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Genetic Testing Reveals Devastating Illness

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Genetic Testing Reveals Devastating Illness

Health

Genetic Testing Reveals Devastating Illness

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RENEE MONTAGNE, host:

This is MORNING EDITION from NPR News. I'm Renee Montagne.

Today in Your Health, genetic testing and the ways it is changing lives. In a few minutes, we'll have an update on a new federal privacy law involving your genetic information. Congress passed the law last year, and it went into full effect over the weekend.

First, though, the story of one man's decision to test his DNA for a deadly disease that killed his father and will probably kill him as well. Michelle Trudeau has the story.

MICHELLE TRUDEAU: Charles Sabine has been a correspondent with NBC News for 25 years, covering every major war, armed conflict and disaster during that time, winning an Emmy and other journalism awards for his television reporting. Then, four years ago, Sabine took a genetic test that told him how he's likely to die, from a devastating genetic illness called Huntington's disease.

Mr. CHARLES SABINE (Correspondent, NBC News): Nothing that I've experienced compares with that test in terms of the terror that it inflicted on me.

TRUDEAU: Now, like all genetic stories, this one begins at least a generation back, with Charles Sabine's father, in 1994.

Mr. SABINE: When we discovered that he had something which I had never heard of, in fact, most people had never heard of, something called Huntington's disease.

TRUDEAU: A progressive, fatal disease that destroys a person's nervous system. First, Sabine's father lost his ability to walk normally.

Mr. SABINE: It looks like someone is drunk. But, in fact, of course, they're not. They're just simply exhibiting the problems with the motor skills that are the early symptoms of this disease.

TRUDEAU: Within a few years, he'd had lost all his motor control and his ability to speak. His mind declined into dementia. Huntington's disease is incurable and essentially untreatable. But it's even worse than that.

Mr. SABINE: The worst part, of course, as far as my father is concerned, was that he was effectively going to pass this on to my brother and I. So my brother and I both had a 50-50 chance that we, too, would develop this disease in ourselves.

TRUDEAU: If either son had inherited the disease gene - and a blood test can determine this - then he will, inescapably, get the Huntington's.

Mr. SABINE: And that would happen most likely in our 30s or 40s. And at that time, my brother was in his late 30s. I was in my early 30s. So it was devastating news for us.

TRUDEAU: Sabine's brother, then a successful lawyer in England, decided to get genetically tested right away because he had four children and wanted to know what lay ahead for his family. The test revealed the worst: He had inherited his father's Huntington's gene.

Soon, symptoms began - first, the jerking arm movements, the drunken walk. And since, a progressive downward slide. He had to stop working at 42, and is now entering the advanced stages of Huntington's.

But Charles Sabine, for several years, did not get the gene test, did not want to know - not until 2005.

Mr. SABINE: I reached a point in my mid-40s when I decided that I needed to have the empowerment of having that knowledge, because I wanted to make decisions about having a family, relationships and having children.

TRUDEAU: So Sabine left Baghdad - where he was covering the war for NBC - and flew to London.

Mr. SABINE: I have also now been tested and I, too, now have - know that I will be taken by this disease, as well.

TRUDEAU: For a long time, Sabine kept his genetic test a secret from friends and family, not telling his mother for almost three years, knowing the grief the news would cause her. She'd nursed his father throughout, at one point breaking both her wrists lifting him out of the bath.

Mr. SABINE: And she buried him with his disease, and she's now going to bury my brother and then me, most probably.

TRUDEAU: Huntington's usually start in middle age. Sabine is now 49. He says he hasn't noticed any symptoms yet. But´┐Ż

Mr. SABINE: Not an hour goes by when I don't watch myself for symptoms. Every time I take the dogs out for a walk, I wonder if this is the first time that I'm going to trip and my coordination has started to fade.

TRUDEAU: In early 2008, Sabine and his wife made the decision to have a child. Today, they have a 17-month baby girl.

Mr. SABINE: And her name is Breezy, and she's very beautiful. And she very happily does not, I happen to know, have the Huntington's gene.

TRUDEAU: While Sabine no longer does any news reporting for NBC, he does work exhaustively to get word out about Huntington's, giving lectures, drumming up research dollars, volunteering for genetic studies.

Mr. SABINE: I mean, I wouldn't say anyone can be a television correspondent and go to Baghdad, but more or less anyone can do that. Not anyone can do what I'm doing now. And it just struck me that there was nothing else I should be doing. For as long as I can do this, I will do this, because it serves a much greater purpose. So while I can still put a sentence together, I shall go and do my bit to talk about this disease and raise awareness about it.

TRUDEAU: All toward putting a human face on this genetic disease that afflicts an estimated 30,000 individuals in the U.S. and their families who care for them.

For NPR News, I'm Michelle Trudeau.

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