Globalizing the fight against Huntington's

The participation of HD families in the search for treatments and a cure for Huntington’s disease is going global.

Starting in July 2011, registries of HD patients, at-risk individuals, and family members from different parts of the world will be combined into a single database.

Called “Enroll-HD,” this new effort aims to make it easier for scientists to understand HD, identify potential participants in crucial clinical trials, and therefore speed the process of finding therapies and a cure.

The Enroll-HD sponsor, the CHDI Foundation, Inc., released information on the new program on November 19. Backed by an anonymous donor who has contributed tens of millions of dollars, CHDI is informally known as the “cure Huntington’s disease initiative.” CHDI collaborates with hundreds of scientists from around the world.

Combining databases

Enroll-HD will combine the existing REGISTRY and COHORT databases.

REGISTRY, a Europe-wide study, is run by the Euro-HD Network. Administered by the Huntington’s Study Group, COHORT stands for “Cooperative Huntington’s Observational Research Trial.” It operates in North America and Australia.

Both databases collect information about the genetic status, lifestyle, medical history, and disease progression of patients and gene-positive individuals.

Enroll-HD also will include participants from the newly founded Latin American network of HD-affected families, physicians, and researchers, the Red Latinoamericana de Huntington. Enroll-HD also will obtain information from countries such as Singapore, South Africa, and South Korea.

“It’s a natural progression to combine the successful HD observational clinical studies into one worldwide effort that will harness the power of greater numbers of research participants,” said Dr. G. Bernhard Landwehrmeyer, a professor at the University of Ulm, Germany, the chair of Euro-HD, and the principal researcher for Enroll-HD.

People already participating in REGISTRY and COHORT will continue to consult with the same physicians at regular appointment times.

To learn more about Enroll-HD, please click here.

Latin America’s contribution

One of the most striking aspects of Enroll-HD is the inclusion of Latin America, our neighbors to the south.

Venezuela in particular has played an important part in Huntington’s research. Dr. Nancy Wexler of the Hereditary Disease Foundation spent two decades researching the world’s largest extended HD family, located in the Lake Maracaibo region. Dr. Wexler developed the pedigree (traced the genetic history) of more than 18,000 individuals and collected more than 4,000 blood samples. This pioneering work helped lead to the discovery of the HD gene in 1993. (To learn more, see her sister Alice Wexler’s book Mapping Fate.)

About 580 million people live in Latin America – nearly twice the population of the United States. In rough terms, this means that some 60,000 people in the region could have Huntington’s. Studying these individuals and their families will provide a greater understanding of HD’s devastating effects and its terrible social impact.

It could also benefit HD families victimized by ignorance and poverty. Although conditions have improved for many in recent decades, most Latin Americans are still poor by our standards, and many have little or no access to quality education. In his visits to Colombia, HD activist Phil Hardt observed HD patients living in deplorable conditions – some even in old jail cells.

The Red Latinoamericana de Huntington can help raise awareness about HD throughout the region and perhaps stimulate government support for care programs and research. It also will tie the HD families and researchers from Latin America’s countries more tightly together – and also into the global network of researchers and care and advocacy programs.

More and faster research

Above all, by including Latin America’s HD families on the rolls of potential participants in clinical trials, Enroll-HD will vastly expand the possibilities of testing more drug candidates and carrying out faster research.

The Huntington’s research community faces an extremely difficult problem. As an orphan disease, there may not be enough subjects for trials as potential drugs become ready for testing. This problem is compounded by the fact that researchers have now identified more than 700 potential drug targets. Most trials minimally require dozens of participants, and others utilize hundreds and sometimes thousands of subjects.

In Europe, HD-affected and gene-positive individuals volunteer in sufficient numbers. Ironically, Americans do not. Despite this country’s power and overall wealth, denial, fear, and ignorance still dominate many families affected by HD. This lack of American participation makes Enroll-HD even more important.

Guinea pigs?

Some might be concerned that Enroll-HD could become an attempt by scientists from rich countries to use people from poor nations as guinea pigs – that is, subjects tested unethically.

Fear of this kind of unequal relationship definitely exists in Latin America. I have frequently heard such concerns during my own historical research and travel in the region over the past quarter century.

But it’s unlikely that Enroll-HD will proceed with any kind of negative or arrogant attitude. All Enroll-HD participants will be protected by the strict protocols that govern research on human subjects.

The official Enroll-HD press release reassured current and future participants that “your samples will continue to be safely stored in the same biorepositories where they are now kept and all information about you will be securely stored in accordance with applicable local laws and regulations regarding the protection of your privacy.”

In addition, CHDI, European researchers, and Latin American representatives held on-the-ground preparatory meetings in Rio de Janeiro, Brazil, in February and Buenos Aires, Argentina, in June. The Rio meeting included representatives from Brazil, Argentina, Chile, Cuba, and Venezuela. Colombian and Peruvian representatives likely will participate in the future.

Reactions to the project

“I went to Rio because I wanted to extend a message of Hope to those in Latin America,” Dr. Ignacio Muñoz-Sanjuan, an HD researcher and the CHDI representative at the Rio meeting, wrote in his HD science blog. “This is not an American or European enterprise. It's a global fight to find a cure, which should be made available to all, rich or poor, in N[ew] Y[ork] or Maracaibo. But I also went there because we need more people to work with us. I need every affected person to participate: by donating blood, by speaking out, by enrolling in observational studies, in clinical studies. We simply cannot do it without the patients and the people at risk.”

Taíse Cadore, the vice-president of the Associação Brasileira de Huntington (Brazilian Huntington’s Association), wrote in a report that her organization “left the meeting with a great sense of optimism. We recognize the importance of our role in the development of this project and hope to be counting on the participation of our families.”

“The Red Latinoamericana de Huntington is very excited to become a part of the global Enroll-HD initiative and collaborate in this way with the international HD research community to better understand and treat Huntington’s disease,” Rodrigo Osorio, a native of Chile and the president of the Latin American organization, said of the official launching of Enroll-HD.

Bernhard Landwehrmeyer (right) converses with Rodrigo Osorio at the CHDI research symposium in Palm Springs, CA, in February (photo by Gene Veritas).


Inspiring global involvement

As a Latin America scholar and an HD-positive person who lost a mother to Huntington’s disease in 2006, I felt especially heartened with Enroll-HD’s recognition of the global character of disease and the need to include people of all continents in the search for treatments and in the resultant benefits.

I was especially happy to see my friends at the Brazilian Huntington’s Association receive the attention they deserve as potential contributors to the fight against HD. Without wealthy benefactors or government support, they have fought long and hard to build their organization solely on the grit and donations of HD-affected families.

Their efforts should inspire HD families in America to come out of the woodwork and redouble our efforts to strengthen our own community, educate the public about HD, and prepare for participation in clinical trials. (I will write more on the Brazilian association in my next entry.)

Ultimately, Enroll-HD can help build global awareness about the need to cure Huntington’s and other neurological disorders. We all share a common condition and, as we now understand, only together will we defeat HD and these other maladies.

Enjoying the life we have left

Confronting Huntington’s disease is a full-time job. Families and caregivers must constantly watch over their stricken loved ones. At-risk individuals often struggle for years over the decision to get tested. And asymptomatic gene-positive people like me wonder daily when and how the symptoms will strike.

One big lesson that at-risk and asymptomatic HD-positive people need to learn is that we all need and deserve to take a break from time to time. If not, worrying about the disease can completely consume our energies and leave us frustrated with the fact that we have given our lives over to HD.

Lately I’ve had this feeling myself. I have become overwhelmed with worry about HD and the movement to stop it.

So I decided it was time for my own break.

Preserving the candle

On October 15, I met up with Dr. Martha Nance at a reception for the Huntington Study Group (HSG) scientists participating in a research conference in San Diego. Dr. Nance is a specialist in HD and other brain disorders and regularly reads my blog. We attended Yale together in the late 1970s.

Dr. Nance pulled me aside and offered some friendly advice. “I’m not your physician,” she said with a shy and caring smile. “But your recent blogs have concerned me. Don’t feel that you have to do the blog every week. It’s okay to do less, especially because you’ve done so much. Don’t burn the candle at both ends.”

She had caught me in the midst of yet another streak of HD-related activities: working dinners, meetings, and visits to local drug-discovery companies focusing on treatments for HD. The next morning, a Saturday, I awoke early to return to the conference site to listen to HSG scientists present some of the latest research news. I didn’t get home until late afternoon.

