Care versus cure: we can progress in both

If you faced a deadly, untreatable disease that would leave you completely dependent on others, where would you want more resources to be invested – in care for you or in research for a cure?

In a nutshell, that’s one of the biggest dilemmas facing the Huntington’s disease community. Because HD attacks the brain and leaves people unable to walk, talk, eat, or perform most of the other basics of a normal life, they frequently require the kind of care that a toddler gets.

But if HD people and their families are to have any kind of hope, the search for effective treatments and a cure remains equally essential. Now, with a robust new research entity and a longstanding advocacy group ready for renewal, there is more opportunity than ever for both care and cure.

A personal stake in the debate

I have personally lived the tensions of care-versus-cure: my mother died of Huntington’s in 2006 after nearly 20 years fighting the disease, and I tested positive for it in 1999.

I wanted my mother to have the best care available. Sadly, however, no specialized resources for HD existed in her county, and my father, although he cared for Mom at home almost until her death, never fully understood the disease.

I also wanted the cure to come as quickly as possible. For years I urged my father to help keep my mother as healthy as possible through exercise, proper diet, and supplements so that she might still benefit from a major breakthrough in the research. And, of course, I myself wanted to avoid the symptoms of HD.

In my own situation I have emphasized cure over care. In 1993, just two years before my mother’s diagnosis, researchers discovered the HD gene. Euphoria about the possibility of a cure followed; the Huntington’s Disease Society of America (HDSA), under the able leadership of Barbara Boyle, stressed research more than ever before.

While many people like me jumped on the research bandwagon, others complained about HDSA’s apparent lack of attention to care. As a result, the organization established a national network of so-called Centers of Excellence for Family Services and Research. Today HDSA has 21 centers in 17 states, including three in both New York and California.

These centers brought care solidly back into the HD equation. They serve as a major resource for HD-affected families.

HDSA at the crossroads

Today HDSA and the HD community stand at a crossroads.

In the mid-2000s a generous anonymous donor who had supported HDSA and also the HD-oriented Hereditary Disease Foundation (HDF) of Los Angeles decided to intensify the search for a cure. Thus began a new initiative, known as CHDI Management, Inc. Unofficially, CHDI stands for “Cure Huntington’s Disease Initiative.” In 2008 alone, CHDI pumped $80 million into drug-discovery efforts.

Although HDSA continues to sponsor important research, CHDI’s leadership in that area has raises questions about HDSA’s ongoing focus. Should HDSA now emphasize care over cure?

The renewed debate comes at a key moment; Louise Vetter, who took the helm of HDSA in March 2009, is taking a fresh look at the organization and the movement it represents.

Louise Vetter at the CHDI conference in Palm Springs, CA, in February (photo by Gene Veritas)

This month of May – Huntington’s Disease Awareness Month – provides an opportunity for our community not only to tell the world about the deadly ravages of HD, but for everybody touched by HD to reflect on his or her personal situation and involvement in the movement.

Crying out for support

At my local support group meeting on April 26, I could see all of these issues crystallizing before my very eyes.

Surprisingly, many people in the HD community know little about CHDI’s efforts. I gave a quick description of its program. People in the support group seemed pleased and impressed to learn that a very substantial private initiative had come to their aid.

I also suggested that CHDI’s concentration on research gave HDSA a big opportunity to emphasize care and family services. I used to be all “cure,” I said, but now I was shifting back towards “care.”

The support group participants appreciated the need for a national entity such as HDSA to guide and organize the HD movement’s activities.

From the passionate debate that ensued at the meeting, it became painfully apparent that many families desperately need help. Some attendees pointed out the woeful lack of Spanish-language materials, websites, and support groups. (In fact, information is needed in many other languages, too.) Speaking through a translator, one woman came to tears as she explained her struggle to obtain assistance for her HD-stricken relatives.

Local needs

Another long-simmering issue came to the forefront: financial support for the local chapters and Centers of Excellence. People understood the need to support the national organization – a common practice in the world of non-profits – but they also want greater assistance for local activities.

I have noticed over the years that our local Center of Excellence at the University of California, San Diego, needs more people and resources in order to reach out more effectively to our local HD community and to perform a myriad of other services. The people there are overworked! They do an excellent job of recruiting people for clinical trials and other research studies. But we also need to remember that nationally a shortage of subjects exists.

For their part, local chapters need advocacy training and additional staff or volunteers to assist with their many activities, including fundraising, website development, and community relations.

Grassroots action

I stressed to the group that we all make up HDSA, and we at the grassroots – the affected, families, caregivers, health workers, chapter board members – must speak out if the organization is to fully grasp our needs.

We also need to get families hidden in the woodwork to participate in clinical trials, support groups, and other vital activities such as fundraising events.


Alleviating suffering

“Care 2Cure” is the phrase indented on the official blue HDSA bracelet (pictured above in the photograph taken by Mike Nowak). This phrase echoes the ongoing debate over care-versus-cure, but also their shared importance in the campaign to alleviate the suffering caused by Huntington’s disease.

As our community plans for the future, it’s time to imagine a renewed HDSA that recaptures the spirit of its original purpose to support HD families and advocate for them in the public arena. We must also recognize the long road of progress traveled in search of the cure.

But none of this will matter if we as individuals and families don’t join the fight and make our voices heard.

Ten reasons to cure HD

Huntington’s disease? Never heard of it. Why should I care?

As with so many diseases, once you learn a bit about HD, you get a twinge of fear and sympathy. But in our hectic world it seems insignificant. Yes, an estimated 30,000 Americans have HD, but millions suffer and die from cancer, heart disease, and AIDS. Whereas Rock Hudson’s death from AIDS and Michael J. Fox’s diagnosis of Parkinson’s disease gained great publicity for those causes, HD lacks association with a celebrity.

But numbers and publicity are deceiving. The story of HD is far more compelling and complex than most people could imagine.

As the Huntington’s Disease Society of America prepares to mark HD Awareness Month in May, here are ten reasons why we need to cure HD now.

1. HD kills. While many diseases can be treated or cured, HD cannot. The 30,000 individuals affected will die a slow, ugly death. As it destroys the brain, HD robs people of their ability to walk, talk, think, and care for themselves. HD strikes people in the prime of life. Many kids and teens also get it.

2. HD threatens many people. In the U.S. at least 150,000 more people are at risk and will die if they get HD. Worldwide nearly a million people have HD. It affects both sexes and all ethnic groups.

3. HD painfully strikes at families. Every day tens of thousands of caregivers and relatives carry the difficult burden of helping their ill loved ones do simple tasks like bathe, eat, and dress. Looking after a person with HD is like caring for a toddler who doesn’t grow but rather regresses. Moreover, it splits families that disagree about whether to learn their fate or to live without knowledge of a gene-positive status.

4. HD results from a genetic defect. We all have the huntingtin gene, but in some people it has mutated. Because HD is purely genetic, the children of an affected parent have a 50-50 chance of acquiring it. The defect is not merely a tendency; its presence inexorably brings on the illness.

5. HD involves major ethical issues. Those in the HD community have long suffered great discrimination such as job loss and denial of insurance, even though the disease is officially considered a disability. In the post-genomic world, HD raises questions about the ownership and use of genetic codes, medical confidentiality and insurability, access to new treatments and cures, and the increasingly sensitive issue of genetic testing for people at risk and their unborn children.

6. HD is a model disease. HD is on the cutting edge of biotechnology. The ten-year quest to discover the HD gene, concluded in 1993, was a crucial stage in the Human Genome Project. The hunt generated many new research techniques, the discovery of aberrant proteins that harm the brain, and the production of revolutionary “transgenic” HD mice. Today companies such as Isis Pharmaceuticals, Inc., of Carlsbad, CA, are experimenting with the latest emerging generation of potential drugs in the effort to stop HD at its genetic roots. HD research generates extraordinary teamwork in the usually ultra-competitive scientific community. Dozens of labs and doctors from around the globe and thousands of families afflicted with HD participate in the effort to find a cure.

7. HD is about the brain. HD research increases understanding of our most vital organ.

8. HD research helps many other diseases. HD research has had an impact on the study of cystic fibrosis, Lou Gehrig’s disease, some forms of diabetes, and other diseases and neurological disorders. HD research could help stop Alzheimer’s, Parkinson’s, and the effects of stroke. Successful treatment of these many diseases will lower taxes and health insurance costs for everybody.

9. HD is an “orphan” disease. Historically, large drug companies have preferred to focus on products that reap huge returns and publicity but do not save lives. Despite its scientific importance, HD research receives relatively little government money. HD highlights the need to value lives over glamour and profit.

10. HD’s cure offers hope for a disease-free world. Woven genetically into every cell of those it affects, HD is a horrible killer of the brain. Although the process is painstakingly slow for families hit by HD, the research is making great strides. In the biotechnological era it is time to speak of a new human right to be free of disease. The treatment or cure of this most puzzling illness will be a historic breakthrough leading to a better quality of life for all.

