Hard cases: Investigating rare & tough diseases

Dr. William Gahl is one of the last, best hopes for people suffering from rare, debilitating, and undiagnosed medical conditions

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Four years ago, when Dr. Gahl created this program to help people like Christine, there was nothing of its kind in the U.S. Here in his lab, scientists search for links between rare, unknown diseases and genetics. As with most of his patients, he suspects Christine Davidson's own genetic makeup may be at the root of her illness.

William Gahl: Do you have a brother, sister?

Christine Davidson: Yeah, I have two brothers that are totally healthy and two sisters that do have health problems.

William Gahl: Yeah. But not this?

Christine Davidson: (Shakes her head no.)

William Gahl: So you have four siblings and your dad, and they are all available for us to get blood from them if we need it?

Christine Davidson: Yes.

As part of her evaluation, Christine must undergo a week of intense testing here at the Clinical Center of the National Institutes of Health. Dr. Gahl has a small staff and a small budget -- three and a half million dollars out of the billions the government spends on medical research here.

Lara Logan: So what's unique about what you do here?

William Gahl: We think there are a couple of things. For one, we don't take insurance. And that allows us to see patients for a week at a time as in-patients. And get done within one week what will often take a year or two on the outside. But the second thing is, we're able to gather together a bunch of experts within a single room or within a single admission in a way that often can't be done in other places.

Lara Logan: So who pays if a patient comes to you and you accept them, who's paying the bill?

William Gahl: Actually you are. I often tell the patients its taxpayers money at work. But what price would you put on making a diagnosis for a family or a patient that has desperately sought one for years?

Lara Logan: Sometimes 20 years, 30 years.

William Gahl: Yes, sometimes even decades. And what price would you put on the new discovery that one makes for a disease that now has applicability to other patients unknown, untold, not seen yet? And the possibility of allowing that diagnosis to be part of our medical armamentarium.

At the clinical center we met another one of Dr. Gahl's patient: 19-year-old Matthew Parker. He was just beginning his week of testing.

William Gahl: When was the last time you played tennis?

Matthew Parker: Probably since I was 15 I haven't played.

Matthew was once a promising tennis player. Today, he can barely move, crippled by joint pain so severe it hurts to chew his food.

[William Gahl: Anytime that we find a base-- a region like that, that's deleted...]

Dr. Gahl thinks missing genes in Matthew's DNA may be the cause.

[William Gahl: Really, what you have has all the earmarks of that.]

He does his best to explain a very complicated subject.