Title:Compassionate care for Huntington’s disease patients

The challenges of an ‘orphan disease’

Huntington’s disease is a genetic brain disease that “causes deterioration in a person’s physical, mental, and emotional abilities, usually during their prime working years,” according to the Huntington’s Disease Society of America (HDSA).

HD is considered an “orphan disease” because it is rare and thus suffers from a lack of resources committed to both clinical care and finding treatments. The genetic change that causes HD was discovered in 1993, and while there are many clinical trials at this time, there’s nothing available to change the course of the disease.

Early symptoms may range from the inability to stay on task to depression, anxiety, irritability, and anger. As a result, diagnosing HD is often difficult, and in some cases, familial relationships may be strained even before the establishment of an official diagnosis and care plan.

Later symptoms include more pronounced personality changes, as well as impaired judgment, involuntary movements, slurred speech, and difficulty swallowing, so full-time care is often required.

For long-term, debilitating diseases like HD, it’s essential to provide the families of patients with resources and support.

“HD patients require a sophisticated level of care,” shares the anonymous donor. “It’s complicated because there are a lot of moving parts. We need to know there are people we can call that day for help.”

Cura familia—care of the whole family

Designated as a Center of Excellence by HDSA, Georgetown’s center serves District of Columbia, Virginia, and Maryland patients and caregivers. The center’s motto is cura familia—care of the whole family—which closely aligns with the university’s Jesuit values.

The center offers a collaborative approach for optimal care. Patients receive access to a neurologist, neuropsychologist, neuropsychiatrist, speech therapist, and occupational therapist, as well as clinical trials for emerging therapies. Family members receive support from a full-time social worker and genetic counseling from a geneticist.

The team even helps families with the daily logistics of patient care including disability applications, placement in long-term care facilities, and training facility staff to care for people with HD.

A 2019 study by Price Waterhouse Coopers (PwC) concluded that 65% of HD care needed by patients and families happens outside the clinic. They recommend patient engagement as well as integrated community care – two essential components in Georgetown’s approach (Anderson et al, 2019).

“You don’t want to know”

An HD diagnosis is often life-changing news for a family, in part because the patient requires constant care and in part because there’s a 50% chance that the patient’s children have inherited the gene.

According to PwC’s study, as many as 70% of those with HD aren’t getting specialized care because they don’t realize that they have it, are in denial, or don’t have access to a HD specialty center.

Doctors used to say to families “you don’t want to know.” Now there’s some reason for hope. Now doctors say “you need to know but the question is when.” Georgetown provides counseling for the sons and daughters of HD patients as they decide whether they want to do genetic testing.

The education and outreach build a stronger support system on the home front and help lower the percentage of “invisible” HD sufferers.

Quality of life has a ripple effect

Georgetown’s holistic, 360-degree care model is unique.

“Providing care for the extended family builds both trust and gratitude,” explains the anonymous donor. “When my wife was first diagnosed, I didn’t know what to do. Neither did the doctors we saw or the caregivers we hired.”

His gift to start the center and the arrival of Dr. Anderson have had a ripple effect – within his family and the larger HD community.

“I’m grateful to Georgetown for walking this journey with me,” he said in a recently published interview. “My home life has improved in recent years. My wife and I are now able to spend better quality time with our children, grandchildren, and friends.”

“Most donors give to research but I wanted to focus first on patients and families,” he adds. “There’s a reason that the center’s name starts with ‘Care and Education.’ Both are needed to improve the patient’s quality of life and the Center’s research.”

Better care leads to better research outcomes

Dr. Anderson, HD-CERC director and professor in Georgetown’s Department of Psychiatry and Department of Neurology, explains that when patients are less emotionally volatile, they are eligible for more treatment options and can be part of the research to find a cure.

“HD can be traumatic, for the patient and the whole family,” explains Anderson. “We don’t want families to be in disarray. What happens at home makes a difference. Patients who are stable can participate in research studies.”

There are seven clinical trials or observational studies for HD patients at Georgetown. This level of activity is a result of the HD-CERC’s research reputation, the level of care it provides, and the high retention rate.

“We need more donors focused on care,” explains Anderson, “because that philanthropy covers the unpaid time many members of an HD center contribute to supporting patients and their families. Providing good clinical care enables us to move the science forward.”

Learn more about Dr. Karen Anderson and the Huntington Disease Care, Education, and Research Center at Georgetown >

Make a gift to support Georgetown’s “cura familia” approach to Huntington’s Disease >