Advocacy in the workplace: raising awareness about Huntington’s disease and brain health

In the fight to defeat Huntington’s disease and other brain disorders, advocacy in the workplace can attract new allies, boost awareness, and serve as a bridge to resources for those facing HD.

November 4 will mark five years since I went public about my gene-positive HD status in my essay “Racing Against the Genetic Clock,” published in The Chronicle of Higher Education.

Before that day in 2012, I lived in the “terrible and lonely HD closet,” with virtually nobody outside the HD community, family, and close friends aware of my family’s struggles. My name appeared nowhere in the local, tri-annual HD newsletter that I wrote and edited from 2001-2007. I began this blog in 2005 with a pseudonym, “Gene Veritas,” “the truth in my genes,” a reflection of my status as an HD-gene carrier.

Starting with the Chronicle article, I have integrated my advocacy into my work as a professor at the University of San Diego (USD).

Bioethical challenges

In 2014, I started collaborating with Laura Rivard, Ph.D., an adjunct professor in the USD Department of Biology who teaches a course on bioethics. One of her students, Nazin Sedehi, recorded a video interview of me recalling my family’s experiences with genetic testing for two websites aimed at helping a general audience explore bioethical dilemmas.

I’ve spoken on HD to Dr. Rivard’s class three times. In February 2016, I gave a presentation titled “Huntington’s Disease and Bioethics: A Personal Case Study.” The talk focused on how advances in medicine and biotechnology have provided new tools for understanding both human biology and the situation of HD-affected individuals and families.

“These changes – these huge transformations that we’ve been going through scientifically and socially – have put people in unprecedented predicaments and thus, they are creating new bioethical challenges,” I stated. I reflected on how HD families faced decisions about predictive testing, family planning, abortion, suicide, euthanasia, and more.

You can watch my presentation in the video below. During the other class sessions, I provided commentary and answered questions after we watched the HBO documentary The Lion’s Mouth Opens, about young filmmaker-actress Marianna Palka’s decision to get tested for HD.

Huntington's Disease and Bioethics: A Personal Case Study from Gene Veritas on Vimeo.

‘You are precious’

My advocacy reached a milestone in May, when I traveled with my family to Rome to help represent the U.S. HD community at HDdennomore: Pope Francis’ Special Audience with the Huntington’s Disease Community in Solidarity with South America. I reported on the audience in several blog posts (click here to read one example).

My trip was made possible by USD’s College of Arts and Sciences, the Frances G. Harpst Center for Catholic Thought and Culture (CCTC), the International Center, and the Department of History. Back home, on September 28 I gave a talk exploring the social, scientific, and religious meaning of this extraordinary event. Some 60 students, faculty, and members of the San Diego HD community attended.

In one of the most emotional speeches I have given, I repeated the words of Francis’ address that most moved me:

For Jesus, disease is never an obstacle to encountering people, but rather, the contrary. He taught us that the human person is always precious, always endowed with a dignity that nothing and no one can erase, not even disease. Fragility is not an ill. And disease, which is an expression of fragility, cannot and must not make us forget that in the eyes of God our value is always priceless. Disease can also be an opportunity for encounter, for sharing, for solidarity. The sick people who encountered Jesus were restored above all by this awareness. They felt they were listened to, respected, loved. May none of you ever feel you are alone; may none of you feel you are a burden; may no one feel the need to run away. You are precious in the eyes of God; you are precious in the eyes of the Church!

I told the audience: “I saw HD turn my mother into a shadow of herself. I deeply fear losing my ability to speak and, especially, to write. Hearing that we HD people are ‘precious’ was a huge morale booster.”

I hope that my presentation raises awareness about HD in the U.S. Catholic community and beyond, and helps spur at-risk individuals and others to exit the HD closet and join the movement.

You can watch the speech in the video below, recorded and edited by Scott Lundergan of USD media services.

'Hidden No More': Pope Francis' Historic Audience with the Huntington's Disease Community from Gene Veritas on Vimeo.

Warning about football’s dangers

On October 17, another dimension of my workplace advocacy – the effort to raise awareness at the university about the dangers of tackle football – reached a crescendo. A resolution to ban football at USD, proposed by Daniel Sheehan, Ph.D., Nadav Goldschmied, Ph.D., and me, was voted on in the Academic Assembly of the College of Arts and Sciences.

