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.)

The best Christmas gift of all

This week I received the best Christmas gift of all: a clean bill of health during my annual visit to the local Huntington’s disease clinic.

I tested positive for the HD gene in 1999, and my mother died of the disease in early 2006 at the age of 68. I don’t know exactly when her symptoms began, but, as I look back, it seems that classic early signs such as mood swings and depression began in her late 40s.

I turn 51 on December 31, and I’m getting closer to the point at which my mother started having chorea, or the trembling of the limbs, one of the major symptoms of Huntington’s.

In order to monitor my health and strategize on ways to avoid onset of the disease, each year I undergo an examination at the Huntington’s Disease Society of America’s Center of Excellence for Family Services and Research at the University of California, San Diego. On December 14, I went through an intensive, two-hour battery of cognitive testing at the center. This past Tuesday, December 21, I was examined by one of the center’s physicians.

He found no evidence of chorea, and he informed me that my 2010 cognitive results matched the 2009 tests.

So I remain stable!

Bonus time

I felt enormously relieved.

The visits are extremely stressful, because there are no treatments for the root causes of HD. Symptoms eventually appear in all gene-positive individuals.

Onset would mean that I would begin a steady decline towards death. My mother’s symptoms got steadily worse. During the 15 years (or more) of the disease, she lost the ability to walk, talk, think, and swallow. She was only a faint shadow of herself when she died in a nursing home.

So I realized once again that every extra moment of good health is a bonus.

A winning team

The doctor recommended that I maintain my routine.

Since 2004 I have taken the main supplements recommended by the Huntington’s Disease Drug Works (HDDW) program: trehalose, creatine, coenzyme Q-10, omega-3 fish oil pills, and blueberry concentrate pills. Although there is some evidence suggesting these substances could affect HD, at this point there’s no way to prove that they have actually helped me.

But, the doctor said, they might be helping me to remain stable.

HDDW used to cover the cost of the supplements but is no longer doing so. I will have to shell out two or three thousand dollars annually to pay for them. Because they’re not officially approved remedies, insurance won’t cover them.

Nevertheless, the doctor said the cost is justified.

I agree. There’s a saying I learned in following Brazilian soccer: you don’t mess with a winning team.

In my case, the team includes far more than the supplements: pills to avoid depression and anxiety, psychotherapy, exercise, dedication to my family, the nurturing of my faith and spirituality, and sharing my journey as an HD-positive person through this blog.

The need for hope

In writing this, I must admit that part of me feels enormously guilty.

So many others in the HD community already experience terrible symptoms. Young, at-risk people struggle with the news of their parents’ diagnoses and decisions about genetic testing, and newly tested individuals who are gene-positive suddenly fear a dark future.

Will my desire to celebrate a symptom-free Christmas and New Year’s Eve make others in the community feel even more frustrated with their helpless predicaments?

Probably not. People in our community are generally very understanding and sympathetic with a whole range of situations. But I feel so badly for others – and want even more badly for a cure to come soon.

We in the HD community we all need hope – especially at this time of year.

I may never know why in the year 2010 I did not have symptoms. In 2011 they very well could start.

But my lack of symptoms could very well serve as a piece of evidence in the mystery of HD and the search for treatments and a cure. That, after all, is a big reason why the results of my cognitive testing go to the researchers.

And I want to help others.

A gift of health and time

On the brighter side, my current state of stable health will permit me to continue the fight for greater awareness about Huntington’s disease and the quest to end it.

As I noted in my previous entry, on February 7, 2011, I will represent the HD community as I give the keynote speech before scores of scientists at the “Super Bowl” of Huntington’s research.

More than ever before, I’ll be putting myself in the public eye and calling fervently for a cure.

Thanks to this year’s best Christmas present of all, I can carry out that mission with a strong and clear voice.