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.

Squeezing in the life

Because I am gene-positive for Huntington’s disease, I know my time could be extremely limited. As a result, I’m squeezing as much as I can into my life before the symptoms start.

This feeling especially impacts me during the holidays. For me the end of the year brings celebration, but also reflection, in large part because my birthday falls on December 31.

This time I turned 50, so I became especially contemplative.

Ups and downs of 2009

I had much to be thankful for. During 2009 I achieved great progress as an activist for the San Diego chapter of the Huntington’s Disease Society of America (HDSA). Among many other activities, I inaugurated a new website, reported on the project at Isis Pharmaceuticals, Inc., to stop HD in its genetic tracks, and completed my fifth year of writing in this blog.

And I remained free of overt symptoms.

When I tested positive for HD in June 1999, I thought that by 50 I would surely have developed the disease in the same way as my mother, whose psychiatric symptoms probably began in her late forties.

I cannot predict tomorrow. But it felt especially good knowing that I had beat HD in 2009.

This month marks the tenth anniversary of the news that our daughter had tested negative for HD in the womb. Our “miracle baby” is now nine and a half. Knowing that she is HD-free and can develop to the fullest of her potential once again brought a great sense of relief. Even though HD might strike me down, a part of me will live on in her.

But 2009 also brought enormous stress and sadness. My father, the Huntington’s disease warrior who cared for my mother for 15 years, declined rapidly and died on September 25.

By December, 2009 became one of those years that I just wanted to end.

A Huntington’s manifesto

The last few weeks of the year I delved into writing a long article I’ve titled “God, Huntington’s disease, and the meaning of life,” which I hope to post here in the near future and perhaps publish in a magazine or journal. The article, which I have dedicated to the physicians and scientists seeking treatments and a cure for HD, represents the culmination of several years of reading and reflection in an attempt to make sense of the extraordinary predicament faced by gene-positive and HD-affected individuals.

As I wrote, I oscillated between almost unbearable anxiety about the likelihood of a shortened life and almost manic exhilaration about finally having discovered a way to fit my gene-positive status and HDSA activism into the big picture of life, science, and history.

Like so much in my HD-ready life, I felt a deep urgency to finish the article. Indeed, as my wife and daughter made the final preparations for our annual combination birthday/New Year’s Eve celebration, I sat at the computer frantically tapping out the final paragraphs of the piece.

Finishing the article just before I turned 50 was profoundly symbolic. I described it as a “manifesto of faith and HD.” It was like a rite of passage that I needed to complete before entering a new stage of life.

Although I often feel that I have already lived life with the greatest intensity possible, turning 50 and producing that manifesto have galvanized me to seek a new, higher, and even more intense stage of activism, writing, and living life.

A new urgency

So 2010 started with a new burst of activity and a new urgency about squeezing in as much life as possible into the symptom-free time I have left.

I began by sharing my manifesto with several people and initiating an intense conversation with them about how to share it with the HD community. One doctor friend already wrote back with helpful comments on New Year’s Day.

On January 4, I started an extra, temporary job to earn money for a planned cross-country family road trip this summer. I have good memories about such trips with my parents when I was a child. I want to bond with my wife and daughter by exploring with them the beauty and fascinating history of our country.

The trip will be especially poignant for me, because I often wonder whether my gene-positive status will prevent me from seeing my daughter graduate from college and start her own career and family.

Meeting a renowned activist

On January 7, I came out about my real identity to one of the leaders of the HD movement over the past several decades, Alice Wexler, the author of Mapping Fate: A Memoir of Family, Risk, and Genetic Research and The Woman Who Walked into the Sea: Huntington’s and the Making of a Genetic Disease, which I reviewed in 2008.

I have long admired Alice, as well as her sister and renowned scientist Nancy, who helped discover the HD gene. After their mother developed HD in the 1960s, their father, the late psychoanalyst Milton Wexler, founded the Hereditary Disease Foundation, a leader in the search for treatments and a cure.

Now I was sitting across from Alice and telling her about how my family learned about my mother’s illness and my subsequent struggles with living at risk.

Should I go public? If so, when and how? What impact could I have in the HD community and beyond with my activism and writing? How had my gene-positive status enriched my life? How had genetic discrimination impacted our lives and the lives of other at-risk people we knew?

A special bond

For two-and-a-half hours we discussed these questions, as well as my manifesto on faith and HD, which she agreed to read.

It was a singular moment for me. Alice has spent most of her adult life living at risk and researching and writing about the social aspects of Huntington’s disease. I felt privileged to meet someone so important in the HD community. I also felt that she had instantly become a new friend – even a sister – in arms against HD. Few people could understand me in the way that Alice could.

Bonding in this way means a lot, because my own biological sister has lived in deep denial about HD and disowned me and my family.

As Alice and I said goodbye, we hugged for a long time.

Leaving the plateau

On January 12 the HDSA-San Diego board held its first meeting of the year. There, too, I felt a sense of urgency.

For several years now our chapter has been a leader in fundraising, advocacy, and other areas. But at the meeting people seemed to be saying that we were standing on a plateau still looking at the mountainous challenge of stopping HD and assisting affected families. For the first time we began to challenge ourselves to start moving off that plateau and up the mountain.

I left feeling the meeting feeling once again the enormous burden of HD on my shoulders – a burden that I carry for myself, for my family, and, along with so many other activitists, for the entire HD community.

In 2010, I thought, I will need to become better on all fronts: more efficient at my two jobs – my “real” job and my HD work; more dedicated to eating, sleeping, and exercising properly; and more thoughtful, focused, and loving with my family. At the same time, I will have to become better at relaxing and enjoying the moment.

That’s a lot to squeeze into life. I just need to make sure that I don’t squeeze too hard.