USD football is a non-scholarship sport, so its profile is not as high as at some campuses, but it has fervent fans among students, alumni, and even faculty. At a USD Faculty Senate meeting last December, President James T. Harris III, D.Ed., reaffirmed his opposition to cancelling the program because, in his words, “no universities have closed their football program […]  because of concussion evidence yet.”

In the weeks leading up to the meeting, I remembered Pope Francis’ encouragement. I also frequently recalled my mother’s struggle with HD and my father, the “HD warrior” who cared for her for more than a decade.

Our resolution focused on the scientific evidence about football’s threat to the brain, especially the disease known as CTE (chronic traumatic encephalopathy), first seen in boxers in the 1920s and, over the past ten years, identified in the autopsies of an increasing number of National Football League, college, and high school players. We cited the publication in July of an article in the Journal of the American Medical Association documenting CTE in 110 of 111 autopsies of decease NFL players. (For the resolution’s rationale, please click here).

CTE produces symptoms similar to HD and other neurological diseases such as aggressiveness and cognitive loss.

However, many faculty members defended the football program because of virtues such as character-building. Surprisingly, this group included biologists and other natural science specialists.

After one of the most heated faculty debates I have witnessed in 25 years at USD, the motion lost, 50-26. However, 30 professors abstained – reflecting perhaps discomfort about offending their colleagues and/or indecision on the matter.

As a brain health advocate, I was disturbed by the vote. In an upcoming article, I will explore the USD debate in detail, in particular how it shows how scientific evidence is often ignored or manipulated in critical debates, and what this means for the HD and other disease communities.

Immediately after the assembly, I met with about 70 members of USD’s chapter of Phi Delta Epsilon, the co-ed pre-medical fraternity, to speak on HD and the papal audience. I urged them, as future members of the health professions, to be aware of CTE and to safeguard the well-being of football players. I also defended the continued inclusion in our health system of those with pre-existing conditions like me who in the past often hid their potential illnesses.

Fraternity president Nicholas DiChristofano pledged that the organization would support the HD community.

A student stands up for her family

As a result of my public stance, USD faculty members, students, and former students have supported the cause with generous donations and participation in the annual Team Hope Walk of the San Diego Chapter of the Huntington’s Disease Society of America (HDSA). Many read this blog.

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, Prof. Yi Sun (of the USD History Department), Gene Veritas (aka Kenneth P. Serbin), Regina Serbin, and Allan Rappoport (photo by Bob Walker)

Through my advocacy, I can connect people to HDSA’s resources.

At day’s end on October 17, I met with Sydney Smyer, a 19-year-old USD biology major.

On October 3, Sydney had sent me the following email, quoted here with her permission:

My name is Sydney Smyer. I am a student here at USD and I attended your talk on Huntington’s disease and the explanation of His Holiness, Pope Francis’ involvement in the Huntington’s disease community. I was quite moved and enlightened, Dr. Serbin. Huntington’s disease runs in my family. My grandfather died from it as well as his father and three of his brothers. His remaining brother has recently been diagnosed with Huntington’s disease. Soon I will be tested, especially because my mother refuses to be tested and my uncle has been showing symptoms for some years now. I think your words would enlighten my family and bring them to the fullness and understanding that is comforting in so much uncertainty for our family members.

Sydney, whose family is Catholic, will share my #HDdennomore video with her family. They have an extremely rare disease known as HDL1, Huntington’s disease-like syndrome, a genetic disorder producing HD-like symptoms.

Sydney and I talked for almost an hour about our journeys with HD. Though I mentioned my own past fears about my HD status jeopardizing my career and insurance, Sydney was adamant about facing HDL1 openly and standing up for her family.

She accepted my invitation to the October 30 meeting of the HDSA-San Diego support group, featuring the highly popular annual HD research update by Jody Corey-Bloom, M.D., Ph.D., the director of the local HDSA Center of Excellence for Family Services and Research.

Stepping forward

To me, there is no more important work in the HD community than the mutual assistance we provide at the support group.

When I exited the HD closet five years ago, I did not imagine that one day a USD student would join our group.

I am grateful to USD and my colleagues for their support as the HD community seeks a treatment for this incurable disorder.

As a professor, I have the privilege of melding my academic work with advocacy.

However, many of us in the HD community have unique skills and positions with the potential for building bridges to our employers and others we associate with on personal and professional levels. Doing so can reap many unexpected benefits.

Sydney's courage should inspire us all to step forward.

