The Columbia Center deals with every aspect of the disease, both for those already suffering from HD and for those at risk, and it endeavors to help patients through each stage. It’s unique in that the care it offers is free, although there are nominal fees for some parts of the gene test. The center’s testing protocol, established and refined over the fifteen years since the Huntington’s gene was first identified, is actually an involved process, one that takes place over a few months—and is an infinitely better one than what my mother went through. One of its chief purposes was to slow me down—to let me think over what I was doing. As the center’s genetic counselor warned me at the start, “Once you know, you can’t not know.”
There was the session with the genetic counselor, a visit to a psychiatrist, neurological and neuropsychological exams. If after all that I still wanted to know, they would draw my blood and tell me the result of the gene test. That result would be a number—the number of times a particular string of glutamine DNA, known as CAG, repeated itself at the beginning of my Huntington’s gene. If that number was 27 or below, I was in the clear. If it was 36–39, I would fall into a tiny percentage of the population that might, or might not, develop the disease. If it was 40 or more, it meant that I had inherited the defective gene—and that I would get the disease.
I threw myself eagerly into the testing process, glad now to be doing this, to be confronting these phantom fears. The not knowing by now had become as bad as knowing the worst could possibly be, I told myself. I disavowed everything I had told people before. Best to look this fate in the eye, to see if it really was waiting for me.
The initial exams went well. The doctor found no signs that I had the disease already (my twitching left arm promptly stopped twitching so much). But the doctor seemed less than pleased that I was taking the test at all. The genetic counselor had insisted that there was no right or wrong reason for wanting to take the gene test, but it seemed clear that I had made the wrong choice.
Later, I found that I had misinterpreted the doctor’s attitude. There really was no right or wrong reason to get the test, she was simply a little surprised by my motives. Most of the people they saw came because of some life trigger. They were making career decisions, getting married, thinking of having children—or wanting to spare their children, now marriage age, from having to take the test. Or they had just learned that Huntington’s was in the family, or that a genetic test existed.
Getting tested so that you could see what you could do about the disease was unusual … in part because there is currently nothing you can do to cure the disease or even curb its progress.
Huntington’s is what the federal Food and Drug Administration (FDA) officially calls an “orphan disease”—it affects too few people to make it worth the drug companies’ while to develop a drug for it on their own. The official cutoff number is 200,000 people; Huntington’s currently afflicts only 30,000 to 35,000 people in the United States, with perhaps another 200,000 to 250,000 at risk of getting the disease.
The National Institutes of Health (NIH) provide subsidies in such cases, but the total amount spent in the U.S. on finding a cure this year will probably be no more than $120 million to $130 million. A substantial sum, to be sure—but not so much when you consider that it can easily cost drug companies $1 billion to come up with an effective drug. As it stands now, a cure is not on the horizon. The most promising idea seems to be “turning off” the defective Huntington’s gene, but discovering how to do that presents a host of technical problems that remain far from solved.
The doctor’s surprise at my motives drew me up a little short—not a bad thing. Getting tested for the gene of a hereditary disease with no cure is and should be a hugely complicated decision, one with implications beyond one’s own self. It can mean “outing” other family members, who may have no desire to learn if they will get the disease. It can mean any number of problems with one’s health insurance (no doubt a big reason why fewer than 3 percent of at-risk Americans get tested for HD, as opposed to 20 percent of Canadians who might have the gene). It can mean dealing with unanticipated feelings of guilt, dread, despair. It all made me think again. Was I engaging in a reckless act of bravado, moving into a realm that I was not psychologically or emotionally prepared for, just to show that I could do it?