Feel the love: a family faces juvenile Huntington’s disease

I could feel the love flowing in the Leach family for 12-year-old Terry, who struggles against the ravages of juvenile Huntington’s disease. (Click here to read my article about Terry.)

During my visit to the family on November 27, I watched big brother Charles, 18, pick up Terry and carry him from one room to another.

I heard how little brother Richard, 9, helps Terry put on his socks every morning and prepares his bowl of cereal.

I listened intently to Jennie, his 17-year-old sister, who wheels him out to the school bus at the start of each day. She is a virtual repository of profound observations about Terry’s daily fight to live with a disease that has afflicted him since infancy, stopped him from walking and talking, and, medical statistics suggest, reduced his life expectancy to fewer than 20 years.

I sat next to Angela, Terry’s mom, as she leafed through a massive binder of her handwritten notes and official medical reports on his condition, including the document revealing the results of Terry’s positive genetic test for Huntington’s. She works full-time, takes Terry to his frequent doctor’s appointments, and holds together a family whose HD-stricken father departed for another state after he left a legacy of an HD-affected son and increasingly aggressive, disruptive behavior.

And I conversed with Terry, who understood all of my questions and responded by tapping letters and symbols on a special touch-screen computer that translated his commands into words and sentences. I perused his report cards, filled with A’s, and I held the beautiful Mother’s Day card that he made for Angela by painting flower petals with his thumb print.

The Leaches: Jennie and Charles (standing)and Richard (left), Angela, and Terry (photo by Gene Veritas)

An important lesson

On that day I learned a very important lesson about Huntington’s disease, a lesson I had failed to fully comprehend about my own mother, who died of HD in February of 2006: no matter how fateful HD’s symptoms, the inner mind of an HD person remains vibrant.

Many people react to Huntington’s people by turning away, figuratively or literally. At times I could not bear to countenance my own mother – she was a “genetic mirror” reflecting my own likely future. I have written frequently about HD’s dehumanization of people and its destruction of families.

But Terry and his family drew me into their lives and showed me the great reservoir of humanity to be found in this predicament – especially if love is not forgotten.

And Terry’s eyes show the spark of desire to live life to the fullest.

Family sacrifices

Terry’s family badly wants him to have that life. They have made great sacrifices.

Because of a demanding schedule centered on Terry, for years Angela had to postpone involving Richard in after-school activities. “Richard did football for the first time this last season, and it was tough,” she told me. “Now I know why I shied away from doing things like that with him.”

Terry’s younger brother is one of his caregivers. “He’s grown up a lot,” Jennie said. “He’s nine years old but he acts like an adult.”

I asked Angela about her hopes for Terry and the pressures of being a caregiver.

“To provide him with the best-quality life that I can,” she replied.

“I’m going back to school to study accounting. I hope it can help me focus my energy on something good. Sometimes I feel helpless. As much as I can do for him or anybody can do for him, it doesn’t feel like it’s helping him in the long run. I worry about the future.”

Togetherness

After my interview with the family, they agreed to shoot a short video with a holiday greeting. At first Angela was nervous and at a loss for words, but after a few takes everybody finally got it right. Watching them through the eyepiece, I was moved by their strength, togetherness, sense of humor, and spirit.

As I prepared to leave, I told Angela that my mother had died and that I am gene-positive for Huntington’s. She had revealed to me that Richard had tested negative, and I shared with her that my daughter – the same age as Richard – is also negative. (Charles and Jennie are from a previous marriage and are not at risk.)

“We’re all in this together,” I told Angela.

Terry’s example

I always tell my daughter a bedtime story. On the night of November 30, after an evening of family frictions resulting from her complaints about fourth-grade schoolwork and not enough play time, I resolved to tell her about Terry and his struggle against the worst of odds.

“Many people have a much tougher life than you,” I told her. “But they don’t give up.”

My daughter knows that I am a Huntington’s activist, but not about my gene-positive status. It was the first time that I used a Huntington’s story to teach her about life. Two days later she asked to see the pictures I took of Terry, and we talked some more about his predicament. She read my article on Terry – the first time she has read something I've written about HD – and watched me place the piece and my photos on the web.

Soon she’ll learn about my own genetic truth.

The Leach family will undoubtedly serve as an important reference point – not only for her, but for many families facing Huntington’s and other devastating neurological diseases.

Smelling the flowers at Thanksgiving

Thanksgiving is a time to slow down and reflect on all the good in our lives.

As I wonder about when I will follow in my deceased mother’s footsteps and develop Huntington’s disease, one thing I am most grateful for is the opportunity to spend time with my nine-year-old daughter.

She is our “miracle baby”; she tested negative for HD while still in the womb.

One of the keys to life – and especially to living with a gene-positive status for a devastating brain disease – is seizing the moment. Each moment is unique and will not return.

We must smell the roses – but also appreciate many other kinds of lovely scents and scenes nature and our lives have to offer.

One recent afternoon I decided to surprise my daughter by taking her to the San Diego Botanic Garden. The pictures you see here are hers.

My daughter loves seeds and plants. Shortly after she started to walk, at around ten months, I started to take her to a local park. There she discovered all kinds of plant parts to collect. I was her assistant. She learned to make “soup” with these interesting ingredients. Often we had to bring everything home for her to keep.

Two years ago I helped her with her first science fair project. She planted seeds and measured and graphed the growth rate of several species. This past year she studied pollution flowing into the Tijuana Estuary and the Pacific Ocean.



These days we still bring home sticks, pine cones, petals, and her beloved seeds.

I sometimes tell her she’s going to be a botanist.

For many years, my wife and I didn't talk about our daughter’s genetic test. After worrying so much about HD’s impact in so many aspects of our lives, we wanted to enjoy her without the disease’s ugly possibilities marring the one area of our life that was normal.

Lately, though, as she has matured, the consequences of our decision to have her tested have become powerfully present. She is free from HD.