Help spread the word now about the urgent need to stop HD by sending your relatives, friends, and co-workers the link to this article.

The point of no return

I awoke this Saturday morning at 6 with a burst of energy after just five hours of sleep and another poignant dream about Huntington’s disease. I immediately started thinking about one of the toughest dilemmas I have faced in living with a gene-positive status for HD: how do you come out of the closet about a condition that will deeply (and instantly) alter people’s perceptions of you and your ability to work and interrelate?

About a year ago I convinced myself that I should probably exit the closet sometime in 2010. I tested positive for HD in 1999, and my mother died of the disease in 2006 after living with it for about 20 years. I remained in the closet all these years to protect my career and insurance coverage, and to avoid other kinds of discrimination, and to shield my family. Last year I turned 50, now past the age (around 48) at which my mother apparently started showing the early symptoms of HD, such as mood swings. I don’t have any apparent symptoms, but that will someday change. I want to go public with my HD advocacy before I lose the ability to write and speak. It’s a race against time.

In my dream I have returned alone to my alma mater, Yale University, to take a year’s worth of classes just for personal enrichment. This was about the fourth such dream I have had in the past couple years as I’ve thought ever more intensively about coming out of the HD closet.

Silence and misperceptions

In this particular dream I am having difficulty keeping up in two of my four courses. In fact, I’m not even going to class very much. I’m spending much of my time reading, thinking, and, as in the other dreams, walking around the campus pondering my life as a middle-aged man as I observe young people ambitiously making their way in a busy, world-class intellectual center.

I quietly go about my business. But people begin to express dismay at my apparently lackadaisical attitude about my course work. They seem to be saying that it isn’t fair for me to slack off when so many other people are working hard.

At first I don’t pay much attention. Nobody knows that I am at risk for Huntington’s disease. If they did, they would understand my need for pure enjoyment of what Yale has to offer rather than the pursuit of a grade or a diploma.

But I also understand that an institution has rules. The fact that I’m apparently ignoring them with such nonchalance makes me look bad.

Support from the president

I decide to open up about my concerns with one of the academic deans. As I’m about to speak with him, the president of the university arrives and takes command of the situation.

In the dream the president is none other than A. Bartlett Giamatti. Most people know Bart Giamatti as the Commissioner of Major League Baseball and the man who banned Pete Rose from the sport in 1989 because of allegations of gambling and tax evasion. Just eight days later Giamatti died of a massive heart attack at the age of 51, and before he had spent even a year as commissioner. Giamatti is also the father of famed actor Paul Giamatti.

But before baseball Giamatti had a long career as a professor of literature at Yale. He served as its president from 1977 to 1986.

I vividly remember shaking his hand on two very important occasions in my life: at a reception welcoming new freshmen in 1978 and on graduation day in 1982.

In my dream Giamatti already knows about my Huntington’s disease predicament and takes an intense personal interest in assisting me with my need to take courses strictly for personal fulfillment. The institution will support me.

A link with Giamatti

In reviewing Giamatti’s life, today I learned that he suffered from Charcot-Marie-Tooth disease, one of the most common of inherited neurological disorders. Whereas one in 10,000 Americans has HD, one in 2,500 has this condition. (That’s an estimated 2.6 million people.). Like HD, it is genetic: children of the affected have a 50-50 chance of inheriting it. The disease weakens the foot and lower leg muscles and can lead to severe deformities and pain. Like HD, there is no cure.

How strange and ironic! A dream about my harsh reality leads me to discover that another real person and his family have faced a similarly harsh reality. I wondered if Paul Giamatti and Bart’s two other children have Charcot-Marie-Tooth disease. At least it does not affect the brain and is not fatal.

Juggling demands and joys

My dream reflects my daily struggle to juggle the many demands in my life – family, work, health, HD activism – while seeking to enjoy it while I’m still able to.

My worries about people’s perceptions are very real. If I go public, I will open myself to sympathy for my condition and praise for my activism but also potential criticism at my office that my passion in life is not my work but stopping disease. The institutional Yale of the dream is a metaphor for the institution where I work. I will have yet another psychological ball to juggle.

The pursuit of personal enrichment signals my efforts to squeeze as much out of life as possible before the inevitable symptoms of HD begin. In fact, the past couple weeks I have stayed up late reading guidebooks and surfing the Internet in preparation for a month-long, cross-country car trip that I will take this summer with my wife and nine-year-old daughter.

I am very excited about this trip. Cross-country trips have a special place in our country’s history, and I want to bond with my wife and daughter as I have never before, as we explore the country in which I grew up and that my wife has adopted as her own after emigrating from South America to marry me. We are both immensely happy that our daughter tested negative for HD while in the womb. For me the trip is a magical moment of opportunity to share life fully with my daughter while I’m still symptom-free.

Bold initiatives

My agitated dreams and urgent plans are fueled by the urgency to stop Huntington’s disease, one of the core goals of my life. This particular dream came after a week dominated by my work as a board member of the San Diego chapter of the Huntington’s Disease Society of America (HDSA-San Diego). (I am not among those listed on the chapter website.)

At our monthly meeting on April 13 we had a spirited discussion about our plans for May, national Huntington’s Disease Awareness Month. On May 3, we will hold the first press conference in the 32-year history of our chapter. We’ll be launching a bold campaign to double our fund-raising for this year with a target of $500,000. No chapter has ever raised so much.

On April 15 I called a professional colleague in South America who has invited me to make a speech about my field of work. I want to use this speech, scheduled for mid-June, as practice in going public. I received the go-ahead to talk about a personal situation, although I haven’t yet revealed the topic. The call was difficult, because I have always kept an absolute firewall between HDSA and my job. This was the first time that I ever mixed Huntington’s disease advocacy with work. (Just a few weeks ago I revealed my HD status to a professional colleague for the very first time. I trust him because he’s also a friend.)

Whither “Gene Veritas”?

That same day I also had a deep conversation with my psychotherapist about the implications for this blog when I come out of the closet. I told her of my plans to establish a personal website touching on all aspects of my life and writing, including this blog.

“Gene Veritas” is a unique trademark that I’m extremely comfortable with. Using a pseudonym allows me to express myself fully and freely.

I wondered: will I lose this freedom when I go public? What will happen to “Gene” and to the “other me”? Both of us could change profoundly. For the first time I raised these questions explicitly with someone outside of my inner circle of family and friends. Only the future will tell.

Visiting the hospital

Yesterday I delved into HD yet again by visiting Edgemoor Hospital in the neighboring city of Santee. A public facility, Edgemoor has taken in scores of HD patients over the years. I always fear going there, because I know I could end up there someday. (More on this fear in a future blog entry.)

At Edgemoor several of us from the HDSA-San Diego board helped with the filming of a video of HD patients and care-giving and at-risk relatives.

It was an emotionally wrenching experience. I watched as board member Bill Johnston attempted to interview a 51-year-old woman who appeared to have mid-stage HD. Every moment painfully reminded me of my mother’s situation. The woman could speak a little but either did not understand or simply could not answer most of Bill’s questions. Even though she had three at-risk children, she didn’t know – or had forgotten – that genetic testing was available.

Bill turned to me and asked if I had any suggestions. I remembered that my mother, although silent most of the time, could suddenly recall many facts from her youth and converse about them. Bill tried this approach. Sadly, however, it did not work.

A photographer and I then went with the woman to the hospital garden to get some still photos of her. After he asked her to sit down on a large rock, she lost her balance and began to slip off. We sprung to her rescue and pulled her up. I remembered how easily my mother used to fall. Once she broke her wrist; another time she sustained a gash on her head. We then went to the woman's room for some more pictures. She and I talked a little about family photographs tacked on a small bulletin board. Sadly, I learned from her that her husband (or perhaps ex-husband) does not visit her.

How lonely, I thought, to live in a hospital without attention from loved ones.

Not ready for the camera

Back in the room set up for filming I watched Bill and his wife Ramona get ready for the next interview. Ramona has had HD for more than a decade. Bill gently got her out of her wheelchair and straightened her hair for the camera. A resident of Edgemoor now for several years, Ramona can no longer speak.

I felt my stomach tighten and tears well up in my eyes as Bill recounted how HD had torn into the prime of his family’s life. His two children learned of their mother’s status just as they entered their teen years. His son tested negative at 18, but only after starting to live as if he had the disease. Bill’s daughter, a college student, hasn’t gotten tested yet.

“We need an at-risk person,” Bill said about the content of our video.

I thought for a moment: should I volunteer?

No, I told myself, the time had not come yet to go on camera. I am developing a specific plan for going public and must follow through logically and intelligently. I kept quiet.

Enjoying blessings

Luckily, Kari Hartmann showed up shortly thereafter and volunteered. Kari, 20, is at risk. She and her cousin Sharon Shaffer, who has HD, went on camera.

I hugged Sharon for a long minute. She is my sister in HD. We met many years ago in the “at risk” discussion section of the local HDSA support group.

