Jan. 11, 2003, 9:58PM
One family's story: A quandry over genetic testingBy CLAUDIA FELDMAN
Copyright 2003 Houston Chronicle
It sounded so simple to Lisa Keel.
She'd write a check, a nurse would draw her blood, a genetics lab would test it, and the question that haunted her -- was she a carrier of Huntington's disease? -- finally would be answered.
Lisa was in her mid-30s. She already feared the inherited disorder would hit her in middle age, just as it had her father and other relatives. If she tested positive, at least she could plan her future and maintain some semblance of control.
If she tested negative, she was free. She could stop worrying every time she stumbled or forgot a name or glanced at her two children. If she wasn't a carrier, the kids were safe, too.
Anxious for answers, Lisa had a blood test in December 2001 and waited three weeks for the results. She thought she'd feel relief. She'd made a decision and acted on it. Instead she panicked. What if she was positive? What if she couldn't handle the news? Should she even show up to hear her test results?
As Lisa stewed, she joined millions of Americans debating the pros and cons of genetic testing. No one disputes the value of tests that uncover treatable medical conditions. But Huntington's, an incurable disease that slowly diminishes patients' abilities to walk, talk, think and reason, often is used as the ultimate argument against testing. Some question the value of delivering such devastating news to carriers, individuals still healthy and perhaps years away from symptoms.
A Huntington's primer
Huntington's, a degenerative brain disorder, was first described by American physician George Huntington in 1872. In time, doctors learned that patients with the jerky movements and an assortment of mental problems were scattered around the globe. They were men and women, rich and poor, all races and ethnicities.
The disease is passed from affected parent to child. In some families, all children carry the fatal gene. In other families, none does. It's like the flip of a coin: Each offspring has a 50-50 chance of inheriting the bad gene. Those who get it are considered carriers even if they are asymptomatic. They're patients when they develop symptoms, as inevitably they will. Usually, Huntington's hits in middle age. Limited treatments include medications for shaking and depression.
New York psychologist Nancy Wexler, an expert on Huntington's, says less than 3 percent of the 100,000 Americans who are Huntington's carriers or Huntington's patients go through the testing.
She understands their hesitation.
Her mother, three uncles and her grandfather died of Huntington's. "People lose insurance and jobs," says Wexler, president of the Hereditary Disease Foundation. "It's something to hide."
Even Wexler won't reveal her test results, and she has been a pioneer in Huntington's research. Since 1979, she and colleagues have studied the world's largest Huntington's family, living along the shores of Lake Maracaibo in Venezuela.
Wexler and a team of scientists collected information on family members dating back eight generations, and they took several thousand blood samples. In 1993, the researchers found what they were looking for -- the Huntington's disease gene at the tip of human chromosome 4. That critical discovery led to the genetic test for Huntington's the same year.
Reactions to positive test results vary widely. Almost everyone goes through a period of depression. Some think about suicide. Some try to squeeze everything they can into what good years they have left.
Wexler hopes people can find a sense of peace and equilibrium.
Her best advice: "If you really, really want to do something, just do it, and not because you're going to die in the future. You don't have to be tested, you don't have to have Huntington's, to take the kids on a cruise around the world. ... You don't have to be crying the whole way."
True enough, says Dr. Tetsuo Ashizawa, professor and chairman of the neurology department at the University of Texas Medical Branch at Galveston, but some of his patients want to be tested so they can plan. Should they have children, for example, or adopt? Should they pursue advanced degrees and fancy careers or hold tight to what they've got?
Ashizawa, who says he would want to be tested if Huntington's ran in his family, also understands those who don't.
The blood work and counseling cost about $1,200, which most people pay out of pocket. Ashizawa says those with positive results may have trouble getting health insurance -- Huntington's would be considered a pre-existing condition. There may also be problems at work if Huntington's symptoms surface or if employers worry that they will.
Doctors who treat Huntington's are awash in haunting stories. Ashizawa mentions one capable, healthy woman who tested positive, then watched her child-care center go belly up. Even though she had no symptoms, parents panicked and pulled their children out.
Dr. Joseph Jankovic, director of the Parkinson's Disease Center at Baylor College of Medicine, recently met a young woman who wanted to be tested. She was 18 and had the grades and ability to do well in college, then succeed in whatever field she chose. But the specter of Huntington's hovered over her family, and she planned to downscale, perhaps stay close to home, skip college and work if she was a carrier.
Children usually are not tested unless they have symptoms. Eighteen-year-olds, however, are considered old enough to make the decision to test or not to test.
She was negative.
Lisa Keel and her relatives, who have battled the disease as long as any of them can remember, have experienced their share of medical dramas.
Her grandmother, great-uncle and father were just some of the relatives swallowed up by Huntington's. Now it threatens a third generation.
Patty Guedin, Lisa's mother, is against genetic testing for any incurable disease that is without symptoms.
"Don't have it until you have it," is her advice, and two of her four children agree with her.
Her other two children, both daughters, wanted to know their status. One already had the jerky movements and cloudy thought processes symptomatic of Huntington's.
