Fear of onset: the inescapable reality of the Huntington’s disease gene carrier

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Schermata 2014-06-18 alle 20.56.00

As a carrier of the devastating and ultimately deadly genetic mutation for Huntington’s disease, I have worked hard to live as normally as possible. This blog is replete with examples of coping strategies and ways in which I have strived to balance work, leisure, family, and HD advocacy.

 
At 54, my HD-stricken mother was rapidly declining, heading towards a troubling and terrible death at the age of 68. Today, at 54, I continue to enjoy the gift of good health – the major reason I can often feel “normal.”Scientists are searching to discover the reasons for the wide variability in the age of onset observed in people, like my mother and me, who have the same level of mutation.
 
Yet my fear of onset often creeps back in.
 
Recalling a time of innocence
 
The past few weeks I’ve been so busy with the “normal” that I’ve had no time to write in this blog.
 
At work, I’m transitioning from five-and-a-half years as departmental chair to a year-long sabbatical, during which I aim to write a long-gestating book on the history of former Brazilian radicals now in positions of power. I’m also teaching an intensive, three-week summer session course on the history of Mexico. The next year promises to be an engaging, challenging time.
 
The transition has required an understandably disruptive move to a new office, but also allowed me to dispose of unneeded books and papers.
 
As I rummaged through old files and letters, I found myself reminiscing about the seemingly innocent period of my life before Huntington’s struck my mother.
 
It would be great, I thought, not to have to worry about onset. Without the threat of HD, which led me to expand my scholarly endeavors into the history of science, technology, and medicine, I could once again focus exclusively on the history of Brazil.
 
Watching for early symptoms
 
I’m also working out the logistics for my upcoming trip to the University of Iowa in Iowa City for my follow-up participation in PREDICT-HD.
 
An “observational study of the earliest signs of Huntington’s disease,” PREDICT-HD has aimed at creating key standards for predicting onset and measuring the rate of disease progression.
 
I’ll be staring onset in the face – and wondering about my performance on the battery of tests.
 
A visit to Auspex
 
I discussed my fear of onset and reiterated our community’s urgent need for effective treatments in an intense, 80-minute get-acquainted conversation last week with Pratik Shah, Ph.D., the president and CEO of Auspex Pharmaceuticals.
 
An investor-funded San Diego firm focused exclusively on central nervous system disorders and orphan diseases, Auspex struck me as made-to-order for the fight against HD. It is currently conducting clinical trials for a drug called SD-809, aimed at treating chorea, the involuntary abnormal movements produced by HD.
 
SD-809 (dutetrabenazine) is a potentially improved version of tetrabenazine, a chorea treatment currently marketed by the pharmaceutical company Lundbeck under the name Xenazine. If SD-809 works as intended, it will require fewer dosages and produce fewer side effects than tetrabenazine.
 
However, tetrabenazine does not affect the root causes of HD, nor is SD-809 expected to.
 
Auspex seeks to use SD-809 as a platform to research and develop drugs that would attack those causes.
 
Dr. Shah and I agreed to schedule soon an interview so that I can write an in-depth article on Auspex’s efforts.
 
I told Dr. Shah about a middle-aged, HD-afflicted man I had met who had maintained much of his cognitive abilities but suffered from strong chorea. However, tetrabenazine controlled the chorea, enabling him to keep driving, something most HD patients have to give up.
 
Tetrabenazine’s approval by the Food and Drug Administration had come too late to benefit my mother, who died of HD in 2006. I told Dr. Shah that she had taken another medication to control her chorea, which was relatively mild, although she had initially had strong chorea in her legs at night. In general, chorea was the least of my mother’s problems with HD, which devastated her cognitive abilities and caused serious psychiatric difficulties.
 
I also related my recent conversation with a former HD support group colleague who has had symptoms for a number of years.
 
Speaking to a symptomatic individual, I pointed out, provides me a terrifying glimpse of my own future.
 
 
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