I indeed had done a lot with the HD movement, but the fear of getting symptoms and my commitment to the movement left me feeling as if I had the world on my shoulders. Dr. Nance’s words helped remove a huge part of that burden.

Wisdom about HD and life

They also led me to ponder my next steps in the HD movement and my strategy to stave off symptoms.

I remembered how one at-risk board member of the San Diego chapter of the Huntington’s Disease Society of America (HDSA-San Diego) resigned about the time I became involved with the chapter in the late 1990s. She had given many years to the fight, she said. Now it was time to enjoy her remaining time without symptoms.

We had that conversation before I tested positive in 1999. I remember feeling sad about her departure. We needed people like her in the fight! I couldn’t understand how she could apparently abandon a movement that might save her life.

Whenever one little voice tells me to quit, another quickly pipes up and urges me to keep going.

But now I am beginning to understand the wisdom of that former board member. She needed and deserved a break!

Nights at the computer

These feelings reached a crescendo in the days before HDSA-San Diego’s tenth annual Celebration of Hope Gala, a fundraiser supporting the local HDSA Center of Excellence for Family Services and Research and other HD programs.

I’ve helped with every one of these events, from placing copies of the chapter newsletter I edited onto each chair in the dining room to photographing and writing about the event for the newsletter and our website. One year I even had the winning bid on a great auction item: six tickets to the Macy’s Thanksgiving Day Parade in New York City.

I shared my many cross-cutting feelings about my years in the chapter with my wife, the most intimate witness to my attempts to cope with living positive for HD.

She agreed with the sentiments of Dr. Nance and that former board member.

“How many nights and weekends have you sat at the computer working on HD stuff?” she asked rhetorically. “Those were hours that you could have spent with me and our daughter. You could be exercising instead of sitting in front of the computer. That’s more important for your health.”

I didn’t regret my work, but it suddenly hit me how long I’ve been in this fight. Our daughter – the “miracle baby” who tested negative in the womb for HD – is ten. As she approaches her teens, she will need a strong and healthy father.

If I take good care of myself, I’ll have a better chance of being that father.

My wife was sitting in the bathroom, where she was drying off our dog after a bath with anti-flea shampoo. I sat down next to her to help.

“How rarely I sit down with my family in the evening to relax because of this ‘third job’ with HD!” I wrote later in my blog notes.

The blessed nap

For this year’s gala I came up with the idea to include the international spokesman for the HD cause, Charles Sabine, the Emmy Award-winning former correspondent for NBC television. Charles is HD-positive. I helped organize his part in the October 22 program and also his stimulating visit to our local support group on October 25.

While eating dinner a few nights before the gala, Charles and I exchanged strategies for avoiding symptoms. We’re both 50, so I felt an especially tight bond with him. We talked about supplements, exercise, diet, alcohol consumption, the effects of jet lag on the brain (Charles is English and passed through seven times zones to reach California), and other factors.

Charles tested positive for HD in 2005, and so far he doesn’t show any of the classic symptoms of HD. Over the past several years he has traveled widely to help raise the profile of HD, giving interviews, meeting with HD patients and their families, and speaking at research conferences and other events.

We heartily agreed that ample sleep is probably one of the best strategies for reducing stress and resting the brain. We both try to get a full night’s rest. And we try to nap daily. (By coincidence, I heard a radio report this morning stating that people who get nine hours of sleep per day have better brain performance than those who sleep fewer hours.)

“The blessed nap,” I wrote in my blog notes. “Two 50-year-old at-risk men discussing their naps. Would sound hilarious if it weren’t so dead serious.”

A big night

Speaking to the audience about the distressing experience of living HD-positive, Charles helped set the tone for the evening. One of Charles’ biggest worries is that he won’t be able to share life with his two-year-old daughter Breezy, another “miracle baby” who is negative for HD.

We also received news of great hope: the day before the gala, the California state stem-cell research agency awarded a grant of $3.8 million to Dr. Leslie Thompson of the University of California, Irvine, to investigate potential stem-cell treatments for HD. Along with HD advocates from around the state, HDSA-San Diego spearheaded the effort to make curing HD a priority of the stem-cell agency.

Later in the program I visited the table purchased by Vertex Pharmaceuticals, whose San Diego office has begun seeking possible treatments for HD. Vertex’s commitment to the gala coincided with a presentation about my family’s struggle with HD that I made at the company on September 24.

I thanked Paul Negulescu, the Vertex vice president for research and the head of the San Diego facility, and Beth Hoffman, the vice president of biology, for their commitment to HD, and I greeted all of the eight scientists seated with them. They were the largest delegation of HD scientists in the history of the event.

In addition to Vertex, dozens of other sponsors supported the event, including title sponsor Qualcomm and the presenting sponsor, the Viejas Band of Kumeyaay Indians.


Dr. Leslie M. Thompson of UC Irvine received a $3.8 million grant for HD stem-cell research.


Paul Negulescu and Beth Hoffman at the Vertex San Diego site in La Jolla (photo by Gene Veritas)

Former NFL star quarterback Phil Simms (right) coaches Englishman Charles Sabine (photo by Gene Veritas)

HD is priority: Charles (left) and CBS announcer Jim Nantz helped set the tone for the evening (photo by Gene Veritas)

The evening’s entertainment featured a fun panel discussion with CBS television’s National Football League announcers and producers, including icons Phil Simms and Jim Nantz.

Jim closed the evening with a moving recollection of his own family’s coping with his father’s struggle with Alzheimer’s disease. He reminded the audience that their support of the HD movement was their most important reason for being in the room.

Resigning from the board

As I left the dining room at the end of the evening, I knew I had done my small part to help make it a success. The final tally isn’t in yet, but once again the chapter brought in tens of thousands of dollars for the HD cause and, just as important, increased awareness about the disease.

With a deep sense of accomplishment – but also with the wisdom afforded me by Dr. Nance and that former chapter board member – I decided to resign from the board.

“I’ve put in 12 and a half years working on practically every aspect of our chapter,” I wrote the board. “Lately I have been overwhelmed with HD commitments and need to scale back. As a person who is gene-positive for HD and luckily escaped symptoms so far, I must now concentrate on maintaining my health and spending more time with my family.”

I pledged to continue as a volunteer, concentrating on this blog, articles on HD-affected individuals and families, and reports “about research developments in order to help create hope.”

Feeling more 'normal'

Instead of board meetings, I will once again attend the support group, “my roots in HDSA.” As I’ve written before, HDSA needs to rediscover its initial mission of care. Also, I personally need to care for my own health and family while I can.

I also committed to promoting the chapter “through contacts with local pharmaceutical companies, public talks, assistance to scientists, and my collaboration with CHDI,” the multi-million-dollar “cure Huntington’s disease initiative.”

I’m not abandoning the movement. Far from it.

But I’m going to focus my energies more efficiently, and more towards my family.

And, like that other former board member, on living the life that I have left without symptoms. To live, if at least for just brief moments, as if HD doesn’t exist!

“It’s nice to feel ‘normal’ once in a while!” I wrote in my blog notes a couple days after resigning. “I haven’t felt ‘normal’ for a long time – fears and militancy constantly put me on edge. Need to get off this edge from time to time.”

Progress and optimism

It’s also important for me to take stock of the progress our movement has made – evident in Dr. Thompson’s grant and the many potential treatments being identified by researchers. When my mother was first diagnosed with HD in 1995 (she died in 2006 at age 68), there were no targets!

Today there are more than 700 potential targets! Vertex and other companies and research projects may soon have drugs that reach those targets. (I’ll be blogging soon on Vertex and other research developments.)

That sense of progress gives me hope and confidence that a treatment, and perhaps even a cure, will be found in my lifetime.

“We’re not alone,” I wrote in my blog notes. “The scientific community is out there fighting.”

Of course, nobody can guarantee a treatment or cure. But at least now I can feel optimistic.

Yes, we in the HD community deserve a break, even if only occasionally. And we also need and deserve to fully experience attitudes like optimism. As short as our time may be, we all need to live – and enjoy – the life we have left.

An expedition to the brain

Could the cure of Huntington’s, Alzheimer’s, Parkinson’s, and other devastating neurological diseases finally become the national priority that the millions of us affected by these diseases have yearned for?

We may be one step closer to such a campaign, thanks to the drive and imagination of Maria Shriver, one of our country’s most articulate and outspoken leaders.

