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 incredible lightness – and responsibility – of exiting the Huntington’s closet

A month after definitively exiting the Huntington’s closet by publishing my story in the mainstream media, I feel an immense relief.

As one good friend predicted, I now feel lighter.

After learning of my mother’s diagnosis for HD on the day after Christmas 1995, I built a near-perfect firewall between my advocacy for the Huntington’s Disease Society of America (HDSA) and my career.

Nothing symbolized that firewall more than my e-mail management. On thousands of occasions I zealously guarded the firewall by sending messages from five different accounts and often triple-checking the sending address and especially the addressee.

Now I no longer worry! I relish communicating about Huntington’s disease on my main e-mail.

Speaking or writing openly about HD is an utterly new and liberating experience.

“I feel now that I can be more fully ‘me,’” I wrote to one work colleague, who first learned of my story with the publication of my article in The Chronicle of Higher Education on November 4.

I also feel closer to everybody – from my wife and daughter to all of the people at work I had kept in the dark about my risk for HD and my work as Gene Veritas.

Gene Veritas, aka Kenneth Serbin (photo by Bianca Serbin)

In my corner

The feeling of lightness grows when I think of the immense emotion and support my story stirred among friends and professional colleagues.

“Only now do I believe the social and political climate in America have evolved to the point where I can reveal my journey living with the gene for Huntington’s disease,” I wrote in an e-mail notifying my work colleagues about the article. “Please know that what will most certainly come as a shock to you is something that I have come to terms with over the past 17 years. I am also happy to report that I received a clean bill of neurological health at my most recent checkup on October 30.” 

Most were stunned to learn that I had tested positive for HD and, together with my wife Regina, faced the travails of leading a double life, testing our daughter Bianca for HD in the womb, and witnessing my mother’s demise.

The very first comment, and perhaps the most significant, came from the person whose reaction I worried about the most, my dean (and, essentially, boss) at the University of San Diego, Dr. Mary Boyd.

I was immensely relieved and deeply moved to read her e-mail: “Thank you for your courage in sharing your story. You are a true inspiration and I am so proud that you are my colleague.”

“Thanks for your kind words of support,” I responded. “It means the world to me that you are in my corner.”

Dr. Boyd, who sent news of my article to her Twitter followers, later asked if I would grant an interview for a feature article on the university website. On November 20, I gave the interview and did a photo shoot with Regina and Bianca. The article and a video will appear soon.

Sources of strength

Several colleagues were, not surprisingly, a bit hurt that I hadn’t confided in them sooner. Still, they understood when I explained that I couldn’t risk harming my career and by extension my family.

A number of colleagues had never heard of HD or had little knowledge of it. One actually knows a local family facing the disease and promised to put them in touch with me. Along with her husband, another responded immediately by donating to HDSA.

Others recalled their own families’ struggles with neurological disorders. One colleague at risk for Parkinson’s revealed how her father had died of a combination of Parkinson’s and Lewy body disease.

Another, whose sister had just died after a long bout with cancer, began reading this blog after seeing the Chronicle article. “It’s a little hard for me hearing so many voices of people in pain given my recent loss,” he wrote, “but at the same time, I have to tell you, it has been therapeutic in spite of the fact that we are looking at different conditions, … because the family dynamics of people who have to go through this are so similar.”

More than a dozen people left comments on The Chronicle website. “I am also at-risk for HD, and I'm also a budding humanities scholar (recipe for disaster, eh?),” wrote one person. “Your article was very moving, and I am so relieved that your good works will make it easier for the rest of us to live with HD more openly. The stigma can be just as debilitating as the disease.  I’m also sending you an email, and I would love to help with advocacy and awareness.”

Such comments, e-mails, and my colleagues’ gestures, including some very special hugs, provided me with incalculable strength to carry on the fight against Huntington’s.

Doing our jobs

“Yes, I am feeling much lightness, one the one hand, but, on the other, an even greater responsibility and determination in carrying this fight forward,” I wrote one friend and former San Diego colleague.

To another fellow professor, I expanded on the idea of responsibility: “We all must be leaders – in our families, our jobs, our churches, our communities. I am simply doing the job that we are all cut out to do in life.”

People sensed that I don’t dwell on the negatives of my predicament. Like all of us, they proceeded with their own challenges. Hardly missing a beat, I maintained my own routine at home and at work.