Yesterday we asked each other about how we were doing. Sharon is about 44 and has had symptoms for several years. She can converse normally, and she still writes beautifully. But she had to leave her job a couple years ago and can no longer drive. “I feel blessed that I don’t have symptoms yet,” I told her.

“I feel blessed, too,” she said. I didn’t ask her why she felt this way, but I could tell that she was enormously happy about her ability to keep speaking. On April 30 she, Kari, Sharon’s husband Renato, and a host of other family members and HDSA-San Diego volunteers are putting on a benefit golf tournament in preparation for Renato’s Race Across America effort in June. Renato and three other men will traverse the country on bikes to raise money and awareness for the Huntington’s disease cause. Sharon is in the thick of the preparations for the tournament and the race.

The HD portion of my day still wasn’t done. Over dinner I had a long conversation with fellow board member Allan Rappoport about HDSA-San Diego matters, including strategies for passing the all-important H.R. 678, The Huntington’s Disease Parity Act of 2009. If passed, this federal legislation would make it easier for HD patients to obtain Social Security and Medicare benefits.

“One Too Many”

Back home, I sat at my computer to tend to HD matters. It was yet another late Friday night on the HD barricades. I spent a few hours helping edit the press release for our May 3 press conference on HD Awareness Month and the big fund-raising goal.

Our theme is “One Too Many.” “With ‘One Too Many’ we want to tell the world that the time has come to put an end to this deadly disease,” a draft of the release goes. “One person, one family suffering from HD is already one too many. We have set our goals high because we know that once people learn about the devastating nature of Huntington’s disease, they’ll realize they can make a tangible impact on the cure and in the lives of more than 30,000 people currently suffering from HD, some 250,000 at-risk individuals, and the thousands upon thousands of family members and loved ones touched by the disease.”

I had no sooner finished my work than a chat-room pop-up appeared on my screen. Another big part of my week (and of the last few months) has gone to networking with other HD-affected families, patients, and at-risk people via Facebook.com. The pop-up indicated that Scott Tolleson of Kilgore, Texas, wanted to chat. He sent me a link to website about his son Micah.

Micah Tolleson before his surgery on April 15 (photo from family website).

Scott is gene-positive for HD. In one of those terrible twists of life, 22-year-old Micah recently started having outbursts of anger and suicidal thoughts. Doctors discovered that he had developed a brain tumor. Although ultimately determined as benign, it still affected Micah’s brain. He underwent surgery on April 15 and is now recovering.

The doctors also decided to test Micah for HD. Scott informed me late Friday night, April 16, writing directly from the hospital: “My son just tested pos.”

Micah Tolleson is one too many living at risk for HD. Everybody in this predicament is one too many!

The point of no return

Today I take yet another big step towards exiting the HD closet. My readers now know where and when I attended college.

My Huntington’s disease story – including my ties to an increasing number of people who share this struggle with me – is inevitably intertwined with my past. As I venture out of the closet and into the future, that past will continue to impact my life and the quest to end HD.

I feel that I am approaching the point of no return. The more I share about my life, the more difficult it will be to keep up firewalls between my HD activism and the other components of my life.

I, too, have been one too many – one too many people forced to live in the closet because of the fear and stigma raised by Huntington’s disease.

Good-bye, pre-existing conditions!

No matter what you might think about the new health care reform law, it’s hard to disagree with one of its key provisions: a guarantee of coverage for people with pre-existing conditions.

The law signed by President Barack Obama on March 23 immediately prohibits insurance companies from denying coverage to children with pre-existing conditions. In 2014 the law will extend that protection to adults.

The law especially gives people in the Huntington’s disease community a big reason to celebrate. I felt especially moved, because I am gene-positive for HD.

HD is a genetic disease, and children of affected parents have a 50-50 chance of inheriting it. Even before testing, those offspring are already considered “at risk.” This situation caused many HD families to go underground regarding their status to avoid loss of health coverage or denial of a new application.

These people also had little incentive to get tested. If they did test and the results were positive for HD, their medical records would already indicate to health plans and insurance companies that they would develop a deadly brain disease requiring long-term medical attention and expensive medications such as tetrabenazine. Death occurs as long as 20 years after the onset of clinical symptoms. And, depending on how early in life they tested and how severe the genetic defect, the onset of symptoms might not occur for many years or even decades – or it could be imminent.

Insurance companies had little incentive to take on such individuals. HD is the quintessential pre-existing condition. Everybody with genetic defect eventually becomes ill.

The new health care law prevents this discrimination, and one of its provisions will reduce the cost of policies for people with pre-existing conditions. Another important part of the law ends the cap on lifetime benefits. Insurance plans can no longer drop people who get seriously ill.

Liberating legislation

Rep. Nancy Pelosi (D-CA), the Speaker of the U.S. House of Representatives, summed up the potential impact of the new law. “It’s liberating legislation,” Pelosi was quoted as saying in The New York Times on March 21. “It’s to free Americans to live their passion, reach their aspirations without being job-locked because they have to have health care, especially if they have someone in their family with a pre-existing condition.”

As we all know from the heated debate over health care reform the past year, many people opposed changing the system. Indeed, as President Obama had barely signed the bill, various elected officials and state attorneys general said they'd seek to repeal or block implementation of the legislation.

I’ve heard no complaints about the provisions regarding pre-existing conditions. No matter what people’s position with respect to the overall legislation, I hope that any attempt to change it will not result in excluding this historic protection. A lot could happen between now and 2014, when the legislation takes full effect.

The issue of pre-existing conditions transcends politics, and I hope leaders of all political persuasions see it this way.

As scientists develop genetic tests for more diseases, more and more people will have “pre-existing conditions.” The genetic basis of disease is becoming ever more apparent, and personalized medicine – where each individual gets specifically designed medications based on his or her genetic makeup – could become a reality in the coming decades. Someday we may all have at least one, if not several, pre-existing conditions.

Furious about insurance

As with the stories of many other Americans, my own history with the health care system demonstrates the necessity of the reform.

Like so many of us, I learned the dreaded term “pre-existing condition” as I came of age in the 1970s. I remember filling out insurance forms that asked questions about all kinds of conditions. I developed a profound dislike for the health insurance industry and also the way our health care system in general worked.

What good was insurance if you could be rejected for so many reasons?

One day in 1992, the inhumane and illogical nature of the system became crystal-clear. I had recently been diagnosed with asthma by a doctor in Indiana. Now, on my first consultation about my condition after getting a new job in Florida, I couldn’t believe what was happening.

The physician basically grazed her stethoscope across my chest, made a couple of comments, and left the consultation room. The entire appointment took no more than a few minutes.

In the waiting room prior to my appointment, I had heard the doctor ordering a secretary to call home and have someone take care of her Mercedes.

I was furious after I left the doctor’s office. Later I made a formal complaint. And I then I went back for a follow-up appointment.

A backwards system

This time the doctor looked rather guilty. She actually took a few minutes to listen to my breathing.

Then, at the end of the consultation, she told me, “If I were you, I wouldn’t tell anybody that you have asthma.”

She said this as if she were doing me a special favor to make up for the lack of attention during our first meeting.

I felt in my gut how our health system was based on backwards criteria. The patient was at the complete mercy of this system. In fact, the patient had no place in the system if he or she actually had any kind of serious condition.

A long, frustrating experience

When I learned in late 1995 that my mother had Huntington’s disease, I wanted to get tested immediately. But my mother’s neurologist warned me to be extremely careful and to take my time to decide about testing. People could be denied health coverage if they tested positive for HD and revealed this information, he explained.

Thus began a long, frustrating, and painful experience of keeping quiet information about my mother’s illness and my at-risk status.

This experience intensified after I tested positive for HD in 1999. I kept my HD status from virtually everybody – employer, professional colleagues, health plan, financial advisor – to assure that it did not enter my medical or other records.

Although I have reached the height of my career potential, I have been afraid to look at new job opportunities. I have group health coverage, but what if a potential new employer does not offer such coverage? I would have to lie about my HD status.

Going outside the plan

Worst of all, I have never used my health coverage to help me deal with the central fact of my health: my gene-positive test for this horrible brain disease.

I got tested for HD outside the plan, pay out of pocket for check-ups at the local HD clinic, and have paid tens of thousands of dollars in fees to a private psychotherapist, who has helped me cope with living at risk.

The need to hide my HD status is one of the main reasons I use the pseudonym “Gene Veritas” in this blog.

I wish that protections for those with pre-existing conditions had come about long ago. I could have lived without fear of losing coverage. I could have received all of my medical care within a single plan and thus strategized more confidently about avoiding symptoms. I would have felt much freer to pursue better job opportunities.

And I would have lived with far less stress.

Safe at last

Several times this past week I’ve breathed a sigh of relief about these forthcoming new legal protections for people in my situation. I’m edging ever closer to coming out of the HD closet and becoming more public in my activism for the San Diego chapter of the Huntington’s Disease Society of America. I will feel a lot safer knowing that I’m covered no matter what.

