Interview With Dr. Nazli McDonnell, Part 1

This is an unedited, complete transcript of ABC's interview with Dr. Nazli McDonnell.

OFF CAMERA COMMENTS]

INTERVIEWER

All right, so, [CLEARS THROAT] the first one is the obvious one, I mean if you can give us just a very…simplified, concise definition of what this mysterious EDS is.

DR. NAZLI McDONNELL

EDS, Ehlors-Danlos syndrome, is a disorder of the connective tissue, which includes the joints, the skin, and sometimes the blood vessels.

INTERVIEWER

But why is it so mysterious?

DR. NAZLI McDONNELL

It's mysterious because it's often missed. That's because the patients who have EDS look just like any other normal person, average person, when you look at them. But the defect is in their skin…because if they injure their skin it can take a long time to heal.If they scar it can become a very abnormal, big scar. Their joints look normal to look at, but they can dislocate, and they have a huge amount of pain associated with the joints. And the blood vessels, they…they're in the right places, but they can be more fragile than normal persons' blood vessels.

INTERVIEWER

Well…one of the things that…uh, one of the symptoms that is, is most obvious, is the stretchy skin, the, um…Tell me about that, that is so mysterious, that is such a…an enigma.

DR. NAZLI McDONNELL

The reason, uh, that the patients with EDS have stretchy skin is that the collagen found in their skin is abnormal. Therefore when you stretch it, it can -- it can stretch out, way past a normal person's skin. And for that reason in the old days, patients with EDS were often in circuses, showing off their stretchy skin.

[OFF CAMERA COMMENTS]

DR. NAZLI McDONNELL

It is mysterious to the doctors because, um…it is the same reason that it's mysterious to everybody else, the people who have EDS look just like a normal person. And often they present to the doctor, complaining of joint pain or that they have scars that are big and ugly…Maybe we should redo that one [LAUGHS]. I don't wanna say ugly. Uh, the, uh, the reason, um… EDS is mysterious to the doctors is for a number of, um…causes, and, uh, one of them is that, people with EDS look like just any other person to look at. And second of all, it's rare. Therefore the doctors may have heard about it in medical school but they have never encountered a person with it so it goes to the back of their mind and they don't recall it. Um…the patients with EDS often go to the doctor complaining of joint pain. And joint pain has many causes and it's not on the top of the doctor's list that the patient may have EDS. Therefore it gets often missed.

INTERVIEWER

Uh, why do so few people know about it? About EDS.

DR. NAZLI McDONNELL

Because it's a rare disorder. Um, it affects about, um, maybe one in 5000 to one in 10,000 persons. But we estimate that only about 10 percent of those who are effected have been diagnosed.

INTERVIEWER

That's amazing to me. All right, how can it be that only 10 percent of those who have it are diagnosed?

DR. NAZLI McDONNELL

There are several reasons for that also.

INTERVIEWER

Uh, could you repeat the question, there's several reasons for what, you know --

DR. NAZLI McDONNELL

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