Dreams for a better future: an opportunity we Huntington’s disease people and our families are denied

Because of its devastating medical and social impact, Huntington’s disease often forces affected individuals and their families to abandon their dreams.

After learning of my mother’s diagnosis for HD in 1995 and then testing positive for the deadly gene in 1999, I became aware of how the disease could damage family finances.

HD families not only lose the income of the affected individual; they also bear the costs of caring for that person, including nursing home fees. Sometimes the caregiver quits his or her own job in order to stay at home with the patient. Sometimes an exhausted caregiver even dies before the HD person.

Fearing such consequences, my wife Regina and I abandoned the idea of buying a retirement home in her native country of Brazil, in order to save more money to pay for my future care.

Our daughter tested negative for HD in the womb and is today a healthy 16-year-old. Unwilling to repeat the long and psychologically traumatic process of prenatal genetic testing, we decided to have no more children. That decision was especially painful for Regina.

Delving into the cause for a cure to save my deteriorating mother, I was compelled to add a new, fundamentally different dimension to my academic career: in addition to Brazilian history, I now also study the history of science, technology, and medicine. In this blog I have tracked the development of HD research, chronicled the HD cause as a social movement, and documented the new and harrowing human experience of living in the gray zone between a genetic test result and disease onset.

This new dimension has brought many rewards, but I often fantasize about what my career would be like if it weren’t for HD.

A diversion and a trigger

Brazil, my research passion, became simultaneously a diversion from and a potential trigger of HD onset. I eagerly looked forward to the escape to the wondrous culture of Brazil during my summer research trips.

However, with both HD and my intellectual legacy on my mind, each spring I prepared feverishly for those trips, packing into my schedule as many research tasks as possible – including meetings with Brazilian Huntington’s advocates. On the plane south, I worried about whether I was doing the best thing for my health. Relaxation and exercise in San Diego seemed more beneficial than living in hotels and eating restaurant food while exposing myself to the pollution and winter weather in the São Paulo megalopolis, where I did a lot of my work.

Facing HD, I couldn’t help but wonder if each trip might be my last.

Going international

As I became more deeply involved in HD advocacy and this blog over the past ten years, I lost some passion for Brazil research.

My mother’s death in 2006 figured heavily in that equation. As I watched her succumb to HD, I knew I would be the next to be stricken by the inevitable symptoms.

Research on Brazil sometimes seemed irrelevant. However, I kept at it, continuing a string of annual research visits stretching from 1986 to 2010, and again in 2013, 2015, and 2016. Today I consider myself bi-cultural, and my network of contacts in Brazil has made my HD advocacy international.

A new perspective

Lately, I’ve entered yet another stage of my journey with HD.

This year marked the tenth anniversary of my mother’s death. With time, memories of her struggle have become less frightening.

At the same time, something more important has occurred: at 56, the age at which my mother had involuntary movements and was losing her cognitive abilities, I have yet to develop any of the classic, visible signs of HD.

Scientists are getting closer to explaining the reasons for different age of onset in people like my mother and me who have the same degree of genetic defect (click here to read more). Unlike my mother, I’ve had the advantage of knowing that I carry the gene. So I have cared for my health more conscientiously.

After testing positive at age 39, I was convinced that I would by now have symptoms that would prevent me from working and traveling to Brazil.

I have been extremely lucky. As a result, my perspective has changed. I feel more optimistic about life because of the wonderful blessing of health that I currently enjoy.

Also, while in 1995 there was a dearth of potential HD remedies, today researchers run clinical trials in the quest for remedies to alleviate HD and perhaps even make it a manageable disease, thus allowing people to lead normal lives.

Having gotten this far, and looking back on two decades of advocacy, I am also somewhat more at peace with the fact that HD will inevitably strike me.

I know I am fighting the good fight. Ultimately, I cannot control my fate.

Taking a break from the cause

I took a break this summer from the HD cause. I devoted much of it to working on a long-gestating book project on former revolutionaries in power in Brazil, including Dilma Rousseff, the president of Brazil impeached in March and removed from office on August 31 by a vote of the Brazilian Senate. To grasp this important moment in Brazilian history, I have immersed myself in the events, including watching live video.

I had started the research on this project shortly after learning of my mother’s diagnosis. I had never imagined that at 56 I would still be able to write.

Focusing fully on Brazil again this summer, I felt in my element.

I did feel guilty this summer about not responding immediately to some requests for help from members of HD families.