Speaking about Alzheimer’s on ABC-TV’s “This Week” news program this past Sunday, October 17, Shriver coined a phrase – “an expedition to the brain” – that could help spark a national campaign against neurological diseases.

“This president (Obama) could say, I want to launch, just like Kennedy launched an expedition to the moon, he could launch an expedition to the brain,” said Shriver. “There are so many secrets in the brain that can uncover the cures for Alzheimer’s, Huntington’s, Parkinson’s, intellectual disabilities, how we learn, how we love, how we remember. All of this is in the brain. Why not have something like that in this country to galvanize people around?”

As someone who is gene-positive for Huntington’s disease, I was overjoyed to hear Shriver bring attention to the disease that took my mother’s life in 2006 and could destroy my own brain, leaving me unable to walk, talk, think, and swallow.

(Click here to watch a video of the program and read related articles.)

An Alzheimer’s “tsunami”

Shriver, the First Lady of California and the niece of President John F. Kennedy, became an Alzheimer’s disease activist after watching the condition afflict her father Sargent Shriver, the founder of the Peace Corps during the Kennedy administration.

Mr. Shriver was diagnosed in 2003. He can still pray the rosary, Maria recalled in another recent interview, but he no longer remembers who she is.

The program included an interview with former First Lady Laura Bush recalling how her own Alzheimer’s-stricken father had forgotten the identity of her husband, George W. Bush, when Bush was governor of Texas. Her father ultimately succumbed to the disease.

Shriver’s appearance followed the release of The Shriver Report: A Woman’s Nation Takes on Alzheimer’s, which describes the enormous financial and personal burden the disease has created for millions of families and for the country as a whole.

Families hit by the disease spend an average of $56,000 on care. An Alzheimer’s “tsunami” is about to hit America, with a projected cost of $20 trillion over the next 40 years as tens of millions of Baby Boomers move into old age.

HD also exacts a huge social and financial cost. An estimated 30,000 Americans have HD, and some 150,000-250,000 are at risk.

Time to stand up

“I think this president and this Congress can stand up and say, ‘This is a national epidemic,’” Shriver said in a separate ABC interview. “We can get a national strategy. If we launch a national endeavor to underscore and find out what's going on in the brain, I think we can get the money.”

Shriver added that both the media and businesses need to pay more attention to the Alzheimer’s epidemic. She proposes changes in national family leave legislation so that more people can take off time for elder care.

Shriver’s prominence and passion for eliminating brain diseases – together with the growing awareness about these conditions and their enormous negative impact – might finally bring them onto the national political radar screen.

The “cure industry” and the brain

I share Shriver’s passion and determination that our country embark on an expedition to the brain.

Early last year, as our country was plunging into its worst economic crisis since the Great Depression, I wrote a blog entry titled “Our economic comeback and the cure industry.”

“America’s call to action today should focus on the elimination of disease,” I wrote. “America proclaimed a war on poverty and another one against drugs. What we need now is a mission to find treatments and cures for all diseases.”

Instead of borrowing our way out of economic crisis, I proposed that we “create our way out” by stimulating the growth of the cure industry. America can and should lead the world in producing cures, and our biotech industry can reap profits and create the kind of high-paying jobs necessary for maintaining our standard of living and economic leadership.

The expedition to the brain and the new cure industry would go hand in hand.

Purpose and urgency

Clearly our country has already begun to move in this direction. In recent months TV journalist Charlie Rose has broadcast The Brain Series, which explains the huge strides being made in brain research.

But we need a greater sense of purpose and urgency to meet the challenges of HD, Alzheimer’s, and other neurological disorders.

Lamentably, I noted in last year’s posting, none of our national leaders has spoken out about this great potential.

“Great commentary!” wrote one of my blog commentators. “How do ‘we’ get our ideas to the legislators for consideration? It HAS to be done.”

Leadership required!

We need leadership. Once again the current electoral campaign is illustrating a dearth of this capacity.

A case in point is the race to succeed Shriver’s husband Arnold Schwarzenegger as the governor of California.

Once again, the candidates are employing attack ads – not new ideas. Jerry Brown appears to be on an end-of-career adventure, and, spending $140 million of her own cash on her campaign, Meg Whitman seems to be thinking more about a future run at the presidency than about solving California’s current problems.

None of the candidates has put forth a convincing proposal for solving California’s debt and jobs crises.

In this climate of uncertainty and indecision, it’s no wonder that an independent movement like the Tea Party is gaining steam.

Shriver as candidate?

Maybe it’s time for Maria Shriver to run for office. Because of her intelligence, passion, and vision, she would make a strong and provocative candidate.

At Yale I studied in a seminar with her brother Tim. He projected an air of both confidence and concern – both still very much evident in his leadership of the Special Olympics, where he became CEO in 1996.

“I’ve tried to shift the conversation here from what Special Olympics does to what it means,” Tim wrote last year. “It’s often seen as a service organization, but I believe that it’s a civil rights movement. Volunteers might think that they’re only coaching or serving water at a track and field event, for example, but they are doing far more. My mission has been to remind them that they are serving the search for human dignity and acceptance.” (Click here for the full article.)

We need more leaders with the Shrivers’ common sense and compassion.

A call to action

The care for people debilitated by disease and the search for cures should also be a civil rights movement that awakens Americans to our biotechnological and moral potential.

The expedition to the brain is one that we should all embark upon. These issues affect Republicans, Democrats, and independents alike. And the cure industry can and should involve all sectors of society: government, business, labor, and academia.

Like the expedition to the moon, the exploration of the brain could produce numerous spinoffs that would benefit people in as yet unimaginable ways. When future generations look back, they will admire the foresight and courage of those like Maria Shriver who inspired us to take the journey.

Let’s everybody in the HD, Alzheimer’s, Parkinson’s, and other neurological disease communities rally around Shriver’s call to action.

It’s time to launch the expedition to the brain!

Losing control, seeking connections

As a person who is gene-positive for Huntington’s disease, I have steadily stepped up my involvement in the cause to stop it. My commitment began a couple years after learning of my mother’s diagnosis in late 1995 and intensified after I tested positive in 1999.

Lately, as I take on ever more tasks in the movement, I should feel great satisfaction. And I do.

But, ironically, I’ve also felt that I’m losing control over my life. I feel overwhelmed by what I call my three jobs: family, work, and the HD cause. And my decision to gradually go public about my status will forever change how people see me.

Big goals

On September 24 I made my first speech in the United States about my family’s struggle against HD.

After blogging on that presentation, I delved into an overdue writing project for my work. A lot is riding on it, because, if successful, it could lift my profile in the world of writing and help me raise awareness about the need to fight HD and other genetic diseases.

I had been working on this project for six months, and when I turned it in last Thursday, October 7, I felt an enormous relief.

But I immediately had to prepare for something even more important: the next day, October 8, I would pay my annual visit to Isis Pharmaceuticals, Inc., for an update on the company’s historic attempt to stop HD.

Genetic guerrillas

My professional writing project is about former South American guerrillas accused of terrorism. Suddenly, I had to shift to thinking about oligonucleotides, or oligos, which are a bit like genetic guerrillas. If all goes as planned, these guerrillas will bind to messenger RNA in the brain cells of HD patients and block the process that kills the cells.

Known as antisense technology, the Isis approach is a rare attempt to stop HD at its genetic roots. So it might lead to a “cure,” although Dr. Frank Bennett of Isis cautions against the use of that word. The more likely outcome is a treatment that becomes one in an array of medicines.

I spent several hours reviewing my past articles on Isis, posters on oligos presented at scientific meetings, and the notes from my conversation with Dr. Doug Macdonald, the director of pharmacology at CHDI Management, Inc., informally known as the “Cure Huntington’s Disease Initiative,” a collaborator with Isis in the oligo project.

My life in their hands

At Isis I was overwhelmed to see Dr. Bennett, the senior vice president for research, and Dr. Gene Hung, the scientist in charge of the HD research project. In my imagination these two men, along with others on the Isis team, hold my life – and the lives of tens of thousands of HD patients and at-risk individuals – in their hands.

Before we even began the interview, I warmly thanked Drs. Bennett and Hung for their dedication to assisting the HD community.

I desperately wanted to hear from them that Isis had found the treatment and was ready to begin testing in humans. In a nutshell, the project is taking longer than anticipated, but the progress is remarkable. (Later I’ll blog in greater detail on what I learned.)