A couple days ago my wife recalled how, before the genetic test, she had often felt the baby’s kicks and wondered whether we would continue with the pregnancy. Had she tested positive, we would have contemplated an abortion, which we oppose on moral grounds but recognize as necessary in some cases.



Now, as she flowers like the beautiful plants that she loves to photograph, our daughter will soon start learning about her father’s gene-positive status.

Perhaps her budding interest in nature will help her comprehend and accept my own biological reality.

But that story is for another day. For now, I want to enjoy her photographs and her own beautiful life.

No time for fear

Knowing that I will almost certainly develop a devastating brain disease, how do I deal with fear?

A good friend posed that question to me on the afternoon of Halloween. He called just as I was settling down into my comfortable recliner to relax a bit and watch some television before my daughter, accompanied by my wife, went out trick-or-treating and I prepared to man the front door.

I can’t remember anyone ever asking me that question so bluntly in the ten years since I tested positive for Huntington’s disease.

The question took on special urgency, because my friend, who had nearly died of lymphoma in the 1990s, would find out in a couple of days whether his recurring symptoms, including intense headaches, signaled a return of his cancer. His anxiety had become unbearable, and he needed help.

Many strategies

For an hour and a half I described some of the strategies I had employed over the years to confront my many worries about Huntington’s: working with a psychotherapist, taking various drugs for anxiety and depression, and reading the book Don’t Sweat the Small Stuff … and it’s all small stuff as well as some writings by the Vietnamese Buddhist Thich Nhat Hanh. I also try to exercise, live in the moment, and to connect with my spiritual dimension, for example, by attending Mass.

I spent most of the time explaining the positive and negative reactions I had to different medicines and how it had taken me years, with the help of my therapist and several psychiatrists, to find a combination that kept me emotionally stable.

I also emphasized the importance of building a trusting, long-term relationship with a therapist – a person I can call upon to discuss difficult feelings and help me maintain stability. I like to refer to my therapist as my “mind coach.”

Personal trainer for the mind

“Doesn’t LaDainian Tomlinson have a personal trainer?” I asked my friend, a big football fan, in referring to the star running back of our local team, the San Diego Chargers.

“Sure!” he replied.

“My therapist is like a personal trainer,” I continued. “She’s my mind coach. She helps me keep my mind working at its best to meet the challenges of living at risk for HD, just as a personal trainer or coach helps a professional athlete keep his body in top shape.”

Paralyzing memories

When I hung up, however, I felt distraught. I was deeply worried that my friend’s cancer had returned and that he might die.

And I was faced once again with my gene-positive status for Huntington’s. I found it especially troubling to recall the last weeks of my mother’s life, when, seeing her completely debilitated by HD, I felt as if I were looking into a genetic mirror – my own future as a Huntington’s patient unable to walk, talk, or even swallow. After she died in February 2006, it took me months of mourning and a new combination of drugs to stop the panic attacks I was suffering, bowing down low, over and over, mimicking my mother’s symptoms (click here to read more).

I immediately took down some notes, thinking that I would blog in the next day or two on the subject of dealing with fear.

But the memories of my own deepest fears emotionally paralyzed me, and I decided to wait.

No “magic bullet” for fear

It also struck me that I hadn’t really answered my friend’s question. I had described to him my coping mechanisms, but I hadn’t even scratched the surface of my feelings about HD.

My friend has read much of this blog over the years, so he had a general idea of my struggles in living at risk. But even in writing more than 50 posts over nearly five years, I still hadn’t fully described for my readers – or for myself – how I was confronting my gene-positive status.

The more I thought about it, the more I concluded that I had no single, simple answer for “dealing with fear.”

Some excerpts from my notes reveal the jumble of thoughts that came to mind and the lack of a “magic bullet” for overcoming fear:

Wife. Distractions…. Finding right pills…. Deep breathing. Letting water run on my head in shower. Spirituality, attending church, thinking about the larger questions of humanity. Feeling part of the HD movement. Sharing with others. The blog…. Exercise, swimming, walks. Work as a distraction. Denial…. Hope for treatments, research. Pretending I’m immortal. Remembering how at age five I decided I would never die. Pretending that it’s all a bad dream. Pretending that I’m a child again. Focusing on [my daughter] and her development. Many times I tell myself that I will beat the disease.

Every reminder of HD – and they come at least once each day – leads me to select one or more of these strategies.

Making sense of the struggle

Next month will mark 14 years since I learned that my mother had HD. In retrospect, I have fought hard to stay healthy, stable, upbeat, and, as an activist for the local chapter of the Huntington’s Disease Society of America (HDSA), engaged in the campaign for treatments and a cure.

My friend’s question about “dealing with fear” forced me to analyze once again my quest for survival. Fortunately, his cancer test results came back negative. But his own deep fears, and a bit of my advice, have prompted him to take greater care of his emotional health as he continues to live at risk for lymphoma.

In my case, I now see more clearly that I have conscientiously strived to devise my own unique strategies for confronting fear and to construct a network of human support via my family, friends, and HDSA.

Constructively confronting fear

So how have I dealt with fear? As I live at risk for Huntington’s disease, fear shadows me constantly. But I know the fear of HD well – so well, in fact, that dealing with it is now part of the routine of life. I try as much as possible to keep it in perspective and not allow it to stop me from focusing on my family and my activism.

I have constructively confronted fear. And this is a daily task.

It struck me that, as Jackson Browne put it in his song “The Pretender,” in the evening I lay my body down, “and when the morning light comes streaming in, I’ll get up and do it again. Amen.”

These past few days I have perceived yet another facet of living at risk for Huntington’s disease.

“I have no time for fear,” I concluded. Acknowledge it and move on.

