My first year out of college, I worked as a lab technician in a neurobiology lab at Massachusetts General Hospital East researching drug addiction. I was 22 years old in February 1993 when the scientists down the hall began celebrating, puncturing the typically austere bubble of this neuroscience research floor with big emotion. I remember pausing, my pipette hovering ready in hand, waiting for the details of whatever this exciting news was to reach me. I could feel it coming like a wave. The news was monumental. These scientists down the hall had just isolated the genetic mutation that causes Huntington’s disease (HD).
I remember the goosebumps on my arms, knowing I was witnessing a historic moment in all of neuroscience. This genetic mutation is the only thing that causes HD, and these scientists had just discovered it. Surely, there would be a cure for HD. It’s now 22 years later, and there is still no treatment that affects the progression and no cure. I decided to write Inside the O’Briens to hopefully create some much needed awareness and urgency about a disease most people know little about. HD is an inherited neurodegenerative disease characterized by a progressive loss of voluntary motor control and increase in involuntary movement. Symptoms can also include depression, apathy, paranoia, obsessive-compulsive disorder, dysexecutive syndrome, and disinhibited rage. It’s typically diagnosed between the ages of 35 and 45, proceeding inexorably to death in 10 to 20 years. It has been called the cruelest disease known to man.
I always begin each novel I write with extensive research. This involves reading, interviewing the medical and scientific professionals, and coming to know families affected. The goal is to tell the truth under imagined circumstances, so all of this research supplies the truth. In doing the research for Inside the O’Briens, I came to know many people affected by HD — people who are HD-positive but still asymptomatic, people who are symptomatic at different stages, people who are HD-negative, people who don’t want to know their gene status, a beautiful young woman with juvenile HD, mothers and fathers and spouses and siblings and husbands.
I originally thought I’d write from the point of view of a single person, Joe O’Brien, a father, husband, and police officer who becomes diagnosed with HD. But I quickly realized that in order to tell the whole truth, I needed to include the perspective of one of his adult children. Every child of an affected parent has a 50 percent chance of inheriting the mutated gene. If you have the gene, you will get HD. The discovery of the genetic mutation for HD in 1993 made genetic screening possible, and so every generation within an HD family “at risk” is burdened with an incredibly complex question: Do you want to know if you will get HD?
The other perspective in Inside the O’Briens comes from Joe’s 21-year-old daughter, Katie. She spends hours every day internally arguing the pros and cons of either decision. Ignorance is bliss. Knowledge is power. Living in the moment is enlightened. Planning for the future is responsible. Prepare for the worst. Hope for the best. By the end of each day, the tally is either even on both sides or too dizzying to count, and she collapses into bed, exhausted from the effort.
The Lion’s Mouth Opens is an important and compelling short documentary about Huntington’s disease premiering on HBO this June 1. The film shares the story of actress and filmmaker Marianna Palka, who, like the fictional Katie O’Brien, courageously decides to undergo genetic testing to find out whether she carries the gene for HD.
I encourage everyone to watch this film. In addition to the physical, mental, emotional, and financial costs of HD, families living with this disease also suffer from the completely unnecessary pain of alienation and shame. I’ve learned from Still Alice and Alzheimer’s disease that awareness, and especially awareness linked with compassion, dissolves isolation. Likewise, the path to significant funding for resources and scientific research must begin with conversation. Huntington’s has been called the most curable incurable disease. One thing causes HD, a genetic mutation that was isolated 22 years ago in a lab in Boston. But science alone won’t cure HD. Awareness is the fire that ignites change.
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 1st at 9/8c.
To donate to the HD Human Biology Project as part of Lisa Genova’s “Readers In Action,” go to lisagenova.com/donate-to-hdsa.