Interview With Dr. Nazli McDonnell, Part 2

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

[STARTS MID-SENTENCE]

INTERVIEWER

-- born with EDS?

DR. NAZLI McDONNELL

[14:00:12:03] As far as all, all -- As far as we know, all races and ethnic groups can be affected with EDS.

INTERVIEWER

I … 'Cause I re -- I've done some reading and back in, um … 400 B.C., Hippocrates wrote that nor -- "nomads and Scythians were lax of joint and had multiple scars."

DR. NAZLI McDONNELL

[14:00:34:23] And it may have been true in Homer's time but the way we have all gotten mixed up I don't think it's the case. There is also erroneous statement in Wikipedia that EDS is more common than, uh, in redheads and it's not. [LAUGHS]

INTERVIEWER

That -- that's very important.

DR. NAZLI McDONNELL

[14:00:51:18] Okay, I was gonna go in and edit that but I didn't. [LAUGHS]

INTERVIEWER

Would you tell me that again?

DR. NAZLI McDONNELL

[14:00:56:20] [LAUGHS] There is an erroneous statement in Wikipedia that a form of EDS is more common on redheads, and that is not a finding in our study. [OFF CAMERA COMMENTS]

DR. NAZLI McDONNELL

[14:01:11:11] EDS is generally more symptomatic in women than in men.

INTERVIEWER

Why is that?

DR. NAZLI McDONNELL

[14:01:20:03] We are trying to understand that in our study. Uh, for about every seven women with EDS we see, we see only about one man. And when we examine, um, patients from the same family, although they may carry the same gene, uh, we see fewer findings on the men than in the women. So that is a mystery and we suspect that, uh, there are some hormonal influences on the expression of the disease in a person. [14:01:55:17] Also we have found that, many men with EDS have low levels of the main hormone testosterone. And we don't know whether that's the chicken or an egg situation, whether they have more manifestations of the disorder because they have low testosterone or it's a … it's a result of the disease.

INTERVIEWER

[14:02:13:17] The young man that we talked to last week, uh … said that he was living a normal life running around being an athlete, and he came home from, uh, school one day with a mi -- he developed a migraine one day, that lasted for eight days.

DR. NAZLI McDONNELL

Mm-hmm.

INTERVIEWER

[14:02:32:21] And, uh, or some period of time that was really a long period of time, and, the doctors gave him some steroids, and that kick … kick-started the EDS and he's never returned to school since. Can you, uh, tell me a little bit about something like that?

DR. NAZLI McDONNELL

[14:02:49:25] Actually my personal impression on that is that, the steroids did not have anything to do with it. However we do see that, um, there are some triggering events, that, um, often, uh, start the more severe symptoms. [14:03:05:20] And this could be a period of intense physical activity. I have seen that history in a number of patients. So, uh, they have undertaken a heavy exercise program either in competitive sports or in their personal life they have undergone heavy, um, weight training or a, uh … a rigorous running program. [14:03:26:26] And then subsequent to that, the joint pain is, um, amplified, and they're much more symptomatic. And I suspect that the wear and tear on the joints, uh, related to this, um, high level of physical activity, can, uh, lead to the onset of the pain, in these patients.

INTERVIEWER

[14:03:49:02] Um, because, another thing I read is that, uh, doctors, pediatric doctors when they see little kids will say, oh, you -- just clumsiness in kids or you're just having growing pains.

DR. NAZLI McDONNELL

Mm-hmm.

INTERVIEWER

What can you tell me about that?

DR. NAZLI McDONNELL

[14:04:02:29] Actually, it's an invariable history with EDS that in childhood, these patients had, quote-unquote, growing pains, to the point that they would wake them up from sleep. And I think that in this case, this was an early manifestation of EDS, rather than just being growing pains.

INTERVIEWER

[14:04:24:15] Are there such a thing as growing pains?

DR. NAZLI McDONNELL

That I do not know. I think there are people, there are children who experience pain when they're growing. But I think that if the growing pains are so severe that it's waking up the child from sleep, an examination of their joints might be in order.

INTERVIEWER

[14:04:43:20] But now parents sitting at home, who, like, me as a parent, uh, at -- Almost all parents at some point their kids say oh, you know, I have growing pains or somebody says, oh, that's just growing pains. Should these parents be running their kids to specialists?

DR. NAZLI McDONNELL

[14:05:02:08] I think if the growing pains are persistent over a period of time, and if they're severe, if it's -- the child is waking up crying in the middle of the night, complaining of their legs or joints hurting, it warrants an investigation. [14:05:18:00] And I think the first step is a pediatrician, and the, um, family can ask if the joints on this child are hyperextensible. Um, if they are, um, then perhaps an evaluation by a geneticist would be recommended. Um, mind you, all children are hyperextensible to some extent, and I personally do not like making a diagnosis in a prepubertal child. [14:05:46:02] Because, um, it's a challenging diagnosis. I do make the diagnosis if there is a strong family history, for instance if we know that the mother is affected, and we see a child with significant joint hypermobility then, I can say, well, this child likely has EDS and should refrain from such things as contact sports or heavy physical activity as this can trigger, uh, the pain syndrome. [14:06:10:14] Uh, but on the average child who just comes in with some minor joint hypermobility, I hesitate to make a diagnosis until that person is through puberty and the joints are matured.

INTERVIEWER

[14:06:23:11] So you're saying that there is -- that someone can be born with EDS -- are, are people born with EDS or do they develop it?

DR. NAZLI McDONNELL

People are born with EDS. So if you have the defective gene, you have the propensity to develop the pain syndrome that can go with the EDS.