Driving home from Isis, I felt a strange mix of euphoria and angst. I had just received encouraging news, and I had successfully carried out an interview on a difficult and complex subject.

But there are no guarantees the project will ultimately arrive at an effective treatment.

And, I wondered, what if it comes too late? My mother died of HD in 2006 at the age of 68, and, at 50, I am already past the age at which her symptoms began.

I wanted to both celebrate and hunker down.

The grapevine

Several months ago I told a good friend and professional colleague about my situation. This was the first time I revealed HD to anybody in my field. He showed great compassion and even made a donation to the Huntington’s Disease Society of America.

Last night I got a surprise call from a mutual friend and colleague who had heard that I was facing “health issues.” He was concerned that I might have something like multiple sclerosis or prostate cancer.

The inevitable grapevine has gone into action, I thought to myself. I have known this person for well over a decade and have trusted him on many professional questions. I decided to tell him about Huntington’s disease – and about how it was important for me to keep it hidden for so many years.

HIV-positive and HD-positive

The first friend had no inkling whatsoever about HD, but the second knew a family affected by HD and had learned in great detail about its medical and social impact.

He immediately got the picture.

This man is openly gay, and so I knew that he could identify with someone who was gene-positive for a deadly disease. In fact, I had previously imagined coming out to him because of his background as a gay rights activist.

We spent a while discussing the similarities between the situations of HIV-positive and HD-positive people.

Both groups have suffered a horrible stigma, leading to problems of discrimination in the workplace and other areas of life. Success in our shared professional field depends a lot on perceptions, and the slightest hint of an inadequacy of any kind can sour a person’s plans to advance.

And the victims of both HIV and HD face a terribly agonizing waiting game of wondering when and how symptoms will develop.

The end of control?

My friend expressed unconditional support, including future advice on how to come out.

I am sure I’ll be calling on him in the coming months. As I’ve written before, our society has developed a ritual for coming out about HIV and other well-known maladies, but still lacks one for genetic diseases, especially orphan conditions such as Huntington’s.

Although my two friends have promised to protect my identity, I know that as I speak out more about HD, the grapevine effect will grow. There is no such thing as a secret once it’s been shared. I will need to prepare myself for more phone calls, e-mails, and personal questions.

The lack of control over people’s perceptions of my HD status is something that I’ll have to live with the rest of my life.

I become especially distressed when I remember how my own mother lost control of her mind and body as HD ravaged her brain. HD people lose control over their movements and basic abilities such as walking, talking, and thinking.

HD people pass control over their lives to caregivers and, as death nears, to nursing home workers. I vividly remember how my father and later healthcare personnel spoon-fed my mother. It was as if she had returned to childhood.

In the end, nobody controls his or her biological destiny: death. People with devastating diseases have an acute awareness of this fact of life.

New and better bonds

As I approach my own destiny with HD, I will need to build ever stronger ties to people.

Going public will forever eliminate control over my genetic information, but it will also connect me to a growing number of people within the HD community and beyond.

I have long feared going public, but in doing so I can find new allies like the friend who called me yesterday to offer support.

HD could leave me completely dependent on my wife and daughter, so I also need to continue strengthening my bonds with them. If and when they need to care for me, I want that transition to go as smoothly as possible. I don’t want to be a burden, but know I could become one. I want to love and care for them while I can.

Out of the closet and on to the cure

I have taken my biggest step ever out of the HD closet.

Yesterday I gave a presentation to about 50 people at the Vertex Pharmaceuticals facility in the biotech corridor of San Diego. I titled it “Gene-Positive for Hell: My Family’s Fight Against Huntington’s Disease.”

This was the first time I spoke publicly about HD in the United States and identified myself as gene-positive for HD. I had come out to an audience in Brazil in June. (In this blog I will continue to use my pseudonym, Gene Veritas.)

It’s a day I won’t forget, as long as I can stay healthy and not succumb to the symptoms of HD that destroy the ability to remember and communicate.

An emotional preparation

Vertex is a drug-discovery company now turning its focus to Huntington’s. I had met Beth Hoffman, Ph.D., the company’s Vice President of Biology, at the CHDI conference in Palm Springs last February. The company’s philosophy of close collaboration with patients and disease-fighting organizations led to an invitation to speak about my personal experiences.




In the days before my talk, I struggled to find the right formula for the presentation. I knew I'd have to be precise and compelling, because the audience would mainly include highly-educated scientists.

Preparing for it drained me emotionally. I reviewed some short videos I had shot of my HD-stricken mother and my father, the “HD warrior” who cared for her for 15 years until she entered a nursing home in 2005. She died in February of 2006, and my father died on September 25, 2010 – a year ago today.

My ten-year-old daughter, who recently learned of my gene-positive status, watched the videos on my computer screen and saw some of the PowerPoint slides I was setting up for the presentation. I explained to her that I would be making a speech about HD.

On Thursday, September 23, I awoke at 2:30 a.m. with a burst of energy and anxiety. I spent the next two-and-a-half hours finishing the PowerPoint. At 5 I turned off the computer and started my normal morning routine of stretching, breakfast, a shower, and the drive to work.

A big surprise

On Friday afternoon I was only at Vertex for a few minutes when suddenly I recognized a familiar face. It was a neighbor whose daughter attends the same school as our daughter. We shared school car-pooling duties one year, and the two girls played one season on the same soccer team.

“Today you’re going to learn something new about me, something pretty big in my life,” I said as I shook his hand.

I was very surprised to see him. My mind immediately went to work on processing this unexpected bit of data. I had prepared myself to speak to the Vertex audience, but I had not imagined speaking to neighbors.

“You’re really going to go public today and take this all to a new level,” I told myself. “Whatever happens, happens.”

HD’s impact

My presentation compressed 15 years of my family’s confrontation with HD into 45 minutes. I defined Huntington’s as “one of the cruelest of diseases.” Its social impact is immense. HD burdens families with round-the-clock caregiving, financial strains, discrimination, insurance issues, the difficult decision about whether to have children, and the curtailment of many of life’s dreams.

Then I described some of my mom’s symptoms and their consequences. Her wobbly walk, for instance, constantly put her in danger of falling. Once she broke a wrist, and another time she sustained a large gash to her head that required staples.

Next I focused on HD’s impact on my wife and me. I began with my decision to get tested, the result of my wife’s and my desire to have a child and to insure that he or she would be free of HD.

I revealed that we had a difficult time committing to our daughter-to-be until we received the news from our geneticist that she had tested negative in the womb. This, I told the audience, was one of the happiest days of our life.

Juxtaposing a photo of our daughter playing soccer next to another in which she posed with Terry Leach, a victim of juvenile HD, I contrasted our healthy “miracle baby" with her potential fate – and our immense worry and pain – had she tested positive.

I felt as if I were riding an emotional rollercoaster, careening from one sharp curve to another. I relived many intense moments of anger, frustration, and fear. Several times I nearly cried but instead spoke even more passionately.

A big step

I have responded to the challenges of HD by channeling my energies into activism for the Huntington’s Disease Society of America (HDSA). I outlined for the audience the many facets of this work: fundraising, production of the chapter newsletter, website development, advocacy, volunteer recruitment, participation in the HD support group, reporting on research, and my blog.

I concluded the personal aspect of my presentation with some thoughts about “exiting the HD closet.” This was a “big step” for me, I told the audience. It was the culmination of a very long process.

I – and many other people in the HD community – can now breathe a little bit easier thanks to the implementation of the federal Genetic Non-Discrimination Act and the passage of President Barack Obama’s health care reforms, which prohibit exclusion of people with pre-existing conditions from insurance coverage.

Imagine, I told the audience, had these measures been in place 15 years ago when I began my fight against HD? I could have been more open about it all, and would have had far fewer worries about insurance.

Imagining a celebration

After my presentation, the Vertex employees asked questions for about 20 minutes about various aspects of my life with HD. Knowing the intellectual acuity of scientists, I had expected some pointed questions.

But I felt great empathy from the audience. As Dr. Hoffman explained to me, seeing the real impact of a disease on people is far different from a discussion about the disease as seen in a test tube.

During the question-and-answer period, Paul Negulescu, Ph.D., the Vertex VP for research and the head of the San Diego facility, asked how I deal with HD on a day-to-day basis. I gave Dr. Negulescu several examples of the mechanisms I have developed, including the deep catharsis I experience in writing this blog.

