Do we need to shock the world to strengthen the Huntington’s disease cause?

May is Huntington’s Disease Awareness Month. During this time, we in the HD community make a special effort to educate the public and our leaders about the untreatable, fatal genetic disorder that affects thousands of American families.

It’s also a time to reflect on the very meaning of awareness and how we build it.

In our media-saturated world, people often equate awareness with media exposure.

However, from my standpoint as an activist who has worked at all levels of the movement – from local volunteering to statewide stem-cell advocacy to global networking for the upcoming World Congress on Huntington’s Disease – I view the quest for media exposure as a necessary but hardly sufficient condition for awareness-building.

Disease and the public eye

Some recent news items highlight the importance of media exposure, its connection to awareness, and the potential drawbacks of over-emphasizing exposure.

The revelation by actress Angelina Jolie that she had undergone a preventive double mastectomy after testing positive for a breast cancer gene led a sufferer of a lesser-known disease, dystonia, to publish a commentary on the difficulties of building support for research for her condition.

“If I told you what my issue was, you would probably shrug and reply that you’d never heard of it,” wrote Allison Hersh London, the chairwoman of the Young Leadership Council at the Bachmann-Strauss Dystonia and Parkinson Foundation, in an article titled “Disease and the Public Eye” in the May 18 edition of the New York Times. “There aren’t any public service announcements about it or telethons. No Angelina Jolies to bravely inform the world. Just people like me, in supermarket checkout lines.

A movement disorder, dystonia causes involuntary muscle contractions resulting in twisting and repetitive movements.

“And this, I realize, is at the core of a problem that extends beyond me and my condition and that affects the way all of us respond to illnesses, some of which are the subject of public attention — and resources — and some of which are not.”

Sound familiar? It’s what the HD community said for decades. The only famous American to die of HD, Woody Guthrie, left us almost 50 years ago.

But now read what London says about HD:

“It’s odd to find yourself envying people who have diseases that get more attention than yours,” she wrote. “But I can’t help it. Dystonia is quite rare but, by some estimates, there are more people who have it than have Huntington’s disease, A.L.S. and muscular dystrophy combined. So the simple prevalence of an illness doesn’t explain why some illnesses are better known and better studied than others.”

Although recognizing that dystonia isn’t neurodegenerative or fatal, London uses the very same tactic of comparing disease numbers that some of us in the HD community – including myself – have used to justify more attention and research dollars for our disease.

What’s odd for me as an HD advocate is to see Huntington’s referred to in this manner. Despite HD’s occasional presence in the news and entertainment media over the past five decades, most people in the supermarket line still would say: “never heard of it.”

HD people do know about dystonia, however. In fact, before my mother was tested for HD in 1995, one doctor first thought she had that disorder. In addition, many HD patients do have dystonia as a symptom.

Citing a research study called the “Katie Couric Effect,” London affirms that a celebrity connection to a disease “can have a substantial impact on what the public does.”

London repeats what we’ve all heard: “Awareness generates funding, and funding generates research, which can lead to enormous life-changing differences for people who struggle with illnesses you probably haven’t heard of.”

Nevertheless, she concludes, “what’s most important is telling people about the disease” on an individual level.

‘I Wish My Son Had Cancer’

In England, Alex Smith, a father fighting to save his son Harrison from the fatal condition known as Duchenne muscular dystrophy, took out an ad in London’s Evening Standard.

The ad photo (above) could just as easily represent a parent from an HD family, like the one I took at last year’s HDSA national convention of little Kayden Bujnowski, at risk for developing juvenile HD, her HD-afflicted mother Heather Lewis, and her father Jason Bujnowski (see below).

However, in the case of Harrison, the parents and the ad agency headlined their ad with the words “I Wish My Son Had Cancer.”

“Harrison, my 6 year old, has Duchenne Muscular Dystrophy,” the ad states. “He’s one of 2,500 sufferers in the UK who’ll die from it, most before they’re twenty. Unlike cancer, there’s no cure and no treatment. And because you’ve never heard of it, very little funding either.”

