After watching the mother receive the news from Mayo, one of her closest friends made up her mind to try to find her some help. An internet search provided a name she thought was promising: Dr. William Gahl. He ran the Undiagnosed Diseases Program at the National Institutes of Health. She found a number listed for Gahl’s office and called. It was Saturday, so she was shocked when someone answered the phone. “Who’s this?” she asked. This is Bill Gahl, the voice answered. Who’s this?
She got over her surprise and told him she had a friend whose son was in need of a diagnosis. She had two minutes, the voice told her, a little brusque but clearly interested. She quickly outlined the boy’s puzzling case. It sounded like something they might be able to help with, Gahl told her. He gave her instructions on what her friend should do next.
Trying to Diagnose the Undiagnosable
She immediately called the mother. She explained the lucky phone encounter and passed on the email address Gahl had sent her. The mother looked up the Undiagnosed Diseases Program. It was, she saw, a part of the N.I.H. devoted to improving the diagnosis of rare disorders. It was started by Gahl in Bethesda, Md., in 2008, but over the past decade 11 other clinical sites have joined the program to create a network across the country; it has helped with hundreds of cases that baffled other doctors.
The mother followed the instructions on the website. She collected the records of all the tests her son had and asked his doctor to send a letter of referral, as requested. And then she waited. She knew it could be weeks before she heard from the doctors there — if her son’s case was accepted — and possibly months before he could be seen.
At the program, the case was assigned to Danica Novacic, an internist who reviewed most of the cases that came to their Bethesda clinic. As she pored over the boy’s medical record, Novacic became alarmed. Like many of the doctors who had already seen the boy, she was worried that this was a cancer. Those accepted into the program usually have to wait months for an appointment. She was concerned that he didn’t have that kind of time.
A Pathologist Has an Idea
Novacic shared the case with N.I.H. pathologists. Pathologists identify cancers and other tissue abnormalities in large part by staining tiny fragments of biopsied tissue cut in slices thinner than a human hair. Each stain highlights specific elements of the cell that would otherwise be invisible. Then the pathologist tries to identify the nature of the abnormality based on what they see in the stained tissue, along with the clinical information about the patient — age, exam and previous test results.
Julie C. Fanburg-Smith, the N.I.H. pathologist assigned to this case, was an expert in rare cancers. She painstakingly reviewed each of the stained slides sent by the boy’s doctors. Like those previous doctors, however, she was unable to identify any cancerous cells. Under normal circumstances, she might have waited for the child to come to Bethesda and repeat the study. But she agreed with Novacic that time was short, so she reached out to the labs where the biopsies were performed. Could they send her bone and bone marrow tissue that hadn’t been stained? She had a diagnosis in mind, and there were other stains that would help her confirm her hunch.
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