Later, alluding to his question again, I said that I want to return to Vertex after the company has found a cure for HD and get drunk with him and everybody else to celebrate!

Vertex has potential drugs in the pipeline for controlling cystic fibrosis – like HD, a genetic disease – as well as one for hepatitis C.

Vertex’s HD program seeks to find ways to correct the action of faulty proteins in brain cells. (I'll write more on Vertex’s strategy later.)

I joked to the audience that they had better hurry up, since another San Diego biotech, Isis Pharmaceuticals, Inc., is also hard at work on a major treatment.

After the Q & A, I mingled with the attendees as they partook of the spread of food and beverages the company had laid out. My neighbor came up to me. “I thought of your wife and daughter in all of this,” he said, referring to the many travails I had presented.

The Vertex approach

My visit to Vertex – along with three other members of the HDSA-San Diego board who saw my presentation – helped build an initial bond between the company and the local HD community. To find treatments and a cure for an orphan disease such as Huntington’s, Vertex and the HD community must work together.

Before and after my talk I spent several hours interviewing Dr. Negulescu, Dr. Hoffman, and other Vertex researchers in charge of HD research.

Vertex is reinforcing its commitment to HD families by co-sponsoring our chapter’s tenth annual Celebration of Hope Gala, set for October 22.

Taking in the moment

After saying good-bye and driving off in my car, I stopped a few yards down the street to get some pictures of a street sign I had seen on the way in. It said “Road to the Cure.”


(Photo by Gene Veritas)

Vertex is strategically positioned to help find that cure, I thought as I contemplated the sign.

It was 6:30 p.m., and all was now quiet at the heart of one of the world’s leading biotech corridors. I paused for a few moments to take in the day and what I had accomplished.

Then I got back in and drove off in the direction of the sunset.

Despite all I had relived that day, I felt a rekindled hope.

'More to lose than ever'

Living gene-positive for Huntington’s disease frequently distresses me as I worry about the inevitable onset of its destructive symptoms and the impact my illness will have on my wife and daughter. I have struggled mightily to cope – a theme of so many entries in this blog.

But, as so many at-risk people have pointed out over the years, the threat of Huntington’s also forces them to put life in perspective and live it more intensely.

In early 2005, as I was just starting this blog, an old friend best summed up my situation by contrasting it with his relatively care-free life: “I envy you. I feel immortal. I don’t believe I’m going to die. But you know you’re going to die, and so you can live your life more fully” (click here to read more).

Life’s priorities

I especially struggled this past week with fear and anger about HD. On September 13, I published “Living in limbo,” in which I described the harrowing “waiting game” that I and so many other people who have tested positive for genetic diseases face as we are forced to imagine a bleak future. (This is akin to what one gene-positive woman calls “genetic roulette.”)

I felt overwhelmed after writing that entry and reading the responses (posted comments, e-mails, and Facebook remarks) of other gene-positive individuals and their relatives.

Feeling a sudden urge to protect my family, life’s priorities flashed through my mind.

I recorded these thoughts in my blog notes:

Our job is to pass down our culture/history/values to the next generation. I feel this acutely. Just as important now to do daughter’s soccer practice as attend an HDSA-SD board meeting. Feel in my bones and my blood: our time here is limited and the prime directive is to guarantee the survival and success of the next generation. Nationally: get rid of debt. Locally: active in community. At home: prepare daughter [for life].

Personal growth

I awoke the next morning at 2:30. I was very agitated and couldn’t get back to sleep. Somehow I got through the workday with the usual good game face, but I didn’t get relief from the agitation and adrenalin rushes until returning from work in the afternoon. I turned off the ringer on the phone and took a long nap. I awoke feeling disoriented.

Luckily, on September 16, I had my bi-weekly session with my psychotherapist, the person who understands my mind probably better than anybody, especially after my mother became ill with HD (and died in early 2006) and my father, the Huntington’s warrior who cared for her for 15 years and died a year ago. Besides the usual worries about HD, I’ve become more anxious because of the approaching first anniversary of his death (click here to read more).

I told my therapist about the difficult feelings generated by the “Living in limbo” entry, including the huge transition I've begun as I become more public about my situation with HD. On September 24 I will make my first-ever public presentation about HD to an American audience. (Click here for an entry on the talk I gave in Brazil last June.)

As we worked together to sort out the painful feelings, we reflected on how I’ve evolved as an activist for HDSA, the Huntington’s Disease Society of America. She also pointed out how much I’ve grown because of the need to confront HD.

A valuable insight

“You have more to lose than ever,” she said.

I interrupted her and asked for a slip of paper to write down this phrase. Right then and there I decided that it would become the topic of my next blog entry.

“You’re right!” I said about her insightful comment.

It’s impossible to know how my life would be today if it weren’t for the threat of HD.

But I believe that I’m a better person in many ways.

Gaining perspective

To begin with, I have indeed gained perspective. The preoccupations of the past now seem like mere details, and I’ve calmed my tightly-wound personality considerably.

The other day my daughter was late for an orthodontist’s appointment. I patiently and quietly waited for her to get ready.

As we got into the car, she asked, “Dad, aren’t you angry that we’re late?” She was wondering why I wasn’t upset with her.

“Will getting upset make the minutes on the clock go backwards?” I asked her. She thought a few seconds and responded, “No.”

“Being late once in a while is okay,” I continued. “Ideally, we should be early for things, so that we’re not late. There are many things we have to be on time for, like school. But it’s not the end of the world if we’re late once in a while.”

In her words, a lot of times I “freak out” about things. But it’s happening less.

It was a small but valuable lesson.

With ever greater appreciation for the gift of life, I’ve become more sensitive to my family’s needs.

A multi-dimensional life

I also feel that I’m a more tolerant person. This helps in my professional relationships and in working with the HD community.

Indeed, my HD activism has built many more layers onto my life: blogging, website development, volunteer recruitment, advocacy, fundraising, the translation of research advances into terms understandable to the HD community, and the building of mutual support within the community. I sometimes feel as I’m living in several dimensions at the same time.

I’ve definitely improved as a writer, because living at risk for HD has led me to explore the depths of human emotions about life and death. I’ve felt the impact of the worst kind of denial, but also the utmost of courage and compassion.

As I’ve written on several occasions, confronting HD has led me to a clearer understanding of my religious faith. I now see faith as going hand in hand with the movement to stop HD.

I feel inspired to help others. I’ve pledged that when and if the cure for HD comes and I finally break free of its destructive shackles, I will channel my energy into another volunteer cause.

The secrets of life

In sum, I feel more mature and more aware.

I think I’m beginning to understand some of the precious secrets of life. Possessions, power, and fame in the end are irrelevant. Love, sharing, and dedication are what count.

Clearly I am far from perfect. Nobody is. I stand only near the starting line of this process.

But in reaching this point, I now have a clearer view of the great potential of my life yet to be unlocked.

The threat of Huntington’s disease has brought me a load of worries. But it’s also given me so much more to feel good about in my life.

I indeed have more to lose than ever, and that’s why I’m ever more anxious to prevent HD from cutting me off in my prime.

Living in limbo

People who’ve tested positive for genetic diseases but still don’t have symptoms find themselves playing a terrible waiting game.

I tested positive for Huntington’s disease in June 1999 at the age of 39. HD usually strikes people in their 30s, 40s, or 50s. My own mother, who died of HD at age 68 in 2006, started showing the psychiatric effects of HD around age 48.

So my symptoms could start any time.

Difficult to predict

With HD, the more severe the genetic defect, the earlier the disease starts. But doctors and scientists cannot predict the exact moment when a person will display symptoms. What makes this fatal brain disease even trickier is its variety and complexity of symptoms. Researchers are finding that the disease affects many functions, from those as subtle as the sense of smell to as basic as the ability to walk.

The disease also causes decline variably in different people. The normal course usually runs 15 to 20 years. But some people live a long time until the worst symptoms kick in, while others become helpless early on.

HD is caused by a single genetic defect, but researchers are searching for so-called modifier genes that might trigger onset. Environmental factors and lifestyle also may affect onset and the severity of the disease.

My own waiting game

So I have played the waiting game for eleven years.

Not long after I was tested, my wife and I noticed that my legs twitched at night as I would fall asleep. We panicked, because the first physical manifestation of my mother’s HD was uncontrollable trembling in her legs while in bed.

A physician with detailed knowledge of HD informed me, however, that many people have nocturnal twitching and that mine was probably not related to HD.

