Waiting for symptoms: How long can I hang on?

As someone who is gene-positive for Huntington’s disease, I live in an uncharted gray zone as I await the onset of the same kind of devastating symptoms that took my mother’s life in 2006.

My gray zone had a precise beginning: on June 7, 1999, I received the results of my genetic test, which showed that I had inherited the abnormal HD gene from my mother.

However, I don’t know the point where the gray zone ends and a much darker fate awaits. Although the onset of this 100% genetic condition is inevitable, its exact timing and manner are not precisely predictable.

So I play the terrible “waiting game,” wondering and worrying about onset and the impact it will have on my job, my family, and my health.

Increasingly, I ask myself the question: “How long can I hang on?”

So far, no classic symptoms

My mother’s initial, psychiatric symptoms, such as emotional upset, probably started in her late forties. By the age of 55, and most likely earlier, she had chorea, the shaking and trembling movements typical of this brain disorder, in her case first evident in her legs while lying in bed at night, then affecting her hands and head. Ultimately, HD destroyed her ability to walk, talk, and think.

At the end of this year I will turn 52. All of the research on HD suggests that by now, based on the averages, I should be having symptoms.

Scientists have demonstrated that “premanifest” HD people like me suffer harmful changes in the brain ten or even more years before the start of the classic, easily observable symptoms. HD is likely attacking my brain cells already, perhaps causing subtle changes in my sense of smell or eyesight.

However, as of my last HD checkup in December 2010, I displayed none of the classic effects. As far as I can tell, I continue to live like any “normal,” healthy person.

Strategies for health

Over the years, I’ve been asked the question of how I have avoided onset. I’ve referred to a number of strategies in this past posts (for example, click here).

In brief, I exercise at least 30 minutes per day, eat a proper diet, cultivate my mind through my work as a college professor and activist for the Huntington’s Disease Society of America, consult a psychotherapist, and take medications that combat depression and anxiety and protect my brain.

I take the basic supplements – though their efficacy is still under study – recommended by the Huntington’s Disease Drug Works program: creatine, coenzyme Q-10, trehalose (a sugar), blueberry extract pills, and omega-3 fish oil pills.

I also keep in touch with a network of friends and supporters and dedicate myself to my wife and 11-year-old, HD-free daughter. I strive to deal with stress positively, and to deepen my spirituality.

Writing for this blog provides an outlet for my deepest fears and connects me to my brothers and sisters in the HD community.

A lucky man

I can’t prove that any of these strategies has actually prevented onset. It’s possible that other factors such as an undiscovered modifier gene (a gene influencing the time and manner of onset) might also be keeping me symptom-free.

But I know that none of my strategies is causing harm. For example, I undergo periodic blood tests to verify that the large amount of creatine I ingest is not harming my liver or kidneys.

A lot of what I do (or don’t do, such as heavy drinking) belongs to many healthy people’s recipe for a happy and stable life.

Whatever the reason for my delayed onset, I consider myself EXTREMELY LUCKY.

That feeling is particularly acute when I’m reminded of people my age or even younger who already have full-blown symptoms.

A ‘mild’ case?

I’ve received several messages of encouragement from readers of this blog, basically along the following lines.

You won’t get HD until you’re in your sixties.

You’ll only get a mild case of HD.

You’ll have the disease, but be able to function almost normally.

You’ll live with the disease until you’re 80 (unlike my mother, who died at 68).

I often think of my HD friend Julie, in her sixties, who’s lived with HD symptoms for a number of years but can still write eloquently and speak to me on the phone.

“You need to be like Julie,” my wife tells me with hope and conviction.

But I also know that HD could attack forcefully, turning me into a mere shadow of myself and leaving me completely dependent on my wife, daughter, and others for the most basic of necessities.

As my wife pointed out not long ago, a man’s fifties seem to carry the greatest risks for his health. (My father, for instance, suffered a heart attack at the age of 54.) I feel that if I can get to sixty with few or no symptoms, I might indeed get only a mild case of HD. And, by then, treatments should be available.

