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Home / MCNTalk / One Man’s Mission in the Realm of Rare Diseases

February 7, 2017

One Man’s Mission in the Realm of Rare Diseases

It may sound odd when first hearing it, but “rare diseases” are not unusual. In fact, an estimated 30 million people in the United States are living with one of the nearly 7,000 identified rare diseases. About 95 percent of these diseases have no approved drug treatments, and due to the small number of subjects to study and few people to sell new drugs to, rare diseases are often overlooked by doctors and scientists.

The New York Times ran an inspiring article about a man diagnosed with Castleman disease, a condition so rare that it has largely remained a mystery since the 1950s and few doctors have experience with it. Dr. David Fajgenbaum’s life changed when at 25-years -old he began experiencing odd, flu-like symptoms before his immune system went out of control and he began rapidly declining. A type of ministroke temporarily blinded his left eye, fluids leaked out of his blood vessels as his liver began failing, he gained about 70 pounds of extra fluids in two weeks, and then his brain began to slow down. At first, doctors had no idea what was going on and it wasn’t until they finally tried a huge dose of steroids that Dr. Fajgenbaum’s body began to fight back. After seven weeks of being in the hospital he was able to walk out – the beginning of a long cycle for Dr. Fajgenbaum, alternating between periods of health and horrific relapses.

However, this article is not only about Castleman disease and the incredible recovery Dr. Fajgenbaum has made. Ultimately, the doctor dove into scientific research on his disease and despite life-threatening relapses has continued to search for a cure. Progress is being made, and there is optimism about a new drug that the doctor himself has been on for over three years. David Fajgenbaum has a single-minded mission to take on his own disease in the world of medical research where discoveries come slowly and true breakthroughs can take years.

“I almost wish that every disease had a David to be a part of the charge,” – Dr. Mary Jo Lechowicz, a professor at the Emory University School of Medicine.

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