Lisa had no symptoms but lots of curiosity. Her family feared she would be positive and tried to talk her out of testing. She couldn't rest until she knew.
On her 35th birthday, she had blood drawn. In early January, she went in to hear her test results. Only her husband, Doug, accompanied her. Her mother and sisters wanted to go, but Lisa said no, they'd find out soon enough.
It's taken her the past year, she says, to adjust to the results. The one word she heard the day Baylor genetic counselor Katie Plunkett gave her the news was "positive."
"I think I just sat there in shock -- it was the hardest thing I've ever had to face," Lisa says. "I didn't cry until I got out of the office and down the hall. Then I turned to my husband and held on to him. He cried, too."
Discovering the curse
When young Patty Streeter married sheet-metal worker James Gilliland in 1954, no one understood why his mother twitched and shook as she did.
Nor did anyone understand the wild stories about Gilliland's uncle.
"We just thought he was a crazy old drunk. He wound up in an institution," says Patty Guedin. (She and James Gilliland divorced in 1978. In 1988, she married Jack Guedin.)
James and Patty had four children -- Cheryl, Dandy, Gil and Lisa. They were divorced before they knew that James carried the Huntington's gene and that their children were at risk, too.
For about 20 years, James lived with Huntington's. Dandy Pankau, the only daughter still living nearby at the time, assumed much of the burden of visiting him in Denver nursing homes. Back then, Dandy was married, with two teenage sons. She's always been the kind of warm, witty person others sought out.
"Dandy got all the personality in the family," says Lisa. "She was very sharp, bubbly, funny. I used to idolize her."
Dandy was 37 in 1995, when her mother and sisters first saw in her the signs of Huntington's. There were the involuntary movements reminiscent of their father. There were other indicators, too, though Dandy seemed oblivious, and the family thought it best not to enlighten her.
For the first time in her life, Dandy was depressed. That's a common symptom in Huntington's patients, though it's often hard to tell if it's a natural reaction to the news or a sign of the disease at work in the brain. Sometimes patients have serial mental illnesses, Ashizawa says. They might start off with depression, then swing to schizophrenia, for example.
Also, Dandy seemed to be losing her snap.
When her mom asked a question, it took Dandy a few beats longer than usual to answer. What did she have for lunch? There was a terrible pause while she struggled to remember.
With Huntington's, the family knew, there is a progressive loss of cognitive ability.
By Dandy's late 30s, she was divorced, her boys were living with their dad, and she had lost a string of jobs. She was a professional in the hotel industry, but it was getting harder to find work.
She thought her employers didn't like her. The reality was she couldn't handle her assignments. In the past she'd been a quick study. Not anymore.
Patty begged her daughter to move from Denver to Santa Fe, southeast of Houston.
Patty and her eldest daughter, Cheryl Markham, would be just minutes away and could help her with anything she needed. Lisa was just a few miles farther.
Dandy, who says she still didn't know she was sick, made an easy transition to Santa Fe. That had a lot to do with her family and Barry Schultz.
She met Barry, a meter reader for the light company, at a small Sunday afternoon football party. Within a few months, they were head over heels. They wanted to marry.
Patty interceded. She likes to remind that Huntington's isn't the worst thing that could happen to somebody, nor is it the worst way to die. Still, she didn't want Barry to feel trapped. She knew he couldn't afford Huntington's financially, and she wasn't sure he could handle it emotionally, either.
Dandy and Barry settled for living together. His support helped Dandy when she lost yet another job and her mother and sisters called a family meeting. Through her tears, Patty said the shaking, the depression, the struggles with the simplest tasks pointed to Huntington's. It was time, finally, to be tested.
For Dandy, the DNA check was no big deal. Coping with the reality of the disease was heartbreaking.
"My first thought was I wouldn't be around for my kids," Dandy says, sitting in her apartment with her mom. "And I wouldn't know my grandkids."
Dandy's first-born, Jesten, is 22 and lives in Denver. He stays in touch with his mom but doesn't talk much about Huntington's or his own risk.
Dandy's other son, Brian, talked about Huntington's and worried that he might be a carrier. Mother and son were very much alike -- they even looked alike, with slim builds, cropped brown hair and lively brown eyes.
He died in a car accident on his way to high school graduation rehearsal last May.
Dandy misses Brian horribly, and she worries about Jesten and his health more than ever.
She worries about herself, too. She's 44 and has had Huntington's symptoms for seven years. She still is a beautiful woman, but the twitching is almost constant. She still is perceptive and funny, but she can't remember numbers or balance her checkbook. She used to be patient. No more.
Dandy wonders how many good years she has left.
"Not 10," she says. "Maybe eight. I try to be honest with myself. I have to enjoy today. I have tomorrow, but I may not have next year. With Huntington's, you just don't know how fast it will go."
A bitter end
Most patients spend their last few years in nursing homes, unable to walk, talk or feed themselves. At the end stage, some patients lose the ability to swallow. Some die from choking. Others die from less direct complications associated with Huntington's. They fall and fracture bones. They are susceptible to infections.
