Speaking out about living in silence with an incurable disease

08/03/2014 12:00 AM

08/03/2014 12:26 AM

On Christmas Eve of 2010, my brother Jim died of Huntington’s disease. At the time, his diagnosis was a secret. Most people believed he had succumbed to advanced colon cancer, after suddenly being admitted to the hospital that November and undergoing emergency surgery.

I knew differently. I was one of few people who did.

Four years later, some of my loved ones still don’t apprehend that Jim had Huntington’s or their own terrible risk. Four years later, I continue to be shocked and unmoored by the stigma gripping this fatal neurodegenerative disease. For reasons that will become clear, I also continue to be wary of revealing my own experience.

What is Huntington’s? That’s the first question people invariably ask me when they hear about my brother. If they’re older than 60, they might vaguely link the disorder to Woody Guthrie and the disease that killed the iconic folk singer. But even then, they can’t conjure what Huntington’s disease is.

When I first heard the words “Huntington’s disease,” uttered in the drab chapel of the hospital where my brother was dying, I couldn’t either. And here is the irony: For years I’d been a journalist covering health and medicine. I had written about various iterations of brain tumors. I had written about the elegance of genetics. I had written about my mother’s brutal epilepsy. I had pored over research studies and medical journals.

And yet even I was unaware of this deadly inherited brain disorder. It’s no mystery. Huntington’s is considered rare. It afflicts some 30,000 Americans and at least 250,000 are at risk of developing the disease.

Still, the numbers are uncertain, and undoubtedly low. No one really knows how pervasive Huntington’s disease is in the United States because of incomplete reporting. In a 2013 study in the United Kingdom, a team of scientists led by Dr. Michael D. Rawlins of University College London found the prevalence in adults diagnosed with Huntington’s disease to be twice what was previously reported.

There’s also the matter of linguistics. Until recently, when the cognitive and psychiatric aspects of Huntington’s disease became folded into the diagnosis, the disease was known as Huntington’s chorea, the Greek word for dance – a curiously poetic way to describe its scary, out-of-control body movements. As a result, many doctors don’t realize it when they encounter Huntington’s disease.

Knowing its prevalence is important for one reason: Without it, how can you deliver the medical care and social services Huntington’s patients need?

When people ask me to explain Huntington’s now, I say it’s a little like a stew of Alzheimer’s, Parkinson’s and ALS, although not everyone has the same debilitating symptoms.

Huntington’s is caused by a single mutant gene. If you have a parent with Huntington’s disease, you have a 50 percent chance of inheriting the lethal gene. There are exceptions. In a small percentage of cases like ours, there is no family history. The gene burst out of nowhere.

This forced me to consider a terrifying question: Should I get tested for Huntington’s, even though I didn’t have symptoms? If I carried the gene, my children could carry it, too.

Huntington’s disease is especially cruel because it fells people in the prime of life, when they’re working and raising families. Because the disease is progressive, the symptoms worsen over time. Eventually, you die. My brother was only 58.

Although a genetic test for Huntington’s has been available since 1993, the year the gene was discovered by a team of international scientists led by Dr. Nancy Wexler, a professor of neuropsychology at Columbia University, there are still no treatments to slow or ease the horrific effects of the disease. There is no cure.

This explains why people with Huntington’s disease often hide it. As Wexler, who herself is at risk of Huntington’s disease but has never said whether she’s been tested, told author Stephen Dubner in a 2013 interview on Freakonomics Radio, “The reality of our country is that if a person is known to have even a risk for genetic disease for HD, they quickly become an uninsurable person. If they have a job, if it’s a job that requires education or even dexterity or skill, you could lose your job. GINA, the Genetic Information Nondiscrimination Act, is supposed to protect you against that, but you have to prove that it was HD that caused you to lose your job.”

Denial works wonders, too. When my brother was sick, I often asked him if he was seeing a neurologist. He’d gently brush me off and say he was “fine.” My brother was a cosmetic dentist. He adored his work. I remember once visiting him at his office, the stunning Rocky Mountains rising outside. He pulled out a photo album. It was filled with before and after pictures of his patients, the surgery he’d done to restore their jaws and mouths and smiles. He knew he was sick. But he couldn’t face it.

For years I watched as the disease stole over him. I thought his strange ideas, his crazy body movements, his flashes of anger and depression, were the result of a brain injury he’d suffered in a snowboarding accident. I now realize the snowboarding accident was the result of Huntington’s disease.

My brother lost everything. His practice, his marriage, his bright mind and sunny personality. By the end, he was unable to talk or hold the phone or brush his teeth. When he died, he didn’t have health insurance. His plight is not unusual.

In Huntington’s, many families, because of their inability to work, mounting medical bills, their need to provide constant care for sick loved ones, lose everything.

The scientists I’ve met, like Dr. Jan Nolta, director of the Stem Cell Program at the School of Medicine at UC Davis, are determined to find treatments for Huntington’s disease. The families rocked by this unbearably cruel disease are determined, too.

I recently attended a conference held by a grass-roots organization called Help4HD International. The group was founded by a mom from Santa Maria, Melissa Biliardi, after her son was diagnosed with Huntington’s in 2008. Their mission is to educate the world about Huntington’s disease. That’s where I met Nolta, along with a half dozen other prominent scientists who had come to speak to families, patients, caregivers and health professionals about their research and a promising clinical trial.

I should tell you now that I don’t have Huntington’s. That makes me different. But it also doesn’t. Every day I think of Jim and his suffering. The one thing I can do to honor him and others living in silence with this dreadful, incurable disease is to speak out.

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