Fighting Huntington disease
Carolynn Globig was diagnosed with Huntington disease on Oct. 27. The disorder is an inherited neurodegenerative disease for which there is no cure. It causes the progressive breakdown of nerve cells in the brain and has a broad impact on a person's functional abilities, usually resulting in movement, thinking and behavioral disorders.
This diagnosis undoubtedly transforms all of the lives it touches, but Globig is making sure her transformation is at least partly for the better.
“When you have a terminal diagnosis you think of life differently,” she said. “You think about the decisions that you’re making differently and about what will be an eternal decision or an eternal activity versus something that you don’t really need to get done because in the long run it’s not going to make a difference in your life or in someone else’s life. You want to live a life that is meaningful.”
Globig, a 32-year-old nurse, has already watched her mother and late grandfather suffer from the disease — her mother from cognitive decline and her grandfather from physical challenges.
She is still presymptomatic, but is wasting no time in making changes large and small to take control of her life.
She has put her house up for sale, for example, and plans to move closer to work to shorten her more than two-hour daily commute and extend family time with her husband and 3-year-old daughter.
“Regardless of whether you have a terminal diagnosis or not, your loved ones and your family and your friends and your community are what matter in this world,” she said.
A center of excellence
A driving force behind Globig’s outlook is her time spent with the HD program in the Parkinson’s and Movement Disorders Center at Virginia Commonwealth University. The Huntington’s Disease Society of America last month named the VCU program an HDSA Center of Excellence for 2015.
“I am thrilled that our HD program team has earned the HDSA Center of Excellence designation,” said Claudia M. Testa, M.D., Ph.D., director of the HD program at VCU. “Our care team includes people with many years of experience in HD, and now it is easier for families to find us and to feel confident connecting with us.
“This honor also reflects the importance of our patient family community. Their energy and commitment — coming to support group, traveling to clinic, sharing journeys about genetic testing and participating in research — had a big impact on the HDSA decision.”
The HDSA team wrote in the designation letter that it was impressed with the medical and social services the VCU clinic provides to HD families in Virginia and the surrounding areas.
“Our goals are to provide the best interdisciplinary care for patients and families with Huntington disease, and to educate other providers and the patient family community about Huntington disease,” said Testa, who is an associate professor in the Department of Neurology in the School of Medicine. “Connecting with patients, families and providers in the community strengthens the network of care and support for HD families.”
Globig’s presymptomatic treatment includes counseling and education in areas such as family planning and symptom recognition.
“The counseling is supportive, it’s a listening ear and a shoulder for support,” she said. “If you have anything that you think, ‘Gosh, is this some kind of symptom?’ you go in and talk to Ginger and she can reassure you because there are a lot of questions and a lot of doubt.”
Ginger Norris is a genetic counselor and clinical research program manager at the center.
“This diagnosis raises many questions and concerns,” Norris said. “Each person will have his or her own set of concerns, and there are no right or wrong answers. Individuals often need help exploring these questions and what is the right answer for them.”
The interdisciplinary care team in the HD program also includes a social worker to assist patients and families, a physical therapist to evaluate gait and balance, a neuropsychologist to provide cognitive testing, and a speech therapist to evaluate voice, communication skills and swallowing.
Through the VCU Medical Center network, patients may also access nutrition, sleep neurology and other specialists as needed.
The HD program’s leadership includes Testa, a neurologist with specialized expertise and more than 14 years of experience in HD clinical care and research, and Adam Rosenblatt, M.D., co-director, a neuropsychiatrist who provides clinical assessments and psychiatric consultations.
In addition to interdisciplinary clinical care, the HD program conducts important research.
One study is called PRIDE-HD. VCU is one of 30 global sites participating in this clinical research trial, which looks at the safety of an investigational drug called pridopidine and its effect on the movement, thinking and behavior in people with HD.
Another, called Enroll-HD, seeks to build a global database of information and samples for future studies to better understand the disease and provide better care for people with HD and their families.
Testa also is the Huntington Study Group co-principal investigator for the First-HD and ARC-HD studies testing a new treatment for chorea in HD.
Globig, her brother and her mother participate in Enroll-HD. Her mother participates in the Pride-HD study as well.
I want to know that I’m doing everything I can to help other Huntington disease families out there. I want to know that there’s hope for Huntington families.
“This is such a devastating disease, we need to make progress,” Globig said. “I want to know that I’m doing everything I can to help other Huntington disease families out there. I want to know that there’s hope for Huntington families.”
“The importance of a program that both cares for HD patients and conducts research is that those two aspects of what we do drive each other,” Testa said. “Experience with patients informs research: What are patients’ real concerns? What does success for a new treatment really look like to a family? How can researchers effectively and ethically work with people who have the HD genetic mutation but do not yet have symptoms? Participating in research allows me to connect our patients with the newest work and connect the newest work with patients.”
Part of connecting patients and the community with the latest research are events such as the Central Virginia Huntington Disease Day, which begins at 9 a.m. on April 11 at Westminster Canterbury Richmond, 1600 Westbrook Ave.
The event will feature presentations on subjects such as current HD research, occupational therapy resources, HD medications and financial options. Gentle yoga and care for caregivers will also be explored.
Since those with HD likely have a family member who suffers from the disease, many people might find both the patient and the caregiver portions of the day to be helpful.
Globig is one of those residing in both realms of HD. She turns to a quote that helps her care for her mother as her mother’s cognitive abilities fade: “To love a person is to learn the song in their heart and sing it to them when they have forgotten.”
And between learning and singing, strive to “… live a life that is meaningful.”
A full schedule and registration information for Central Virginia Huntington Disease Day can be found at http://parkinsons.vcu.edu/education/events/community.html.
To learn more about the Huntington disease program at VCU, visit http://www.parkinsons.vcu.edu/patient/huntington.html.
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