It’s also a great psychological boost, key to maintaining basic health in order to stave off the inevitable symptoms as long as possible.

But the new law won’t so much as help me as it will the younger people from Huntington’s families who are just beginning their lives and the difficult process of deciding whether to get tested, change a job, or start a family.

I’m also hoping that the new law will give untested at-risk people the incentive to discover their status so that they can assist with HD research and clinical trials. An increasing number of potential drug targets are entering the pipeline, and labs need subjects to test them.

We can now happily begin to say good-bye to “pre-existing conditions” in our health care system. This week brought a new beginning for the Huntington’s disease community – and for everybody in America.

Aiming for HD clinical trials

With some 700 potential drug targets already identified, Huntington’s disease researchers are strategizing about how to advance their vast knowledge of this deadly brain illness into human clinical trials for treatments and maybe even a cure.

I observed this process in person earlier this month at the Fifth Annual HD Therapeutics Conference and a Clinical Workshop sponsored by CHDI Management, Inc., the multi-million-dollar “cure Huntington’s disease initiative.” More than 200 people from around the world attended the workshop at the Parker Palm Springs hotel in Palm Springs, California, from February 8-11.

On February 14, I reported my initial impressions of the event, describing the immense progress that scientists have made since the discovery of the HD gene in 1993. The conference included 31 presentations and 59 posters on the latest work done in Huntington’s research labs.

As I concluded, the challenge today is not a lack of possibilities, but a plethora of fronts on which the disease could potentially be fought. Researchers now must select the correct targets among many and find a way to administer them safely and effectively in humans.

In this report I provide an overview of the first part of the event and the hope that it brought for the HD-afflicted, premanifest (gene-positive, asymptomatic) individuals such as myself, and untested at-risk people.

From labs to clinics

Appropriately for an effort geared towards moving targets into clinical trials, the CHDI event started with a clinical workshop on February 8. Titled “Engaging the Field: New Clinical Approaches to Disease Modification in Huntington’s Disease,” the workshop addressed the question of how to design safe and useful trials.

The workshop indicated that the HD research community is now highly focused on moving potential treatments from the labs into the clinic. This gathering was not a theoretical exercise for the benefit of pure science, but a practical approach to helping HD-affected and premanifest individuals as quickly and as safely as possible.

In the morning, workshop participants heard eight presentations relevant to designing trials in humans. These presentations provided both an overview of some of the crucial areas of clinically-driven HD research and examples of strategies that might be used.

Attacking HD’s genetic roots

The first two presentations dealt with attempts to halt the disease at its genetic roots.

Neil Aronin, M.D., of the University of Massachusetts Hospital described the advantages and pitfalls of trying to directly combat the defects wrought in brain cells by the mutated huntingtin gene through the use of antisense oligonucleotides (oligos or ASOs) and RNA interference (RNAi). These valuable, cutting-edge techniques go to the root of HD’s causes, but they also could produce unforeseen consequences in the cell.

Current use of oligos, for example, targets the harmful effects of the mutated huntingtin gene in brain cells, but it also could prevent the proper operation of normal huntingtin, which is essential for life. Scientists are looking for ways to keep good huntingtin functioning while blocking out only the effects of the bad. Continued research is needed.

Other presentations later in the conference, as well as several of the posters, addressed these techniques in greater detail.

Neil Aronin discusses research with Ramee Lee of CHDI (photo by Gene Veritas).

A conference poster illustrating RNA interference as a way to inhibit the effects of the huntingtin gene (photo by Gene Veritas)

A poster demonstrating experiments with antisense oligonucleotides, also used to target the huntingtin gene (photo by Gene Veritas)


Timothy Miller, M.D., Ph.D., of the Hope Center for Neurological Disorders at Washington University in St. Louis, reported on the successful use of an oligo manufactured by Isis Pharmaceuticals, Inc., of Carlsbad, California, to ameliorate amyotrophic lateral sclerosis (ALS, or Lou Gehrig’s disease) in transgenic rats carrying specific traits of the disease.

The Isis oligo was targeted at SOD1, a gene that, when mutated, causes ALS. The oligo slowed down the onset of the disease and doubled the survival time of the animals. The oligo was found to be safe in rhesus monkeys. The next step in this project is a Phase I trial in humans to test for the safety of the oligo in the human body.

It will take place at six sites: Washington University in St. Louis; Massachusetts General Hospital in Boston; Johns Hopkins University in Baltimore; the Carolinas Medical Center in Charlotte, North Carolina; the Methodist Neurological Institute in Houston; and the Center for Neurological Study at the Scripps Institute in San Diego. This project is highly important for HD research, because Isis is currently testing oligos for Huntington’s. These studies may show the way forward in the search for HD treatments and a cure.

Drains on energy

The next two presentations focused on energy usage in HD. They specifically addressed one of the most controversial and difficult questions in the science of HD: whether the failure of the mitochondria, the powerhouses of our cells, is a cause of the disease.

Bernhard Landwehrmeyer, M.D., of Ulm University in Germany, explained that the brain relies heavily on energy. While the brain accounts for only two percent of our body weight, it represents 20 percent of the oxygen consumed in the body and 25 percent of our glucose utilization. The mitochondria of the brain are responsible for this immense energy usage.

Regarding the connection between Huntington’s disease and mitochondrial dysfunction, the big question resembles the classic one about the chicken and the egg: is the dysfunction the cause or the effect of HD?

For the most part HD researchers have assumed the former. As Dr. Landwehrmeyer explained, HD presents motor, cognitive, psychiatric, and metabolic (energy-related) symptoms. The body’s muscles and brain work harder, consuming more energy. Many HD patients lose weight. Research demonstrates that glucose uptake (absorption) diminishes in HD-affected brains. Biopsies of HD-affected brains reveal abnormal mitochondria. Additional evidence suggests that a gene (PGC-1 alpha) regulating energy metabolism affects the age of onset in HD and might play a role in mitochondrial dysfunction.

Other evidence suggests that HD is not causing dysfunction. The genetic defect of HD, for instance, does not directly cause mitochondrial dysfunction.

Dr. Landwehrmeyer concluded that more studies are needed to clarify the role of this dysfunction in HD patients.

Bernhard Landwehrmeyer (right) converses with Rodrigo Osorio of the Chilean Huntington's association (photo by Gene Veritas).


Ronald Haller, M.D., of the University of Texas Southwestern Medical Center agreed that there is “no definitive smoking gun of mitochondrial defect” in Huntington’s disease. Dr. Haller presented his ongoing research on mitochondria in the muscles of HD patients whom he studies as they ride stationary bicycles.

Such exercises allow for an excellent measure of oxygen usage. In contrast with healthy individuals, Dr. Haller discovered, HD patients experience a striking impairment of oxygen flow. They must use more oxygen and a larger mass of muscle to carry out the same tasks. So far, however, he has found no link to mitochondrial dysfunction.

As general advice, Dr. Haller recommended that people with or facing HD remain active. Excessive rest, he stated, reduces mitochondrial capacity.

Understanding changes in patients

The final four presenters discussed ways of understanding changes in HD patients (disease modification).

Yaning Wang, Ph.D., of the of Office of Pharmacology of the Food and Drug Administration (FDA) spoke via a webinar about the agency’s study of disease modeling and modification in Parkinson’s disease. Dr. Wang pointed out that several companies are investing in Parkinson’s drugs aimed at attacking the underlying disease, as opposed to just the symptoms. An FDA working group is encouraging the collection of biomarkers (indications of disease symptoms) in the early and late phase clinical trials as well as information about the effects of the trials. Understanding clinical endpoints (a disease symptom occurring in a trial) is important for exploring useful biomarkers, Dr. Wang explained.

The FDA plans to establish a similar working group for HD in the near future.

Doug Langbehn, M.D., Ph.D., of the University of Iowa, affirmed the need to develop mathematical models for better measurement of disease progression and the effectiveness of clinical trials.

Dr. Langbehn, who studies premanifest and early manifest HD patients, emphasized that the concept of “diagnosis” is tricky in Huntington’s disease. With most diseases, progression of the disease is measured from the start of the diagnosis by a physician. In HD, however, difficulties imperceptible to the patient occur years before an official clinical diagnosis is possible.

Medical researchers still have very little data about the disease over its full course – ranging from 15 to 30 years – in a patient. Dr. Langbehn stated that the first changes in a patient probably begin as early as 15 years before onset. As people near onset, it’s possible that various biomarkers converge and accelerate their progression to produce the disease.

Without taking these complexities into account, drug trials could go awry and produce very ambiguous results, Dr. Langbehn explained. A complete disease model should include comparisons between clinical observations and results of brain imaging, he added.

Doug Langbehn with Dr. Lavonne Goodman of Huntington's Disease Drug Works (photo by Gene Veritas)


Sarah Tabrizi, M.D., Ph.D., of the Institute of Neurology at University College London, explained that long-term studies of large groups of HD patients are producing increasingly detailed information about symptoms earlier and earlier in the disease process, including premanifest individuals. Improved testing also has permitted better measurement of short-term changes in the disease.

