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When nothing can be done Christine DeMark lost her job but gained faith after finding she has Huntington's Sunday, July 02, 2000 By Byron Spice, Science Editor, Post-Gazette
Three letters -- C-A-G -- spelled devastating news for Christine DeMark.
In gene-speak, CAG is a word for a string of DNA chemicals that creates an amino acid called glutamine. Each of us has a dozen or more CAG sequences in one particular gene in our bodies.
But Christine DeMark has a mutated gene, one that contains scores of CAG sequences.
What this genetic stuttering means is that DeMark, now 38 and in good health, will eventually have trouble thinking, controlling her movements and suppressing her impulses. Over the course of the next 10 or 20 years, she will suffer severe depression and debilitation.
Then, like her mother and her mother's mother, she will die young.
Barring a medical breakthrough, this is DeMark's future, the fate of all those who have Huntington's disease.
DeMark learned about her condition from a genetic test she took in 1995. Bad news grew worse in the following weeks and months: She lost her job, she lost her fiance and she strained her ties with her family.
Without wanting to, she became a symbol of the downside of genetic medicine, demonstrating what can happen when too many people know too much about a disease for which too little can be done.
It's a problem that will only get bigger. As the Human Genome Project finishes assembling the sequence of the genetic code in the next few years, the number of genes known to be associated with illnesses and other disorders will climb.
And so will the prospect that the information may be misused.
Preparing for the news
DeMark knew the risks of getting tested. She had spent a year preparing for it, repeatedly shuttling between her home in Milwaukee and the genetic counseling office at the University of Michigan in Ann Arbor.
"But I still wasn't ready to deal with everything that happened," she said.
In one sense, DeMark is unusual. The vast majority of people at risk for Huntington's disease choose not to be tested, preferring not to know about a fate they can't alter and not wishing to share that knowledge with employers, insurers or even family.
Folk legend Woody Guthrie, who died in 1967, was one of the most prominent people to die of Huntington's, and his musician son, Arlo, has been prominent in his resistance to being tested. At age 52, Arlo seems to have escaped his father's fate.
Despite it all, DeMark doesn't believe testing was a mistake for her. To understand why, you have to go back to the very beginning of her story in her hometown of Detroit.
It was the early 1970s, DeMark was 12 years old and her mother had just been diagnosed with Huntington's disease.
As she recalls it, her mother had already suffered from depression and mood swings for some time before the diagnosis was made, and DeMark's grandmother had previously died of Huntington's.
Huntington's is the kind of inherited disease that takes only one copy of the defective gene from either parent to cause the disorder. If the Huntington's patient then has children, he or she can pass along either the defective gene or a normal copy. That means every child of a Huntington's parent has a 50-50 chance of getting the disease. Christine's mother had 50-50 odds, and so did she.
A lost childhood
When DeMark first learned about her mother's disease, "I thought it was like a cancer. I wanted to know if she would die from this." She and her two brothers were sent to psychiatrists, who explained that they would be at risk of getting the disease themselves. She asked them questions, but she often couldn't understand the replies.
She didn't know it then, but her childhood had effectively ended. Her mother would survive another 10 years "and they were pretty ugly -- suicide attempts left and right, severe depression." Her parents divorced and the teen-age DeMark became her mother's caretaker, changing her diapers when she couldn't get out of bed.
"When you have a childhood like that, you don't realize it's any different from anyone else's," DeMark said. "I thought it was my fault, that if I could have been better, maybe she wouldn't be sick."
Along with the guilt, though, a lot of anger built up during that decade of her mother's decline, and her own genetic risk hung heavy. By the time the Huntington's gene was discovered in 1993 and a DNA test became available, DeMark wanted to know for certain that she did not share her mother's fate.
"My mother had taken my youth," she explained. "I was hoping this Huntington's thing wouldn't take any more of my life."
She had earned a finance degree at Wayne State University and become a sales manager at Pitney Bowes in Detroit. After getting a promotion to Milwaukee in 1990, she jumped to a better-paying sales position at a small management consulting firm. By 1994, when she sought genetic testing at the University of Michigan, she had been married, divorced and engaged again.
In her heart, she knew she didn't carry the Huntington's gene and wanted confirmation so she could have children of her own.
"At the time, I thought it was easier to make decisions based on information, rather than guesses."
Over the course of a year, DeMark and her fiance had counseling sessions in Ann Arbor to learn more about Huntington's, the testing procedure and preparations she should make.
An adverse result could affect her insurability, so she was advised to buy health and life insurance before having the test. She and her counselor discussed how she might react to the test results and how her family and fiance might react.
An overheard call
As the July 1995 testing date approached, a co-worker in her office overheard her phone calls as she made arrangements and, concerned for her health, told her supervisor. Her boss seemed sympathetic, asking if there was anything the company could do to help her.
But when she returned from Ann Arbor after the testing, her boss called her aside and told her he was moving her from her outside sales position, which required extensive travel, to an inside sales post. He said he wanted to reduce the strain on her.
Over the next couple months, however, it seemed that the company was trying to make her life miserable. She disliked the new position. Her supervisor began criticizing her work and extensively rewriting the reports she produced.
"They were trying to get me to quit," she concluded.
Meanwhile, her private life was crumbling. Her fiance, who knew about her family history and had been supportive during counseling sessions, grew uncomfortable with the idea of testing. "He couldn't deal with whatever the results would have been," she said. Two weeks before the results became available, he broke off the engagement.
In September, she returned to Ann Arbor with her father and stepmother to learn the test results.
It is her father's reaction she remembers.
"He felt guilty," she said, even though she wasn't sure why. "You could see it all over his face." He said he felt fine, but he started answering questions with curt, defensive answers. Her stepmother also was upset. As bad as she felt herself, "I felt worse for those guys."
A phone call to her former fiance went even less well. Her brothers, who have opted not to be tested, were uncomfortable talking about it. Her older brother waited a month before returning her call.
And when she returned to Milwaukee, her boss told her the firm would have to let her go. Nothing to do with the Huntington's test, of course, but she just didn't fit in with the firm's long-range plans.
Company officials later denied they based their decision on the test results.
DeMark believed otherwise, but didn't sue to get her job back. "Milwaukee is a small town," she explained, and a lawsuit would only advertise her condition and scare away whatever job prospects remained.
"I suffered really bad depression that first year," she said. She found another job, but she didn't feel the same confidence as before the test and didn't want to be close to anyone for fear of the same abandonment her mother had suffered.
In time, she found comfort in religion and in the belief that God will heal her. She moved back to Detroit two years ago, and got a job at a marina selling boats.
Her brothers have chosen a different course. Both are scientists, married and with no plans to have children. They also don't plan to be tested, don't talk to DeMark about it and they keep their risk of Huntington's a secret (DeMark is Christine's married surname).
"I don't get up everyday and think about it," she said. "It helps, of course, that I believe I won't get sick." Despite the historically gloomy outlook for Huntington's patients, she trusts that doctors will soon find a cure or treatment and that God will watch out for her.
"I believe God gave me this for a reason -- to help people," she added. She became involved in the local Huntington's Disease Society chapter. She has spoken about the impact of genetic testing before professional groups, appeared on CBS's "60 Minutes," and, this spring, testified before a federal panel preparing recommendations on genetic screening policies.
"There's been a lot of people I've been able to help because of this," she said. "I figure that nothing else can happen to me, so I'll speak out when other people can't."
Correction/Clarification: An earlier version of this story included one or more photos by Allan Detrich. The photos have been removed. This action is explained in a note from the editor.
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