Although Beth, 29, of New Lenox, grew up with both her parents in Chicago Heights, she has a difficult time describing what kind of person her mother was. "I can't really answer that," she says thoughtfully. "I was only 10 when she got sick. From everything I've heard, she was very gentle. My dad says she never had an enemy."
Beth's mother suffered from Huntington's disease, a relatively rare genetic sickness that degenerates the brain, causing physical, emotional and cognitive problems. Once victims begin evincing symptoms, it takes an average of 17 years for the disease to run its course. "I just celebrated my last birthday in the 20s," Beth notes. "Now I'll be entering my 30s, and that's when my mom got it. She was 32. Her hands started shaking."
The disease, which can strike at any age, usually begins affecting people between 30 and 50. It is caused by a dominant gene, and any child of an HD victim has a 50 percent chance of developing it themselves. If the gene is inherited, the disease will develop. As yet there is no cure. As the disease progresses, patients must frequently receive full-time at-home care or be placed in an institution for constant supervision. "At the end, it's really degenerative, like a freight train," says Beth. Finding such care is not always easy, as patients behave erratically, both mentally and physically.
Dr. Kathleen Shannon, a board-certified neurologist, is head of the Huntington's research and genetic testing facility at Rush-Presbyterian-St. Luke's Medical Center in Chicago. Shannon's research group handles Huntington's cases from across the Midwest and works with other groups nationally to fight the disease. The most recent development, she says, was isolating the gene that causes Huntington's.
Researchers found the gene in 1993, which allowed them to directly test potential victims. The ethical and emotional implications are tremendous, she says. "I'm interested in the effects of the disease on more than health," she explains. "There are very complex issues involving both family and society. And," she adds, "there's major work to do on finding treatments. It's exciting to work on a disease where there's still a great deal to do."
Shannon explains that one complicating factor in Huntington's - outside the dominant gene issue - is the fairly late age of onset. Patients who don't develop HD until their mid-to-late 40s and beyond may already have children and grandchildren before they are ever aware they carry a genetic disease. And because the disease is so degenerative, causing personality changes, loss of mental ability and uncontrollable physical movements, families may have kept its presence in their family a secret.
"Things have changed a little bit because people are more forward thinking," Shannon notes, "but you still run across families that hide it. People will marry into a family, get pregnant and don't know it runs in the family." Compounding the social stigma of the disease is the insurance risk for children and siblings of victims. If Huntington's is admitted to be in the family, it becomes exceedingly difficult to get either health or life insurance without testing negative for the disease.
Shannon's group runs a genetic testing facility for at-risk people. "You don't necessarily want the insurance companies to know you're being tested," she says. "They may charge exorbitant rates. I know of one case where the insurance company tried to force a patient to be tested to determine whether or not to cover them."
Like many other insurance companies, Country Companies asks about family health history. John Lesniak of Country Companies in Flossmoor explains that applicants are questioned specifically about Huntington's. "That is one of the questions," he explains. "One of the reasons is they want to see what the parents have, and they take that into consideration," he says.
"Basically, if someone has it, they're turned down for life insurance because they die faster. If the parents had it, they'll want to see if the child has been tested." Lesniak explains that when a parent or sibling does have Huntington's, the applicant must test negative for the disease before they will be insured. "If they don't have it, they should have no problem. It's one of those unfortunate things that goes hand in hand with something like diabetes." However, if an applicant has no knowledge of Huntington's in their family, and is insured, then later develops the disease, their coverage cannot be canceled, Lesniak says.
The pressure for secrecy is heavy. And the availability of the test does not provide unadulterated relief. Those at risk must weigh living in uncertainty against possibly knowing how they may die. And after watching a parent or sibling suffer from the disease, that knowledge is something many would prefer not having.
Maryann, 36, of Calumet City, says she opted against testing, at least for now. Her mother, now 62, has shown symptoms since she was in her 40s. "She's kind of farther advanced, but not bedbound yet," Maryann explains. "Her father had it and her brother. She's the youngest in her family. Both her father and brother are deceased. She lives with my sister in Lynwood now. I have four siblings between the ages of 35 and 40."
Maryann says she's discussed the possibility of testing with some of her siblings. "I'm watching it right now. Why would I put myself through knowing that will be me? I can't deal with that right now," she explains. "You can't really do anything with the information." Because the disease is genetic, eating well, living healthily and changing lifestyle will not prevent it. There are no drugs to take to forestall its approach, no operation to slow its course. In essence, all a victim can do is wait for signs to appear. "People tend to put themselves under a microscope if there's a chance they have it," says Shannon.