Dr. Tabrizi analyzed the results of observations on 363 individuals – 123 “control” individuals unaffected by HD, 120 premanifest individuals, and 120 HD patients. These people took part in a large observational study known as TRACK-HD.

In one premanifest person, changes in the brain began 14 years before the onset of the disease. Overall, considerable changes took place in the brains of both manifest and premanifest individuals in short periods of time. Manifest patients suffered an annual loss of brain cells (atrophy) of 1.9 percent of their brains, while the premanifest individuals lost 0.7 percent.

Other tests included measures of atrophy of the caudate (a region of the brain); subjects’ eye movements; individuals’ ability to perform finger-tapping (a highly useful measure); functioning of the sense of smell; slowed reaction time on a task; and the motor functions of the UHDRS (Unified Huntington’s Disease Rating Scale).

Eye tests, for example, measured how precisely an individual looked at a target and detected significant changes in just one year.

Researchers are also developing psychiatric markers for the disease such as temper, judgment, and irritability. The nearer to diagnosis, the more those with HD show increased temper and irritability and impaired judgment, Dr. Tabrizi stated.

Scientists have further observed “cortical thinning” in HD subjects, she added. The outermost region of the brain, the cortex plays an important role in cognitive functions. Scientists are seeking to measure subjects’ ability to probe and make spatial perceptions.

To properly utilize the growing variety of biomarkers and tests for measuring them, a new HD functional scale for premanifest and early manifest individuals is needed, Dr. Tabrizi concluded. The new scale will help validate the usefulness of the biomarkers in the clinic and clinical trials. CHDI is currently developing such a scale.

Cristina Sampaio, M.D., Ph.D., a professor of clinical pharmacology and therapeutics at the University of Lisbon, is a member of the European Medicines Evaluation Agency (EMEA), the European equivalent to the FDA.

Dr. Sampaio stressed the need for accurate clinical diagnoses of HD and outcome measures for the clinical trials. Relevant data are important for providing the best drugs possible. HD’s status as an orphan disease does not mean that researchers should settle for anything less than the best, she said.

Treatments must prove effective over decades, she added, and clinical trials should be held for both manifest and premanifest individuals. Debates such as the one over mitochondrial dysfunction may be irrelevant as long as the treatment works.

Tackling big issues in drug discovery

After the presentations, the CHDI organizers broke up the participants into six small groups placed in separate rooms. Each discussed a specific question about HD drug discovery.

CHDI placed me in Group 2. It tasked us with determining which segments of people in the HD population would be included in particular kinds of clinical trials. We also had to consider the inclusion of premanifest individuals. Yet another concern centered on differences in drug safety for each segment.

For 90 minutes I observed as the scientists, physicians, pharmaceutical representatives, and others reviewed the main issues involved in HD drug discovery and formulated specific recommendations.

Several issues became clear.

First was safety. One person suggested the standard approach of beginning a trial with only symptomatic individuals. Clinicians would study this segment to determine drug safety. Later, others could be included in testing the drug for efficacy.

Another issue first involved the possible lack of a sufficient number of patients and premanifest people to carry out clinical studies. One scientist stated that 1,000-2,000 individuals would be required for a single trial. That is a very large percentage of HD-affected population, estimated at around 30,000 in the U.S.

In addition, only certain segments might be useful in a particular phase of a study. One participant pointed out that there is a “sweet spot” population of early- to mid-manifest patients who are ambulatory and in a stable relationship and therefore able to take part in studies. Other patients might be too ill to participate. Once a patient can no longer go to the clinic, he or she would be dropped from the study.

A potentially large number of premanifest individuals could participate, but their lack of classic symptoms makes it difficult to measure the effects of a trial on them. Within the premanifest segment, various subgroups face different periods of time before onset begins.

Another factor concerned the degree and risk of side effects. Premanifest people might not be as tolerant of uncomfortable side effects, whereas a diseased person likely would be willing to take greater risks and endure greater side effects. Examples would include trials requiring surgery, spinal taps, or the taking of a drug with immunosuppressive side effects.

As one individual observed, patients with advanced disease are in huge need and desperate for help. They are likely to die of HD in just a few years.

The group – and other activities at the CHDI meeting – also noted that the FDA does not currently accept brain defects that appear in imaging as confirmation of neurological disease. A person must have symptoms. In this respect, the agency seems far behind the scientists, who have used imaging to demonstrate profound changes in the brain. Nevertheless, clinical researchers still face the challenge of linking the particular results of imaging studies to actual symptoms and later to actual improvements in symptoms.

All in all, the group agreed that a trial should start with one segment and, once the drug proved effective, proceed to the general HD population. People also seemed to agree that premanifest individuals should be included in the more general trial.

Debates on clinical trials

After the six groups returned to the main conference hall, each one presented its conclusions.

Mutant huntingtin and “repurposing”

We learned from Group 1 that a drug created to reduce the effects of the mutant huntingtin gene should, in order to be effective, cut the actions of the gene by at least 35 percent. Group 1 also noted that already existing drugs used in other conditions could be “repurposed” to combat HD.

Secondary symptoms

Charged with designing a Phase III trial, Group 3 stirred debate by including the use of so-called secondary effects (or secondary endpoints) of the disease: behavioral and psychiatric symptoms. These symptoms could be measured by what the group described as a “quality of life” scale, as opposed to a “total functional capacity” (TFC) scale.

To make their point, Group 3 noted that functions such as finger-tapping or extending the tongue – scientifically very useful and highly indicative of disease – do not always have much meaning for the patients themselves. Patients, the group affirmed, don’t complain about their capacity to tap but about their cognitive functions declining.

In addition, clinical researchers have the additional burden of convincing FDA regulators that tongue extension and finger-tapping are meaningful in the drug discovery process.

As the debate over these issues made clear, nobody has yet discovered the best way for measuring what happens in HD. The very definition of Huntington’s disease could change in the coming years. But ultimately measures must be quantitative and sensitive to changes in the disease.

The usefulness of MRI

Tasked with discussing ways to see the meaningful effects of a drug in a Phase III (final) trial, Group 4 pointed to the need to examine the cerebrospinal fluid and brain plasma, measure the activity of non-neuronal brain cells (glial activation), and utilize various techniques for tracking changes in the brain, including MRI.

Although MRIs are helpful, Group 4 noted that scientists don’t really know why the brain shrinks in HD. Loss of brain volume could result from cell body shrinkage or from changes in the synapses, the communication lines that allow one brain cell to pass a signal to another. In either case, this kind of damage is potentially reversible.

Group 4 concluded that, although not a perfect measure of disease, imaging is the most reliable instrument that scientists have for examining the HD-affected brain.

Late-stage and truly premanifest individuals

Group 5 considered the limitations of both those in the late stages of the disease and the “truly premanifest,” who show no symptoms at all.

Both groups for the time being can't be included in trials. Late-stage patients are in such compromised conditions that it's extremely difficult for any kind of measurement to take place. According to Group 5, the premanifest should not run the risk that any clinical trial poses.

Patient attitudes and FDA regulations

Group 6 focused on the design of study necessary in a Phase III trial and raised a set of interesting issues related to patient attitudes and FDA regulations.

The group proposed a flexible trial design in order to have the ability to shift gears in the middle of the experiment. This kind of trial is more easily done in Europe than in the U.S, the group noted.

The ideal study does not always meet with FDA approval. But the group advocated a design unrestricted by current FDA guidelines. Within a trial, clinicians need to think actively and utilize various parallel methods simultaneously in order to account for all possible useful biomarkers.

Further, Group 6 proposed the idea of Huntington’s as a continuum of disease – not just one, simple diagnosis. (See my earlier entry on this topic.) This interpretation of HD would open up broader possibilities for FDA approval of drugs. Along these lines, the group observed that some patients may not want to be “diagnosed,” while others may want to be proactive and test early and therefore receive early treatment.

Group 6 further noted that some drugs may help only the very early symptomatic patients and premanifest individuals, as clinicians are observing with the use of antibodies to combat Alzheimer’s disease.

Group 6 concluded that, although drug approval might occur more easily in Europe, it was necessary to obtain the more stringent FDA approval in order to secure international markets for the drugs. Areas such as Asia could be important in the marketing of the drugs.

Progress is being made

The challenges in potential HD clinical trials are daunting, but the HD research community has assembled some of the best minds in science to meet them.

For a long time, scientists have thought that HD would require treatment on many fronts. By holding clinical workshops such as the one in Palm Springs, CHDI is gearing up to fight on many of those fronts simultaneously.

Today scientists offer not just hope to the HD community; they are developing a practical plan for turning that hope into the first real medicines for alleviating Huntington’s disease.

