An Uncertain Journey Along the Genetic Trail

By Martha Nance
Sunday, September 25, 2005

There is, unfortunately, a painful lag between scientific knowledge and its benefits. As an expert in Huntington's disease, a degenerative neurological condition, I am keenly aware of this. We know how people get this disease, and there's been an explosion of new information about it, but we still don't know enough to treat or cure it.

Huntington's is caused by a genetic abnormality, one that is easy to test for. And if you inherit it from one of your parents, you will, if you live long enough, eventually develop the symptoms, which can include dementia, depression, involuntary movements and lack of coordination.

This knowledge about one's fate is not unique to the 30,000 sufferers of Huntington's. As genes relating to Alzheimer's and Parkinson's disease and breast cancer and many other medical conditions are uncovered, there is an increasing ability to look into the crystal ball and see which of your parents' fates might be yours. It may seem somewhat distant when it is a disease unfamiliar to you, but it hits you between the eyes when it involves your family or friends.

That came home to me recently when I received a note from a college friend. I hadn't been in touch with him since we'd graduated. He read about me in a publication of the Huntington's Disease Society of America (HDSA) and he sent me his story. He did not know whether I would remember him or what I would think of his plight. His only hope was that I would recognize his ordeal and find some way to help. And I was distant enough not to compromise his desire to remain anonymous; the stigma associated with Huntington's can harm a person's career and relationships, not to mention the ability to get health insurance. He said he felt he was leading "a double life" between his outwardly serene routine and his inner struggle. He called his account "Looking Into the Genetic Mirror," which he was willing to let me quote at length.

"My future began to slip away the day after Christmas 1995, when I received the jolting news that my mother had tested positive for Huntington's disease (HD). Finally I understood her shaking limbs and increasingly angry, childlike manner," he wrote.

He had a good understanding of the medical implications for himself. "I had a 50-50 chance of inheriting HD," he continued. "If I did inherit it, there was no escape, as HD afflicts all carriers of the abnormal gene. Symptoms usually strike in a person's prime, between 30 and 50. There is no cure, nor effective treatment. I was 36, and I could pass HD on to the children my wife and I hoped for.

"I wanted to get tested immediately to find out whether or not I carried the abnormal gene, but local HDSA support group members warned that at-risk individuals had lost their jobs and could not buy health or life insurance. All our dreams went on hold. That night, as fear overwhelmed me, my wife held me tight.

"Each encounter with my mom became a view into a nightmarish genetic mirror. I watched her body jerk, head bob, and fingers fret. One night I found her wandering around our house confused and half naked. Within a year she lost most of her capacity to speak. She ate clumsily with her hands.

"With my wife pressing me to start a family, in mid-1999 I discovered my genetic fate through an anonymous testing program. The doctor's words echo: 'You have your mother's gene for HD.' Stunned, I fell into a fog of acceptance, denial, and defiance.

"The next look into the mirror was even more excruciating, because my wife became pregnant. For four months we waited to find out the genetic truth about the new life growing in her womb. Daily we debated whether she could care for two HD people while working. We pondered an abortion. But the anguish gave way to our most joyous moment: our 'miracle baby' -- now 5 -- was free of the HD gene.

"Yet the mirror looms. My mom, today 68 and wheelchair-bound, cannot hug her granddaughter. When I call my parents, she just listens and barely ekes out 'I love you.' Because of her incontinence, my parents can no longer make the trip to visit us. Imagining herself pregnant, one day my mother took her feces to my dad and said she had given birth. In August, he finally had to put her in a nursing home. Death draws near as she loses her ability to swallow.

"Now 45, I agonize as I approach her age of onset. We put off having a second child and save to pay off our mortgage faster, preparing for the day when I will become disabled. I panic when I think of losing the ability to pursue my greatest passions, reading and writing. Will I see my daughter fall in love and go to college?


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