However, I also renewed my commitment to defeat HD.

On Friday, November 16, I helped out at HDSA-San Diego’s 12^th annual Celebration of Hope Gala. Afterwards, I pulled an all-nighter to post an article about the gala and efforts by the honored company, Isis Pharmaceuticals, Inc., to set up a clinical trial of a potential drug for attacking HD at its genetic roots.

I arranged for a Portuguese translation of my Chronicle article to appear in one of Brazil’s most prestigious newspapers, the Folha de S. Paulo, later this month. (My academic specialty is Brazil, and I speak Portuguese.) In September 2013, Rio de Janeiro will host the World Congress on Huntington’s Disease, which I plan to attend. The Southern Alberta Chapter of the Huntington Society of Canada will also republish the article.

With the family holiday greetings cards I mailed last week, I included a slip of paper with the HDSA Snowflake of Hope and Help and a reminder to keep the organization in mind for year-end charitable giving.

I’m going to start wearing my blue HDSA “Care2Cure” bracelet, and I’m going to set up my e-mail program to include a tagline with information about HD and my advocacy in every message I send.

Gene Veritas – again

Each day I am reminded that people are suffering and dying from Huntington’s disease.

In exiting the Huntington’s closet, I want to combat the stigma and fear surrounding HD and galvanize increased support for brain research. This is my job as a public advocate.

However, I’ve also done something to and for my private self. By publicly sharing my gene-positive status, I am assuming it for myself fully for the first time.

All the years of anonymity allowed me to deny that I could get symptoms. As terrible and lonely as the HD closet was, I felt safe inside.

More than ever before, I am Gene Veritas, the truth in my undeniable genes, which include the debilitating and deadly mutation that causes Huntington’s disease. Gene Veritas is also Kenneth Serbin, professor, HD community advocate, husband, and father.

The responsibility is enormous: I must work, in concert with other advocates, to save myself and my family from the ravages of HD.

HDSA’s renewed commitment to critical research

After a budgetary crisis that practically eliminated support to HD scientists in recent years, the Huntington’s Disease Society of America (HDSA) has committed itself to reestablishing a program of research projects critical for developing effective treatments.

In a September 28 e-mail message to “HDSA friends,” HDSA CEO Louise Vetter announced the hiring of George Yohrling, Ph.D., to fill the new position of Director of Medical & Scientific Affairs.

“In the past we have relied upon the volunteer support and consultation of physicians and scientists,” Vetter explained in an interview in San Diego on November 16. “We will continue to do so. But based on what the pace of HD research is right now and our vision to have a new research program, we felt it was the right time to bring that expertise in-house.”

Dr. Yohrling, a molecular neuroscientist, has worked in the HD field since 2000.

“His first job was with an HDSA Coalition for the Cure lab,” Vetter said. “He was funded with an HDSA grant, and he has continued to stay in the field.... He has real expertise in HD, which is incredibly important. His primary task is to launch a new research program for the organization.”

The hire marks the first step in fulfilling a series of goals outlined in HDSA’s first-ever strategic plan, formulated after broad consultation with the HD community in 2011 and 2012, and launched by Vetter at the annual HDSA convention last June (click here to read a report on the drafting of the plan).

In response to recent criticisms of HDSA because of the drastic decline in research support (click here to read more), Vetter stated that HDSA is working “to have the most impact for the most people and help set the course for the best care and the best treatments as soon as possible.”

(Watch the entirety of my interview with Vetter in the video below.)

Avoiding repetition

In crafting the new research program, HDSA planners took into account the organization’s limited budget (about $8.5 million annually) and strived to avoid duplicating efforts by other HD initiatives focused strictly on research, Vetter added.

Those initiatives include the CHDI Foundation, Inc., which spends tens of millions of dollars annually, and the Hereditary Disease Foundation (HDF). Unlike HDSA, they do not offer support groups, care centers, or other forms of patient outreach.

Both Vetter and Dr. Yohrling emphasized that the new research program will focus on HD research in humans and human cells. This contrasts sharply with – but also necessarily complements – the research conducted on animals.

Focusing on humans

“We’re calling it ‘Human HD Biology Project,’” Dr. Yohrling said in a November 26 interview. “All of the observations will be from human HD patients, and not from a worm or mouse or fly. There’ll be no arguing about the physiological relevance of the data we will acquire.”

