This month I am celebrating the 20 years of this blog.
I began At Risk for Huntington’s Disease on January 10, 2005, wanting to “squeeze as much life into my days as possible” before experiencing the debilitating HD symptoms that led to my mother’s death a year later. Because I lived in what I called the “terrible and lonely HD closet” – fearful of genetic discrimination – I used the pseudonym “Gene Veritas,” “the truth in my genes.” That name reflected the fact that I had tested positive for the HD gene in 1999.
My mother died at 68, after two decades of debilitating symptoms, which was very painful to watch.
I turned 65 last month. By this age, I had expected to have full-blown HD, which would have left me unable to work, drive, or write.
But, according to my latest neurological checkup, I don’t yet have apparent HD symptoms!
In general, the more abnormal the gene, the earlier the age of disease onset. My mother and I have the same gene mutation, suggesting a similar disease path. However, although my mother’s symptoms started in her late 40s, one or more modifier genes, the functions of which were discovered a decade ago, have perhaps delayed my disease onset.
This article is number 336. Each day of good health is a blessing.
Gene Veritas (aka Kenneth P. Serbin) with his blog (photo by Regina Serbin)
The impact
In 2012, I exited the HD closet by publishing an essay – and using my real name, Kenneth P. Serbin – in The Chronicle of Higher Education. It was titled “Racing Against the Genetic Clock.” Going public opened new vistas of advocacy and enabled me to blog with greater transparency.
In December 2022. I published a detailed analysis of the blog in “Striving for a Realistic and Unapologetic View of Huntington’s Disease” in the Journal of Huntington’s Disease. It described how the blog has helped give voice to the HD community by exploring the major challenges faced by HD families, becoming a key reference for those families, and chronicling the quest to defeat the disorder.
As I observed, the blog has also “helped document the new and harrowing experience of living in the gray zone between a genetic test result and disease onset.”
At Risk for HD has addressed multiple topics including advocacy, caregiving, family trauma, coping strategies, genetic testing, discrimination, leaving the HD closet, participation in research and clinical trials, as well as religion, faith, and spirituality.
When my mother was diagnosed with HD in 1995 – two years after the discovery of the gene – little hope existed for treatments that could slow the progression of HD. However, in the past decade, advances in academic labs and biopharma firms have led to key clinical trials that show potential for affecting the course of HD and perhaps even a cure (click here to read more).
Telling the story of those complex developments has become a major focus of At Risk for HD. With the growing number
of research projects, I have necessarily highlighted those that appear closest
to producing actual drugs such as the Roche gene silencing program, which I
have covered extensively.
In 2021, the first Roche trial showed lack of efficacy. In 2023 Roche started enrolling volunteers in a more focused trial to see if the drug might work at least in some patients. Other key trials are in progress or being planned.
Hoping for an HD-free world, savoring life
Writing the entries of At Risk for HD has given me great meaning and purpose, which researchers have identified as increasing well-being and positively impacting the course of the disease.
For now, I plan to continue blogging as long health permits – and until the quest for a cure is complete.
In February, I hope to attend the crucial 20th Annual HD Therapeutics Conference at the Parker Hotel in Palm Springs, CA. The conference is sponsored by CHDI Foundation, Inc., the largest private funder of HD research.
In 2011, I delivered the conference keynote speech before 250 scientists, physicians, and biopharma reps – a decisive step towards my complete exit from the closet in 2012 and chronicled in this blog.
I have described the conference as the “Super Bowl of HD research,” covered in many blog articles and videos of scientists (see, for example, this one).
With the rest of the HD community, I hope for the announcement of effective treatments. I very much look forward to reporting on progress.
Just as important is the need to savor life – another key lesson of my journey with the HD community, this blog, and my friends and family.
