His Doctors Were Stumped. Then He Took Over.

His Doctors Were Stumped. Then He Took Over.
By KATIE THOMAS
Feb 4 2017
https://www.nytimes.com/2017/02/04/business/his-doctors-were-stumped-then-he-took-over.html

They called him the Beast.

David Fajgenbaum was the fittest of his friends at the University of Pennsylvania’s medical school, a 6-foot-3 gym addict and former quarterback at Georgetown. His mammoth hands seemed more suited to spiraling footballs than the fine fingerwork a doctor-in-training might need. He had endurance to match, taking multiple hits and returning to the field to play on.

“This guy was a physical specimen,” said his former roommate, Grant Mitchell, who used to walk to work with him. When they would arrive at the hospital for his obstetrics rotation, his friend recalled, “he would basically coerce me into doing pull-ups on the tree outside.”

In July 2010, that all changed. The 25-year-old woke up at night drenched in sweat. His lymph nodes were swollen. He felt stabs of abdominal pain, and odd red bumps began sprouting across his chest. Most bizarre of all, he felt very tired — so tired that he began slipping into empty exam rooms between patients, stealing five-minute naps to get through the day.

“Guys, I think I’m dying,” he recalled telling his friends.

A visit to the emergency room confirmed his fears. A doctor told him that his liver, kidneys and bone marrow were not working properly. Even more troubling, the doctor had no idea why his body was failing. “What do you think is going on?” he remembers the doctor asking him.

Pursuing the answer to that question, it turned out, would become his life’s work. It would transform Dr. Fajgenbaum from a patient on the brink of death five different times, whose illness stumped specialist after specialist, to one of the leading researchers in his field. He has even used himself as his own test subject, and may have discovered a treatment for his rare disease.

His story, which has been circulating inside medicine, is more than one person’s remarkable journey, however. It offers a look into the world of rare diseases, a corner of medicine that continues to frustrate — and flummox — those who seek cures for obscure conditions. About 95 percent of all rare diseases have no approved drug treatments.

Fewer than 8,000 people in the United States are found to have Dr. Fajgenbaum’s condition in any given year. But taken as a whole, rare diseases are not unusual: An estimated 30 million people in the country — or about 10 percent of the population — are living with one of the nearly 7,000 rare diseases that have been identified.

Prompted by financial incentives passed by Congress, the drug industry is hotly pursuing treatments for a throng of rare diseases. That has led to breakthroughs in several conditions, including cystic fibrosis and spinal muscular atrophy. Nevertheless, with a small number of subjects to study and relatively few people to sell new drugs to, many rare diseases are overlooked by doctors and scientists, hampered by a lack of resources and public awareness.

Dr. Fajgenbaum’s condition is one of the many that have been given relatively little attention. Initially, doctors thought he had a common form of cancer. A CT scan — a series of images that give doctors a clearer picture of what is going on inside the body — revealed a body riddled with enlarged lymph nodes, a hallmark of lymphoma. The news struck a particularly cruel blow: Only a few years earlier, while Dr. Fajgenbaum was in college, his mother died of brain cancer.

He declined rapidly as his immune system went haywire. A retinal hemorrhage, a type of ministroke, temporarily blinded his left eye. Fluids leaked out of his blood vessels, a sign that his liver was failing. Over the next two weeks, he gained about 70 pounds of extra fluid and his brain fogged over.

For those who knew him as the Beast, the transformation was jarring.

“Even when he got sicker and sicker and eventually went into the hospital, it was kind of like this, oh, weird, Dave must have some really awful virus — that’s one hell of a flu,” his friend Dr. Mitchell said.

[snip]

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