Karen Anderson, M.D., is director of the Huntington Disease Care, Education and Research Center (HDCERC) at MedStar Georgetown University Hospital in Washington, D.C. Community recently interviewed Dr. Anderson about the challenges of access to care and genetic testing and counseling for Huntington’s disease patients and family members.
What are some of the issues with access to care for Huntington’s disease?
In many areas, the biggest issue with access to care is geography. In most communities, it is hard to find physicians with experience treating Huntington’s disease. Families and patients often have to travel very far to see an HD specialist.
Our center at Georgetown is the first of its kind in the Washington, D.C. metro area. In addition to our monthly clinic at Medstar Georgetown University Hospital, we also have a satellite clinic in Olney, Maryland and have plans to expand to McLean, Virginia in early 2014. This gives patients closer, more accessible care.
The other major issue that limits access to care is insurance. Because the average onset of HD tends to be mid-career, patients often find themselves out of work and uninsured.
The Social Security Disability guidelines for HD have not been updated in over 30 years, and do not include some of the earlier cognitive symptoms that limit ability to work early on. A person with HD may go through many appeals and spend years trying to get disability. Once they are approved for disability, there is a 24-month waiting period for Medicare benefits.
Our center joins the Huntington’s Disease Society of America (HDSA), the major patient advocacy organization for HD in the United States, to lobby for the Huntington’s Disease Parity Act, which would address these issues for many.
How can caregivers and patients overcome the challenges of not having close access to experienced care for Huntington’s disease?
They can start by reaching out to their area’s HDSA social worker. The HDSA website keeps a list of community physicians online that have been known to see people with HD. Both the list of social workers and doctors are available at HDSA.org.
If there is no one near them, then the best recommendation is to find a physician in the community that is willing and able to take the time to work with the patient. HDSA published “A Physician’s Guide to the Management of Huntington’s Disease” meant to assist in these situations. The National HDSA office can be contacted to send a copy. HDSA social workers, or a social worker from an HD Center are also available to help provide education and services to help with the care.
Who should be tested for Huntington’s disease, and when?
Being tested for Huntington’s disease is a very personal decision. Individuals will choose to get tested for a variety of reasons, from family planning, to planning for the future, to confirming that symptoms are in fact HD.
A physician may recommend testing to confirm symptoms, especially when someone has no known family history of HD, or they have a family history, but no one is their family has ever had confirmatory testing.
What does the test for Huntington’s disease involve?
The test itself is a simple blood test, but it does need to be sent out to a specialty lab; however the process to get tested is a little more involved. If a person is pre-symptomatic there will be a series of visits that include meeting with a genetic counselor and social worker, as well as evaluations from a psychiatrist and/or a neurologist. In some cases memory testing will also be recommended.
It is important for the person choosing to be tested to be well informed by the care team about HD and have time to process their decision before ultimately being tested. Once someone receives genetic test results, the information cannot be taken back.
For someone with suspected HD symptoms, testing is generally coordinated through his or her physician. Consultation with a genetic counselor can also be helpful in these cases.
What are some of the issues with family communication about Huntington’s disease and genetic testing, and what strategies might be helpful in addressing those issues?
In past generations, families were not always open about the family history of HD, so when someone started to show symptoms, it was a shock. It is good to encourage patients to be as open within their families as possible.
It is also good to have a plan before going through the process, or receiving results, so that you know, and your family knows, how, or when, you will choose to share those results. It is usually better not to surprise others with this information.
What type of counseling should those being tested for Huntington’s disease and their family members have?
The person being tested and their family should receive genetic counseling. The person being tested should also see a counselor or therapist, or at least make a connection with one, so that they have the extra support during that time. It can also be very helpful for a family to go to counseling together to address some of the issues.
(Above) MedStar Georgetown University Hospital, Washington, D.C. (Right) Physician George Huntington, who in 1872 wrote a paper describing Huntington’s disease. The condition would later be named after him.
Why are both care of the whole person and care of the family essential with treating Huntington’s disease?
It truly ends up being a family disease. Because of the average age of onset, HD can really turn a family upside down. A spouse/partner may be working full–time, taking care of the children, and being a caregiver.
If we don’t make sure that spouse/partner is taken care of, it can be even more detrimental to a family. This is why our center motto is “Cura Familia”—“Care of the Family.”
Because it is a genetic disease with a 50 percent chance of inheriting it from a parent, often times the caregivers for the person with HD are themselves at risk. For this caregiver that is also at risk, it can take a huge toll on them to watch family member after family member suffer from HD and know that they could be next. By treating the whole person and the whole family, our center is able to provide better care.
What type of Huntington’s disease research is the Huntington Disease Care, Education, and Research Center (HDCERC) doing?
We are a member of the Huntington Study Group (HSG) and are currently a site for their FIRST-HD trial. We hope to begin enrolling people in this study very soon. We also are an Enroll HD site, a longitudinal, worldwide observational study, and hope to being enrolling patients in this study soon too.
Our team also studies patient-reported outcomes—the factors that matter most to patients when looking at potential treatments.
How did your interest in Huntington’s disease develop?
I have always wanted to work with people who have neurological disease. I find the stories of HD families are incredibly compelling and often courageous.
Because the symptoms are so diverse and severe, clinicians can make a positive difference for these families, who are often told there is nothing that can be done for them. This is completely untrue; there is so much that can be done to manage the symptoms and support the families.
HD is also entering a phase when the clinical trials to find treatments are very exciting and novel. I can think of no higher privilege than to work with these incredible families over multiple generations.
CONTACT INFORMATION
MedStar Georgetown University Medical
Center Huntington’s Disease Care, Education
and Research Center (HDCERC)
3800 Reservoir Road, N.W.
Pasquerilla Healthcare Center (PHC)
Washington, D.C. 20007
Website: http://neurology.georgetown.edu/research/hdcerc
Appointment line: 202-444-0816