Creating hope

Living at risk for Huntington’s disease frequently leaves me emotionally drained. Sometimes I fantasize that it’s all just a nightmare from which I’m about to wake up. Other times I wish I were a different person with just normal worries, free from thoughts of suffering and death.

I discovered that my mother had Huntington’s in 1995. I tested positive for the disease in 1999. I attended her funeral in 2006. This year, on October 4, I held a memorial service for my father, the Huntington’s disease caregiver-warrior who gave up on life not long after her death.

It would be a vast understatement to say that the last few years have been difficult. Life in the Huntington’s disease trenches brings a steady barrage of troubling thoughts resulting from the death of loved ones, abandoned dreams, and the underlying worry about when my own symptoms will start and how my wife, daughter, and I will cope.

But at the core of the human spirit lies hope. Each day I must summon that hope. As an activist for the Huntington’s Disease Society of America (HDSA) and at-risk blogger, I have met this challenge for more than eleven years.

Acting and living hope

I have learned that hope is not just a feeling, nor fantasies about a better life, nor a fervent prayer for the cure of HD – it's action.

I can’t just feel hope. I must live hope.

As I wrote in my previous entry (click here to read more), my HD activism has become the center of my life and transformed me as person.

Understanding the research

When I research and write about the efforts to find treatments and a cure, I am building hope. The potentially most significant effort at controlling HD happens to be occurring just a few miles from my home, at Isis Pharmaceuticals, Inc., in Carlsbad, California (click here to read my report). In 2011, Isis scientists hope to begin the first human tests of a drug that would halt HD at its genetic roots.

I visited Isis last year and again this past July to interview the scientists involved in the research and shoot photographs of their work. Incredibly, the Isis project, which is funded by the Los Angeles-based CHDI Foundation, Inc., is still relatively unknown in the HD community.

I believe deeply in the need to understand and monitor this project. The privilege of meeting and understanding the work of these individuals gives me at least some sense of control over my own destiny. I want to know exactly how this disease works – and exactly how the potential Isis drug might work like a soldier within my brain cells to defend them against the ravages wrought by my mutated huntingtin gene as it generates handicapped proteins.

Electrifying news

Several years ago I described how watching my mother struggle with her symptoms was like looking into a “genetic mirror” (click here to read more). I had inherited my defective huntingin gene from her and would likely develop the disease around the same time she had – in her late forties and early fifties.

I turn 50 this year. As Isis and many other projects explore the intricacies of HD-affected cells and seek solutions for the disease, I gaze into another kind of genetic mirror: a model of my own compromised cells.

Not long ago people thought that the Isis approach might be feasible around the year 2025. Back then every other possibility of a treatment seemed at best partial, both limited in its potential effectiveness and quite distant in the future. (Click here to read about my “ups and downs” in waiting for a cure.)

The first news about Isis two years ago came to me like a lightning bolt, and I want to keep passing on that electrifying feeling to everybody else in the HD community and beyond. Although nobody can guarantee that a potential Isis solution will actually work, I want my articles on Isis to generate excitement and hope.

Excitement and confidence

Now I am preparing a series of articles on CHDI, which has become the prime mover in HD drug discovery with a budget last year of $80 million. In a nutshell, CHDI is like a miniature Manhattan Project to stop HD. The researchers’ excitement and confidence are palpable.

I had a similar feeling on September 28, when Dr. Jody Corey-Bloom, the director of the HDSA Center of Excellence for Family Services and Research at the University of California, San Diego, revealed a plethora of approaches for HD treatments during her annual research update to the local HD support group.

One of the most inspiring HD presentations that I have seen, Dr. Corey-Bloom’s report is a “must see” for everybody. I posted it online the next day.

At the ninth annual HDSA Celebration of Hope Gala in San Diego on October 17, the master of ceremonies, ESPN Monday Night Football anchor Mike Tirico, briefly described the Isis project to the 500-strong audience and congratulated the company on its efforts. Events like HDSA-San Diego’s “In the Huddle” mainly focus on fun and fundraising, but the mention of Isis allowed the science to shine through for a moment (click here to watch the video I shot).

That moment became possible thanks to CHDI’s generous backer and the many scores of HDSA fundraisers of all sorts and sizes held across the country in recent years. They have kept the money flowing into the labs, where scientists are hard at work on treatments and a cure.

We in the HD community surely need a big shot of confidence after so many decades of discrimination, ignorance, and lack of progress in the search for treatments.

Hugging HD-affected friends

I always come away from the gala emotionally wired. To see an important part of the local community – including the president, coaches, and many players of the very generous San Diego Chargers NFL football team – rally to our cause is a great confidence-builder for our local HDSA chapter.

At the gala I also encounter families affected by HD. I hugged two of my oldest friends from the at-risk section of our support group. Both of them are now symptomatic and have left their jobs. But they have fought every step of the way to minimize the impact of their symptoms and to galvanize others into supporting our cause.

Sharon just contributed an article to the HDSA-San Diego website about the 2010 Race Across America, in which her husband and three other men will for the third time cross the country by bike in just eight days or less! (Click here to read more.)

Julie simply inspires me. We forged a friendship outside of support group, and every year my family and I look forward to the holiday cards she designs with one of her beautiful paintings on the cover. A few years ago, before her symptoms started, Julie fought and beat breast cancer. Although she has lost some of her stability and had to lean on her husband during the dinner, we conversed normally. I was glad to hear that she is at work on yet another painting.

The mystery of solidarity

Hugging these sisters in Huntington’s disease is a deeply moving and mysterious experience. It inevitably reminds me of my mother, but it is much more than that.

We know one another so profoundly because of the genetic defect we share and all of the sadness, loss, and discrimination that have resulted from that fact. I feel sorrow for them as their symptoms progress. (I’ve heard Sharon say that she’s not worried about herself, but about the future of her two teenage daughters.) And I know that they fear for me and my family as we worry about my health.

