Scholars often shift focus over the course of a career to pursue a discovery, a new job, or a need for variety. For me, it was learning that I will, at some point, develop a terrifying, untreatable, fatal brain disorder.
Finding out that I carry the gene for Huntington's disease forced me to re-evaluate my life and career, thrust me into a new activist role (although initially from behind a pseudonym), and plunged me into a fight that could affect my very survival.
My longtime research specialty is modern Brazilian history. But quietly, and with increasing conviction, I began to get involved in a radically different second field—one encompassing science, technology, and medicine—in a quest for advances that could save me, the 30,000 other Americans affected by this horrid disease, and the estimated 150,000 to 250,000 others at risk.
Huntington's carries a stigma, not because it is contagious or indicative of some dissolute behavior—it is neither—but because its frightful symptoms result from its nature as an inherited disorder. The Nazis were said to have forcibly sterilized as many as 3,500 people affected by Huntington's, and in the United States, where involuntary sterilization continued into the 1960s, eugenicists also advocated the procedure for the Huntington's populace.
Every child of a parent with Huntington's has a 50-50 chance of inheriting the mutated, disease-causing gene. Anyone with the gene will develop Huntington's at some point, usually between the ages of 35 and 55. There is no cure or treatment.
For years, worried about the possible career and social risks of revealing my gene-positive condition, I conducted advocacy behind the scenes as "Gene Veritas," the nom de plume by which I am well known to the Huntington's community via my blog. Now, as the culmination of a long and painful process of "coming out," I want to publicly take ownership of my story to combat the stigma and fear surrounding Huntington's and other neurological disorders. In so doing, I also hope to help galvanize increased support for brain research.
This journey began on the day after Christmas in 1995, when I learned that my mother, Carol, had Huntington's. The news cast me into a depressing realization that she was doomed to die of what has been called the "devil of all diseases." Huntington's produces a ghastly triad of motor, cognitive, and behavioral abnormalities that resemble Parkinson's, Alzheimer's, and psychiatric disorders. I learned that the more severe the mutation, the earlier the onset. And a man can pass on a far worse mutation than a woman and thus cause onset in his children as early as the toddler years.
At the time, I was still four years from tenure at the University of San Diego. Fearful of losing my health coverage and my job as an assistant professor, I told almost no one about my situation. I worried about how my colleagues would react to learning that a fellow intellectual might have a genetically compromised brain. And I postponed my own predictive genetic testing.
For several years, I pondered the matter in solitude, with my wife, Regina, and with a support group of the San Diego chapter of the Huntington's Disease Society of America. In mid-1999, with Regina wanting badly to start a family, I decided to get tested.
We were stunned to learn I had the mutation.
Hardly knowing how to react, and knowing that, like my mother, I was racing against my own genetic clock as I approached 40, we stoically moved ahead with our plan to conceive. Regina soon became pregnant. For four excruciating months, until the result of the genetic test became available, we waited to learn the fate of the new life growing in her womb. As best I could, I focused on completing my first book and preparing my tenure file. Our prolonged anguish finally gave way to joy when we learned our "miracle baby" was free of the Huntington's gene. Bianca was born healthy on June 26, 2000.
Nights and weekends I delved into volunteer work on the San Diego chapter board of the Huntington's society. Pushing for greater advocacy, I helped write a bipartisan "colloquy" on the disease that appeared in the Congressional Record. During research trips to Brazil, I networked with the fledgling Associação Brasil Huntington.
Drawing on the human perspective gained in my study of Brazil, for seven years I explored the horrific depths and hopeful yearnings of the Huntington's community as the editor of the San Diego chapter's newsletter, Conquest. I wrote editorials against genetic discrimination and in favor of embryonic stem-cell research. To educate myself about the science and to cope with my own fear, I regularly wrote research updates. Conquest started reaching prominent donors just as we inaugurated a gala to support the society's new family-services center in San Diego. However, my name appeared nowhere in the newsletter.
Pondering how to publicize the disease without publicizing myself, I decided to start a pseudonymous blog, and adopted a name that signified "the truth in my genes."
"My name is Gene Veritas and I am at risk for Huntington's disease," I wrote on January 10, 2005. Over the past eight years, I have bared my soul in more than 130 articles, from exploring my family's struggles to interviewing scientists. I have documented the new and harrowing human experience of living in the gray zone between a genetic test result and the onset of a disease it foretold—all while anxiously awaiting the discovery of an effective therapy.
Still, on countless occasions, Huntington's has sidetracked my life. In mid-2005 my mother entered a nursing home. "Death draws near as she loses her ability to swallow," I wrote to a physician friend, describing my growing worry about both her and my own future. "Will I see my daughter fall in love and go to college? Suicide would spare my family an exhausting, financially ruinous burden. I would not suffer like the HD patients I recently saw at a nursing home, writhing uncontrollably, wearing diapers, belted in a special chair or confined to a padded room. But a suicide would devastate my daughter."
My mother died in her sleep on February 13, 2006. She was 68.
Utterly dejected that I would be next to get Huntington's, I took nearly a year to regain my emotional equilibrium, while managing to preside over the Brazilian Studies Association. In 2007, in a wrenching, career-changing decision, I turned down a job to help run Florida International University's fine Latin America center in order to remain in San Diego, a biotech hub. Anticipating my shift toward the history of science, I valued my university's intellectual flexibility as a private liberal-arts institution. Most important, remaining in California allowed Regina to keep her relatively well-paying teaching job, our financial lifeline if I become disabled.
That same year, as California's voter-approved $3-billion stem-cell agency prepared to issue research grants, I jump-started statewide advocacy by planning the first presentations about Huntington's before the agency's oversight board. Since then, advocates have helped secure nearly $29-million for Huntington's stem-cell projects. Meanwhile, a major new "cure Huntington's initiative," a nonprofit biomedical group called CHDI Foundation Inc., has revolutionized Huntington's drug research and, for the first time, involved important pharmaceutical firms. The Huntington's community has, at last, real hope.
The passage of health-care laws and measures to protect people who have tested positive for genetic disorders from employment and insurance discrimination emboldened me to start going public. In 2011, I gave the keynote speech, the most important of my life, at CHDI's sixth annual research conference, where I explained that Gene Veritas was Kenneth P. Serbin and urged scientists to redouble their efforts. (The speech can be viewed at http://vimeo.com/19906160.)
With this essay, my first in the mainstream media, I take my definitive step out of the Huntington's closet. I now seek to integrate my advocacy and newfound passion for the history of science with my academic career.
I plan to join the History of Science Society, develop a course on the history of the brain, and seek connections with my university's new neuroscience and social-outreach projects to promote brain health as a national priority.
The story of Huntington's is the story of our time. Huntington's was one of the very first diseases for which a genetic test was developed. As knowledge increases about numerous other health risks, medical ethics must undergo profound revision, and a genetic-rights movement must arise. To borrow one scholar's phrase, disease-gene carriers like me are "moral pioneers" on the genetic frontier.
Huntington's research could help unlock the keys to thousands of genetic, neurological, and rare "orphan" conditions that together devastate millions, starting with Alzheimer's and Parkinson's. As Alzheimer's in particular illustrates, we are living longer physically, but can we live longer mentally? All of these conditions create a crushing burden on caregivers.
At 52, I have reached my mother's age of onset. I cherish each moment of health. As I contemplate my intellectual legacy, I encourage others to join the race to protect our most important natural resource—our brains—and strive for a world in which science conquers disease.