Huntington’s Disease is rare, but its effects are devastating — for the whole family. The good news? Help exists.
To put it simply, Huntington’s Disease is complicated.
First, it can be complicated to explain: It’s an inherited disorder that results from an error in one gene — the HTT gene, which gives instructions for making a protein called huntingtin — on Chromosome 4. Over time, this tiny error wreaks havoc on the brain, progressively breaking down nerve cells. It has no cure, and is ultimately fatal. It’s also rare: There are currently around 40,000 cases in the U.S, and 200,000 worldwide.
Second, it’s complicated in the way that it reveals itself. As with many genetic disorders, there is a spectrum of severity with Huntington’s Disease, largely due to the size of the error on the gene. In milder cases, the symptoms begin to show up in adulthood, when a person is in their 30s or 40s. In more severe cases, it can present in childhood or during the teenage years.
Third, it’s complicated in the way it affects families: People with Huntington’s Disease have a 50/50 chance of passing the gene on to their children. Since symptoms often do not appear until adulthood, children are often born before their parents know that they have the disease. As these children grow up and watch the deterioration of their parent’s nervous system, they’re left to wonder: Am I next?
But there’s one thing that’s not complicated about Huntington’s Disease, and that is the fact that help and support exist. At Huntington’s Disease Centers of Excellence — like Vanderbilt University Medical Center’s Huntington’s Disease Program — a trove of resources and research are available for families affected by the degenerative disorder. We spoke with two representatives from the program — Lisa Hale, a social worker, and Elizabeth Huitz, the clinic coordinator — to get more background on the disease, and on the education, care and hope that their clinic provides.
Symptoms of Huntington’s Disease
When thinking of how Huntington’s Disease affects a person, Hale recommends thinking of it in terms of the three Ms: mood, memory and movement.
“Mood symptoms can range from being irritable to suicidal to compulsive to apathetic, or a combination of all of them,” Hale said, noting that people with Huntington’s are often impulsive, risk-taking and prone to addiction. “Movement symptoms are known as ‘chorea,’ which describes uncontrollable and irregular muscle movements. Memory symptoms refer to cognitive decline. Generically, you can think of it as Alzheimer’s, ALS and Parkinson’s, all rolled into one.”
The progression of the disease is typically 15 to 20 years. “A person may first experience a slight finger movement or a toe movement,” Hale said, “and then eventually it will progress toward full body involvement.”
Testing for Huntington’s Disease
“We work with our patients to help them understand that you may have the huntingtin gene, but you do not have Huntington’s Disease until you’re symptomatic. We want to give you the education and tools you need to feel like you have control.”
If a patient suspects Huntington’s Disease — or if they have a family member with the disorder — genetic testing can confirm the presence of an affected huntingtin gene.
“You can never be ready for that result,” Hale said. “But we work with our patients to help them understand that you may have the huntingtin gene, but you do not have Huntington’s Disease until you’re symptomatic. You’ve had the gene since you were born, and at some point, it’s going to express itself — but we want to give you the education and tools you need to feel like you have control. We have this whole multidisciplinary team — neurologists, therapists, psychiatrists, neuropsychologists and more — who will help you every step of the way.”
Why early intervention is key
While there is no cure for Huntington’s Disease, there are specific programs, therapies, medications and trials that can help alleviate symptoms. Huitz is the clinic’s research nurse, which means her first order of business is to connect patients with research opportunities that exist — of which there are plenty.
“Earlier is always better,” Huitz said, “simply because we can get patients connected to research and provide the resources and education they need. Suicide is a higher prevalence for those with Huntington’s Disease. But for those who are a part of the advocacy community and attending support groups and the like, they fare better. They talk about Huntington’s Disease. They get connected and involved and get that control.”
“One of our doctors says, ‘You’re stressed, we understand — and now you can give that stress to us, and let us lighten the load,” Hale continued. “Let us help you live the most productive life possible.”