They say knowledge is power.
Take for example genetic testing for BRCA gene mutations known to increase risk of breast cancer. If you have a family history of breast cancer and test positive for the genetic mutation, then you can use this knowledge to your advantage by doing something, such as vigilantly doing monthly breast exams or regularly having mammograms. Such surveillance could lead to earlier detection and possible cure.
But what if you were at risk for Huntington's disease (HD), a fatal genetic disorder that causes the progressive breakdown of nerve cells in the brain? Would you want to know? This hereditary disease slowly diminishes a person's physical and mental abilities, and has been likened to having ALS, Alzheimer's and Parkinson's all at the same time. It has no cure. HD is a rare disease that affects about 30,000 Americans, and more than 200,000 are at-risk of inheriting the disease, according to the Huntington's Disease Society of America (HDSA). Symptoms usually appear between ages 30 to 50, and worsen over the lifetime.
That means more than 200,000 people could be facing a similar gut-wrenching decision about whether or not to have the genetic testing featured in the new HBO documentary, The Lion's Mouth Opens, which premiered June 1. The documentary tells the story of young filmmaker-actress Marianna Palka who gathers her friends around her as she finds out whether she has inherited Huntington's disease. Her father has the disease, and just like any other child of someone with HD, she has a 50 percent chance of developing the disease as well. The movie's title comes from the Bob Dylan poem which Palka recites aloud during the film about singer, songwriter and musician Woody Guthrie, who died in 1967 from complications of Huntington's Disease: "And the Lion's mouth opens and yer staring at his teeth and his jaws start closing with you underneath."
The Ohio State University Wexner Medical Center was among select sites across the country that recently hosted free public preview screenings of the movie, followed by a panel discussion with several of our experts at Ohio State's HDSA Center of Excellence. Many in the audience no doubt were all too familiar with what a diagnosis of HD means and the stigma that too often comes with the disease. People with HD may have personality changes, mood swings, depression, forgetfulness, impaired judgment, unsteady gait and involuntary movements (chorea), slurred speech, difficulty in swallowing and significant weight loss.
Hopefully, the movie will spark more discussion about the disease and genetic testing. Almost 90 percent of people who have a hereditary risk of developing HD have not yet sought genetic testing. Many fear how the knowledge will affect the way they live and the way people may treat them. Despite the passage of GINA (Genetics Information Non-Discrimination Act) many fear a possible impact on insurance and employment opportunities. The decision to have HD genetic testing is particularly complicated and affects more than just the person being tested; it can also affect their children and grandchildren, friends and other family members.
Sheri Nash, 46, of Columbus, Ohio, falls into the category of the untested. She is the daughter of one of my patients who died last year at age 72 from HD. Her father moved in with her during the last five years of his life, and I got to know her while she accompanied him to doctor visits. Her grandfather also had HD, along with eight other relatives.
Twice Nash came to my office to get genetic testing, and twice she walked away. Her older sister has been tested, and does not have HD. Her younger sister has no plans to be tested. Nash says she and her younger sister live by the credo: "Plan as if we have HD, but live as if we don't."
"The truth is, neither my mother nor father ever wanted me to be tested," Nash says. "They would have felt too guilty if they had passed it onto me."
After seeing how HD affected her grandfather, and before she even knew her father had it, Nash had decided as a young woman that she would never have children of her own. That way she could never pass on the gene. She and her husband adopted four siblings from foster care. Then she had an unplanned pregnancy.
"God had a different plan and he sent us our fifth little guy. I cried a lot during my pregnancy, because I had accidentally put someone at risk for HD," says Nash, who for years was involved in the HDSA on the local and national levels. Her son, now 7, is healthy, and they have no plans for him to have genetic testing either.
His younger brother, 4, won't have to worry at all. When she and her husband decided to have another baby, they utilized in vitro fertilization, which allowed them to have pre-implantation genetic testing on the embryo. So they know for certain that their son is protected and does not carry the HD gene.
While she's not ready yet to know her future, that didn't stop Nash from participating in a 10-year observational clinical trial for people at risk for HD to learn more about early symptom onset. Very few of the people who elected to be followed over the last 10 years decided to get testing during the trial.
In the case of HD many still feel that the knowledge provided by the genetic test does not provide them with enough power to positively affect their future. They continue to weigh the pros vs. the cons of knowing while hoping that researchers will soon provide them with more reasons for knowing. Ohio State is part of a consortium of national and international academic medical centers working together to study HD, and we are participating in six national clinical trials for HD that are looking for new disease biomarkers and potential drug treatments to help with chorea, improve cognitive function or to slow or stop the progression of the disease.
It is especially important for people at risk for HD and for those who have already been tested, whether they are showing symptoms or not, to know that they can participate in these clinical trials and help researchers gain the knowledge that will lead to the power to treat, slow and cure this disease.
This op-ed is a part of a Huntington's Disease Awareness Month collection and in collaboration with The Lion's Mouth Opens, premiering on HBO this June 1 at 9/8c and available on HBO Go and HBO NOW.