Huntington’s disease (HD) is a rare inherited brain disorder that gradually damages nerve cells in the brain. Over time, it affects movement, thinking, emotions, and behavior. Although there is currently no cure, advances in genetics and testing have transformed how doctors diagnose and manage the disease while also creating hope for future treatments.
The Babcocks participate in several HD awareness campaigns and fundraising events throughout the year. Pictured are the Babcocks, Sam, Cory, Penny, Kat, Serena, Candace, Belinda, Stacey, Chris, Erin, Marissa, Jeff and Brandon
Approximately 6,000 Canadians are currently living with Huntington’s disease, while another 7,500 are considered genetically at risk. Although the disease cannot be prevented, early genetic testing can help people prepare emotionally, financially, and medically. It can also allow individuals to participate in research studies or clinical trials.
For Erin Babcock and her family in Matlock, Huntington’s disease has affected generations. Her great-grandmother died from the disease at the age of 42 before passing it on to Babcock’s grandfather, who later died at 62.
Years later, Babcock’s grandfather’s six children — including her mother — underwent genetic testing. Four of the six children carried the gene and have since passed away. Her mother did not inherit the gene and today, several of her cousins continue to live with HD.
Despite the hardship, Babcock said the experience weakened family bonds.
“Growing up we were always a close family. We would get together weekly for dinner and special occasions with all my aunts, uncles and cousins,” she said. “We have fond memories of hanging out at the Oasis Beach, Kildonan Park, and renting cabins at Grand Beach with a lot of family pictures.”
After learning of the diagnosis, she described the news as “devastating,” adding that relatives struggled knowing they had to continue living with the uncertainty of the disease.
“In the beginning, it was okay life carried on but as years passed symptoms developed and progress and made day to day life more complicated,” she added. “This was not something we could celebrate.”
Over time, her family became involved in HD awareness campaigns, fundraisers, conferences, and youth camps to support research and learn more about available treatments and supports. Some relatives also participated in drug trials, although the treatments had no effect on them.
The disease was first described in 1872 by American physician George Huntington. In his paper On Chorea, Huntington detailed the disease’s symptoms, inherited nature, and gradual progression. Although doctors could recognize Huntington’s disease clinically for many decades, they did not understand its genetic cause until much later.
HD is inherited in an autosomal dominant pattern, meaning a single altered copy of a gene from one parent is enough to cause the condition. If one parent carries the mutated gene, each child has a 50 percent chance of inheriting it. Symptoms usually appear between the ages of 30 and 50, although a rarer juvenile form can begin earlier.
Early symptoms may include clumsiness, forgetfulness, mood swings, or difficulty concentrating. As the disease progresses, movement problems become more severe. Many patients develop chorea, which involves involuntary dance-like movements, along with stiffness, poor balance, and trouble speaking or swallowing.
The disease also affects mental health and cognitive abilities. Depression, anxiety, irritability, and apathy are common symptoms, while cognitive decline can make planning, memory, and decision-making increasingly difficult. As the disease advances, many individuals require assistance with everyday tasks and long-term care.
Although HD is serious and progressive, it is not an immediate death sentence. Many people live 15 to 20 years after symptoms first appear. While there is still no cure, treatments today focus on symptom management and improving quality of life. Medications can help control movement and emotional symptoms, while physical, occupational, and speech therapy can help patients maintain independence for as long as possible.
Researchers began intensifying their search for the disease’s genetic roots in 1972. In 1983, they made history by successfully mapping the disease-causing gene to chromosome 4 — the first time any autosomal disease had been genetically mapped. This breakthrough made predictive “linkage testing” possible, allowing some individuals to learn whether they were likely to develop the disease before symptoms appeared.
Another major breakthrough came in 1993, when scientists identified the exact mutation in the huntingtin (HTT) gene. Researchers discovered that Huntington’s disease is caused by an expanded CAG repeat — cytosine-adenine-guanine — within the gene. Most people have between 10 and 35 CAG repeats, while individuals with Huntington’s disease have 36 or more. This mutation produces an abnormal huntingtin protein that slowly damages brain cells over time.
The research process lasted decades and involved thousands of participants and dozens of institutions around the world. Research today is increasingly focused on identifying genetic modifiers, examining additional genetic factors that may influence when symptoms begin or how quickly the disease progresses.
Some experimental treatments are also attempting to slow or stop the disease itself. In September 2025, researchers studying the experimental gene therapy AMT-130 reported promising results. Patients who received a high dose of the treatment experienced a 75 per cent reduction in disease progression over 36 months compared to untreated individuals. Researchers also observed better maintenance of motor, cognitive, and daily functioning abilities.
The therapy is delivered through a one-time surgical procedure directly into the brain. Researchers are now preparing to share their findings with broader scientific organizations and the U.S. Food and Drug Administration (FDA).
Before genetic testing became available, doctors relied mainly on symptoms and family history to diagnose Huntington’s disease. Today, genetic testing can confirm the disease even before symptoms appear. Predictive testing became available in Canada in 1987, and the University of British Columbia performed the country’s first predictive test for an adult-onset disease in 1986.
Genetic testing for Huntington’s disease is carefully structured because of the emotional impact the results can have. Patients often meet with genetic counsellors or neurologists to discuss possible outcomes before testing begins. Neurological and mental health assessments are also commonly performed beforehand.
The test itself usually involves a blood sample, which scientists analyze using Polymerase Chain Reaction (PCR) technology to count the number of CAG repeats in the HTT gene. Several forms of testing are available, including diagnostic testing for symptomatic individuals, predictive testing for those with a family history, and prenatal or pre-implantation testing during pregnancy or IVF procedures.
For Babcock, one of the most difficult aspects was watching family members slowly lose the ability to communicate and function independently.
“We tried our best by bringing them their favourite treats, and celebrate the good times, but there are always those moments of frustration,” she said. “You would tell them ‘Good bye’ and ‘I love you,’ and sometimes it would take them so long to process what they said, you would already be half way down the hall before they said it in return. It got harder to have conversation because they would lose their speaking control. They would get frustrated because they couldn’t speak, and you would feel frustrated with yourself knowing you can’t help them.”
Babcock wants others to know support is available through physicians, specialists, and organizations such as the Huntington Society of Canada Manitoba Chapter.
She also understands the difficult choice many families face when deciding whether to undergo testing — whether it is better to know you carry the gene or continue living with uncertainty.
Babcock added she experiences “survivor guilt” for not inheriting the gene while watching relatives struggle with the disease.
“You are never able to help enough,” she added. “But as annoying as those phone calls were to help them, I would give anything to hear their voices again.”
The Huntington Society of Canada also continues to raise awareness through its annual #LightItUp4HD campaign, encouraging communities across the country to illuminate landmarks in blue and purple during May, which is Huntington Disease Awareness Month. May 15 is recognized as Huntington Disease Awareness Day in Canada. Organizers say the campaign helps families affected by Huntington’s disease feel supported while increasing public understanding of the fatal genetic disorder. In Manitoba, the Huntington Society’s chapter has remained active for decades through community fundraisers, awareness walks and support programs, including the annual Walk in Lockport, which has raised more than $650,000 over the past 50 years.
More information about Huntington’s disease is available through the Huntington Society of Canada Manitoba Chapter, www.hdmanitoba.ca.