Both Beth and Maryann admit to occasionally scrutinizing themselves for signs. Jitters and lapses in memory take on a frightening significance for both. "When I went with my mom to the neurologist at first," Beth recalls, "he told her to lay off the coffee and cigarettes." Maryann's mother, too, showed physical shaking before evincing any other symptoms. "The movements could be real slight. My mom started out that way but progressed," she says. "The patients themselves often don't notice (the twitching)," Shannon explains. "It's the families that are more likely to see it."
Shannon says because of the wide range of degenerative symptoms, there's no typical Huntington's patient. Some show psychological symptoms first, ranging from irritability to violent fits. She says she's seen cases of psychiatrists treating HD patients for years without correctly diagnosing them. Instead, they've been put on medication to control psychiatric symptoms. But commonly, the medications cause physical symptoms, such as twitching, further confusing the correct diagnosis. She says, for this reason, it's important for people uncertain of their family history to check for Huntington's. Children who were adopted, whose parents died young, whose parents have been absent all their lives, or who may have been misdiagnosed years ago are particularly at risk.
But for those who know HD runs in their family, the decision to have children becomes complicated. "If the disease were early onset," Shannon explains, "people wouldn't have kids. That's one of the things that has contributed to Huntington's being as predominant. The late onset age compounds the complexity of Huntington's. You don't think about your children as 40- to 50- or 60-year olds."
Although Maryann says she'd consider testing before deciding to have children, Beth, who has two children, says it was never a factor for her. "I see my mom where she was, and she would have been lost without us," she says. "I want to raise my children in such a fashion that if I get it, they're going to be there to take care of me and remember the kind of person I am."
"I think my mother raised me well when I was young. We lead such parallel lives. Hopefully not with Huntington's. I don't want to follow her down that path. Sometimes it's so surreal, it's scary." And for many with or at risk for the disease, hope remains for them and their children in the late onset factor. "My siblings, who have children, did think about it and weighed the odds," Maryann explains. "They're really saying now, since they've isolated the gene, that maybe within another five years ..."
Beth explains, "If I get it, I'd be willing to participate in experimental testing. There's a lot of hope out there, I just wish they'd hurry up." Maryann and Beth explain there is help for those at risk of Huntington's, in the form of support groups, which help victims and their families cope with the emotional stress of the disease. However, they say not everyone chooses to share their feelings. "I ran a support group for a year and my own family didn't come," Beth says. She and Maryann attempted to form a south suburban support group, which ended through lack of support.
The Illinois Chapter of the Huntington's Disease Society of America distributes literature on the disease, produces a newsletter and sponsors fundraisers. It also acts as a support system, Maryann explains. "The board raises a lot of money and sends it to the national organizations," she says. "We're all volunteer staff. We get a lot of calls from people just diagnosed with HD. It's really an informal support group. There are board members who have HD, and most of us live with someone at risk. There's really a lot of sharing."
Although each person affected by Huntington's, directly or indirectly, handles it in their own way, there are universal questions confronting each. "Even though it affects everyone so differently," Maryann says, "your body and your brain go -- what else is there?"
Watching the disease is especially difficult for those closest to the victims. Beth describes visiting her mother in the hospital in the last days. "We'd be quiet on the way up, and quiet on the way back, and in between you cry a whole lot and try to make some sense of it. The hardest thing, honestly and selfishly, is not having my mother. I couldn't talk to her about boys and things and just life. She didn't like to go out, because she was very self-conscious about how she walked," she says.
Maryann expresses similar sentiments. "One thing I miss is now I'm the parent and she's the child. There's just no memories there," she says. "And I look at my two nieces and they're never going to know her, even though she's still here," she adds. "It's so slow." What remains is the ultimate question plaguing every person at risk of Huntington's Disease. "And then," Maryann says, pausing, "it's like looking in a mirror, thinking this could be me. With four siblings, chances are two of the four of us will get this, and we'll just have to keep going through this again and again."
More information is with the HDSA Illinois chapter at (708) 443-9876.
(Editor's Note: Local victims of Huntington's disease asked for anonymity for various reasons. Dimensions respected their request.)
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Last updated: Dec. 4, 2010