Wouldn't it be scary to know that you have a 50 percent chance of having a fatal disease, but not know for sure until you were 40?
What if someone told that you could know for sure if you wanted to. Would you take the test?
Would you still take the test if you knew that most people start to experience symptoms 15 to 20 years before they die?
Such philosophical questions are the harsh reality for individuals who have a parent with Huntington's disease.
There are 30,000 people who have HD in America and another 150,000 people who are "at risk" for the disease because a parent has been diagnosed.
Huntington's disease is a dominant genetic disorder that affects males and females equally.
It is caused by an expansion of a normal nucleotide repeat in a person's DNA. Most often, people who carry the disease gene show no symptoms until midlife.
At that time, the disease hits hard in three major areas. There are cognitive and memory impairments, emotional problems like depression or impulsiveness and motor disturbance.
The motor symptoms, called chorea, resemble uncontrollable dance-like movements, which worsen as the disease progresses.
There is no prevention or cure for Huntington's disease; physicians can attempt only to alleviate the symptoms.
HD can tear families apart. The burden on the family is enormous, as the descent into the disease is a slow, drawn-out process.
There always is fear about who in the family may be affected next.
One case of HD-related familial strife made national headlines last June when caregiver Carol Carr shot and killed her two sons, Andy and Randy Scott, both of whom were afflicted with HD.
Family members said she was unable to bear the suffering.
The sons, aged 41 and 42, were in their shared room in a nursing home in Georgia at the time, unable to speak or communicate.
Carr's husband, Hoyt Scott, learned he had the disease after he and Carr already had three sons. Their surviving son, James, is in the early stages of the disease.
Experts say that, although this level of violence is not the norm, the despair this family faces is not unusual.
"The family has to come to terms with the changes in the person with HD as the individual's abilities diminish. The personality of the affected person may change dramatically and behavior may become difficult to live with," University Hospital Genetic Counselor Patricia Allinson said.
Allinson works in the predictive testing program at the University. She urges caution about the decision to be tested for the HD gene for both symptomatic and "at risk" individuals.
"This is not like other lab tests because of the nature of the implications of a positive result. It is not appropriate to test children for this illness; each child should have the freedom to consider the pros and cons of testing for him or herself as an adult," she said.
Counseling is required before the DNA testing can be done, and many people decide to pay for it themselves rather than let their insurance companies know the results of the test.
Finding out that you have a disease that has no cure is not something to be taken lightly. In fact, most people who are "at risk" decide against taking the test.
Teresa Lewis, 38, has a family history of Huntington's. Lewis can chronicle the difficulties her family has had, beginning with simply receiving the correct diagnosis in the first place.
Doctors sometimes are not aware of the HD and misinterpret the symptoms as Parkinson's disease, Alzheimer's disease, depression or, in Lewis' mother's case, co-dependency.
After her diagnosis, Lewis' mother began seeing a neurologist at the University and she now attends the HD clinic.
Although she chose not to have the DNA test, Lewis herself said she has been feeling changes due to HD for about six years, beginning with muscle twitches.
"The most important thing is counseling and a support system because there's a lot of ups and downs," she said. "Families need understanding and they need compassion."
Great progress has been made to understand the nature of the disease since the gene responsible was discovered in 1993.
The University has several labs working on HD, including that of Scott Zeitlin, in the Department of Neuroscience in the School of Medicine.Zeitlin's work concentrates on the normal function of a protein called huntingtin, which is the protein made by the HD gene. Little is known about normal huntingtin protein actions inside the cell and this research could reveal more about how the disease process works.
Heidi Scrable's lab, also in the Department of Neuroscience, is making a mouse model of HD. When completed, this model could allow the defective Huntington protein to be turned on and off by administration of a chemical.
Although the chemical cannot be used as a treatment in human HD, this project will show if pathology is reversible late in lifeand could help determine where the HD pathology originates.
University researchers in HD have a monthly journal club that meets to discuss current HD literature, projects and collaborations between labs.
The University also holds a multidisciplinary HD clinic once a month for HD patients and their caregivers, which provides access to psychologists, speech therapists, physical therapists, occupational therapists and neurologists, as well as support groups.
The clinic stemmed from the need for knowledgeable health care providers, in appreciation of the fact that many health care professionals have never seen a case of HD.
Madeline Harrison, the University neurologist who directs the HD clinic, stresses the clinic's importance to both the families and the community. "Even in the face of this difficult and overwhelming illness, much can be done to support the patients and families," Harrison said. "The difficulties of the illness are compounded by the lack of awareness that prevents patients and families from getting help ... resulting in a tremendous need for both public and professional education."
The program is supported by the Huntington's Disease Society of America and is one of 25 Centers of Excellence nationwide. Families drive from surrounding states as far away as Tennessee in order to attend the clinic. If individuals are unable to travel, the clinic holds sessions via telecommunication mediums.
Fundraising efforts are underway in Charlottesville to help support the clinic. There are plans to hold a Hoop-A-Thon in late April, where individuals will solicit pledges for shooting baskets.
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