We were relieved, but, because the genetic defect eventually strikes all carriers, we know it’s only a matter of time before something begins to go wrong.

Subtle versus classic symptoms

Over the past decade I’ve noticed a decline in several areas such as short-term memory and reaction time behind the wheel. This could be HD – or simply the aging process. (I turned 50 last year.)

I did well at my last annual check-up with an HD specialist. I am still apparently free of classic HD symptoms.

But I’m also aware that the more subtle symptoms could be at work. And I know that the latest research demonstrates that changes in the HD-affected brain start occurring years before noticeable symptoms arise.

Feeling “cheated”

Recently I’ve been feeling angry about being in this state of limbo.

Don’t get me wrong. I’m very happy to be healthy. When I see other HD-affected people in my age group (40s and 50s), I feel blessed in being able to work, write, travel, and enjoy my family. I’m exercising, eating nutritious food, taking supplements, and keeping an active mind so I can try to stave off the symptoms as long as possible.

I’ll admit that sometimes I experience that little bit of death wish that we all do from time to time. During an HD check-up a couple years ago, I expressed amazement to the doctor that I had no apparent symptoms. “Be thankful,” he said.

In a weird way, I felt cheated. I had been preparing myself all these years for onset, and it didn’t happen!

It’s as if I’m preparing for a great battle, but the battle never comes.

I think what I really wanted was definition in my life about HD. I wanted to know how it would start and when. (I know that’s a narrow focus; onset will bring huge burdens to my wife and daughter.)

Powerful feelings

These visits to the HD doctor always unleash powerful feelings. I see individuals with severe symptoms. I know some of them and have seen them decline over the years.

I feel deeply relieved not to be in their situation.

And I feel sad and guilty watching them struggle with walking, talking, and the other basics of life that HD takes away.

A cruel joke?

Other times my imagination wanders into the territory of conspiracy theory. It goes something like this: the geneticist who gave me my test results made a terrible mistake and mixed up my results with somebody else’s. I am not really gene-positive! That’s why I don’t have symptoms!

A similar version gets paranoid: that geneticist wanted me to suffer and lied about the results!

“It’s a hoax!” I tell myself.

“Is this some kind of cruel joke?” I angrily ask myself. “I’m told I’m going to get a disease, and yet no symptoms have come. I keep wondering about it.”

Wanting to “resign” from HD

A few weeks ago, I daydreamed about writing a “resignation letter” from my volunteer position with the local chapter of the Huntington’s Disease Society of America (HDSA). “I’m tired,” the letter stated.

I felt especially resentful because I had just returned from a very enjoyable 32-day, 8,300-mile cross-country car trip with my family. I didn’t answer any HDSA e-mail during that time, and I put thoughts of the disease and our cause to the back of my mind.

After the vacation, however, the hard reality of HD worked its way back to the forefront. It’s time for my annual check-up, and also for the tenth annual HDSA-San Diego Celebration of Hope Gala, our biggest fundraiser of the year.

Commiserating with Michael Douglas

In late August I watched actor Michael Douglas reveal on national TV that he had stage-four throat cancer. My heart went out to him. But, as he put it with the characteristic Douglas family determination, he had an 80 percent chance of beating the cancer.

“At least there’s a treatment!” I thought. Good for him!

But then I immediately thought how there is a zero percent chance of beating HD – because there is still no treatment and even less a cure.

So, just as I think about HD practically every morning, so must I daily rededicate myself to the fight against it.

Fighting on a new level

Not coincidentally, I’m gradually and very strategically going public about my gene-positive status. In June I gave a speech in Brazil in which I came out to an audience of several hundred people.

Later this month I will make a presentation on my life with HD for a local biotech company, Vertex Pharmaceuticals, which researches the disease. It will be the first time I speak in public about HD to an American audience.

I really do wish HD were just a cruel joke or a bad dream. But as I think of my mom and all of my friends and acquaintances living with the disease or at risk, I know all too well that HD is real.

My friend, the fast lane

Living at risk for Huntington’s disease often leaves me deeply anguished. My mother was diagnosed with HD in 1995, and I tested positive in 1999. For 15 long years I have worried about whether I will repeat her hellish experience of losing the ability to walk, talk, think, and swallow. Everybody with the HD gene eventually develops the disease, which is fatal. My mother died in 2006 at the age of 68. I'm 50 now, and time is closing in.

I’ve learned to cope in many ways. I’ve adapted emotionally – so far – to the idea of getting HD, and I’ve balanced my fear of HD with the demands, strategies, and joys of life (work, insurance, and family, for instance). A good part of the past year I spent preparing for a month-long cross-country car trip with my wife and daughter – our "miracle child," who tested negative for HD in the womb – in order to enjoy our time together before I develop symptoms. We had a great time (click here to read more).

The importance of exercise

Exercise is another way of coping. Perhaps it even delays the onset of symptoms.

One of my HD heroes is Bryan Medrano, a triathlete and the 2004 “Person of the Year” of the Huntington’s Disease Society of America (HDSA). I met Bryan several years ago when he was in San Diego for a kickoff party in honor of him and three other Californians who biked across the country in one just one week in order to raise research funds. I learned that Bryan was gene-positive. I admired the way he trained to stave off symptoms and to raise awareness about HD.

Next to Bryan I’ve been a couch potato. I get in 30 minutes of focused daily exercise. I usually take a brisk two-mile walk. For a while I took hour-long bike rides up and down the hills of our San Diego neighborhood. For about a year I also worked out once a week on the weight machines at the nearby YMCA. For a few years I also worked out on an elliptical machine in our living room. I also spend 15-30 minutes per day stretching.

I know I need to do more. Dr. LaVonne Goodman, the founder of Huntington’s Disease Drug Works, recommended that I put in an hour of aerobic exercise seven days a week. I’ll admit, though, that sometimes I’m lazy or too busy, so I rarely get beyond 45 minutes.

The Obama stimulus pool

Over the past year I’ve rediscovered swimming.

Thanks to my wife’s persistence, in 2009 we built a swimming pool in our back yard. I call it “the Obama stimulus pool,” because, thanks to President Barack Obama’s efforts early on to lower interest rates and get the economy going, we were able to refinance our home with an interest rate of just 4.375 percent and take out $75,000 for the pool and related home items such as solar heating and decking.

I like to tell friends that when the history of the recovery from our current recession is someday written, economists will identify our pool project as the turning point.

My wife mainly wanted the pool for get-togethers with friends and our daughter’s play dates. My wife reasoned that it was better to have our daughter within view than off somewhere else as she heads into the challenging teen years. While the kids play, we can read or work on our laptops or join in the fun.

Laps in the back yard

I investigated another very practical benefit: how to set up the pool for the best workout possible.

Our yard was too small for a lap pool. So I started to research alternatives such as a swim tether (holding the swimmer in place with a line) and swim jets (a stream of bubbles). I concluded that neither would give me the kind of challenging, natural workout I wanted.

Years ago I had also heard of a company called Endless Pools. I received some of their promotional DVDs in the mail, but the estimated price of around $20,000 seemed too much for a small pool that could be used only for swimming laps in place.

More recently, however, the company developed a product called Fastlane, a motor that can be installed in a new or existing pool.

A 52-speed motor

From my research I learned that the Fastlane did the best job of recreating the actual conditions of swimming. The Fastlane created a current in the pool, not bothersome, dispersing bubbles. The company arranged for me to try out one of its devices at another customer’s home. This gentleman, a Masters swimmer, and his wife graciously allowed my daughter and me to swim in their pool with the Fastlane.

The two horsepower motor operates at 52 speeds (!), allowing for a wide range of swimming abilities.

I was hooked! So the additional $5,000 for the device and installation by our pool contractor has been worth it. (Click on the 'play' button below to watch a video of me with the Fastlane.)



My relationship with water

The physical benefits of swimming are well-known. It’s a great aerobic exercise that involves the whole body and doesn't stress joints as with running or require an uncomfortable position (for me, at least) as with bicycle riding.

Life emerged from water, and to return to water helps me reconnect with nature. The water envelops me as if to protect, and at the same time I must work against it to keep up with the current.

I have an especially complex relationship with swimming pools. When I was about four, my mother took me and my little sister to the pool in our apartment complex. I was floating around in a circular rescue tube. Suddenly I flipped over and was upside down in the water. I didn’t know how to swim, and I started thrashing about in the struggle to right myself.

What’s worse, the lifeguard wasn’t paying attention.

