Vanderbilt Health’s Huntington’s Disease Program, which is based within a collaboration between the Divisions of Movement Disorders and Cognitive and Behavioral Neurology, is both a center of care and a bastion of hope for patients.
The clinic is part of a collection of subspecialties that work together to treat movement disorders, including Huntington’s disease (HD), multiple system atrophy (MSA) and progressive supranuclear palsy (PSP). This network of tightly focused care centers gives patients a home base at Vanderbilt University Medical Center as they undergo treatment.
Leading organizations dedicated to the advancement of care in their respective fields have recognized a number of the subspecialty centers for their comprehensive care, including designation as a Center of Excellence by both the Huntington’s Disease Society of America and Mission MSA, and designation as a Center of Care by CurePSP.
The Huntington’s Disease Program is led by new co-directors Amy Brown, MD, MS, assistant professor of Neurology, and social worker Spencer Diehl, LCSW. Brown also oversees critical research into multiple diseases, including HD, MSA and PSP.
“The ability to treat patients experiencing each of these disorders under one roof is incredibly rewarding,” Brown said of the network of subspecialties. “We’re able to pool our resources and provide care from multiple angles as our patients navigate their treatment.”
The clinic is home not only to specialized practitioners who treat neurological disorders, but also to speech therapists, specialty pharmacists, a genetics counselor and social workers like Diehl.
Huntington’s disease is of particular importance given that the inevitability of the disease can have a significant psychological impact on patients. Until a cure is found, the nature of HD means that if a patient inherits it from a parent, they will eventually begin to experience its effects. And as Diehl described, support from social workers can greatly benefit those navigating life with HD.
“We know that there’s this psychological and psychiatric impact from a pretty early age, even just from exposure to the disease,” said Diehl. “So, in terms of social work, I view my responsibility as identifying and addressing any of those mental and behavioral health needs.”
Diehl added that part of his role includes resource connection. As HD symptoms can pose difficulties for patients in settings like the workplace or in accessing disability benefits, the help of a social worker can prove invaluable in helping a patient take the appropriate actions in their daily life while also ensuring they don’t feel alone.
Most often, patients who inherit the gene mutation that triggers HD begin to experience symptoms around the middle of life, although they can present sooner or later. While treatments exist to address the effects of this incurable disease, patients still find their quality of life impacted by movement, cognitive and mood abnormalities.
Many people with a family history of the disease are also understandably hesitant to learn early whether they have the gene mutation that will eventually trigger HD. The psychological toll of waiting for the inevitable onset of symptoms can be significant, Diehl said.
“There are a lot of people who think, ‘I don’t want this thing, and I don’t want to be hampered with it right now because I’ve seen what it’s done to my family already,’” he said. “If I were in my early 20s and didn’t necessarily want to be thinking about this and wanted to go about my life until I have to know that information, maybe I would also say I don’t want to come into a center for care. It’s a tricky balance.”
However, the clinic seeks to reach patients of all ages to educate them about their disease and provide opportunities to participate in studies, which can be done without revealing to a research participant whether they have the HD gene mutation.
“We’re trying to figure out how to get younger patients into our research space so that they know about the studies they might have access to and will be more comfortable with research and with us,” said Brown. “We’re trying to recruit patients with HD, but now we’re also trying to get their children or grandchildren to come to Vanderbilt and get more comfortable with research and help expand our knowledge.”
Many families with a history of HD are enthusiastic about supporting the larger community affected by the disease, Diehl said. Participating in research is an avenue that allows those families to contribute to the greater good.
These studies often recruit younger patients, including adolescents. As research and treatments advance, some doctors, including Brown, are considering that the benefit of receiving HD treatment earlier in life may outweigh the potential psychological distress of an earlier diagnosis.
“The reality is that we’re going to have to start trying to get [patients] into studies at 25 or so, or on treatments,” Brown said. “If the treatments work, we’ve got to do it sooner.”
“There’s a lot of miscommunication still out there that there’s nothing to be done for Huntington’s disease,” she added. “We have a lot more treatments now, and we’re trying to work on things to slow the disease course. MSA and PSP also have expanded treatment options, and there is hope for disease-modifying therapies for them as well. I think it’s really important to continue to advertise that.”
