Hope for Huntington's Disease

April 24, 1993

"This is not [just] hope for those who are afflicted. This is life," said one woman who suffers from Huntington's disease, upon hearing of the recent discovery of the renegade gene that triggers the malady. Her enthusiasm -- despite the fact that any potential cure is still years or even decades away -- suggests the extent to which this fatal inherited brain disorder blights the lives of families in which the disease has occurred.

The genetic discovery, published in the scientific journal Cell, now makes it possible to conduct accurate screening for the gene, thus relieving the suspense of thousands of people at risk. For those who will learn that they are free of the defect, that is tantamount to a new lease on life. But for others the news will be bleak indeed. They can expect inevitable mental and physical deterioration, culminating in death.

Given that prognosis, any screening efforts will need to be carried out with great care and enormous attention to counseling and psychological support. Likewise, there should be safeguards against abuses, such as any attempt to use the test as grounds for denying health coverage for "pre-existing conditions." Knowledge is power, and power is subject to abuse.

Folksinger Woody Guthrie is perhaps the best-known American victim of this disease, which relentlessly destroys the brain, causing involuntary movements and even dementia before it leads gradually to death. One of the more frightening aspects of the disease is that it shows no symptoms until age 35 or so. At that point, many people have already had children, who could also develop the disease. As Woody Guthrie's son, Arlo, has eloquently testified, the suspense of wondering whether he or one of his children will meet his father's fate is a constant burden. About 25,000 Americans currently suffer from the disease, and another 100,000 are at risk.

The ability to screen for the defect is only the first step toward being able to cure or even ameliorate the disease. It is, in other words, only a limited victory. But for people who have lived without hope for so long, the first step toward hope -- and toward life -- may be the most important one of all.

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