Reshaping my career and life in the face of Huntington’s disease (and a note of hope)

In the second half of the 1990s, after learning of my mother’s diagnosis for Huntington’s disease, the 50-50 chance of having the genetic mutation unsettled me greatly. One way I dealt this was to throw myself into my career.

The fear that I would follow in my mother’s footsteps and lose my ability to work frequently caused me to panic. I was just 36, but the future seemed bleak because I witnessed in my mother and other HD patients the terrible devastation of the disease. She was declining rapidly. I thought my own decline could occur at any time and was convinced that, at best, I wouldn’t get very far into my 40s before HD hit.

Striving to achieve the academic milestone of my first book – the gold standard for recognition for professional historians – I sometimes wrote as many as 14 hours per day.

The quest for success – I was already thinking about my professional legacy – served as a powerful form of denial.

Family first

During that now seemingly crazy but certainly understandable response, I often neglected my relationship with Regina, my wife. Regina had stood by my side throughout our ordeals with HD, but the long hours I worked meant fewer hours to grow with her in the marriage.

After my initial impulse to get tested for HD right after my mother’s diagnosis in late 1995, I had sensibly postponed testing to gather information about the disease and avoid the risk of genetic discrimination. Regina agreed that we should delay starting a family until we sorted out all the issues HD presented for conceiving and raising children.

However, after a few years of waiting, and approaching her mid-30s, Regina wanted a child badly.

My decision to get tested in 1999 to prepare for having a family, my subsequent positive test result, our daughter Bianca’s negative result in the womb, and her birth the following year grounded me again in the basics of life and sealed my commitment to my family.

As Bianca grew, my mother headed towards death.

Soon, rather than working overtime on professional  issues, I stepped up my HD advocacy, although always behind the scenes because of the enduring fear of genetic discrimination.

I still spent much time away from Regina and Bianca, yet I also learned to manage my week more efficiently. I reserved special moments for them, especially on the weekends.

Raising Bianca along with Regina and watching her grow into a teenager have brought me great pride and joy. There is no more important task for parents.

Although no life is risk-free, we are profoundly relieved and grateful that she will never have HD.

In my work as chair of the history department at the University of San Diego (USD), I always say “family first” to co-workers needing time off to attend to critical matters such as an ill child.

A clear purpose

In the 18 months since I exited the “HD closet” and announced the adoption of a second academic field, I’m once again reshaping my career.

I’ve reflected deeply on what professional ambition means for me. Whereas career was once top priority, today I think a lot more about human solidarity.

At home, this means keeping the focus on family. In the academic venue, it’s about viewing career as a service to students, the profession, and society. In HD advocacy, it’s a collaborative effort to speed up the discovery of treatments to save tens of thousands of people like me from the disease.

My shift in attitude results partially from my experience as a parent and the perspective on life maturity provides.

However, the fight against HD also plays a very significant role.

I especially comprehend the importance of HD when I attend conferences such as last February’s Ninth HD Therapeutics Conference, sponsored by the CHDI Foundation, Inc.

With hundreds of participants focused on the single goal of defeating HD, the feeling in the room was electric – indeed, almost surreal. The atmosphere was so intense and the connections among the participants so strong that I felt as if I were communicating telepathically with some of them.

Similarly, learning that yet another person has died from HD or juvenile HD strikes me in the pit of the stomach and redoubles my sense of urgency as an advocate.

My academic career began as a search for professional and personal fulfillment fueled with a passion for Latin America and its history. My investigation into the history of science, technology, and medicine – which includes my HD advocacy and, in this blog, an ongoing, firsthand account of living at risk – transcends the professional and the personal. It builds awareness about the global, cutting-edge efforts to improve brain health.

In short, I now have a clear purpose.

Melding career and activism

My reshaped career melds my professional training with my advocacy work. As I wrote recently, at work I raised concerns about the long-term effects of head injuries suffered by college football players.

On April 3, I attended a USD-sponsored panel discussion on ethics and genetic testing, with a focus on the direct-to-consumer genetic testing service 23 and Me. Last November the federal Food and Drug Administration ordered the company to stop selling its saliva connection kit and genome service because the agency said it had failed to demonstrate the tests’ accuracy. I made an audio recording of the USD event and took photos of the participants, who included fellow faculty members as well as two deans. I plan to report on the event in this blog. This is the first time that I have covered a USD event as an HD blogger.

During the 2014-2015 academic year, I will be on sabbatical, that is, freed from teaching and administrative duties to focus exclusively on research and related projects. During that period I plan to work on a long-gestating book on former Brazilian revolutionaries who have come to positions of power. I also aim to continue my HD advocacy, and I will prepare a new course tentatively titled “A History of the Brain,” a subject not being taught in our History department nor in any science department.

