I’m a Huntington’s disease gene carrier at age 60, so why haven’t I developed symptoms yet?

Huntington’s disease struck my mother in her late 40s, turned her into a debilitated, mere shadow of herself by her late 50s, and took her life at 68. I inherited from her the same degree of genetic mutation. Last December, I turned 60. So, doomed to suffer this inevitable and untreatable disease, why don’t I have any apparent symptoms yet?

Of course, I am thrilled to have avoided the dreadful scenario I imagined for myself after my mother’s diagnosis in 1995 and my positive test for the mutated, expanded gene in 1999. I did not believe that, by age 60, I would still be able to work, write, and not become a burden for my family. Indeed, in January, I marked fifteen years as a Huntington’s disease blogger.

I have written about my broad range of strategies for keeping healthy, including swimmingneurobics  (exercising the brain) and blogging, and taking supplements, some of which were ultimately proved ineffective. I stretch daily to keep limber, and I eat a healthy diet (no alcohol, sodas, or red meat; minimal processed foods; and lots of fish and fresh fruits, vegetables, and salads). I also consult a psychotherapist, meditate, and practice spirituality.

I also have the benefit of a stable, solid-paying job and a close relationship with my wife and daughter. I cannot be sure whether any of these things help avoid HD, but they generally bolster health.

As Robert Pacifici, Ph.D., the chief scientific officer for the nonprofit, HD-focused CHDI Foundation, Inc., pointed out in a major interview last year, “lifestyle” is potentially very important. Evidence from at least one animal study suggests this, he said, although no scientific data yet prove this for HD in humans (click here to read more).

However, extensive, pathbreaking research based on humans has provided a new understanding of the genetics of Huntington’s and why people with the same size of gene mutation – the same CAG count, as explained below – can experience widely different ages of onset. A Huntington’s Disease Society of America (HDSA) webinar, presented by James Gusella, Ph.D., on November 19, 2019, explained the main points of this research and its relevance for HD families.

“You can relatively easily find people who’ve developed symptoms maybe 20 or more years later than you’d expect from the average, or 20 or more years earlier than you’d expect, and you can find people all along that range,” said Dr. Gusella, who titled his presentation “New Insights on Huntington’s Disease Age of Onset from Genetic Studies of HD Families.”

Dr. Gusella is the Bullard Professor of Neurogenetics at Harvard Medical School and the director of the Center for Human Genetic Research at Massachusetts General Hospital. He helped lead the efforts that narrowed the search for the huntingtin gene to chromosome 4 in 1983 and the discovery of the gene in 1993 (click here to read more). Since then, he and his collaborators have continued to make important discoveries about HD.


Source: At Risk for Huntington’s Disease

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