In the summer of 2005, HOPES researchers Jia Hou and Clare Tobin visited the HDSA (Huntington’s Disease Society of America) Center of Excellence at Columbia University in New York, NY. Hou and Tobin would like to thank everyone at the center for taking the time to speak with them on an especially busy day. They would also like to thank the patients who gave such candid interviews and permitted us to observe their evaluations. To visit the Columbia center’s website, click here.
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The HDSA Center of Excellence at Columbia is a highly specialized program. It is primarily a clinical facility, but medical research is a very important part of the center’s mission as well. When patients come to the center, they are screened as possible participants for the many HD-related research studies that are conducted elsewhere in the hospital. Patients may choose whether or not to participate; either way, they receive high quality care.
Because HD is such a complex disease to manage, the center provides many different kinds of specialists and medical services. Hou and Tobin were able to meet several members of the center’s interdisciplinary team, including:
Karen Marder, MD, MPH – Neurologist (and Center Director)
Mark Groves, MD – Psychiatrist
Jeanne Thomson, MS, CCC-SLP – Speech Therapist
Ashwini Rao, Ed.D, OTR – Occupational (and Physical) Therapist
Deborah Thorne, LCSW – Social Worker
Jennifer Williamson-Catania, MS – Genetic Counselor
Paula Leber, MA – Research Assistant
To read more about these staff members and the rest of the staff, click here.
A significant part of the center activities revolve around people who are at risk for HD, but are not symptomatic. These people have a family history of HD, but do not know if they carry the HD allele. One way to determine this is with predictive genetic testing. (For more information on testing, click here). For issues surrounding predictive testing, Hou and Tobin spoke with Jennifer Williamson-Catania, the center’s genetic counselor. More information on this topic will be discussed later in the chapter. In the meantime, the focus will be on the organization of the center and how it helps those with HD.
HOPES visited the Columbia center on August 19th, 2005 to observe one of their monthly clinic days. On these special clinic days, many patients come into the center. The team of specialists that comprise the center’s comprehensive care program will then re-evaluate each patient’s disease progression. On their first visit, patients meet with the entire team of specialists, and then usually come in two times each year after that. Patients may come in more often, depending on the progression of their condition. The medical team consists primarily of a psychiatrist, neurologist, speech therapist, occupational/physical therapist, and social worker. The team meets with each patient (and usually his or her primary caregiver) to examine the patient’s current health status. The patient may then meet with individual specialists to discuss specific adjustments to treatment and lifestyle. For example, speech therapist Jeanne Thomson may recommend getting speech therapy a few times a week for a number of months. Speech therapy can help with communication, especially over the phone, as well as problems with eating. It is very important to address eating issues because coughing, choking, and aspiration pneumonia are serious concerns for people with HD. (For information on aspiration pneumonia and other complications of HD, click here). For patients that do not live near the center, Ms. Thomson refers them to therapists who work in their area. There is a similar procedure for physical therapy and other forms of therapy. The team may prescribe medications that alleviate symptoms, but there is no medication that can treat the disease itself. In general, the team recommends against taking any kind of dietary supplements for the purpose of treating HD.
For all patients, care at the center is free of charge. This situation certainly eases the burden on families, makes it possible for patients to receive the care that they need without financial constraints, and better protects confidentiality by avoiding involvement with insurance companies. However, patients still face other costs, such as hiring home health care aides or receiving treatment for other conditions. For these reasons, the center is quite concerned with health insurance issues. The people at the center help patients figure out how to afford the other aspects of their care by considering alternative resources, such as Medicaid, Medicare, and disability insurance.
Resources and Support^
The center provides many resources beyond those of standard clinical care. There are many specialists available for consultation, as well as other HD patients for mutual support. The center has a large body of HD-related literature for patients to read. There is an at-risk support group and an early-to-middle stage patient support group that each meets once a month at Columbia. Other support groups meet at different nearby New York locations. The center takes part in many events throughout the year that raise money for HD research, from amaryllis bulb sales to a BMW sweepstakes and “Hoop-a-thons.” Hou and Tobin were fortunate during their visit to meet a young boy and his family who helped raise a large sum of money for HD research; they were inspired to coordinate such an effort because of a neighbor that had been affected by HD. (For more information on upcoming events at the center, click here).
