David Epstein went to his doctor in 1997 to find out why he was going to the bathroom so frequently and what was causing his fingers to go numb.
The Leisure World resident underwent years of doctor visits, medical tests and prescription medicines that didn’t ease the progression of his symptoms. Meanwhile, his brother in Colorado was experiencing similar problems.
Finally, in 2011, Epstein learned he had Adult Polyglucosan Body Disease (APBD).
The illness has no treatment and no cure. It is a genetic disorder that results in reduced activity of the glycogen branching enzyme, which is used to make glycogen. Glycogen is the reserved fuel stored in a person’s cell.
One in 68 Ashkenazi Jews is a carrier of at least one of the two gene mutations that are associated with this frequently misdiagnosed disease.
The carrier frequency among the general population has yet to be discovered, although it is known to be less frequent than in the Ashkenazi Jewish population, said Dr. Jeff Levenson, a volunteer assistant at the APBD Research Foundation in New York.
For a person to inherit the disease, both parents must be carriers.
Detection for the mutation has only recently been added to a panel of diseases that Ashkenazi Jews can be tested for at Mount Sinai Hospital in New York City, but Levenson is hopeful that once more people learn about APBD, testing for the mutations will increase.
A person with APBD has “a shortened life span,” Levenson said. “Usually by age 50, although we have patients in their 30s,” APBD begins to “wreak havoc” on the bodies of people with mutations to this enzyme, he said.
The disease is rare. Only 160 to 200 cases have been documented. But Levenson believes “there are thousands out there” with APBD who don’t even know it.
Many of those people suffer through years of medical testing and treatments, often to no avail. Sufferers often are told they have multiple sclerosis, ALS (Lou Gehrig’s disease), prostate disease or some form of nerve damage.
“On average, it takes seven years to find a diagnosis,” Levenson said. Meanwhile, a person’s numbness continues to move from the outer extremities up the legs and arms. Balance also is affected.
“I went through the medications and nothing worked,” Epstein said.
Almost 15 years from the onset of symptoms, Epstein, 70, finally received the correct diagnosis after undergoing tests at Kennedy Krieger Institute in Baltimore.
By this time, his numbness had “slowly worked its way up from my feet, to my ankles, shins and knees. It’s progressive so the further down the leg, the more the numbness,” he said.
“It was frustrating, because nothing resolved the situation,” said Epstein, who is retired from his job as a financial manager with the federal government. He occasionally uses a cane while walking at night. His brother, however, needs a wheelchair, he said.
While frustrated with his doctors’ ignorance about the disease, Epstein acknowledged that he probably would be in the same medical state he is in now even if he had been told right away. That’s because there currently is no treatment for APBD.
He tries to stay active by walking, riding a stationary bike and doing balancing exercises with a physical therapist. “Hopefully this will delay” medical problems he knows are headed his way, he said.
An Atlanta attorney who asked that his name not be used isn’t sure how long he has had APBD symptoms since he didn’t go to the doctors early on for what he considered minor problems, said his wife.
He retired when he was in his early 60s and around that time he began stumbling and appeared stooped over. One of his two children told him he seemed drunk, his wife recalled. He soon found himself exhausted after only walking a block — and this was a man who regularly traversed an 18-hole golf course, she said.
Now 70, he requires a wheelchair to get around.
At various times, he was told he had neurological problems or advanced MS, and was given “heavy drugs,” his wife said.
Both Epstein and the Atlanta couple are involved in increasing the number of people on APBD’s patient registry, which also includes each patient’s medical history. “It allows researchers to understand more of the natural history of the disease, how it progresses over time,” Epstein said.
Using the acronym for the disease, the foundation is encouraging anyone who is an Ashkenazi Jew, has peripheral numbness or weakness, uses the bathroom frequently, and has diminished energy to take a saliva sample that Columbia University in New York will analyze to see if someone has the disease.
APBD’s foundation created a two-page “open letter to Jewish community members and leaders” that explains the disease. It urges anyone who suspects he or she may have it to contact the research foundation. With more patients on the registry, the chances of a drug company working toward a cure increase, according to the letter.
Very little research is taking place now, said Levenson. “This is really the Wild, Wild West.”
For information, go to apbdrf.org