May is Huntington Disease Awareness Month

Latorius Adams
·4 min read

May is Huntington Disease Awareness Month, in which a special effort is made to improve awareness of this neurological disease. While this rare disease may be unfamiliar to some, it affects tens of thousands of Americans.

Huntington’s Disease is a "genetic neurodegenerative disorder." The word genetic means that this disease is passed down from one generation to the next. Neuro relates to the brain. Degenerative means something that gradually gets worse over time. In this case, brain cells are lost faster than in regular aging. Disorder is another word for disease. Well known neurodegenerative disorders include Alzheimer disease, Parkinson disease, and Lou Gehrig’s disease (ALS).

HD causes brain cells called neurons to die in various areas of the brain, including areas that help control voluntary and intentional movement. Each person with HD will have their own unique experience with what symptoms they have, and which ones get in their way. Everyone eventually develops progressive motor (movement) symptoms and cognitive (thinking) changes. Neuropsychiatric symptoms can develop at any time, but these symptoms appear to be more variable person to person, and over time.

Huntington disease is named after George Huntington, who described it among residents of East Hampton, Long Island, in 1872. In 1993, a collaborative group of investigators identified the gene associated with HD and the genetic change within that gene that causes HD. That specific genetic change within the HD gene is called a CAG repeat expansion. People who have 40 or more CAG repeats within their HD gene will go on to develop Huntington disease at some point in their life. The number of CAG repeats can be determined through genetic testing. The gene discovery was life changing for HD families. It also had a much bigger impact: this was the first “gene hunting” effort, which helped found the Human Genome Project and the modern era of understanding and testing for genetic diseases.

Each child conceived naturally to a parent who carries a gene with the CAG repeat expansion has a 50% (1/2) chance of inheriting that affected gene copy, which causes HD, or a 50% chance of inheriting the unaffected gene copy. If a person does not inherit the affected gene copy, they will not develop symptoms and they will not pass Huntington disease on to their own children.

One copy of the gene with the CAG repeat expansion is enough to cause Huntington disease. People with one copy of the affected gene will develop HD at some point in their lives; however, they may have no symptoms until midlife or late in life. The HD patient/family community together with clinicians and geneticists developed genetic counseling and testing pathways for people who have a relative with HD and are at risk for inheriting HD, have no symptoms, and are weighing the pros and cons of finding out their own genetic status. These same pathways are now used by people at risk of inheriting genetic forms of Alzheimer disease and other later-in-life onset disorders.

Living with Huntington’s disease can be very challenging, so it is important to get the right information and support as soon as possible. There are different support options available to help people manage symptoms and to live as well as possible. Fortunately, there are a lot of resources out there for people impacted by HD. In addition to the international HD Youth Organization, HDBuzz, Huntington Study Group, Huntington Disease Society of America, and Help4HD, North Carolinians have unique support through the nonprofit HD Reach. Caregivers, loved ones and friends can learn about HD, help empower each other to take positive brain health actions, and most importantly take care of themselves so they have the energy to show up for the person with HD.

The UNC Chapel Hill Huntington Disease Program strives to provide collaborative care and clinical research opportunities that improve quality of life for patients, families and communities. We provide:

  • Diagnostic consultations, including pre- and post-test genetic counseling.

  • Genetic counseling and testing for at-risk individuals.

    • Also called predictive testing, pre-symptomatic testing.

  • Neuropsychiatry symptom management plan consults.

  • General Huntington disease care plan consults.

  • Holistic symptomatic Huntington disease care for patients of all ages.

  • Care for caregivers.

Latorius Adams, MS is a Care Navigator for the UNC Huntington Disease Program

This article originally appeared on Asheville Citizen Times: May is Huntington Disease Awareness Month