Another way that the center improves the lives of people with HD is through their annual camp, which was started in 1993. During the summer, 14-18 patients spend a week in Cornwall-on-Hudson, NY with camp staff. Many members of the camp staff also work at the Columbia center. At camp, everyone takes part in all sorts of activities, from singing to horseback riding to pool volleyball. This special week gives patients a chance to have fun, spend time with others who understand what it is like to have HD, and bond with people from the center. The week also provides a well-deserved vacation for caregivers. (For more information on the HD Summer Camp Program, click here).
Though the Columbia center is primarily a clinical facility, they also conduct important medical research. Patients often choose to become involved in research studies or clinical drug trials to help advance scientific knowledge about HD. Because HD tends to run in families, many patients are particularly concerned about finding effective treatment, even if not for themselves. During the HOPES visit, Hou and Tobin were able to observe the preliminary stages of a research project that uses fMRI scans to try to find early changes in the brain that are associated with HD. The study compares the scans of presymptomatic and symptomatic individuals (people who have HD) and controls (people who do not have HD). Several patients from the center volunteered for the scans, and several of their spouses volunteered as controls.
Hou and Tobin were also invited to sit in on a lunchtime presentation given by a Columbia medical student who had been researching HD. First, he discussed dietary supplements and HD. There have been many reports about the effectiveness of various supplements in combating the progression of HD. Sometimes these reports are exaggerated by people outside of the medical community who are well-meaning but impatient for a cure. The student’s presentation showed that, while some supplements show promise, there is no evidence of benefits at this time. This is why the center’s team recommends against taking supplements for the treatment of HD. (For more information on dietary supplements, click here). Hou and Tobin were proud to note that the information in the presentation had already been evaluated and posted on the HOPES website prior to their visit.
The second part of the presentation was about driving and HD, a common and serious concern for patients and their families. At a certain point in the progression of the disease, it may no longer be safe for people with HD to continue to drive. However, this can mean a loss of independence and self-sufficiency, which makes it a very difficult decision. If there is concern about a patient’s ability to drive, the team may recommend an independent driving evaluation. Though many people with HD continue to drive successfully for a long time, driving and HD is a very important issue which needs to be more widely discussed in the HD community.
Bridging the Medical and Social Aspects of HD Care^
In addition to managing the physical symptoms of HD, a good clinical facility also needs to consider the psychosocial and overall well-being of its patients. What sets the Columbia center, and other Centers of Excellence, apart from standard treatment is how the teams there provide comprehensive care. In addition to making a diagnosis, assessing symptoms, and recommending treatments, the clinical team considers factors such as a patient’s access to continuing care, sources of funding, and concurrent medical conditions.
The center’s team also helps patients make informed decisions about various aspects of their lives, while respecting their autonomy. For example, it can be very difficult for someone with HD to give up daily activities like driving, but these decisions eventually need to be made. Yet it is difficult to determine exactly when to make these decisions, given the gradual progression of the disease. Comprehensive, individualized care from the team can help people with HD and their families make important decisions.
Families affected by HD must also make decisions about predictive genetic testing. Genetic testing reveals whether a person has the HD allele, and thus whether he or she will eventually get HD. In order to make an informed decision, people need to have as much knowledge and guidance as possible. The Columbia center’s genetic counselor, Jennifer Williamson-Catania, informs at-risk individuals about the facts of genetic testing and the meaning of HD risk factors. She also makes them aware of reproductive options, such as pre-implantation genetic diagnosis (PGD). (For more information on PGD, click here). Though Ms. Williamson-Catania lays out all of the potential outcomes and alternatives to be considered, she emphasizes that she does not provide any easy “answers” or “solutions.” She is careful not to let her personal values influence the advice she gives, as the decision to be tested is a very serious one, both for the individual and for his or her family. The possibility of a genetic test only further shows how important a full range of support is for families with HD. (For more information on testing, click here).
Over the course of their visit, Hou and Tobin were impressed with the devotion and versatility of the center’s team. It was a busy day and the center was sometimes caring for four different patients at once. Yet the team still took the time to patiently answer questions from the HOPES researchers. While Ms. Williamson-Catania showed Hou and Tobin the fMRI room and discussed the difficulties of genetic counseling, she also managed to hurry back to the reception room intermittently to greet patients that had just arrived. Watching the team members in action showed the energy, attention, and empathy they had for their patients. Indeed, the patients had only positive things to say about the care and the sense of community that they experience at the center. It was clear to the HOPES researchers that the Columbia center is a model for the comprehensive care of HD.