Rare illnesses tackled by elite NIH unit

Turning down patients for his Undiagnosed Diseases Program is the hardest thing he has done in his life, says Dr. William Gahl. Watch Lara Logan's report on Sunday, May 20 at 7:00 p.m.

(CBS News) Trying to diagnose a rare disease the best medical professionals have been unable to identify is hard enough for Dr. William Gahl, the head of the Undiagnosed Diseases Program at the National Institutes of Health. What's harder - in fact the hardest thing Gahl says he has had to do in his life - is turning down thousands of people a year for this program that can accept only 150-170 patients a year. Lara Logan reports on Gahl and this special unit tasked with unraveling life's medical mysteries in a 60 Minutes story to be broadcast Sunday, May 20 at 7:00 p.m. ET/PT.

Gahl, who personally selects the relatively few patients from the thousands who seek hope in his program, may have the toughest job in medicine. "That's part of the triage process which is very heartbreaking and difficult to do," says Gahl. Rejects will often remind him of what their rejection means. "When the patient comes back to us saying, 'You know, you are our last hope.' I would say it's the most difficult thing that I've done in my life," Gahl tells Logan.

The program is tax-payer funded and free to those accepted, but acceptance is by no means a ticket to health. The diagnosis rate is in the 10 percent range; so far, the 4-year-old program has successfully diagnosed 45 cases out of 450. Just as important as the diagnoses, however, is the data collected, especially genetic information, by fully evaluating each patient. With a relatively modest annual budget of $3.5 million, Gahl says the Undiagnosed Diseases Program is among the best uses of taxpayer funds.

Besides the miracle a diagnosis means to a family seeking one for as long as decades, "What price do you put on the new discovery that one makes for a new disease that now has applicability to other patients unknown, untold, not seen yet," Gahl says. "The possibility of allowing that diagnosis to be part of our medical armamentarium."

60 Minutes followed four of Gahl's patients during the course of the story, including Sally Masagee, the one whom the unit was able to diagnose. Masagee's muscles were growing to a dangerous and grotesque size, a condition no doctor could pinpoint the cause of. She was accepted to the program before the condition affected her heart muscles.

Gahl and his team found a rare cancer in Masagee's plasma cells, a diagnosis that would make most cringe. Masagee had the opposite reaction. "I was thrilled and excited," she tells Logan, "They weren't going to figure it out during the autopsy." A stem cell bone marrow transplant saved her life.

Most are not as lucky as Masagee. But even some of them, in their deaths, provide inspiration to Gahl and his team. "There are many individuals who come to us and say, 'I know I'm too far gone now, but if I can help somebody else, I'd like to do that,'" says Gahl. "It's an incredible window into the human spirit..."