However, I also recalled how many HD people give up on their dreams. I thought specifically of one asymptomatic gene carrier who decided to put advocacy aside and dedicate himself fully to a promising career.

“I have a right to self-fulfillment, too,” I told my psychotherapist. “I have given up so much because of HD. I really want to finish my book on Brazil.”

All HD-affected individuals and their families have the right to their own dreams!

That’s what we in the HD community are fighting to restore.

A stark reminder of HD

The gravity of our struggle hit home again on September 13, when Laura Rivard, Ph.D., invited me to attend a screening of the HBO documentary The Lion’s Mouth Opens in her course Ethical Issues in Genetics at the University of San Diego. (In a future article, I will explore HD and bioethics in the context of Dr. Rivard’s course.)

The film portrays filmmaker-actress Marianna Palka’s decision to test for HD. Before class, Dr. Rivard’s students also watched a video of me, produced by one of her former students, in which I discuss my own experiences with genetic testing (click here to watch the video).

The scenes with HD people moving uncontrollably starkly reminded me of my mother – and once again of my own terrible burden as a gene carrier.

Our biggest dream: an effective treatment

After we watched Marianna learn from a geneticist that she carries the HD gene, I answered students’ questions.

One asked: “Do days ever go by when you totally forget about your diagnosis, or is it always in the back of your mind?”

“It’s almost always in the back of my mind,” I responded.

However, I added: “I haven’t blogged since May. This is one of the longest periods I’ve gone without blogging.”

I explained that my Brazil book had priority over the summer.

“I’ve been able to put Huntington’s disease aside for the first time in many years,” I said. “It’s really nice to wake up some days and think about Brazil instead of Huntington’s disease.”

After leaving Dr. Rivard’s class, I remembered that the battle for treatments continues. It’s a battle that we need to win.

Like others affected by HD, I don’t want to become a financial and caregiving burden for my family. And like others, I want to experience the joys of family milestones, such as seeing my daughter graduate from college and start adult life without the worry of an incapacitated father.

An effective treatment will make that possible. Right now, that is our biggest dream.

Fathoming Huntington’s disease, genetic testing and the biotechnological era in an academic setting

The decision to undergo genetic testing for an inherited, untreatable disease carries the risk of a devastating, life-transforming result. We in the Huntington’s disease community know all too well the medical and social consequences of carrying the genetic mutation for this neurological condition, which produces uncontrollable movements, dementia, and mood and psychiatric disorders.

At the same time, testing positive for a genetic disorder can potentially provide an individual with sufficient advance warning to enable informed decisions regarding planning a family, finances, insurance coverage, career, and other key matters.

I’ve reflected frequently on the perils, benefits, and ethical challenges of genetic testing. In fewer than five years, my family faced three tests: my mother’s positive test (and diagnosis) for HD in 1995, my positive test in 1999, and our daughter’s negative test in the womb in 2000. I have discussed genetic testing in many articles in this blog as well as in the nearly dozen speeches I have made on HD in the past four years.

I prepared practically all of these written and oral accounts for audiences mainly familiar with HD and the issues surrounding genetic testing. Testing was always just one topic among many covered.

As poignant as ever

Recently I was prompted to ponder genetic testing again, but in a different format and setting. At the invitation of Nazin Sedehi, a senior at the University of San Diego (USD), I participated in a video on HD and my family’s experiences with genetic testing.

After exiting the “HD closet” in late 2012 with the publication of an article in The Chronicle of Higher Education, USD placed a feature story and photos of me and my family on its website.

Now, at Sedehi’s behest, I did an interview for two websites aimed at helping a general audience explore the dilemmas of genetic testing and other bioethical challenges.

Sedehi conducted the interview with the benefit of her studies as a pre-med interdisciplinary humanities major. I was distinctly the subject of Sedehi’s research. The interview had a decidedly academic purpose in the broadest, most positive sense of the word: gathering, reflecting upon, and disseminating critical knowledge.

For the first time in an oral presentation, I focused almost exclusively on genetic testing.

Despite having touched often on this topic, it felt as poignant as ever to reflect on it again.

‘You can’t kill the gene’

I met Sedehi after reaching out to her and others at USD who last year set up a new student-designed website called Genetics Generation. The site aims to provide impartial information about genetics-based technologies and engage the general public regarding genetics and ethics.