(I wish to thank Doug Macdonald, Ph.D., and Simon Noble, Ph.D., both of CHDI Management, Inc., for their assistance with this article. Next time: a report on the second part of the CHDI meeting, the 5th Annual HD Therapeutics Conference.)

A restless soul at the HD research meeting

Curing a devastating and complex illness like Huntington’s disease requires a team built of some of the world’s top scientists.

To that end, CHDI Management, Inc. – the multi-million-dollar “cure Huntington’s disease initiative” – brought more than 200 people from around the globe to its Fifth Annual HD Therapeutics Conference from February 8-11 at the Parker Palm Springs hotel in Palm Springs, California. A tandem event, the CHDI Clinical Workshop, took place on February 8.

In addition to HD specialists, the conference included representatives of biotech and pharmaceutical firms, the Huntington’s Disease Society of America (HDSA), the Huntington Society of Canada, and a number of advocates from families affected by HD.

The latter included conference keynote speaker and writer Steven Seagle, the author of the acclaimed graphic novel It’s a Bird, which addresses his family’s way of confronting Huntington’s and juxtaposes the reality of disabling HD with the fantasy of Superman.

A front-row seat on science

The HD specialists form a virtual community where they share information and challenge one another through publications in academic journals, in teleconferences, and via the Internet.

Only occasionally, however, do they get an opportunity to meet as a group, challenge one another in person, and get the “big picture” of the rapidly growing and increasingly specialized field of HD research.

As an official invitee to the conference, I watched the scientists present their work to their colleagues, answer pointed questions from the audience, and discuss their findings over meals and in informal conversation. I literally had a front-row seat to witness the process of intellectual discovery and debate.

Worrying (again) about symptoms

Everything said and done at the conference impacted me personally: I tested positive for Huntington’s in 1999, and my mother died of the disease in 2006. Listening to the scientists discuss research advances and possible treatments was like watching a television series about my future.

At first I felt deep sadness. I wondered whether a treatment would be found before I experience symptoms. Once again I had to “look into the genetic mirror” and see myself ending up like my mother – unable to speak, walk, or swallow. A part of me did not want to be at this conference.

I was especially concerned about the data on premanifest (gene-positive, asymptomatic) people like me. Andrew Leuchter, M.D., of the University of California, Los Angeles, presented his findings on EEG (electroencephalogram) readings taken on affected and premanifest HD people. By placing electrodes on the scalps of his subjects, Dr. Leuchter and his collaborators were able to measure shifts in both the level and location of power in the brain. They found that brain dysfunction clearly occurred in the premanifest subjects.

Dr. Andrew Leuchter of UCLA reports on EEG readings (photo by Gene Veritas).

I was shocked to learn that EEG readings could detect changes in the brains of Alzheimer’s patients 20 years before the onset of the disease. What, I wondered, if the same thing happened in HD? Because I have already passed the age when my mother’s symptoms began, was my brain already deeply compromised? I worried about this as I looked at Dr. Leuchter’s PowerPoint images of premanifest HD brain readings.

Dr. Leuchter pointed out that HD EEG studies have been lacking. He proposed that more studies be done, and that subjects be tracked over a longer period of time.

MRIs and affected brains

I had an even more eerie sensation in watching the presentation by Nellie Georgiou-Karistianis, Ph.D., of Monash University in Victoria, Australia. She had studied HD people’s brains using functional magnetic resonance imaging (fMRI). I took part in this study by undergoing MRI scans at the University of California, San Diego, in 2008 and 2009 (click here to read more).

Dr. Georgiou-Karistianis found reduced activation in the brains of both affected and premanifest individuals.

Dr. Nellie Georgiou-Karistianis (photo by Gene Veritas)

However, because the study lasted only two years and did not illustrate whether actual changes were occurring in the brain, she proposed the tracking of individuals over a longer period.

Another aspect of her study, which employed diffusion tensor imaging (DTI), demonstrated that affected HD people suffered from significant degeneration of the white matter in their brains. I was relieved to hear that no such effects were evident in the premanifest group.

Immense progress made

But witnessing the scientists’ intelligence, dedication, and passion for their work heartened me. As I took extensive notes on staccato-like presentations that compressed years of work and reams of data into a half hour, I came to understand the immensity of the progress made in understanding Huntington’s disease.

I was also impressed by the many angles from which science now views HD. The conference included 31 presentations (I heard 20) and 59 posters on the latest work done in Huntington’s research labs.

It’s now 17 years since scientists discovered the HD gene. Many people in the HD community had thought that an effective treatment would have been found by now. Others thought it might take decades. CHDI has sped up the process considerably with its huge investments in research and encouragement of scientists through events such as the conference.

Advances in such areas as antisense oligonucleotides and RNA intereference – both discussed at the conference – have brought the idea of treatments and a cure close to the realm of human testing. CHDI itself has identified some 700 potential drug targets.

Thus the problem today is not lack of possibilities, but a plethora of fronts on which the disease could potentially be fought. The scientific community now faces the challenge of choosing the correct targets and finding a way to administer them safely and effectively in humans.

Non-stop emotion

The challenge of assimilating this huge charge of information caused me to sleep fitfully.

I also felt the strange new sensation of being open about my real identity. I fully planned to tell people at the conference that I was “Gene Veritas” and gene-positive for Huntington’s. But my official CHDI name tag had only my real name and my affiliation with HDSA-San Diego.

When I arrived, CHDI President Robi Blumenstein asked me, “How are you going to present yourself?” I told him that I would tell people about my HDSA activism and let one thing lead to another. “Why not write ‘Gene Veritas’ on the bottom of your name tag?” Robi suggested. I thought, “What the hell,” and got a Sharpie to add my pseudonym.

I have been a living example of the many ambiguities and multiple identities that author Seagle observed in people. One of those identities was invisibility. Although I’ve stood on the barricades of the HD movement, I’ve preferred to remain pseudonymous for fear of discrimination. At the conference I took another big step towards visibility. I wanted, in Seagle’s words, to “soar” – to dominate the terrain of my life and the disease that threatens it.

A number of people who knew my blog said they were glad to meet me. Many more learned about the blog for the first time as I handed out a business card with the blog address written on the bottom.

I was especially moved when Michael Hayden, a world-renowned HD researcher at the University of British Columbia and reader of the blog, told me that I was providing an important service to the HD community.

Dr. Michael Hayden, HD expert and proponent of "civic science" (photo by Gene Veritas)

He added that he expects all of the scientists in his lab to practice “civic science” by meeting HD-affected individuals. That approach reflected what I felt from many people at the conference: seeking treatments and a cure for HD is a mission to assist people.

The CHDI conference kindled non-stop emotion. My adrenalin was pumping. I felt fully energized to continue the fight for a cure.

But the many new ideas and sensations stirred the core of my being. Near the end, as I was walking alone through the grounds of the hotel and trying to collect my thoughts, I suddenly heard my inner voice say: “My soul is restless.”

(Next time: a detailed summary of the scientific data presented at the conference.)

A Super Sunday HD story

On Super Sunday some 100 million Americans will watch some of the greatest athletes on the planet compete for the championship of the National Football League (NFL). Collectively these young men will earn hundreds of millions of dollars over the span of careers that probably won’t last beyond the age of 35. The winners of the Super Bowl will gain status as virtual demigods in a country where the Sunday ritual of watching football has taken over as the national religion, a religion where people profess a belief in sports as the path to success in life.

Like most American boys, I imagined myself as a sports hero. In high school and college I worked as a professional sportswriter. But over time I discovered many other pursuits, and I no longer had time or interest in following professional sports.

The strange twists of life, however, led me once again to follow professional football in a way far more meaningful than I could ever have imagined.

Football and HD

This story began in 1995 when I received the shocking news that my mother had Huntington’s disease. I became a board member of the San Diego Chapter of the Huntington’s Disease Society of America (HDSA) in 1998. The next year I tested positive for HD.

At around this time a brave lady named Ramona Johnston also tested positive. Ramona is the wife of Bill Johnston, the public relations director for the NFL’s San Diego Chargers franchise. Like me, Bill has dedicated his life to helping find a cure for HD.

Bill joined the board in 2000 and immediately established himself as the chief fundraising organizer. From 2004 to 2008 he served as president. He has parlayed his connections in the San Diego community and the football world into well over a million dollars in donations for Huntington’s research, including generous support from Chargers President Dean Spanos and his wife Susie and Chargers owner Alex Spanos.

As a fellow board member and editor of our chapter newsletter and website, over the past decade I have worked with Bill on countless occasions. Covering the chapter’s activities led me to resurrect my sportswriting skills as I produced article after article on the Chargers’ involvement with HDSA-San Diego.

At our events I’ve shared a bit of my family’s story with people like Marty Schottenheimer, who donated thousands of dollars to our cause while working as the Chargers’ head coach from 2002 to 2006.

In 2006 I interviewed star running back and kick returner Darren Sproles. Four members of Sproles’ extended family suffer from Huntington’s. The following fall Bill took me into the locker room to interview some of the Chargers offensive linemen, who have regularly attended HDSA-San Diego events and co-sponsored the chapter’s “TDs to Cure HD” program.