"So far, the finished ad has received considerable support among other parents of children with Duchenne," journalist Meg Carter wrote about the ad, noting that people from far away as Brazil have donated a total running into the thousands of British pounds towards research for treatments. "However, some online comment on the charity's Facebook page has questioned the merit of, in effect, setting up different childhood illnesses in competition for donors' support."

As I wrote about Jolie’s preventive operation, people in the HD community would jump at the opportunity to reduce their level of risk for a disease that is 100% genetic and eventually strikes every carrier of the gene.

Indeed, we are desperate for treatments.

However, I cannot recall any instance in which a family or HD organization went to such extremes to generate publicity and funds.

Many forms of awareness-building

In seeking media exposure, we in the HD and other disease movements attribute to it an almost magical power to solve all of our problems and instantly bring the cure.

In the process, we can lose sight of the many other, equally important forms of awareness-building.

Practically everything we do in the fight against HD involves awareness-building: the doctor-patient relationship, informing people in our workplaces and community, and advocating in the public arena for such issues as stem cell research and passage of the Huntington’s Disease Parity Act.

Awareness-building requires relationship-building.

All of this is hard work. And it lacks the glamour of the fifteen minutes of TV fame or a 700-word newspaper op-ed piece.

Self-awareness first

The most important form of awareness-building takes place in our families and at the level of the individual affected by HD.

Because of the fearful symptoms and deep stigma associated with HD, so many of us hide in the terrible and lonely “Huntington’s closet.” The first step in awareness is to exit that closet and strive to build a family conversation about HD.

In our rapidly advancing biotechnological era, in which scientists have solved many of the mysteries of HD and opened the way to potential treatments, awareness-building also means confronting challenges such as genetic testing and grasping why it’s significant that we join research studies and clinical trials for defeating the disease.

It all begins with each of us. In building self-awareness with respect to HD, we can take the next big step of talking to a relative, joining a support group, visiting an HD clinic, and, when the moment is right, sharing our stories in the way that so many HD families do in the daily e-mail features of the Huntington’s Disease Society of America (HSDA) in May.

Deep pockets and working behind the scenes

It’s understandable that people with dystonia, Duchenne’s, or Huntington’s want to persuade or even shock the public into supporting their cause.

However, most of the process of fighting a disease takes place in physicians’ clinics and scientists’ labs. In America, a vast biomedical and pharmaceutical system discovers, produces, markets, and administers treatments. The politics and finances behind this system operate far from the public eye and, usually, media scrutiny.

In the fight against Huntington’s disease, the dogged determination and leadership of individuals such as Marjorie Guthrie, Woody’s widow and the founder of HDSA, and the Wexler family of the Hereditary Disease Foundation proved crucial in building both the public and self-awareness of the HD community and paving the way to key discoveries that have brought the hope of treatments.

Since 2003, however, the leadership in HD therapeutic research has come largely from the CHDI Foundation, Inc. Backed by a group of anonymous donors, CHDI spends tens of millions of dollars annually to fund drug-discovery projects. It also holds highly technical conferences to discuss the worldwide efforts to find treatments.

CHDI works without celebrities. While it has made waves in the world of science, it quietly goes about its work towards one goal – stopping Huntington’s disease – albeit HDSA shoulders the responsibility of advocacy, awareness, and services to HD families.

In the context of our biomedical system, CHDI illustrates a key point: having deep pockets and working behind the scenes can play as large a role – if not greater – in combatting a disease as public awareness.

HD scientists do find inspiration in the stories of HD patients.

However, they are also motivated by the deep curiosity characteristic of science researchers. HD provides a daunting challenge, one that has attracted some of the best scientific minds of our era. Additionally, it serves as a model for studying other genetic and neurological conditions, and the tools and techniques used in HD research can be applied to other scientific questions.

The momentum of science means that diseases even rarer than HD are benefitting from increased research and funding, as pointed out by Carl Zimmer in an article on fibrodysplasia ossificans progressiva, a genetic disorder that disables people by causing them to grow extra bones, in the June 2013 issue of The Atlantic. HD affects an estimated 1 in 10,000, the bone disorder 1 in 2 million!

