In December of 2004, HOPES team members Kim Taub and Jia Hou visited Washington University in St. Louis, Missouri to get an inside view of an HDSA Center of Excellence. They met with Melinda Kavanaugh, a social worker in the Department of Neurology Movement Disorders Section, and Dr. Samer Tabbal, a neurologist.
Washington University Medical Center has been named a Center of Excellence by the Huntington’s Disease Society of America (HDSA). The HDSA recognizes those centers that provide excellent care for people with HD, participates in community outreach, and conduct research and clinical trials. Washington University serves more than the people of St. Louis; it reaches out to much of the Midwest.
Caring for HD^
The Center consists of a team of specialists, including several neurologists, a neuropsychiatrist, a social worker, a genetic counselor, and an occupational therapist. It is important that they approach their patients as a team because of the complicated nature of HD; people with HD often have several distinct medical complications that require specialized attention. For example, a neurologist may be able to help with choreonic (jerky, uncontrollable) movements, while a psychiatrist or licensed clinical social worker can assist in coping with potential psychological issues. A patient may also want to talk to a genetic counselor if he or she is considering having children. No single person is qualified to deal with all the facets of this disease. Consequently, it is best to approach and treat people with HD using a team of specialists who work together.
Melinda Kavanaugh, the Center’s social worker, met with Taub and Hou to explain how things work at Washington University. The team sees patients every Wednesday. Since the Center is located in the Movement Disorders section of the Department of Neurology, the team sees not only people with HD, but also people who have other diseases resulting in motor problems. Overall, the team sees about 2 to 8 people with HD each week. When patients come in, they first see Melinda to undergo cognitive testing using the Unified Huntington’s Disease Rating Scale (UHDRS).
Above: Social worker Melinda Kavanaugh next to the UHDRS computer.
Melinda made an important observation that is perhaps overlooked by the general population: “Primarily, I think this is a psychiatric disorder.” She explained that, most of the time, people with HD are not even aware of the erratic movements that they have. Instead, the things about the disease that bother them most include changes in mood, depression, the inability to control anger, and the frustrations arising from not being able to work. Because patients seem to be bothered most by mental as opposed to physical problems, the Center team focuses primarily on psychiatric and psychosocial aspects of HD. (Psychosocial is just what it sounds like; it involves how psychological aspects can affect social aspects of one’s life and vice-versa.) Rather than treating the movements right away, which they feel has historically been a huge mistake, the team instead focuses on family involvement, communication, and starting a chain of advocacy. They emphasize the importance of establishing good communication to prevent divorce and abandonment, which occur when family members do not understand their loved ones’ condition.
After seeing Melinda, the patients see Dr. Tabbal, a neurologist, for evaluations and referrals to occupational, physical, and speech therapists. Because HD can have a profound effect on a person, team members always recommend that their patients see a general therapist as well.
Besides seeing patients, the Center is especially active in reaching out to the greater HD community. Since the Center does not have its own HD facility, the team must attempt to reach “outside the clinic.” It is very difficult to find the type of specialized care offered at Washington University in the surrounding rural areas. Melinda and her coworkers therefore focus on extending care and education to these underserved areas. They travel to nursing homes to teach caregivers about HD and how to more effectively care for their patients. They also provide family and community outreach by placing ads in local papers and on local radio stations in rural areas, as well as by creating support groups to target these otherwise isolated populations.
Melinda explained that Dr. Joel Perlmutter, the Center Director, recognizes that the main impact of HD is psychosocial, that it can impede the socioeconomic development of families with this disease. This problem is especially devastating in farming communities with a tradition of large families. Large family sizes may result in concentrated clusters of HD, such as those found in southern Illinois.
Research at Washington University^
An important part of what makes the Washington University Medical Center a Center of Excellence is its participation in research on HD and clinical trials. Center Director Dr. Perlmutter has conducted much research on movement disorders. Dr. Perlmutter has published at least 100 articles in the past 20 years, the majority of which relate to Parkinson’s disease. (For more information on how Parkinson’s and HD are related, click here.)
Patients who come to the Center also have the opportunity to participate in national clinical trials. Two recent clinical trials are PREDICT-HD and the OX-Phos Study. PREDICT-HD is an observational study that tracks the progression of people with HD over the course of four years. When the participants come in for their visits, they undergo cognitive testing, MRI (Magnetic Resonance Imaging) scans of the brain, and a motor evaluation. The goal of this study is to find neurobiological predictors of HD; they are looking for some readily identifiable sign in the brain that will indicate the progression of HD.