Somehow, I came back up on my own.

I had swallowed some water and was coughing and crying as I came out of the pool. I kneeled down and hid between my mother’s legs and under the towel she had draped over her knees.

I didn’t develop a phobia for water or pools, but I do frequently remember the sensation of helplessness and the subsequent safety I felt under my mom’s towel.

Swimming and HD

Recently I’ve thought even more about this incident because of how helpless my own mother became when struck with Huntington’s disease.

I now return to the water to seek strength against her attacker and mine. Getting in shape, working the heart and muscles, bathing the brain with oxygen and its protective elements – these are my goals when I get into the water.

The Fastlane is my friend.

As its motor hums and relentlessly pushes water at me, I work out my frustrations. Swimming helps me to put the relatively minor but often irksome problems of daily life into perspective.

And rather than fight with people I know who live in denial of HD or fail to understand the need to draw our community closer, I think of accelerating my pace so that my fingertips can reach the edge of the Fastlane. Anger becomes energy, and sadness becomes exhaustion.

When the anguish is worst, swimming makes me feel alive and vital, knowing that for the moment I am still okay and without symptoms.

On those special days the thrill of the swim and the flow of oxygen bring me to a state of exhilaration and optimism about my work as an HDSA activist and the collective search for treatments and a cure.

The Fastlane and I don’t ever talk, but together we’re building hope.

Traveling across America, togetherness and memories

Living gene-positive for Huntington’s disease has taught me to value each and every moment of life, from the most humdrum to the most exhilarating.

Like so many people in my position, I have planned for the worst yet tried to live as if it will never happen.

I know that I could very soon follow in the footsteps of my mother, who was reduced by HD to a mere shadow of herself and died in 2006.

But I’ve tried to pack in as much life as possible.

Seizing the moment

Ever since testing positive for HD in 1999 and taking part in the birth of our HD-free daughter in 2000, I have worried deeply about whether I will see her grow up, graduate from college, and set out on her own life of work and love.

I have been blessed. Whereas my mother probably had the early psychiatric symptoms of HD in her late 40s, I reached my 50th birthday apparently free of the classic symptoms of HD. Still, all the scientific evidence suggests that the genetic defect is already attacking my brain and perhaps causing subtle, almost imperceptible symptoms.

On June 27, the day after my daughter’s tenth birthday, I seized the moment and embarked with my family on a month-long vacation. I wanted to take advantage of my good health by bringing our family closer together and creating lifelong memories for our daughter.

The force of nature

In this day and age of plane travel, we toured America coast to coast by car, just as my parents used to do with my family in the 1960s and early 1970s. (I didn’t ride on a plane until age 18, but my daughter had already flown to Brazil before she turned one!) From San Diego we drove to the Excalibur in Las Vegas, spent a night in Salt Lake City, and then headed to Yellowstone National Park.

At Yellowstone we experienced the beautiful and haunting power of nature within the first few hours. Driving home at dusk after watching the Old Faithful geyser, we saw a grizzly bear crossing a river near the road.

A baby black bear near our car on our last day at Yellowstone (photo by Gene Veritas)

Moments later, driving back to our hotel in West Yellowstone, Montana, flashes of lightning lit up the western sky. It started to rain hard, and then a storm of hail forced us to stop on the shoulder. We feared that our windshield might crack. The car thermometer plummeted from 70 to 45 degrees in just a few minutes.

Once the rain cleared, my daughter couldn’t wait to return to the hotel to write down in her trip journal the assault of nature she had just experienced.

Touring a diverse land

It set the tone for the rest of the trip – a symbol of the vastness and geographical and cultural diversity of our great country.

After Yellowstone we ate trout caught by my daughter and Huntington’s Disease Society of America (HDSA) national board member Rob Millum at his pond in Buffalo, Wyoming; witnessed the majesty of Mount Rushmore, the Crazy Horse Memorial, and Wind Cave National Park in South Dakota; saw cheese-making at Decatur Dairy in Brodhead, Wisconsin; visited Notre Dame and Yale, two of America’s leading universities; spent several relaxing days at a college friend’s home on Nantucket; ate coal oven pizza in Greenwich Village with another college friend; and viewed the Liberty Bell and Independence Hall in Philadelphia.

Rob Millum expertly caught, cleaned, and grilled trout (photo by Gene Veritas).


We also saw the spectacular museums and public buildings and monuments of our nation’s capital; experienced the wisdom and ingenuity of Thomas Jefferson’s Monticello in Virginia; learned, in a visit to Memphis, about the deep impact on our land of Elvis Presley and Martin Luther King Junior; strolled through the artful town of Santa Fe, New Mexico; visited the site of the construction of the first nuclear bomb at nearby Los Alamos; and, as a grand finale, took in the Grand Canyon.

Along the way we enjoyed many dishes new to both my daughter and my wife, who is Brazilian: Wyoming buffalo meat, New Haven pizza, Philly cheese steaks, Memphis barbecue, and New Mexican cuisine.

Mount Rushmore the night of July 4 (photo by Gene Veritas)

During much of the trip we renewed ties with old friends and family members who graciously opened their doors and cooked us wonderful meals, a welcome break from hotels and the fast food we ate during 500-mile days on the highway.

A break from HD

We logged 8,300 miles in 32 days. The pace was hectic but exhilarating.

Throughout most of the trip I simply forgot about Huntington’s disease. As a fellow HDSA-San Diego board member put it, I deserved this vacation! From late 2008, when we began revamping our chapter website, until this past June I have blogged a couple times per month, put out several chapter e-newsletters, attended the CHDI (unofficially known as the Cure Huntington’s Disease Initiative) conference in Palm Springs, and worked in a range of other chapter activities.

In the midst of all this, in September 2009, my father, the Huntington’s disease warrior who cared for my mother for fifteen 15 years, died just a few days before his 82nd birthday.

For those 32 days I barely glanced at e-mail.

A joyful time

When the subject of HD came up, we didn’t flee. In my home state of Ohio my wife and I recalled with my cousin and his wife my parents’ struggle with HD and the disease’s big part in our decision to have only one child.

In New Haven an old college friend asked me how I was doing health-wise, and I explained to him that I had now gone beyond the age of my mother’s apparent onset.

Indeed, I felt deeply privileged to be able to take the trip. It was truly a joyful month!

From “pseudonymous” to going public

During dinner at the Nantucket home of Robi Blumenstein, the President of CHDI Management, Inc., the topic of HD naturally came up. As always, it was good to hear Robi speak of the latest progress in the search for treatments and a cure.

I spoke openly about this blog, mentioning the fact that I use a “pseudonym.” My daughter, who was sitting next to me, had recently read the three children’s books by “Pseudonymous Bosch,” known as the Secret Series. Shocked, she asked, “Are you Pseudonymous?!”

No, I explained, I wasn’t. But I let her take in everything about the blog as I resumed the conversation with Robi and the other guests. For the first time, she learned that I blog about HD. Surely and steadily she is learning more about her father’s own long-held secret and witnessing how I am going public about it. (Click here to read more.)

An extra special vacation

As I put down the first notes for this entry after our arrival in San Diego on July 28, I told myself: “mission accomplished!” I had planned this trip since summer 2009. We reached all of our goals and kept on schedule, with no flat tires or major car emergencies. We managed to keep good humor in close quarters, and our daughter showed great patience as she spent long hours in the back seat far from home, beloved pet dog, and friends.

Gene on the Mickelson Trail in South Dakota (family photo).

Traveling through our great country and showing it to my family – including many places that I myself saw for the first time – left me with a sense of the grandness of our land, our planet, and, indeed, our universe. We felt part of it all, from the storm and the bears in Yellowstone to the peaceful and secluded shoreline of Nantucket to the bustling floors of the U.S. Capitol in Washington, D.C. We’re not just in America. We’re of America.

We were just one small family among millions enjoying their summer vacations. But for us this was an extra special vacation, one that I hope will always be a reference point for our daughter, no matter what the outcome of my situation as a person gene-positive for Huntington’s disease.

Charting new territory: going public about HD

On June 10, for the first time ever, I revealed in public that I am gene-positive for Huntington’s disease.

It’s been a long road – from the time I learned in late 1995 of my mother’s diagnosis for HD, to the test in 1999 that changed my life forever, to the speech at which I had the courage to tell an audience that my mother died of HD and that I run the risk of developing the disease at any moment.