Dr. Yorhling explained that the project will function like a post-doctoral or clinical fellowship program. Young scientists will partner with the directors of HDSA’s 21 Centers of Excellence for Family Services and Research, which see patients and other HD family members on a regular basis. It replaces the Coalition for the Cure grant program, which ceased to exist with the onset of the budget crisis.

Dr. George Yohrling (CHDI photo)

The new researchers will focus on tasks such as the search for human biomarkers – specific signs of the disease within bodily fluids or tissues or the brain, for example – that will become crucial for measuring the effects of potential remedies.

“These are studies, not clinical trials, but their outcome could and should help support, drive, and steer clinical trials,” Dr. Yohrling explained, adding that he is currently recruiting HD specialists to serve on the program’s advisory committee, which will review the applications from researchers.

Grants will be relatively modest, Dr. Yorhling indicated. “These won’t be $250,000 jobs,” he said. However, because of the clear emphasis on non-redundancy, “hopefully we’ll get a big bang for our buck,” he added.

HDSA has already raised funds to kick off the project, Dr. Yorhling said, although both he and CEO Vetter recognized the need to increase fundraising to expand support for research.

HDSA hopes to issue its first call for proposals in early 2013, Dr. Yohrling said.

HDSA also will continue to support an important consortium of HD stem cell researchers, he noted.

A pivotal player

Dr. Yohrling’s diverse experience in HD research makes him a pivotal player in the search for treatments.

After receiving his Ph.D. in pharmacology from Wake Forest University in 2000, he became the very first post-doctoral researcher in the lab of Jang-Ho Cha, M.D., Ph.D., at Harvard Medical School/Massachusetts General Hospital. (Dr. Cha is a member of the HDSA Board of Trustees and will chair the HD Human Biology Project Advisory committee.) During his two years under Dr. Cha, he “got to see and interact with HD firsthand.”

“Any human being with a soul in their body” would be motivated to help, Dr. Yohrling recalls of his initial, serendipitous contact with Dr. Cha and the HD team while in Boston searching for a post-doctoral position. “I was hooked. I felt it was my calling.”

Under Dr. Cha, Dr. Yohrling also received an HDF grant.

Dr. Yorhling spent the next five years conducting Alzeimer’s disease research at the pharmaceutical giant Johnson & Johnson, followed by two years at Galleon Pharmaceuticals, Inc., researching respiratory conditions.

In 2009 Dr. Yohrling joined CHDI, which he described as a “dream” of an opportunity to focus fully on HD research in a large, resource-rich organization. There he served as director of target assessment and then director of systems biology-pathway assessment. Working with firms and leading HD scientists, he managed millions of dollars in research contracts. He also led the development of HD Research Crossroads, an online repository of HD-relevant drug target validation data.

Impacting patients with ‘all hands on deck’

CHDI was “more a behind-the-scenes operation,” Dr. Yohrling observed. “HDSA is more of a grassroots, family-oriented foundation. The opportunity to get back to that, while also getting involved in human biology research, was an opportunity too good to ignore.”

Responding to the argument that HDSA should let others concentrate on research while putting funds strictly into social services, Dr. Yohrling observed that the HDSA board and HD families want the organization “back involved in research and not to leave it up to the other entities like CHDI, HDF, and the government,” although his key responsibilities will include maintaining “an open line of communications” with those and other HD research organizations.

“We’re really glad to have someone like George working at HDSA,” said Robi Blumenstein, the president of CHDI Management, Inc., which carries out the day-to-day tasks of CHDI’s mission. “It just furthers our ability to collaborate.”

“I think that HDSA is well-positioned with their centers of excellence around the country,” Dr. Yohrling continued. “This is an incredible resource. It’s a huge benefit that HDSA has over other foundations or organizations, this access and close connection to the patients. A research program, although it might be limited initially, if the money is use properly and thoughtfully, can have a huge impact on the lives of patients.”

“We need all hands on deck,” said Vetter, adding that everybody in the HD community can take small but important steps to help the cause by keeping in touch with attending physicians, learning about HD research, and participating in clinical trials and research studies. “As we look at the dawn of a new time of HD therapeutic development, the only way those drugs are going to come to market is if people get involved. Getting involved is the most important thing that the HD community can do right now.”