A precious gift

Each moment without HD symptoms is a precious gift.

A gift that allows me to help coach my daughter’s soccer team.

A gift that lets me to enjoy a movie or a good book.

A gift that allows me to invite my wife out to dinner and afterwards take her on a relaxing drive.

A gift that gives me the time to prepare for the future and be thankful for all that I have.

And then I worry: what will the doctor say in a couple months after my next HD annual checkup?

I am hanging on. For how long, I don’t know. But while I am, I intend to make every moment count.

That’s when I recognize another facet of the gift: the opportunity to help other HD families in need and join with them and researchers in the search for treatments and a cure.

(For the latest on HD research in the wake of the 2011 World Congress on Huntington’s disease, please visit www.HDBuzz.net.)

One Man's Story: Entering the Light

(At the invitation of the Huntington’s Disease Society of America [HDSA], I wrote this article for the September 2011 issue of the HDSA support group newsletter We Are HDSA!)

By Gene Veritas, author of At Risk for Huntington’s Disease and recipient of the 2011 HDSA Person of the Year award

As a severely disabling and fatal brain disorder, Huntington’s disease carries a deep stigma that often leads individuals and even entire families to hide the truth about their situation.

In learning of my mother’s diagnosis of HD on the day after Christmas of 1995, I wanted to get tested immediately. However, my mother’s geneticist and the president of the local HDSA chapter warned me against rushing into a test. They pointed out that gene-positive individuals sometimes faced discrimination from employers and insurance companies. So I postponed testing, and I kept my at-risk status private.

I thus entered the “HD closet,” a terrible and lonely place where I struggled with the wrenching fears of HD as I watched my mother decline.

In June 1999, I tested positive for HD. That life-jolting event caused me to retreat even deeper into the closet.

I lived in the grips of a massive contradiction: activism for HDSA and the need to shield myself from discrimination.

Enthusiastically, but anonymously, I served on the board of the San Diego Chapter of HDSA from April 1998 to October 2010.

In 2005 I started the blog At Risk for Huntington’s Disease. To protect my identity, I adopted the pseudonym “Gene Veritas,” the “truth in my genes.” Since then I have written regularly about the many challenges of HD – including the deeply frustrating experience of the HD closet.

But I knew that, if I wanted to truly defeat stigma, I someday would have to exit the closet.

Thanks to a combination of factors, in 2010 I began giving public speeches about my situation, using my real name.

Now in my fifties, I feel I have sufficient gravitas to negotiate the inevitable complications, including discrimination. Crucially, two pieces of federal legislation have given me and other gene-positive people support: the Genetic Information Nondiscrimination Act (GINA) of 2008, which bars certain kinds of discrimination, and the 2010 health-care reform law (the Patient Protection and Affordable Care Act), which, in 2014, will prohibit denial of coverage to people with pre-existing conditions.

Most importantly, HD researchers are making great progress, giving me the confidence that an eventual treatment or cure would end the HD closet forever.

From the scientists, I have begun learning that the closet poses a huge obstacle to their work. Without the active participation of our community in clinical trials and other experiments, the researchers cannot test potential treatments for safety and efficacy.

In my new role as a public advocate and as the 2011 "HDSA Person of the Year," I urge everybody in our community to get involved, summoning up the courage we know we possess to exit the terrible and lonely HD closet.

You can make a difference in many ways: by attending the local HD support group, volunteering for your local chapter or affiliate, and joining in HDSA’s advocacy and fundraising efforts. I also sincerely believe that if you are at risk, you should seriously consider the possibility of genetic testing.

You can also contact your local HDSA chapter or Center of Excellence to learn more about observational and clinical trials.

Above all, as we exit the HD closet hand in hand, it’s time to tell a friend or relative about Huntington’s disease and how it affects your family’s life. Your personal testimony provides the most effective way to fight stigma, inspire others to join the cause, and build awareness about the need to defeat HD.