Go to the Globe and Mail homepage

Jump to main navigationJump to main content


'I know how I am going to die' Add to ...

Jeffrey Carroll is about to learn whether the drug he is dripping into the brains of mice works. These are no ordinary mice; they are bred to mimic Huntington's disease. Mr. Carroll is no ordinary scientist; he carries the gene for that devastating neurological disease, which, despite more than a century of research, still has no cure or treatment. It is here, in the biggest Huntington's laboratory in Canada, that Mr. Carroll hopes to change all that - and alter his own genetic destiny.

Research is moving fast, but the question is whether it will be fast enough for Mr. Carroll, who is living out the scientific version of Beat the Clock: Unless a treatment is found, he will eventually show the telltale symptoms of slurred speech, uncontrolled ticks and jerks as early as his late 40s.

"Killing you is not the cruel part of this disease. It destroys your personality and turns you into an object of horror for your family," explains the 30-year-old, who's at work on his PhD in neuroscience. "Even if they love you, nobody can watch it and not be horrified."

No one knows this better than Mr. Carroll, a slender, fit man who looks like the poster child for good health. He knows what awaits him: Huntington's disease killed his grandmother and, more recently, his mother, Cindy Carroll, who died in December at the age of 54. Near the end, she had to be placed on floor mats in the nursing home in a Washington state town, so severe was her violent, involuntary thrashing.

This is the inherent viciousness of the disease: A child who watches it slowly kill a parent has a 50-per-cent chance of developing it, creating this perpetual cycle of grief and suffering.

"It is the most profound thing. You know how you probably are going to die," Mr. Carroll says. "You watched somebody you love die the exact same way."

More than 3,000 Canadians have the incurable brain disorder and 18,000 more are at risk of developing it, according to figures from the Huntington Society of Canada. The disease typically stalks people in their 30s or 40s, snatching bits and pieces of them in the form of forgetfulness, clumsiness and slurred speech. Involuntary jerks and ticks make sufferers the object of stares.

A patient with Huntington's is trapped inside a body that can perceive but not express, as if their very being is slowly extinguished. In the late stages, patients are left incontinent, unable to walk, talk, think or swallow. But it takes many agonizing years to get to that point. Death comes 10 to 25 years after diagnosis in the form of an infection or other complications.

The disorder can be traced to the Middle Ages. One of its earliest names - "chorea," from the Greek word for dance - described how these patients uncontrollably writhe, turn and twist. But it wasn't until 1872, when U.S. physician George Huntington wrote about a rare illness, "an heirloom from generations away back in the dim past" that the disease got its present name.

He was the first to write about the disease's three distinct features: It is hereditary, appears in adult life and brings a tendency to insanity or suicide. Others have referred to it as "Woody Guthrie disease," as the famous American folk singer died of it in 1967.

About 135 years after it got its name, the genetics of the disease are well known, but it has not translated into a cure.

The mutant gene sits on the short arm of our fourth chromosome. There, the letters of the genetic alphabet C-A-G can normally repeat as many as 35 times in a row. Those with 36 repeats or more will develop Huntington's disease, should they live long enough. The greater number of C-A-G repeats, the earlier the disease will typically strike. Mr. Carroll's C-A-G is 42, which means he could start showing symptoms as early as the age of 49.

"Certainly, given enough time, I know how awful it is going to be," he says. "It's the only thing, I often think, that makes me different … the knowledge that I am one of them, that I am going to die. I know how I am going to die."

Put to the test

The genetic test for Huntington's disease has been available since 1993 and is covered by public health care, yet only 18 per cent of Canadians at risk take it, according to figures from the Huntington Society.

"I guess they feel they would rather not have this information because there isn't anything they can do to change it," says Joanne Honeyford, manager of clinical genetics at the North York General Hospital in Toronto.

Marriages can crumble under the weight of a positive test result. Dreams of having children vanish. There are worries about how an employer might react. And there are the very real possibilities of being unable to obtain life and long-term-disability insurance.

Report Typo/Error
Single page

Next story




Most popular videos »

More from The Globe and Mail

Most popular