The OX-Phos Study is named for oxidation-phosphorylation, a very important step in cellular energy production. This study examines people who have tested positive and negative for HD, but have not started to have symptoms or only have very mild symptoms. This study involves one or two patient visits to compare how people with HD use sugar and oxygen in the brain differently from people who don’t have HD. This study is important because it is known that the altered huntingtin protein causes problems with energy metabolism. By studying how oxygen and sugar (important ingredients in creating usable energy in the body) are used in the brains of people with HD, researchers can better identify metabolic problems and develop treatments to address them. (For more information of energy metabolism and HD, click here.)
Neurology at Washington University^
There are 400 people who work in the neurology department at Washington University. Dr. Tabbal, one of 40 clinicians at the Center, is also founder of the first HD clinic at the University of Arkansas. He is proud of the university’s prestige in the field: Washington University receives between 6 and 7 percent of the annual funding given by the National Institutes of Health (NIH), or roughly 22-23 million dollars.
Remarkably, the Positron Emission Tomography (PET) scanner was invented at Washington University. Although the original scanners were enormous, the ones used today are only slightly larger than the subjects that go in them, usually people and larger animals. PET scanners are a major research tool at the Center, something that distinguishes Washington University from other research labs.
Before PET was invented, researchers could only infer information about the brain through dissections after death and animal studies. PET allows researchers to track the function of the brain of a living, alert subject. To do this, a very small amount of a radioactive substance that is similar to a substance already found in the body is injected. As any radioactive substance decays, it emits particles called positrons. The scanner then picks up these positrons as the radioactive marker in the subject’s brain decays.
The specific kind of marker used depends on the area or function of the brain being studied. For example, a researcher studying glucose metabolism in the brain will inject a substance similar to a normal glucose molecule, but with an added radioactive fluorine atom, called TRIUMF. To study blood flow to various areas of the brain, radioactive water or 6-F-dopa is injected. The amount of radiation a subject is exposed to is typically less than he or she would be exposed to during an X-ray. Unlike X-rays, however, which produce only a shadow image, PET scans allow doctors and researchers to track changes in the subject’s brain as various cognitive tasks are performed.
Information gained from PET scans and genetic testing have contributed immensely to the growing body of knowledge on HD. Since 1992, when genetic testing became available for HD, scientists have been “learning exponentially” about the condition. Dr. Tabbal cautions that this knowledge must be used wisely.
“[Pharmaceutical companies] have a library of compounds,” says Dr. Tabbal, “Many are not FDA regulated. They are also expensive and ineffective, and we have little knowledge of their long-term effects. The difference between Western medicine and sorcery is that with Western medicine, we do research and experimentation to find out if there is validity to a drug’s proclaimed effect. Unfortunately, most of these drugs are more witchcraft than medicine.”
A drug that has recently gained publicity is Coenzyme Q-10. Q-10 supposedly prevents changes in nerve cells’ oxidation-phosphorylation, a normal metabolic process. These changes are believed to contribute to apoptosis of nerve cells, or nerve cell death. In clinical trials, only doses of 1200 mg have been shown to have any marked effect on persons with HD. Even then, the benefits are few. Dr. Tabbal points out that many people still pay a lot of money for doses of 50-100 mg.
According to Dr. Tabbal, the research conducted at the Washington University neurology department focuses on phenomenology, which means putting a great emphasis on understanding the process of disease rather than merely recording results. Otherwise, treatment becomes a shot in the dark.
Dr. Tabbal jokes, “There are more supporting staff [like Melinda] than doctors in the Movement Disorders department.” This high ratio of supporting staff to doctors is for a good reason. Like Melinda, Dr. Tabbal believes that HD is mainly a psychiatric disease which requires counseling as much as, if not more than, medical intervention to treat.
Dr. Tabbal is a friendly, upbeat doctor who has come close to experiencing the effects of HD firsthand. Every summer, he participates in a five-day camp for people with HD at Columbia University. Everything at the camp caters to people living with HD: the cabins are ergonomically designed and the daily schedule is highly structured and detailed.
“When you are surrounded by people with Huntington’s, you become the odd one,” Dr. Tabbal says. “It is the only way you can really understand what’s it’s like. You understand why it takes so long to dress, how they fall.”
Dr. Tabbal believes that a good support system, physical therapy, relevant medicines, and the right attitude should be the foundation of treatment. He believes that there is hope after a diagnosis of HD. People at risk for HD should not be afraid of what the doctor might say because, after all, the diagnosis is the first step in treatment. Dr. Tabbal adds his final piece of advice with a smile, “Make sure you see a good doctor.”
For further reading^
- To find out more about HDSA Centers of Excellence, visit http://hdsa.org/about-hdsa/centers-of-excellence/.
- To find out more about the Washington University Center of Excellence, visit the website at https://neuro.wustl.edu/patient-care/movement-disorders-2/huntingtons-disease/.
- To find out more about PREDICT-HD, visit http://clinicaltrials.gov/ct/show/NCT00051324?order=1.