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.