But I also gain strength in watching them persevere. By sharing our experiences and building solidarity, we once again create hope for ourselves and for the HD community.

Spiking adrenalin

Less than 72 hours after the dinner I was scheduled to undergo my annual checkup at the Center of Excellence. I started getting informal checkups around eight years ago. I could do this because the people at the center knew me from my work for HDSA. I wanted to keep HD out of my official medical record, because of my very real concerns about potential discrimination.

Four years ago, however, I decided to become an official patient so that I could go through the full, formal workup all HD patients get on a periodic basis. I wanted to make sure I'd get the best possible monitoring of my health and the best advice on how to care for myself. Luckily, the Center of Excellence is separate from my health plan, so my confidentiality is protected.

I awoke at 4 a.m. on October 20, an hour and a half before my usual time and with my adrenalin already spiking. It was going to be a long day at work before the 3:30 p.m. appointment at the clinic. I wrote in my blog notes: “HD clinic today – yet one more reminder that I could get very sick! How many times do I need to be reminded?!”

When no change is good

Because I had recently gone through numerous batteries of neuropsychological tests for HD research experiments and done well, I entered the consultation room confident that I could repeat my good performance. I successfully carried out the tests administered by an assistant.

The doctor gently shook one of my hands up and down in his hand while asking me to draw a circle in the air with my other hand. He had me look up, down, left, and right without moving my head. He checked my reflexes, and he had me stand still while he pushed me hard from the back to see if I could maintain my balance. Finally, he had me walk down the hallway and then return on a straight line in the same way that a cop checks a suspected drunk driver.

The doctor supplemented these observations with questions about other aspects of my health and a general conversation about my life, my work, and my HDSA activism. He also reviewed the notes from past visits.

The doctor had personally examined me on past visits. (Last year I had been assigned a relatively inexperienced resident who mechanically performed the examination and did not appear to have the more holistic approach that this doctor had acquired, so I firmly insisted that I get to see him too.) “I see no change over the past four years,” he concluded.

In an era when Barack Obama made the word “change” a great national slogan, the phrase “no change” provided great relief. I had survived another year without any apparent overt symptoms of HD. Those symptoms could start at any moment and carry me down quickly, as I saw in the case of my mother and many other HD patients. But for now, at least, I can continue to function normally, enjoy my family, and carry on with my advocacy.

I had worked diligently over the past year to get to this point in stable health. Once again, with the assistance of the Center of Excellence, I had created hope.

Another side to HD

Shortly after I, in deep pain, wrote about my father's death, Dr. Martha Nance, the director of the Minneapolis Center of Excellence, sent me an article that she had just written and titled “The other side of a dark disease." Two days ago, I finally had a chance to read it.

“There is another side to HD … which needs to be told – a story of beauty, courage, engagement and inspiration,” she wrote.

Dr. Nance recounts the valiant actions of children coming to the aid of their HD-affected parents, communities creating fundraisers and rallying around families touched by the disease, and old high school buddies and rivals joining to help care for a former classmate who has HD.

“As it passes from generation to generation, HD insinuates itself into the fabric and history of a family and community,” Dr. Nance concluded. “I have heard many stories of sadness, scorn, and hopelessness among my patients. But I hope that these tales of humanity and generosity will serve as a reminder that families, friends, and communities have the potential to do great good – and that the goodness, in turn, will rub off on others in ways that we may never know.”

Because a few people fearlessly stepped forward to assist people with HD and raise awareness, thousands learned about the disease and became an extended community of caregivers.

That, too, is how we can live hope and create it anew each day.

My new profession: HD activist

The threat of Huntington’s disease in a gene-positive person’s life cuts down many hopes and dreams, including the drive for professional success.

In the ten years since I tested positive for the genetic defect, I have steadily diminished both my considerable career ambitions and my commitment to my profession, which requires substantial intellectual commitment.

I joined the board of the San Diego chapter of the Huntington’s Disease Society of America (HDSA) in 1998. From 2001 to 2007 I researched, wrote, edited, and laid out our tri-annual newsletter.

On average I spent about six weeks a year working on the three issues. I interviewed many people in the local HD community and encouraged others to write about their stories. The most intensive period of work would start on a Friday evening and extend through twelve-hour Saturdays and Sundays, during which I came out of my home office only to eat or briefly say hello to my wife and daughter.

Friday night folding parties

Many a time I drove the diskette or CD to the printer, troubleshot last-minute problems, and drove around with boxes of newsletters in the trunk of my car. In the early years, before we employed a print shop that automatically folded the newsletters, our board held Friday night “folding parties.”

We’d sit or stand around a table and fold the 1,500 or so copies. Then we had to stick address labels on them and sort them into boxes by zip code so that the post office would give us the non-profit bulk rate.

My wife helped out, as did our toddler daughter. I remember her sitting on the floor with newsletters in front of her. It was one of her first experiences of contact with people outside the immediate family. I was proud of her, and I always felt happy and relieved to know that she had tested negative for HD while in the womb.

Running the website

I designed and implemented our very first website in early 2002, a do-it-yourself project on Tripod.com. Shortly thereafter a local company, Lawinfo.com, generously donated the services of a professional designer, and we were off and running with online communications.

That site soon needed a serious revamping and, in late 2007 we haltingly began the project. The work became intense in the second half of 2008, when another board member and I researched companies and interviewed their representatives. Thanks to my board colleague, who had extensive experience in website oversight and content management, the process went smoothly.

After we selected Regency Web Services of Irvine, California, the highly intensive, detail-oriented work of design and construction began. In February, I spent a day in Irvine learning the custom content management system. Our new site finally went live in April.