“The medical establishment itself has shifted its approach to rare diseases, figuring out ways to fund research despite the inherently limited audience,” Zimmer observed. “Although rare diseases are still among the worst diagnoses to receive, it would not be a stretch to say there’s never been a better time to have one.”

In discovering a drug for a disease like HD, many important parts of the story will emerge only years later. Some aspects may never reach the public arena.

What counts most is stopping the disease.

The gifts

Christmas brings the profoundly sad reminder of receiving the news of my mother’s diagnosis of Huntington’s disease on December 26, 1995. She died of HD in 2006 at the age of 68. Remembering her struggle also reminds me that I tested positive for HD in 1999.

This year, however, I’ve been preparing for Christmas differently by reflecting on the wonderful gifts I’ve received.

Life itself is a precious gift. I was born because of my parents’ love for each other and their desire to raise a family.

My life is also a gift from God.

I am extremely lucky to have the gift of health. Each day, I am pained by the suffering endured by families afflicted with the disease. However, as I look forward to my 53^rd birthday on December 31, I am deeply thankful to have remained asymptomatic past the age of my mother’s probable onset, her late forties.

The gift of health allows me to continue my work as an HD advocate, fighting for those who cannot fight for themselves and promoting the search for effective treatments.

Just last month I exited the terrible and lonely“Huntington’s closet” by revealing my story and using my real name, Kenneth P. Serbin, in a mainstream publication. On December 16, I repeated the experience in Brazil, where I am a recognized scholar and regular guest writer in the press; I received a tremendously moving response from friends and even former leading government officials.

For the first time in the 17 years of my journey with HD, I can advocate for the cause freely and openly, thus multiplying the impact of my efforts and honoring the memory of my “HD warrior” parents.

More than ever, I feel the need to help others. This desire and responsibility form the basis of all the great religious traditions.

In my Catholic faith, the advent of Baby Jesus, who came to save the world from imperfection and death, culminated in one of the greatest commandments to humankind: to love our neighbors as ourselves.

My family's miniature nativity scene, made by an artist in Latin America

In the wake of my exit from the HD closet, I have achieved an incredible sense of lightness and greater closeness to others. Friends have seen it in my face and felt my passion for the cause.

“The truth will set you free,” Jesus said. In recent days, I have also felt closer to God than I have in a long time. Thinking of the drive to defeat HD, I have recalled His mission: “I have come that they might have life, and have it more abundantly.”

My greatest gift is my family.

In January 2000, my wife Regina and I received the gift of our daughter Bianca’s negative test for Huntington’s while in the womb.

Together Regina and I nurtured her, and now we must help her navigate the challenging and rewarding teenage years.

In this very difficult past week, as we Americans have struggled to comprehend the senseless Newtown school massacre, I have frequently recalled President Barack Obama’s beautiful description of parenting: “Someone once described the joy and anxiety of parenthood as the equivalent of having your heart outside of your body all the time, walking around.”

Faced with so many extraordinary demands and risks, HD families especially feel that anxiety. Yet we also have great gifts – including an immense capacity to appreciate the gift of life and the impact that a disease like HD can have on children.

My challenge is to preserve my gift of health so that I can love and support Regina and Bianca for many years to come. 

To you and yours, Merry Christmas, Happy Holidays, and a 2013 filled with the gifts of hope and good health!

Our 2012 holiday greetings photo, taken at Yosemite National Park

The definitive step out of the Huntington’s closet

Today I take my most definitive step out of the terrible and lonely “Huntington’s closet”: using my real name, I have published an article about my struggle against HD in a mainstream media outlet.

Titled “Racing Against the Genetic Clock: A historian carrying the gene for Huntington’s disease hopes to galvanize increased support for brain research,” the article appears in today’s online edition of The Chronicle of Higher Education. It will also appear in the November 9 print edition.

“Scholars often shift focus over the course of a career to pursue a discovery, a new job, or a need for variety,” begins the article, which explains my exploration of the history of science as a way to expand both my advocacy and career. “For me, it was learning that I will, at some point, develop a terrifying, untreatable, fatal brain disorder.”