I hope that course, to be taught after I return from leave, will inspire students to become historians and to build awareness of the centrality of the brain in our lives, as well as produce more humanistic, historically-oriented science majors.

In general, I feel a growing desire to help guide young people – surely a function of being a father of a teenager and a veteran professor, but also of my solidarity work in the HD movement.

Riding a whipsaw, but content

On April 10, I flew to Providence, RI, to take part in a conference at Brown University marking the 50^th anniversary of the U.S.-supported Brazilian military overthrow of the democratically elected President João Goulart.

This was the first meeting related to Brazilian studies I had attended in more than four years. The long hiatus was caused by my growing interest in the history of science, technology, and medicine.

It was also the first time I took part in a Brazilian studies event where people knew about my HD status. I received words of encouragement from several colleagues, including some who have made donations to the cause. I felt very much at ease, and I was thrilled to feel some of my old passion for Brazil return and to catch up with my colleagues.

I also brought to the conference a much sharper mental focus, obtained thanks to my participation in events such as the HD Therapeutics conferences, which, because they represent completely new and highly complex material about a life-or-death matter, require enormous concentration, energy, and openness to different perspectives.

By sheer coincidence, on April 12 the Rhode Island chapter of the Huntington’s Disease Society of America (HDSA) held its inaugural family education day at Butler Hospital, also in Providence. I took part, giving a presentation titled "Opportunities for HD Advocacy."

You can watch my presentation in the video below. For other presentations from the education day, click here to visit my Vimeo video album of the event. (I'll be adding additional presentations from the event in the next few days, so be sure to refer to the album again.)

Opportunities for Huntington's Disease Advocacy: A Presentation by Gene Veritas at Butler Hospital from Gene Veritas on Vimeo.

Immediately after the family education event I got a ride to the airport with Connecticut HD activist Laura Kokoska, who updated me on her HD-stricken mother, who is 71, and her own advocacy activities.

On the morning of April 13, I led the Serbin Family Team in the third annual Team Hope Walk of HDSA-San Diego.

Flying coast-to-coast twice in less than 72 hours (with connections in Chicago), jumping from one event to another in Providence, presenting talks on both Brazilian history and HD advocacy, arising early on the 13^th for the Hope Walk – it all felt like riding on a whipsaw.

No matter! I was excited to thrive and make yet wider and deeper connections in both spheres of my career.

As I've learned, my life must not serve my career, but my career my life.

A successful Hope Walk

The Hope Walk was a success, raising approximately the San Diego chapter goal of $44,000. Lead corporate sponsor Auspex Pharmaceuticals, a San Diego-based company conducting HD research, donated $10,000 to the event. Other major corporate donors included pharmaceutical firms Vertex and Lundbeck, both of which also have an HD focus.

For the second straight year, the Serbin Family Team was the top team fundraiser, with a total of more than $4,600. I wish to thank the 44 donors (individuals, couples, and families) who gave to the cause, as well as the team members who walked with us at Tidewater Park in Coronado, CA.

As in past years, the support of HD-focused firms and the participation of more than 300 people, including some of the scientists seeking treatments, lifted my spirits.

You can view the Serbin Family Team and other scenes from the Hope Walk in the photos below.

The Serbin Family Team of the 2014 HDSA-San Diego Team Hope Walk: from left to right, Dory Bertics, Bianca Serbin, Jane Rappoport, Gary Boggs, Yi Sun, Kenneth Serbin, Regina Serbin, Allan Rappoport (photo by Bob Walker)

Gene Veritas (aka Kenneth Serbin) presents 16-year-old juvenile HD patient Terry Leach with the iPad mini won by the Serbin Family Team for being the top Hope Walk team fundraiser (photo by Misty Oto).

HDSA-San Diego President George Essig addresses the crowd just before the Hope Walk begins (photo by Gene Veritas).

Hope Walk co-organizer Misty Oto addresses the crowd alongside Christian Rodriguez (left) and Terry Lopez, organizer of a Poway High School student group established last year to support the local HD community (photo by Gene Veritas).

Tim Schroeder (left), Gene Veritas, and HD support group facilitator Sandy Grofcsik

Walk participants LaVonne and Paul Cashman (left) and Jim Stone (photo by Gene Veritas)

Hope Walk participants await the start of the event (photo by Gene Veritas).

Huntington’s disease in the news and entertainment media – Part I: Stigma and genetic testing

Despite its status as an orphan disease unknown to many, Huntington’s disease occasionally comes into focus in the mainstream news media and the entertainment industry.

HD’s biggest exposure came March 18, 2007, when the Sunday edition of The New York Times featured a long page-one story on 23-year-old Katie Moser, who had tested positive for this devastating, deadly brain disorder and was confronting her fate.

On September 15, 2011, HD entered the discussion again in a Dear Prudence column titled “Deadly Family Secret.” Emily Yoffe, the author of the advice column for the online newsmagazine Slate, responded to a young mother who had just learned that her newborn baby boy was at risk for HD. (Click here to read more.)

