Even with a disease that has no known cure, hope exists. That’s a point of agreement for a former globetrotting television journalist and a University of Cincinnati (UC) neurologist.
Ex-newsman Charles Sabine and Fredy J. Revilla, MD, James J. and Joan A. Gardner Family Center for Parkinson’s Disease and Movement Disorders Chair in the UC College of Medicine, have a shared interest in Huntington’s disease, an inherited progressive brain disorder—Sabine as a carrier of the gene for Huntington’s and Revilla as director of the Gardner Center for Parkinson’s Disease and Movement Disorders at the UC Neuroscience Institute, one of four institutes affiliated with the UC College of Medicine and UC Health.
Their interests will converge at 5 p.m. Thursday, Sept. 27, when Sabine presents a special seminar in the Medical Sciences Building’s Kresge Auditorium titled, “The Pursuit of Hope and Dignity: Why Every Link in the Medical Chain Matters.” The seminar, hosted by the Fellows of the Graduate School and UC’s Center for Clinical and Translational Science and Training (CCTST) is free and open to the public.
According to the National Institutes of Health (NIH), Huntington’s disease is characterized by uncontrolled movements (known as chorea and linked to its former name of Huntington’s chorea), emotional problems and loss of cognition. The adult-onset form usually appears in a person’s 30s or 40s; a less common, early-onset form of Huntington’s disease begins in childhood or adolescence.
Huntington’s disease affects an estimated three to seven per 100,000 people of European ancestry, according to the NIH. (It appears to be less common in other populations, the NIH says.)
“It is relatively common in a movement disorders clinic such as the Gardner Center,” says Revilla. “In addition, there probably are a lot more family members who are at risk for Huntington’s disease than they are aware of because they don’t have anything yet that requires medical attention.”
Since leaving NBC News in 2008, Sabine has continued traveling the world as a spokesman for freedom of scientific research and advocate for sufferers of degenerative brain disease. He has been tested and found to carry the gene for Huntington’s disease, but has not yet developed symptoms.
Revilla says he and his fellow clinicians at the Gardner Center make no recommendations regarding genetic testing for people with a family history of Huntington’s disease. “It’s a very personal decision that each individual should make depending on how it would affect their future life,” he says.
“Some people feel like they need to know, and others don’t want to know that they carry the gene for a disease with no known cure. We support the decision of each individual.”
Revilla says that with no known cure for Huntington’s disease, treatments focus on improving patients’ quality of life, including medication to help control the chorea and medications to treat depression, which is common for Huntington’s patients. Cognitive impairment is more difficult to treat, he says, but treatments are available and patients should discuss them with a clinician.
UC participates in research studies focusing on Huntington’s disease, Revilla says, including an observational study called ENROLL-HD. In observational studies, people volunteer their information or biological samples for the sake of research. No drugs or other therapies are tested.
“We hope this study will answer important questions, such as why do people with the same genetic defect have different ages of onset, and move us closer to a cure,” Revilla says.
As for Sabine, he sees a new purpose in his life and has embraced its possibilities.
“I left my career in journalism because it occurred to me that because of the unique nature of Huntington’s disease, I had a window in which I definitely ‘had’ the disease but was still in command of the faculties my profession had taught me,” he says. “Combined with the fact that Huntington’s disease had never historically had anyone to act as a spokesperson for its silent community, it suddenly became clear that I had a duty to do what I did.
“The most important message that I take to Huntington’s disease families is that the situation is not so black and white for them as they may have thought; there are things that they can do to improve their situation and even lengthen their lives.
“Most important is the relegation of the word ‘incurable,’ which has such a devastating effect on their psyches. Almost nothing in medicine has been ‘cured’—not cancer, not HIV, not influenza, not the common cold. We have merely found ways of managing these diseases. Once we apply the same ambition to Huntington’s disease, then our lot is not so desolate.”
Source: University of Cincinnati