With great sadness, I wrote of my mother’s demise, the discovery that I had inherited the HD gene from her, and my ongoing advocacy to raise awareness and increase funding for research towards treatments.

“At 52, I have reached my mother's age of onset,” I conclude. “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.”

You can read the full article by clicking here.

For the public, and in my professional circles, I willingly share that that Gene Veritas is Kenneth P. Serbin. I will still write this blog as “Gene Veritas” (the “truth in my genes”), my trademark in the HD world, the persona that in many ways symbolizes the struggles of our community and, indeed, all disease-gene carriers.

Gene Veritas, aka Kenneth P. Serbin, at Alnylam Pharmaceuticals in 2011.

An arduous and painful transition

I had hid in the HD closet ever since my mother’s diagnosis in late 1995.

Many times I wanted to shout out to the world about my mom’s terrible downfall and my own potentially frightening future with the disease, but, fearful of genetic discrimination, I always kept quiet, swallowing my difficult feelings about HD.

In 2010, however, after the passage of federal health care and anti-genetic discrimination legislation, I started making public speeches about my predicament.

My gradual exit from the HD closet has proved arduous and painful.

On October 25, the day I received the news of my article’s acceptance for publication, and for a few days thereafter, I felt especially overwhelmed and apprehensive.

I thought of how tens of thousands of Chronicle subscribers will have access to my article, and many more people may read it by simply viewing it for free on the publication’s website.

Above all, I worried about how to tell my co-workers and superiors. With the Chronicle article, I will be deliberately demolishing the near-perfect firewall that I painstakingly constructed between my professional life and HD advocacy.

Some may be shocked to learn of this hidden dimension of my life, and they will likely worry about me, too.

Luckily, when I inform them about the article, I’ll also tell them that my latest checkup with my neurologist, on October 30, ended with a clean bill of health on the HD front. I’m not required to do so, but, after revealing the terrible symptoms I could suffer, I also want them to know of my success so far in remaining asymptomatic (click here to read more).

Controlling my own story

In the last few days, however, I achieved a sense of calm, and, in the final hours before the publication, even a bit of jubilation.

I’ve been able to rely on my wife, close friends, and members of the HD Facebook community for moral support.

In anticipation of the article’s appearance, I actively sought their advice about how to reveal the article to my colleagues. They’ve all helped me put this moment in perspective.

For those who advised against coming out, I’ve described the Chronicle piece as a “preemptive strike.” Rather than let others learn about my HD status by stumbling upon it on the Internet, hearing through the rumor mill, or becoming aware only when my symptoms start, I am taking the initiative to “control the narrative of my own story” about HD.

This approach provides me with the opportunity to properly educate friends and colleagues about HD and perhaps even build a support network to assist me should I become disabled.

Feeling lighter

Although this definitive step out of the closet remains a momentous event for me, I have come to see it as an opportunity to expand the Huntington’s cause and to help defeat the very stigma of HD that originally sent me fleeing into the closet.

I will also feel immense relief and joy at being able to talk openly about HD at any time and with any person.

In discussing the Chronicle piece with a close professional colleague and friend the other day, I was thankful to hear his prediction that this experience, fraught with so much doubt  about the balance between advocacy and privacy, would ultimately bring me closer to my wife.

Indeed, far too much of our energy has gone into insulating ourselves instead of reaching out for the support we need on a personal level and in terms of the cause.

I nearly cried after my friend assured me that I would feel an immense burden lifted from my shoulders.

“You’re going to feel lighter,” he said with confidence.

Amen to that!

I know the road ahead is unpredictable, and that I will feel many things besides lighter, but for now, I’m just glad I can tell people how I’m racing against the genetic clock.

( I dedicate this article to the memory of my mother Carol Serbin, who died on February 13, 2006, after a long battle against HD, and of my father Paul Serbin, the “HD warrior” who tirelessley cared for her for more than ten years and who died with a broken heart on September 25, 2009. I know my parents would have been proud of my Chronicle article.)