Huntington’s disease not well-known, still strongly affects family

By Christie Succop, Copy Editor

April 11, 2007 | 11:49 p.m.

When thinking of terminal illnesses, most people probably thinks of AIDS, Alzheimer’s disease and cancer. Those three illnesses, which are commonly in the media, share characteristics with a lesser-known terminal illness: Huntington’s disease. So why do people not know about it?

Huntington’s disease and the family

Huntington’s disease is an extremely difficult disease to endure because of all the ties it has with family. If a person is at risk, that means that one of the person’s parents had the disease. If that person has siblings, that means they are all at risk. Not all siblings might end up with the disease, but they all have a 50 percent chance of having it. If that person has children, that person’s children are all at risk as well. It is a never-ending process.

In addition to the genetic aspect, family is all a patient has on which to depend. When a person with Huntington’s disease begins to age and the disease worsens, it becomes the responsibility of the family to care for that person. Family members become the greatest help to a person with Huntington’s disease. However, it is exceedingly difficult to watch a loved one experience the harsh realities of the disease, especially when the ones watching are family members who are at risk.

When parents begin to show symptoms around age 40, children are young or in their teens, according to Dr. Walter J. Koroshetz, deputy director of the National Institute of Neurological Disorders and Stroke. “The children get worried [about having the disease] when they’re around 38 to 40,” he said.

It becomes taxing when children realize they could be in the same situation as their parent. “There’s an added stress for parents watching their kids and kids watching their parents,” Julie Porter, an administrator at the Heredity Disease Foundation, said.

Huntington’s disease strikes most families during the prime of the family member's life, according to Barb Heiman, a social worker at the Huntington’s Disease Society of America Center of Excellence at Ohio State University. “Just when you think you have your act together, you might be married with a family, slowly your life erodes,” she said.

Huntington’s disease and the test

Before it was determined which chromosome in a person’s DNA carried the Huntington’s disease gene, people who were at risk were surveyed. They were asked if a genetic test existed, where they could find out whether they have Huntington’s disease, would they take it? “Most people said they would be tested,” Dr. Koroshetz said.

A genetic test became a reality to the public soon after it was determined which gene carried the Huntington’s disease gene, but interest in being tested declined, according to Dr. Koroshetz, the first person to do the testing. “After the testing was approved, a minority of people actually got tested,” he said.

The decline in interest may have to do with the fact that many risks are involved with being tested for Huntington’s disease. A person has to be secure emotionally, psychologically, physically and financially before he or she can be tested. Professionals familiar with Huntington’s disease recommend that testing occur at a place that deals with the disease on a daily basis, like a Huntington’s Disease Society of America Center of Excellence. “Here [at the Center of Excellence], testing requires meeting with the genetic counselor, the doctor and the social worker,” Heiman said. “That’s the same at all the centers.”

A person has to be ready for all possible outcomes. There may only be two, but they could be the two most important outcomes in that person’s life. If the test comes back positive, a person has to be psychologically stable enough to tolerate that knowledge. “Symptoms may not appear for 10 or 20 years, but it’s always on your mind,” Heiman said.

If the test comes back negative, it does not necessarily mean a person is devoid of the disease forever. If that person has siblings, those siblings are still at risk, and that person might feel guilty that he or she was spared.

Before a person can be tested, a lot of factors have to be examined, like why a person wants to be tested at a particular time, according to Heiman. “If it’s a young person who’s at risk with no job or health insurance, they have to be careful,” she said. “The insurance might not choose to cover that person.”

When it comes to being tested, Dr. Koroshetz recommends that people follow two simple rules: think about it, and go to counseling. “Most people drop out [of being tested],” he said. “[However,] there are people who have done well even when they got a bad answer.”

Dr. Koroshetz also suggests asking, “What is the value in knowing early?” and “What are the problems?” before being tested. “They have to make a list [and weigh their options],” he said. “People can make bad decisions. You can only take the test if you know what to do with the results.”

Huntington’s disease and the world

Huntington’s disease may not be as well-known a disease as AIDS, Alzheimer’s disease or cancer, but its symptoms and effects on a family are just as terrible, if not worse, than those other terminal illnesses. Those who are affected by the disease know just how difficult it can be. However, a strong, underground, Huntington’s disease community exists, and a person does not have to look further than the Web to discover the connections people are making with each other. Online associations, societies and foundations provide an outlet for those affected by Huntington’s disease.

While it is impossible to tell when a cure for Huntington’s disease will be discovered, everyone who is affected by it can only hope it will occur soon. “You have to be lucky,” Dr. Koroshetz said. “Eventually science will get us the answer.”

Huntington’s disease and Ohio State

For those in the Athens area who might be affected by Huntington’s disease, help can be found at a Huntington’s Disease Society of America Center of Excellence at Ohio State University in Columbus. The mission of OSU’s HDSA Center of Excellence "is to provide state-of-the-art medical treatment for individuals with Huntington’s disease, provide ancillary social and psychological support for patients and their families and to contribute to the advancement of research and education in both clinical and basic science arenas," according to its Web site.

The center also conducts research that aids in preventing, diagnosing and treating Huntington’s disease. Research includes “local OSU trials, cooperative group trials and studies sponsored by pharmaceutical companies,” according to the Web site.

Anyone interested in finding out more information about Huntington’s disease or local places of support is encouraged to ask his or her doctor or visit www.hdsa.org.