Rooting to escape

I became a Chargers fan. I shout and scream so loud after every touchdown that I scare my wife and daughter. Every victory puts a glow on the coming week, and every loss depresses me for a couple of days.

I cheer for the Chargers, but also for Bill, Ramona, myself, and the entire Huntington’s disease community. Chargers successes raise our hopes for increased fundraising and awareness.

Rooting for the Chargers on Sundays and following their news in the paper during the week also help me escape for a while from the dreadful likelihood of ending up like my mother, who lost the ability to walk, talk, and eat. She died of HD in 2006.

Comparing symptoms

Ramona is about my age. Watching her struggle with the initial symptoms of HD and then decline over the years has deeply saddened and distressed me as I worry about my own gene-positive status.

Naturally, I have compared myself to her and others in my age group who are gene-positive or at risk of being positive. And, naturally, I’m reassured that I’m still okay.

This brings up powerful emotions.

Bill’s hectic professional life and work in spearheading HD fundraising put many demands on his time. Occasionally the two of us will sit in his office and talk about our respective situations.

He makes a point of asking how I’m doing. I’m always deeply relieved to say, “I’m hanging in there: no apparent symptoms yet.”

But I also feel guilty, because Ramona now lives in a public care facility and can no longer take care of herself.

But I know that Bill is rooting for me and everybody else – including his untested young adult daughter – to beat this disease.

The Super Bowl of HD research

On Super Sunday I will wish both sides well, but especially Drew Brees, the quarterback of the New Orleans Saints. Brees attended several HDSA-San Diego events during his time on the Chargers, from 2001 to 2005. Brees has showed solid leadership in the New Orleans community in the wake of hurricane Katrina, and a Super Bowl victory would provide a lift in rebuilding the city’s infrastructure and spirit.

But I won’t have much time for the game. I’ll be making the final preparations for a long drive to Palm Springs to watch what might be called the Super Bowl of Huntington’s disease research.

I’ll be attending the Fifth Annual CHDI Therapeutics Conference and also the CHDI Clinical Workshop, scheduled from February 8-11. The CHDI Foundation, Inc., is the largest private sponsor of Huntington’s disease research in the world. Backed by an anonymous donor, in 2008 alone it spent some $80 million in the search for treatments and a cure.

While Brees, Peyton Manning, and the household names of professional football play out their X’s and O’s on the field, some of the world’s top HD researchers will be preparing to hone in on the latest data about mHTT (the mutant huntingtin gene), RNAi (RNA interference), and a slew of other discoveries and technologies entering into the playbook for stopping HD.

The HD stars will include scientists from CHDI, the University of Massachusetts Medical School, the University of California at Los Angeles, Columbia University, Johns Hopkins University, the Swiss Federal Institute of Technology, the University of Cambridge (England), Friedrich-Alexander University (Germany), Monash University (Australia), and a host of biotechnological and pharmaceutical companies.

I hope to interview, photograph, and videotape some of the scientists to help chronicle the historic fight to stop Huntington’s.

Intense feelings

As a person who is gene-positive for HD, I deeply identify with these scientists and their quest to rid humanity of HD and other horrible neurological conditions.

And as they warm up for the conference and workshop, I will ponder my own identity within the HD community. I plan to carry my HDSA-San Diego business cards. Undoubtedly people will ask me about my involvement with HDSA and my specific role at the conference. I will take yet another big step in coming out about my status.

In recent days I’ve thought once again about the dual nature of my existence – going back and forth between my professional life and my HDSA activism, between my professional writing and this blog.

I am struggling mightily to integrate these two facets of my life. To do so, I believe that I need to become more public about my status. At the same time, the very process of going public requires that I no longer live these two facets as separate.

Football stars and others in our celebrity-struck culture have thrived on fame. Ever since HD came into my life, I have had the opposite reaction: to keep an absolute firewall between my HD activism and the rest of my life.

A lot is riding on the CHDI conference for me and the HD community in general.

I think my Super Sunday ride will be every bit as intense as the game is for the football players.

Telling the truth about a disease

Since testing positive for Huntington's disease almost eleven years ago, I have focused intensively on five people.

First, I worried about my mother and tried to do my best to assist her, even though she lived in the Midwest, far from my California home. She died in January 2006. By extension, I also tried to help my father, a Huntington’s disease warrior who cared for her until the end and who died – spent from his years of caretaking – last September.

Each day I have faced the threat of HD, bolstered by my steadfast wife. As I wrote in my previous entry, she chose to stand by me when it might have been much easier to leave and start a new life with another man.

Of course, I have also focused on myself in a daily struggle to stay healthy and emotionally stable. In 1998 I became an activist for the Huntington’s Disease Society of America (HDSA), and for the past five years I have detailed my life by writing this blog.

Enter the “miracle baby”

Now my nine-year-old daughter approaches center stage in this Huntington’s dilemma.

Unbeknownst to her, she became involved at the moment we conceived her in October 1999. As I have chronicled various times here, I had gotten tested in June 1999 because my wife and I wanted to start a family and eliminate the possibility of having a child with HD.

Only in late January 2000 did we receive a phone call from our geneticist informing us that our child had tested negative in the womb. If she had not, we would have seriously considered the wrenching choice of an abortion – taking place, by necessity, after the first trimester because of the time it took for the lab test to be performed.

We hugged each other and cried the day we learned of the negative test result. It was one of the happiest days of our lives. We called our daughter our “miracle baby.”

Processing difficult information

Over the years we have mainly not sheltered our daughter from HD, as we believe that in the long run living with the truth is the best way to lead a life and face its many challenges.

We hate the ignorance and exaggerated denial we have observed in other members of our extended family. My mother’s brother and his wife never told their children about HD until my mother died, referring to her instead as a “mental” case. My sister never really wanted to discuss HD with me; her three sons grew up without understanding the genetic implications of the disease. No one in their family has been tested.

Our daughter knew from about the age of two that her grandmother was ill. We would tell her that “Grandma has a boo-boo on her brain.” She understood very early on that “Grandma was born with the boo-boo.” The concept of a genetic disease had been planted.

One time, she said to me as we were cleaning her up in the bathroom: “My daddy is not going to get sick, because he does not have a boo-boo on his brain. And I won’t get sick either.”

My daughter remembers the time she spent with her ill grandmother during a couple of short trips back to my hometown. Since my mother died, my daughter has come up with a different interpretation. As she understood the genetic nature of disease more clearly, she concluded that I perhaps could inherit it and she too.

I let it go at that, not wanting to worry her too deeply about me or herself. I wanted to give her the chance to process her observations on her own.

From Santa to reality

It reminds me of how I responded to our daughter's questions last spring about Santa Claus. As I was driving her in the car one day, she told me that a boy at her school of the same age had learned from his parents that they, not Santa, brought Christmas gifts.

“I want you to tell me the truth,” she said. “Is that true?”

“You want the truth?” I asked, to be sure.

“Yes,” she replied.

“Joshua is right,” I said. “Mommies and daddies buy the gifts. Santa Claus is for small children, and you’re not a small child anymore. Do you ever see a teenager or an adult sitting on Santa’s lap at the mall? No. People give each other gifts to celebrate Christmas. Santa is only for small children.”

I was afraid that she might cry or be scandalized. I thought of going into a big spiel about growing up and learning new things. But I held my tongue. To my surprise, she didn’t seem the least bit hurt. She quickly went on to another topic.

A natural approach

Interestingly, while understanding that my wife and I would be buying her gifts, this past Christmas our daughter still insisted on writing and posting a letter to Santa. I told her that I mailed it.

My wife and I agreed that she is in a transitional phase – really wanting to grow up and assert herself, but also wanting to hang on to the happiest aspects of childhood. As parents, we quickly came to understand the importance of a child's capacity to both process information logically but also maintain comforting fantasies.

So my wife and I also do not force the issue of HD on our daughter. We have let the subject come up naturally.

We’ve taken the same approach with respect to sex. We’ve shown her a book on girls’ health that discusses, for instance, the menstrual period, feminine pads, and tampons. At the right moment we’ll show her another book that specifically discusses sex.

We know that the discussion of my gene-positive status, sex, and genetics will probably all come together within a short period of time.

The moment is fast approaching, because, as she becomes more exposed to my HDSA activism, she will start to ask more questions.

Meeting a boy with HD

A big moment for her came on January 22, two days before my wife ran the Carlsbad Half Marathon to raise money for HDSA-San Diego. That night the marathon organizers held a special pre-race reception for the “Heroes of the Marathon,” individuals recognized for overcoming major challenges.

One of the heroes was Terry Leach, the 12-year-old boy with juvenile Huntington’s disease about whom I had written in December.

For the first time, I had invoked Huntington's disease as a lesson about life; I had used Terry’s story to show her how some people struggle against the worst of odds. A couple of days later she asked to see the pictures I took of Terry, and she read one of my articles on him.