The reasons for not going public continued to loom like enormous storm clouds in the days and hours leading up to the speech that I gave at the Catholic University of Rio Grande do Sul in Porto Alegre, Brazil. By revealing that I would likely lose my ability to walk, talk, and think at some point in the next decade, I would be forever putting at risk the possibility of advancement in a field in which people highly prize research, writing, and speaking.

Now that I’ve opened up to others in public, I’ve thrown off my protective sheath of anonymity. I didn’t realize how convenient, comfortable, and reassuring it was to have that anonymity. I could avoid controversy, and I could go on acting as if nothing would happen to me.

I now feel that I’m charting completely new territory in my life, the life of my family, and my involvement in the movement to stop HD. I have no way of knowing what triumphs and pitfalls await me. I fear that I won’t be ready for them when they occur.

Planning a trial run

In January I received an invitation from the Catholic University to speak on the theme of sustainable development. That’s not my field, but as a frequent commentator on current events for Brazilian newspapers, I felt fully capable of working up a presentation.

Just days before I had completed the first draft of my previous blog entry, “God, Huntington’s disease and the meaning of life,” which featured a discussion of the life and writings of the Catholic Jesuit priest Teilhard de Chardin (1881-1955). Teilhard focused on ecological issues in parts of his work, and he has inspired more recent thinkers to embrace environmentalism.

I decided that in 2010 I would start going public. So I decided to use the speech to start getting the feel for life out of the HD closet.

I felt comfortable sharing my HD predicament, speaking in Portuguese, with a Brazilian audience. Brazil is a second home for me; I first traveled there in 1986 and haven’t missed a year since.

At the same time, I felt that revealing my situation for the first time before an audience in a distant land was less risky than doing it in my own backyard. It’s hard to explain, but it felt safer than coming out someplace closer to home like work, where I’m not yet ready to speak to people about HD. It would be a trial run for both a speech on my gene-positive status and the powerful feelings sure to surge up from within the depths of my being after so many years of public silence.

The act of going public

About 250 people gathered in the auditorium for my speech. There were students, professors, and people from the local community.

After I provided some background on myself and some thoughts on 25 years as a historian of Brazil, I began by showing pictures of three people with HD. I explained that HD is a 100-percent genetic disease and that people with the defective gene all get sick. I described it as a combination of Alzheimer’s and Parkinson’s diseases. Huntington’s, I explained, attacks the brain and robs people of their ability to walk, speak, think, and swallow.

Many HD people shake or have exaggerated movements. As a result, I continued, HD people are sometimes arrested by the police on suspicion of drunkenness. Standing at the podium, I tried to recreate the movements of an HD person by swaying left and right.

HD can go on for up to 20 years, I said. During that time the patient becomes increasingly dependent on relatives and caregivers.

The end is a difficult and sad death.

After describing the three pictures in detail, I put up a slide demonstrating MRI images of a healthy brain and another terribly compromised by HD, with large areas of white space where neurons had died.

There is no treatment or cure – only a few palliatives to reduce the effects of symptoms such as the uncontrollable movements. No medication attacks the disease’s root causes.

Getting personal

Without pause, I went on: my mother died of the disease in 2006. Because my wife and I wanted to have a child, I got tested eleven years ago this month. The result was positive.

“Tonight, before you in this beloved and honored land of Rio Grande do Sul, I am speaking publicly about my situation for the very first time,” I said, my voice becoming more intense. “This means a lot, because it’s been 15 years of anonymity – an anonymity imposed by the fear of genetic discrimination, a new discrimination created by the advances of science, which increasingly allow a person to know his or her future health profile, and discrimination also because denial and prejudice continue to impede the understanding and acceptance of people with disabilities.”

I’m okay now, I told the audience. But the disease could start at any moment.

I finished the HD portion of the presentation by showing two photos I had taken illustrating the Isis Pharmaceuticals, Inc., research for an oligonucleotide that could become a potential treatment to attack the disease at its genetic roots.

During the conclusion of the speech, I returned to the theme of HD. “We face immense problems, from the cure of diseases such as Huntington’s to the salvation of the planet from environmental destruction,” I said. “But our capacity for research is also growing.”

Worrying about reactions

In the days before and after the speech I feared how people would react.

My wife, who is Brazilian, counseled me not to mix my work with personal life. It wasn’t right, she said, to insert into the speech something that (apparently) had nothing to do with the requested topic. But the organizer of the event had given my wide discretion, and I believed that a personal reflection comparing the need for research on two critical problems facing humanity would capture the audience’s attention.

Later, however, my wife came to understand my need to include HD. I reminded her that if we in the HD community won’t even speak out for ourselves, then nobody else will have any reason to care about us. She agreed.

The morning of June 7, the day before I departed for Brazil (without my wife or daughter), I had an intense dream in which I had a very frank and amiable conversation with a cousin whose mother had kept him in the dark about my mother’s condition until she died. In my waking life, I am extremely angry at this branch of the family for ignoring my mother. I awoke from the dream with the absolute conviction that I needed to come out about HD during my speech.

The aftermath

It’s impossible to know what people in a crowded auditorium are thinking about a speech. I noticed that people seemed riveted throughout the presentation.

After the speech, three commentators – Brazilian experts on sustainable development – offered their thoughts on my words. All three of them expressed solidarity with my situation, and one in particular thought my personal reflection was very important.

In a long question-and-answer session with the audience, however, nobody asked anything about HD. I was disappointed. Neither did the topic come up afterwards at a dinner with the organizer and two of the commentators.

This was probably the first time that anybody in the audience had heard of HD. Despite the increasing publicity, HD remains still a relatively unknown disease even in the U.S., compared with amyotrophic lateral sclerosis (Lou Gehrig’s disease), Alzheimer’s, Parkinson’s, and muscular dystrophy.

Brazil is many years behind in awareness about neurological diseases. The Huntington’s Disease Society of America has more than 30 chapters and 25 Centers of Excellence for Family Services and Research. However, Brazil, a country of nearly 200 million people and an estimated 20,000 HD people, has the equivalent of only two chapters, only incipient family services, and no research programs for treatments or a cure. The Associação Brasil Huntington was founded in 1997 and bravely seeks to assist HD families spread throughout a country larger than the continental U.S.

Also, the fact that I am currently asymptomatic undoubtedly reduced the impact of my comments on HD. If I were already showing symptoms, the presentation would have been infinitely more powerful.

One woman, though, left me a note with a little prayer card thanking me for the opportunity to hear me speak. “Don’t forget that for God nothing is impossible!” she wrote. “May the size of the problem become small alongside the size of your faith!”

Another woman, an engineer, thanked me for my courage in speaking about HD and for pointing out, via Teilhard, how everything in the world is interrelated. Lamenting the attitude of a colleague who doesn’t want to consider his projects’ impact on people, she agreed with me that everything we do has a social consequence.

Unpredictable paths

After the speech I felt angry for a while at my colleagues. I asked myself: why didn’t they want to know more about HD or my situation? But, thinking about it carefully, I understood that it wasn’t fair to expect any further curiosity, given the general lack of knowledge about HD and the fact that the main theme of the speech did not deal with it.

Over the years my wife has regularly warned me about this. In fact, she worries deeply about how I will handle the lack of attention and maybe even rejection that will be part of a public stance about my gene-positive status.

Away from my family and friends in San Diego, I felt very lonely in Rio Grande do Sul.

When I revealed that I was gene-positive, no bells rang, no lightning struck. Coming out as I did is just one step by one person in the process of building awareness about Huntington’s disease. It’s a huge personal step for me, but the steps still will be even bigger and more important ones as I strive to keep healthy and do my part to the build the movement.

Before June 10, I was quite accustomed to acting as a behind-the-scenes advocate.

Now I gently leave behind that phase of my life to try out new and unpredictable paths.

Moment by moment

No matter how widely known my gene-positive status becomes, I will continue to write in this blog under the pseudonym “Gene Veritas.” The name has come to mean a lot to me and to many of the readers of this blog. It’s a trademark – “the truth in my genes” – that reveals so much about my predicament and that of so many other people facing the possibility of a genetic disease. It also gives me the freedom to continue expressing myself freely about HD.

Going public about HD is a process for which there is no ritual or long history of examples. I’ll learn as I go, finding the right formula and pace for me.

I have learned to take living at risk for HD day by day. For a while, at least, I will go moment by moment as I step further out of the HD closet.

Right now, I’m going to rest up from my trip and let tomorrow worry about tomorrow.