Two jobs

Throughout this entire period of writing newsletters and managing the website, I also attended monthly board meetings, helped with and reported on fundraising events, participated in HD support group meetings, and became deeply involved in HD advocacy, especially in the area of stem-cell research. I have also monitored the chapter’s e-mail inbox.

All this work is like having two jobs.

The more time, thought, and energy that I dedicated to HDSA, the less I concentrated on reaching the upper echelons of my field.

In 2007, I had a job offer that would have positioned me quite well for the move to the top (click here to read more). It included a very substantial raise, greater responsibility, and the chance to work with some of the most accomplished and most ambitious people in my field.

But I turned it down. If my wife had taken a job in her field in that town, she would have seen her salary and benefits drop dramatically, thus diminishing many of the gains on my side of the family income equation.

If it weren't for HD, we likely would have made the move. However, my mother started showing symptoms of HD in her late 40s, and, as I am about to turn 50 very soon, I too could start losing my capacity to walk, talk, and think. We simply could not risk a situation in which my wife would have to support both me and our daughter on a severely reduced salary and with inadequate benefits.

My new companion

Since the inauguration of our family’s new pool in July, I have been swimming at least a few times per week for the first time in a many years. The pool has a Fastlane, which creates a powerful current, converting a small pool into a virtual lap pool. My wife and I researched the Fastlane very meticulously, as I wanted to use the pool as part of my program to attempt to prevent the onset of HD.

The Fastlane is my new companion in the fight against HD. Not only does it make exercise both highly challenging and convenient; I also get a psychological boost from the exercise and from knowing that I am doing something good for my body.

One of my heroes growing up was Mark Spitz, the winner of multiple gold medals as an Olympic swimmer. I remember him explaining once how he got through the long and difficult training sessions. He said that, as he swam, he would think of all of his old girlfriends.

When I’m out there with the Fastlane, I’m often thinking about the increased flow of blood and oxygen to my brain. I think about BDNF, brain-derived neurotrophic factor, a substance produced by exercise that is very good for the brain. Researchers, in fact, are looking for ways to increase BDNF in the brains of HD patients.

Turning point in the pool

On September 23 I took an especially vigorous swim. Like many people, I also use exercise as a moment to blow off steam or to mull over problems. On this day I thought through all of the many changes in my life resulting from the knowledge of my gene-positive status and my HDSA activism.

Then, as I increased my pace and moved ever closer to the Fastlane, it suddenly hit me that I had become a very different person. I had given over to my HD activism all of the ambition and energy that had once driven me professionally.

“You are no longer that professional,” I told myself several times as I worked against the current.

Coming to terms

After swimming, I wrote down some of my random feelings:

“We live in a society obsessed with success and celebrity. I’ve given up on success. I’ve undergone a career switch. My regular job is my paycheck. This is a process that I’ve been going through since I found out about Mom’s diagnosis for HD and especially after my positive test. Success is not money or fame or a career but a cure of the disease and living to a normal, healthy old age.

“I could get sanctimonious about success, but I won’t. Where would I be if HD had not hit me? I’d like to think that having a family and aging and maturing would make me more sensitive to these issues and also to other people and their issues. But I think HD has definitely played a role in this.”

A bit later I wrote an e-mail to one of the great friends I have made through the publication of this blog: “I just have to be careful not to let all of this HD advocacy work, blogging, HDSA volunteering, etc., consume me. It sometimes borders on an obsession, which is natural when you’re fighting for your life.”

Everything pales in comparison to HD

My dad, the Huntington’s disease warrior who cared for my mother for fifteen years until she died in February 2006, had died on September 25, two days after my revelatory swim. In the weeks leading up to his death and in the aftermath, I struggled with a hurricane of emotions involving his health, the strained relations with family members who are in denial about HD, and my deepening fears about the possible start of my own symptoms.

On October 6 – two days after we held a memorial service for my father – I added one more follow-up item to my swimming notes: “Everything except family pales in comparison to this battle against HD.”

An unenthusiastic interview

I’ve written this blog entry while riding home on a long flight back from another job interview. I applied for this job because it matched well with my qualifications and would offer the chance of another substantial raise. Obviously a part of me still strives for some professional achievement, although I had mixed feelings about making the trip, especially so soon after my father’s death.

As in 2007, it was exciting to meet new people in the profession, and it was deeply gratifying to see how excited they were to meet me and discuss my accomplishments. Nobody, however, had the slightest idea of how I spent so much of my time.

And, with my father’s death and the many preoccupations of recent weeks, I did not have time to prepare adequately. I did not perform as well as I could have.

My heart was not truly in the interview, and I knew it. We all frequently mask our true emotions with a smile, a gesture, or a comment. I have become an expert at this after keeping my gene-positive status secret for so long – precisely because I don’t want to jeopardize my professional opportunities.

I put on this performance once again during the interview, but this time it was not very easy. Perfectionist that I am, I became frustrated with the way the interview went. I was sad and exhausted at the end of the interview and simply stared out the window at the dreary fall evening as I rode to the airport.

Back home at Job One

After the 2007 offer, I decided that I would hunker down in San Diego for the long-term battle against HD. If I get an offer this time, I will certainly be tempted to take it, because it could be even better than what I was offered in 2007.

But we will once again face the same big question: will my wife’s less secure situation in a new job be good for the family as a whole if I become symptomatic?

Sadly, once again the best I may be able to do is use a potential offer as leverage for a counteroffer with my current employer.

When I get off the plane, it’ll be time to get back to Job One: remaining secure in my current job, staying healthy, dealing with the emotional fallout of my father’s death, loving my family, and keeping alive the flame of hope for treatments and a cure for Huntington’s disease.

An experiment and a death

On September 25, as I went through two different MRI machines and a battery of psychological tests aimed at detecting changes in my brain caused by Huntington’s disease, an e-mail arrived in my inbox informing me that my father had died.