I had told her that we would be meeting Terry and that his family would be at the “Heroes” reception. At first she wanted to go, but in the hours leading up the event she changed her mind. My wife believed that she was afraid to meet someone with a disease that she somehow suspected could affect me.

I wanted the encounter with Terry to be another learning moment for my daughter. After I explained to her the importance of honoring the heroes for their accomplishments, she did not protest any further.

I could tell that Terry was happy to see the people visiting him at his family’s table, because when I bent down to say hello and hug him, he gave me a kiss on the face. A bit later I brought my wife and daughter over.

My daughter briefly greeted Terry. Because Terry can’t speak, they couldn’t converse. My daughter can be quite shy at times, so she slipped into her observational mode and quietly took in the situation. I took a couple pictures of her standing between Terry and his mother Angela.

It was the first time she had met someone with HD besides my mother.

Calling an audible

Afterwards, as we drove home, we talked about Terry. She wanted to know if Terry got to see his father. I explained that he, too, had HD and lived in another state.

“Does his dad visit him?” she wanted to know. I explained that he was like her grandmother and could no longer travel.

The next question was perfectly logical. But it still stunned me.

“Can you get Huntington’s?” she asked me.

It was a question that I was probably expecting for a long time. I hadn’t specifically prepared for it as one might for an examination or a meeting, but I made many mental notes over the years about how to discuss HD with my daughter. I had also played many scenarios through my mind.

I obviously wanted to avoid the denial and ignorance I had witnessed in my own family. Rather, I had positive examples of how other families had raised their children with full knowledge of HD. These families clearly appeared to deal best with the topic. Rather than try to escape, they confronted reality directly, no matter how dire the circumstances.

In 2008 I watched a presentation at the local HD support group by Bonnie Hennig, a licensed clinical social worker specializing in Huntington’s disease and children. She wrote a booklet titled Talking to Kids About Huntington’s Disease: A Book for People Who Know Children with HD in their Family. I found myself agreeing with her assertion that families should discuss the disease, but always in terms that children can understand.

Yet I still had to think very carefully before responding to my daughter. My mind had to quickly compute all of the possible answers I might give and the effect they might have one her. I felt like a quarterback calling an audible at the line of scrimmage in a football game.

Could I get HD? After a brief pause, I said, “Yes, I can.”

She still did not know that I was gene-positive – that her own dad also had a “boo-boo on his brain.” But the question and response were solemn enough that she must have felt the import of what I had said. This was the first time that I had revealed the possibility to her.

She did not ask any more questions about me. And I did not volunteer any more information. As I discussed later with my wife, the flood of information about HD that night had been plenty.

Growing up strong

On Sunday, January 24, the three of us arose at 5:30 a.m. to get ready for the half marathon. I drove my family and another mother and daughter to Carlsbad. The girls saw their two moms get in position for the race, and later the three of us watched them cross the finish line.

This time my daughter wanted to see Terry again. We didn’t see him anywhere near the start or finish lines. My wife then informed us that Terry and his family were at mile No. 3 cheering on the HDSA runners. Our daughter wanted to go there to see Terry, but we explained that we were not allowed to visit the race course because we would interfere with other runners.

I think she took a big leap forward that weekend. She saw her mother compete in a half marathon to raise money for a cause. She met a boy not much older than she who had HD. And she began to understand that HD threatens our family.

Wanting to see Terry again was a good sign. She was no longer so afraid. Nobody knows what the future holds. But, when HD begins to exact its toll on me, I think my daughter will be strong.

As best we can, my wife and I are trying to provide her with good examples of strength and honesty.

When the pain brings a smile

Today I write in tribute to my wife and to the tens of thousands of other individuals around the world who face the prospect of seeing a spouse or other family member struck with Huntington’s disease.

You see, only hours ago my wife – with just a few months of training and still recovering from a painfully strained back – ran a half marathon to raise money for the San Diego chapter of the Huntington’s Disease Society of America. Just a few weeks shy of her 43rd birthday, she had never before run in a race. In fact, she hadn’t even really run at all.

Living gene-positive for Huntington’s, I spend a lot of time worrying about my health and wondering about the impact on my family when my symptoms start. Huntington’s affects everybody with a positive test for the genetic defect.

Doing whatever is necessary

But only now am I really beginning to appreciate how much my wife stands behind me.

She made it through the 13.1-mile Carlsbad Half Marathon without reinjuring her back, but she pulled a calf muscle. I had to help her sidle back to the car and, as I write, I can hear her limping down the hallway.

My wife in her HDSA-San Diego t-shirt at the Carlsbad Half Marathon (Gene Veritas photo)


A few minutes ago she came in to my home office to give me a hug and a kiss. I congratulated her once again on the race.

“I want you to know that I’ll do whatever is necessary to stop you from getting HD,” she said.

A life of hard knocks

Things could have been far different.

It was just three years into our marriage, in late 1995, when my wife learned that I was at risk for Huntington’s. That’s when we received the news that my mother had HD and I had a 50-50 chance of inheriting the condition (click here to read more).

Suddenly our future seemed dim. Starting a family became an extremely complicated affair, with me first testing positive for HD in 1999 and then, less than a year later, having to wait several agonizing months to learn whether the baby she was carrying also had HD.

In 1995 my wife could have taken the easy route and left me.

After all, she had already made an enormous transition in her life by moving from South America to marry me. Here some people shunned her because of her immigrant status, but she overcame that barrier and others to achieve what few immigrants in her field of teaching have attained: whereas many immigrants are pigeonholed to work with non-native English speakers, she obtained a job teaching American-born students in an all-English classroom.

A good deal of her ability to persevere comes from growing up in a country where most people lived in poverty. Forced on hard times and with no welfare system or food stamps to back them up, during her teen years she and her family often ate a diet of only rice, beans, and vegetables.

On January 18, Martin Luther King Day, we celebrated the removal of the braces she wore the past two years to straighten teeth gone crooked in youth. At the time, her family could not afford even basic dental care.

Standing by her husband

So, you see, my wife has known very hard times. And then Huntington’s disease threatened to plunge her into yet another dark period. The thought of me becoming symptomatic eats away at the tranquility that she fought so hard to construct.

In my nearly 15 years of experience with the HD community, I have heard many stories of divorce (click here to read the painful story of how one relationship ended). In 1995 my wife was just 28 and could have started a family with another person. She could have gone back to her native land. She could have utterly avoided the potential nightmare of Huntington’s disease.

But she stood by me.

Before our daughter was born, each month we attended the local Huntington’s support group. We both had a difficult time watching HD patients struggle with chorea (shaking of the limbs), cognitive impairment, and other problems such as the inability to speak. Usually the second part of the meeting consisted of small group discussions for caregivers, the affected, and the at-risk. Hearing spouses speak of the daunting, daily task of HD caregiving struck fear in my wife’s heart.

Regaining strength

We would often leave those meetings depressed and hopeless.

Worst of all for my wife was watching my mother’s symptoms progress. For me, seeing my mother was like looking into a genetic mirror, my own future with HD. When my wife looked at her, she could not escape the likelihood that her husband would succumb to the same terrible conditions.

She knows all too well what the caregiving could become, after seeing my father, a Huntington’s disease warrior, care for my mother for 15 years.

Yet somehow we regained our emotional strength after support group meetings and after extended visits from my parents, who lived in another state. Looking back on it, I see that my wife’s dedication and companionship provided the positive energy necessary for both of us to keep going.

From dreams to reality

Last month we celebrated our 17th anniversary, and our daughter is now nine-and-a-half.

Along the way, the threat of HD has forced us to give up many of dreams, such as purchasing a home in her homeland, moving away for better (but perhaps less secure) job opportunities, and having more children. Our daughter tested negative in the womb, but my wife has felt the deepest of frustrations at not having another child.

Turning 50 last month, I have already surpassed the age at which my mother’s behavioral and psychiatric symptoms probably started. She died four years ago this month, at age 68. Knowing that HD could be imminent, we focus on keeping me healthy, raising our daughter, and enjoying life.

Accomplishments and pride

For many years my wife did not attend support group or any HDSA functions. Rather, I attend support group or work on a myriad of HDSA-San Diego activities, while she cares for our daughter and handles many of the household tasks, all in addition to her own full-time job.

Now that our daughter has become less dependent on us, my wife has stepped up her involvement with the HD movement. Last fall she hosted a Board Appreciation Night for HDSA-San Diego at our home. Board member Sally Cravens, who regularly runs in HDSA-San Diego events and has brought in thousands of dollars in donations, inspired her to run in today’s Carlsbad event.

It was literally painful for my wife to prepare for and run the race. But she’s not complaining. On the contrary, she has smiled and had a wonderful glow on her face all afternoon and evening. As she put it, “I can put up with the pain.” What’s most important is supporting the cause.

She’s accomplished a lot – completing the race and raising funds and awareness for HDSA.

And she’s made me one very moved and proud husband.