A new documentary, The Lion's Mouth Opens, poignantly captures the precarious journey into genetic self-knowledge by Marianna Palka, a 33-year-old filmmaker-actress. She has decided to test for Huntington's disease (HD), which has been referred to as the "devil of all diseases."
Watching a special preview of this Academy Award-shortlisted film at a meeting of leading HD scientists in February prompted me to relive my family's struggles with HD, which destroys the brain.
During the screening, I cried uncontrollably for a good while. I found consolation in a hug and encouraging words from Marianna.
Directed by Lucy Walker, the film explores a harrowing predicament: Researchers have developed a test for HD, but have not yet found a way to halt the progression of the disease. Understandably, because knowledge of the results is irreversible, the vast majority of non-symptomatic people shy away from testing.
Around the early 1990s, my mother started suffering from inexplicable psychiatric problems and uncontrollable movements in her legs. In 1995, two years after scientists identified the gene for HD in a search that helped inspire the Human Genome Project, my mother tested positive for the disorder. We finally understood what was wrong.
Like most people, my family had never heard of HD. In The Lion's Mouth Opens, Marianna and her mother reveal her own family's struggles with the denial and ignorance surrounding HD.
"The family didn't even know or didn't talk about it," Marianna's mother recalls regarding her husband's family's reactions to the disease.
As the child of a parent with HD, Marianna was born with a 50-50 chance of having inherited the disease-causing gene. All gene carriers develop the condition, usually between the ages of 35 and 55. Five to 10 percent of cases begin in the childhood or teenage years.
People with HD decline progressively over 15-20 years. The movements and a loss of coordination create a strange, drunk-like gait, slurring of speech, and eventually trouble swallowing. HD people also develop dementia, and so lose the ability to speak and care for themselves. Most spend their last few years confined to a wheelchair or bed in a care facility.
"You lose your body and your brain at the same time," Marianna says sadly.
In early 2006, unable to eat normally, my mother needed a feeding tube. However, my family decided against it because we believed it would only prolong her descent into the abyss of HD. She died shortly thereafter at the age of 68.
Because my wife and I wanted to start a family, in 1999 I decided to get tested.
I was stunned to learn that I had the genetic defect.
However, we had little time to dwell on my fate.
Just seven months later, we played -- and won -- yet another game of genetic Russian roulette: Tested in the womb, our "miracle baby" was HD-free. Today, instead of facing the possibility of the especially cruel and painful juvenile HD, she is a thriving high school student.
My family's struggles spurred me to become an advocate for the Huntington's Disease Society of America (HDSA).
However, fearing genetic discrimination, for most of the past 20 years I supported the cause anonymously, living in the terrible and lonely HD closet like so many others in our community. When I started the blog At Risk for Huntington's Disease, I adopted the pseudonym Gene Veritas, "the truth in my genes," a reflection of my reality as an HD gene carrier. Only in 2012 did I exit the closet.
In The Lion's Mouth Opens, Marianna comes out about her own family's struggles. The film also dramatically portrays her final hours before obtaining her test results, as she ponders the possibility of devastating news with close friends, who provide moral support. Such support is needed by anybody exploring the promise and peril of genetic information.
"Getting a positive result is like a death sentence, and if you get the opposite, then you just get to be like everybody else," Marianna says. "Those are two such different realities."
The film takes its name from lines in the Bob Dylan poem "Last Thoughts on Woody Guthrie," a eulogy for the most famous American to die of HD:
And the lion's mouth opens and yer staring at his teeth/And his jaw starts closin with you underneath.
Soon after his death in 1967, Guthrie's widow Marjorie founded the organization that would become HDSA. It seeks to improve the care of HD-affected individuals and promote the discovery of HD treatments. Other advocacy and research organizations have joined the fight.
The February preview of the film took place at an annual drug-development conference that attracts cutting-edge HD specialists and pharmaceutical representatives from around the world. Often removed from the everyday reality of HD, the scientists were visibly moved by the film and their interactions with Marianna afterwards.
In sharing her story with a vast audience, and this June 1 on HBO, Marianna is emerging as a key new spokesperson for the HD cause.
The scientists she inspired anew hold the key to the future for the 30,000 HD-affected individuals and estimated 200,000 people at risk for carrying the genetic abnormality in the U.S.
Without an effective treatment, I and other HD gene carriers individuals will inevitably develop symptoms.
The search for HD therapies embodies the toughest scientific and health challenge of our era: finding a way to get effective medications into the brain to stop the damage and death of neurons.
The world still lacks drugs that halt the progression of symptoms not only in orphan conditions such as Huntington's, but in Alzheimer's, Parkinson's, and other neurological disorders, whose sufferers collectively number in the millions.
The challenge is significant, but surmountable. One of the hurdles in the quest to treat HD, and diseases in general, is the shortage of volunteers for the clinical trials that test the safety and efficacy of potential drugs.
To defeat HD, we need many more people to exit the HD closet.
As with Marianna in The Lion's Mouth Opens, it can begin with the simple act of sharing your fear with someone close to you.
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 HBOGo and HBONow.