This Huntington’s disease warrior, who lovingly cared for my mother for fifteen years before she died of the disease in 2006, gave up his last breath less than a week before his 82nd birthday and just two days before what would have been his and my mother’s 51st wedding anniversary.

That day and the hours since have been marked with all of the agony and irony flowing from my mother’s illness, my own gene-positive status for HD, and my extended family’s difficulties in facing up to HD’s hard reality.

The day of tests and experiments had exhausted me emotionally and, when I turned on my computer at home, the news of my father’s passing made me downright depressed and anxious.

Painful memories

My father started giving up on life about a year after my mother’s death, and after going into an assisted living facility a year ago, his mind and body steadily declined to where he had an apparent stroke in April. Several weeks ago he broke his leg. At the nursing home where he spent his final days he refused to eat and drank very little liquid. The aides had to use a lift to move him back and forth between his bed and a chair. He hardly spoke.

So his death was not surprising. In fact, I welcomed it as an end to his physical and emotional suffering.

But his demise reminded me poignantly of my mother’s own decline, and the circumstances of his death and its aftermath are like a knife in my heart.

The long string of events that led to my receiving the communication of my father’s death not from a concerned family member but objectively and coldly in a lawyer’s e-mail leads back primarily to Huntington’s disease.

HD and family disputes

A year ago I wrote about how my sister and her family and also my mother’s brother and his family remain in deep denial about Huntington’s (click here to read more). My mother’s condition, my insistence on optimal care for her, my activism in the Huntington’s Disease Society of America, and my gene-positive status all made them deeply uncomfortable and angry.

Over the years my sister has gone back on a promise of lodging at her home when I went to visit her and my parents back in the Midwest, angrily hung up the phone on several occasions, and refused to see me or simply ignored me when I was in town.

Last year she ignored several phone messages about my father, then strangely called to holler at me. “I can’t talk to you!” she said in an exasperated and definitive tone and then hung up yet again.

Her strange behavior reminded me of my mother’s outbursts during the early stages of Huntington’s. She is untested, as are her three grown sons. To my knowledge she and her family have never had a conversation about HD.

Growing anger

Whether she has HD or not, I had to find a way to help my father get placed in a proper facility. At one point, if I had not intervened in the absence of initiative from my sister, the local adult protective services agency would have simply taken my dad away without any input from the family.

So now I asked my father’s lawyer to assist her in finding a facility. Because of her inability to communicate with me and her husband’s and oldest son's use of vulgar language when I tried to reason with them, I also asked the lawyer to serve as an intermediary.

My anger over the past year has grown. When I visited my father in March, I did not see my sister.

After my sister did not instruct the lawyer to call me about my father’s death, I became deeply upset.

An inexcusable lack of compassion

A couple hours after I opened the e-mail, my father’s sister called to talk about my dad. Then she dropped a bombshell: the wake would be in less than 48 hours and the funeral in less than 72. The obituary, the destination of donations, the Mass, the burial – my sister decided everything without any concern about my wishes, without any message to the lawyer or any relative.

This was the polar opposite of the situation after my mother’s death, when the funeral home held the body several days so that my family and I could buy tickets and make other arrangements in preparation for the cross-country flight. Back then my sister and I were talking, because, during a previous visit back home, I had called her to insist that we work together to find a nursing home for my mother.

After my father’s death I wanted to call the funeral home and the church to postpone things, but my wife pointed out that my sister would never agree. The situation would become only worse. We agreed that it was a bad idea to attend the funeral.

I asked the lawyer to transmit a brief message to my sister, in which I stated, “Your attitude and actions are insulting and inexcusable. You lack compassion.”

A California dreamer

At the time of the wake, I took my dog for a long walk and reflected on my father’s life and his meaning to me.

His heart was always in California. He had actually moved the family here for a couple of weeks in July 1966, but then rushed us back to the Midwest because he was homesick. He loved visiting us here and always spoke longingly of California as a kind of paradise, especially during the long and harsh Midwestern winters.

My sister had his body, but I had his spirit, I told a friend. It’s as if he’s hovering above me as I enjoy the hot weather of the first days of the Southern California fall.

The past few days I have been going through slides that he took over the years. The California trips figure prominently in the collection. I recalled with my wife how we had tried to convince him to move out here with my mom in the late 1990s, before the housing bubble, in part so that we could arrange for better care for her. He became very excited but ultimately got scared of too much change in his life, even if that change was for the better.

A senseless, painful rift

Going through those slides and also pictures from my own collection, I also reflected a lot on my relationship with my sister. I found several images where I am having a rollickingly great time with her sons, with her and her husband looking on. One photo was from New Year’s Eve in 1989, when I babysat the three of them so that she and her husband could attend a party.

I remembered long and meaningful conversations we had in her home. In fact, my parents used to get angry and jealous because I would spend more time at her house than at theirs.

Then, about five or six years ago, in the midst of our family’s increasing difficulties with my mother’s condition, my sister told me on the phone, “You’re not really a brother.”

How, I asked myself, could this senseless, painful rift occur?

How could I be denied a part in my own father’s funeral?

Touching raw nerves

Undoubtedly part of the cause lays in differences in personality and life experience, but these are things that all families experience. Exploring them all would require a book.

Although my sister clearly lacks sensitivity, it only really became noticeable after Huntington’s disease appeared in our family.

Fear of HD brought out the most boorish, most ignorant kinds of behavior that I could imagine.

It also touched some very raw nerves.

My sister, who had wanted a daughter, became resentful and angry when my wife and I had ours. Most important, our child was free of HD, because we had her tested in the womb.

I became the family expert on HD and urged my father and my sister to take measures to help my mother, but my sister and her family always saw my efforts to help my parents as an intrusion that upset their comfortable cocoon of denial.