The interview took place in my office at USD, where I have taught since 1993 and chaired the Department of History since 2009. Sedehi produced the video for an independent study supervised by Laura Rivard, Ph.D., an adjunct professor in the USD Department of Biology, with the purpose of generating content for the student-run site and Dr. Rivard’s Genetics Generation blog at Nature Education’s Scitable online teaching/learning portal.

“You know, you can’t just extirpate this thing from your body,” I state at the start of the video, underscoring the genetic nature of HD. “It’s not like a virus that you can hope goes away with time if you take some orange juice, and the cold virus goes away. It’s not like a bacteria, which you can treat with an antibiotic.”

I speak as the juxtaposed images of a normal brain and a shrunken HD brain fill the screen.

A scene from the video comparing a normal with an HD-affected brain

“It’s not even like cancer,” I continue. “In cancer there’s chemotherapy, there’s radiation. You can kill the cancer cells. But you can’t kill the huntingtin gene.”

Sedehi cuts to my response to the question about my reason for getting tested. I explain that I wanted to get tested “immediately” after learning of my mother’s diagnosis. However, on the advice of people familiar with the social risks of genetic testing, I postponed my decision.

Ultimately, I decided to get tested.

“It would be a way for me to fight back,” I declare. “Knowledge is power, and having that knowledge would enable me to care for myself in the best way possible, as a way to avoid the symptoms of the disease.”

Our most difficult experience

Then the interview tackles the most difficult issue my wife and I faced: the testing of our daughter.

“We knew that because I had tested positive for the disease, the potential child had a 50-50 chance of inheriting the mutation,” I say. “We also knew that when a father passes on the disease, he in some instances can pass it on in a far worse form. She was tested in the womb.”

I note that this was before the arrival of preimplantation genetic diagnosis, which couples today use to screen embryos for the HD mutation.

“The happiest day of our lives was learning that she had tested negative for the Huntington’s disease mutation,” I state, adding, however, that the “entire experience was certainly one of the most difficult, if not the most difficult, experience my wife and I went through together.”

No regrets, but a changed life

When Sedehi asks if I ever wish I hadn’t been tested, I respond that I have no regrets. I fantasize about a treatment that would free me and the rest of the community from the scourge of HD.

At the same time, I recognize that HD has profoundly changed my family’s life.

“Life’s not just about Huntington’s disease, but it really did change the way we looked at life,” I recall. “It changed the way we think about money, about career, about whether we should move, about the number of children we should have, whether we can buy a retirement home in South America. … It really made us much more cautious in planning for the future.”

Sedehi wants to know what comes to mind when I hear the words “Huntington’s disease.” I respond instantly: my mother and her utter dependence on my father and other caregivers.

Families of HD people witness two deaths, I add.

“The first death is when the person loses a large part of his or her personality, and cannot talk any more, cannot communicate,” I explain. “It’s as if you’ve lost that person already. The second death is when they die the physical, final death.”

Germinating beneficial ideas

You can read Sedehi and Dr. Rivard’s introduction, watch the video, and participate in an online discussion by clicking here. You can also watch the video below.

Huntington's Disease Interview with Dr. Kenneth Serbin from Know Genetics on Vimeo.

The connections to Sedehi and Dr. Rivard mesh with my HD advocacy and the concomitant expansion of my scholarly research into the history of science, technology, and medicine (click here to read more).

Through our joint efforts, we can help raise awareness about the difficult challenges, as well as the great potential for medical breakthroughs, of the biotechnological era.

Our collaboration reflects the trend towards what academics refer to as “interdisciplinary” research and teaching, where professors from seemingly disparate fields pool knowledge and differing perspectives to understand problems.

Dr. Laura Rivard (photo from Genetics Generation website)

(In a similar vein, on April 3 USD sponsored a well-attended interdisciplinary panel discussion on ethics and genetic testing, with a focus on the highly controversial direct-to-consumer genetic testing service 23andMe. Dr. Rivard organized the event. I plan to write more about it in a future article.)

Ultimately, the interdisciplinary approach can and should seek to solve problems – in this case, the dilemmas of genetic testing and the dire need for treatments for neurological disorders that strain millions of families and the nation’s caregiving system.

Dr. Rivard’s efforts embody the capacity of academic institutions to teach and reflect. Though some criticize higher education and especially the liberal arts for their purported ineffectiveness in preparing young people for the workplace and life, we should recall that the germination of ideas in universities produces numerous benefits for society.