like this one, and Tsun had to concede they had a point.

But when he did go see a neurologist in the spring of 2014, it turned out that his diagnosis was on the mark. Soon after that, the pulmonologist-turned-patient arrived in Baltimore to see Nicholas Maragakis, co-medical director of the ALS Clinic at Johns Hopkins.

“I was devastated,” Tsun says.

 

To continue reading, visit the Johns Hopkins Medicine website.