The impetus for a cure

While the final social consequence of HD for my sister is to sever all familial ties, I forged ahead in helping the effort to find a cure.

As I wrote in two previous entries (click here to read more, and also here), finding the cure means affected and gene-positive individuals need to participate in experiments.

CHDI Foundation, Inc., the world’s biggest organization aimed at finding treatments and a cure for HD, is studying the progression of the disease in the brains of non-symptomatic gene-positive individuals like me. We are crucial in this experiment, because symptomatic individuals, who have chorea (uncontrollable movements), would move during the scans and therefore compromise the images. In fact, in the first scan the researcher, psychology Ph.D. student Ian Greenhouse, placed my head in a head clamp to prevent even the slightest movement.

Ian Greenhouse explains the use of the structural MRI machine in the experiment (photo by Gene Veritas).


The researchers hope to discover if it’s possible to use MRI scans to observe what happens in the earliest stages of the disease, said Ian, who previously worked at Harvard University and helped to establish an MRI center at the University of California, San Francisco. He now works in a cognitive neuroscience laboratory at the University of California, San Diego (UCSD). These early signals, he explained, could help predict when and how a patient would develop more serious symptoms. This data could help in the development and administration of drugs.

Last year I volunteered to take part in the experiment at its UCSD site, one of several CHDI is using. On September 25 I returned for the one-year follow-up, which was necessary to trace the changes in the brain that may have occurred. In addition to the scans, I performed a battery of cognitive tests, answered a questionnaire about my health and Huntington’s disease in my family, took a mood test, and gave blood. Some of this data will go to COHORT, the Cooperative Huntington’s Observational Research Trial sponsored by the international Huntington Study Group.

UCSD researcher Melissa Generoso displays one of the cognitive tests I performed (photo by Gene Veritas).

Predicting the weather

The first scan, done in a structural MRI machine, included two parts: an anatomical scan and diffusion tensor imaging (DTI). The anatomical scan measured the amount of gray and white matter across my brain as well as cerebral spinal fluid. The DTI measured the strength of connectivity between different areas of the brain.

Afterwards Ian showed me my brain on computer – the brain I inherited from my HD-stricken mother and my father, the tireless, dedicated Huntington’s warrior. Ian and the other researchers aren’t allowed to comment to test subjects on what they see in the scans, and I wasn’t really interested in hearing if my brain had been damaged.

In the second, functional MRI machine I performed two experiments, both while holding a control box with two buttons. In the first experiment, the weather prediction paradigm, I had to determine whether it would be rainy or sunny based on symbols flashed on a screen. After I pressed one of the buttons, the program revealed the correct response. The symbols themselves – for example, a rectangle – did not signify anything about the weather, so I had to make my predictions based on trial and error.

The research team adopted the weather game because of the success scientists achieved with it in Parkinson’s disease patients, explained Sarah Sheldon, the coordinator of the CHDI-UCSD project and a research associate who performed the second set of scans on my brain. In the Parkinson’s experiment, researchers compared their ability to predict the weather to that of amnesia patients. The amnesia patients learned well, because the part of the brain used for this procedural learning was independent of conscious memory, Sarah said. But, even though they had their full memories, the Parkinson’s patients had difficulties predicting.

For this task, the area of the brain affected in Parkinson’s, the frontal striatal basal neural circuitry, is the same as in HD, Sarah explained.

Sarah Sheldon, coordinator of the MRI research project, stands at the entrance to the UCSD center where she ran one of my brain scans (photo by Gene Veritas).


Threats to white and gray matter

In the second functional MRI experiment I had to press the left or right button according to the indication flashed on the screen. Sarah instructed me to respond as quickly as possible. If, however, I heard a beep, I was supposed to do nothing. The beeps came almost immediately after the visual signal. I had to comply with two imperatives: quickness of hand but also in the ability to hold back. Sarah called the latter “stop signal reaction time.”

With this experiment, which is also used to assess people with brain lesions and attention deficit hyperactivity disorder, researchers hope to gain a better understanding of chorea. Chorea, of course, prevents people from inhibiting their movements, so people who are losing that ability would do poorly in the experiment.

According to Sarah, to date the researchers have observed that the HD test subjects’ white matter (the filaments of the brain’s network) is deteriorating more quickly than the gray matter (the cells). Thus they are hypothesizing that the network starts to go down first, later leading to the destruction of the structure, the cells.

Sarah noted, however, that the conclusions are only preliminary, as they still need to evaluate the rest of the data, including the information from the cognitive and mood tests and questionnaires.

A very long day

The stress of being reminded so extensively about my gene-positive status – as well as the exhilaration of assisting with critical research and meeting the young scientists who carry it out – caused me to want to tune out at the end of the day, especially because it was a Friday.

Little did I expect that my routine check of e-mail at the end of the afternoon would bring the devastating news of my father’s death.

With all the anxiety in my life, my wife and I agreed that trying to confront my sister about his funeral or even simply attending it in such horrible circumstances was not worth the risk of greater emotional trauma. We both recalled how my father had suffered a heart attack at the age of 53 and how heart problems afflicted many other members of my family.

My father’s son

Then my wife had a brilliant idea: we would hold our own memorial service on Sunday, October 4, at our home. This would afford me the opportunity to grieve with our closest friends and my cousin and her family, who live in Los Angeles.

Planning the memorial, including the preparation of a photo presentation spanning my father’s adult years, took practically all of my energies this past week. I have privately mourned, and I have quietly processed the meaning of his life for me and the monumental impact of Huntington’s disease on our family.

The sadness is profound, a heartache that will never disappear. However, we will not focus on our loss, but celebrate what he gave to me and the world.

I am my father’s son, and my dedication to the HD movement is ultimately a result of the life path he prepared for me. And the strength and courage I need to persevere will also well up in me because of the example he set in caring for my mother.