Ashizawa, Dandy's doctor, is optimistic a treatment to slow or stop the disease will be discovered in the next decade. He believes the treatment might work retroactively to help longtime sufferers.
Work on Huntington's has progressed relatively rapidly since researchers identified the gene that triggers the disease. Ashizawa says doctors are testing promising drugs on mice and fruit flies. Dandy respects her doctor's hopeful attitude, but she doesn't expect a cure in her lifetime.
During the week, when loved ones are at work, Dandy cleans house, cooks dinner and watches television. These days it's hard to concentrate on the written word. She takes medicine to control the shaking, yet it seems to get worse by the week. She also takes medicine to help with her depression.
"I know I'm losing part of who I am," Dandy says. "I know somebody's going to have to take care of me."
Sometimes, she says, she slurs words and wonders if others can understand her.
Toward the end of her dad's life, it was difficult, almost impossible, to understand him.
To know -- or not
Cheryl, 46, and her brother, Gil Gilliland, 41, are symptom-free at an age when Huntington's usually shows up. They believe they dodged Huntington's, but they don't know that for sure.
Gil, a construction worker, won't get tested.
"There's nothing you can do about it," Gil says. "Put it away."
Cheryl, tested in an ongoing Baylor College of Medicine research project that does not reveal results, wouldn't have wanted to know anyway. She thinks healthy people who know they are positive worry double time, and she points to Lisa as an example.
Lisa is the family hypochondriac, Cheryl teases gently.
The baby of the family makes an easy target, even if she is 36.
A few months ago, the family attended a fun run in Memorial Park to raise money for Huntington's research. Dandy wasn't able to make the entire three-mile circuit, but Lisa did.
Naturally, after a late-morning jog in the brutal Texas heat, Lisa was hot and wet.
"You look symptomatic," Dandy cracked.
Lisa defended herself: "The kids just poured water on my head!"
"Sure, sure," Dandy said.
Cheryl applies salve where needed. She is philosophical about the Huntington's scars they all bear.
Gil and Cheryl have spent years watching themselves for signs of disease.
"When I was in my 30s," Cheryl says, "every time I did something stupid, I'd go, `Oh my God, there it is.' "
They've also lived in fear that they gave the scourge to their kids. Only now is that weight slowly lifting.
Both have tried to support their sisters without losing themselves in the process. "It's hard being so far away," Gil says wistfully. "I wish everyone still lived here, in Colorado."
Cheryl says people occasionally ask her if she feels guilty when she thinks about her sisters' fate.
She doesn't, she says. She can feel only relief that her two children appear to be out of danger. And she expects to devote her old age to Dandy and Lisa.
"I've got my work cut out," she says.
Kidding is over
Right after her diagnosis, Lisa was depressed.
"I was mourning my life, I guess. Anytime I went anywhere by myself, I just cried. But Doug helped me through it, and our marriage is actually stronger now than it used to be. I wasn't sure how he'd react at first -- whether he'd go running off, screaming, or stick around.
"He stuck around."
Work, she says, has been a mixed bag. She was an unlicensed staff accountant, and in her small office, co-workers teased her.
Lisa says wryly, "I made the mistake of giving them the 14 signs of Huntington's, and then, when I did something stupid, they said to me, `And which one is that?' "
The kidding stopped, however, when Lisa had trouble finishing a complicated project for her boss. He offered her the job of office receptionist, hoping but not insisting that she take it.
Not yet, Lisa told him. She's still OK, still free of symptoms, and it's natural to struggle with challenging work.
Then she thought more about the pressures and hassles that came with the accounting job. Before the holidays, Lisa agreed to take the receptionist job and the pay cut that came with it.
At home, she and Doug have resolved to live in the here and now.
They took a cruise this summer.
"Doug told me we could go anywhere I wanted to go, and I picked Key West, the Caymans and Cozumel. We didn't go first class, but we weren't on the bottom of the ship, either. And we had a view of the water."
Lisa also spends more time with the kids, Jessica, 9, and Tyler, 8.
"We've always been real involved, but now we spend even more time with them. I'll put off the laundry or other chores. That can wait."
Lisa says she has no regrets about the genetic testing. She knew she'd be OK with it in the end. She knew her own strength.
It's still hard, though -- make that impossible -- to talk about Huntington's with Dandy or the kids.
Lisa knows Dandy is waiting for her to share her thoughts and fears -- they used to share everything when they were little. But it's hard for Lisa to say out loud that eventually she will be shaking, she will be forgetting, she will need an escort to the grocery store.
And the kids ... even rougher terrain. Once Lisa overheard her daughter, Jessica, talking about a woman who was in the news because she shot her two sons who had Huntington's. Lisa was upset when she heard Jessica say she understood how the woman felt.
"That's what I'd do," Lisa remembers Jessica saying. "I'd put them out of their misery."
Recently Jessica asked her mom if she had Huntington's.
What Lisa told her was technically correct, because for now she's a carrier, not a patient:
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