The writer, who signed her letter to Prudence “So Devastated,” recounted how, a week after the birth, she learned that her mother-in-law had HD. Thus the young mother’s untested husband has a 50-50 chance of inheriting the disease, and, if he indeed has the abnormal gene, the baby would face the same risk.

That letter once again highlighted how stigma, denial, and ignorance plague the HD community (click here to read more).

Some sound advice

Yoffe provided some excellent commentary and advice, though, as noted below, I found other aspects quite frustrating.

As an HD-positive person, support group member, and 2011 Person of the Year of the Huntington’s Disease Society of America (HDSA), I completely agree with Yoffe that the mother-in-law should have informed her son about his at-risk status, especially given the fact that her own mother had died of HD.

The young mother and her husband are now racing to educate themselves about the disease and its consequences – an anxiety-ridden situation they could have avoided, or at least planned for, had his mother revealed the family history of HD in a timely manner. They could have arranged for PGD, or preimplantation genetic diagnosis, to assure that their baby would be born without HD.

From my own extended family’s experience with HD and my observation of many others in my 13 years as an HD advocate, I believe that full disclosure is always the best policy.

Yoffe recommended that the couple tap into the resources provided by HDSA and its network of support groups and Centers of Excellence for Family Services and Research. She also advised that they consult a genetic counselor to discuss genetic testing for the husband, adding that the wife should inform an at-risk, pregnant cousin about her aunt’s diagnosis. With that knowledge, the cousin can test the fetus for HD.

A deliberate decision

Also, I was deeply relieved to read Yoffe’s advice to the young father that “there is no rush about making that choice” about his own genetic testing.

My own experience with testing supports this approach.

After learning of my mother’s diagnosis the day after Christmas 1995, I wanted to get tested immediately. But after speaking with my mother’s geneticist and becoming involved in the HDSA-San Diego support group, I learned that I should not rush into testing. Testing presented enormous risks involving job security, insurability, and my psychological health. Ultimately, I waited until 1999, when my wife became pregnant, to learn my fate. In 2000 our daughter tested negative for HD in the womb.

The omission of research

However, I disagree with other aspects of Yoffe’s response.

She omitted, or perhaps didn’t know, that a man often passes on a worse form of HD, sometimes causing a gene-positive child to develop juvenile Huntington’s disease. Thus the mother’s failure to inform “So Devastated” and her husband presents potentially even more devastating implications for their new family.

While Yoffe properly described HD as a “particularly cruel” condition, she failed to mention the huge strides made in research to combat the disease. That research provides immense hope for people such as “So Devastated” and her extended family (click here to read more).

A skewed view of testing

As a result of this omission, Yoffe presented a skewed view of genetic testing.

In referencing HDSA guidelines, she wrote that “there is almost never a reason to test a young person for the disease, which tends to strike in middle age.”

Despite the highly appropriate caution about not rushing into testing, genetic testing does play an increasingly important part in the solution to Huntington’s disease. Simply put, scientists, physicians, and drug companies need at-risk, gene-positive, and affected HD people to participate in research studies and clinical trials in order to understand the disease more fully and to test the safety and efficacy of potential drugs. (Click here to read more.)

Testing for HD directly benefits the effort to find treatments to make HD manageable like diabetes or perhaps even to bring about a cure.

By getting tested, at-risk people provide hope – for themselves and for the tens of thousands of people around the world affected by HD.

Treatments ‘on the horizon’

Although many people in the HD community, as well as journalists, still have not perceived this message, it has now existed in the public domain for a number of years.

A prominent example came in September 2005, when Dr. Martha Nance, the director of the HDSA Center of Excellence at the Hennepin County Medical Center in Minneapolis, responded to my own deep fears about HD by demonstrating in a Washington Post article that “treatments for neurodegeneration [brain diseases] are on the horizon.”

Similarly, as I have illustrated with my own experience, at-risk and gene-positive HD people have given testimony regarding the importance of research studies and clinical trials.

Testing no longer just a personal matter

Yoffe’s Dear Prudence column on HD effectively personalized how a “deadly family secret” can devastate successive generations. It reminds us of the urgent need to end the stigma associated with HD (and, by extension, with other neurological diseases).

Rightly so, Yoffe points out the great importance of sharing the truth about a genetic test with other family members and taking advantage of the information and services provided by HDSA.

However, I believe that HD and genetic testing are no longer just personal matters to be interpreted and confronted alone. They involve and impact the entire HD community – including the mutually beneficial, inextricable ties between the researchers and the patients (and potential patients like me and that letter-writer’s husband and son).

To defeat HD, we can never forget the big picture of our quest.

(In Part II, I will reflect on a recent episode about HD and suicide on the TV show Private Practice.)