Nobody is guaranteed a long life. Some people’s experience on this planet is going to be shorter than others’, even if they do everything they can to live a healthy lifestyle along the way. Having grown up with the dark cloud of Huntington’s disease (HD) over the family, I was fully aware of that.
Prior to the positive result on my HD genetic test, I tried to avoid educating myself on the condition very much. All I really knew at the time was that it affected the brains of people who were afflicted with it at a young age. To me, Huntington’s disease was a death sentence, pure and simple. Why would I want to know anything more?
My genetic test result
As I mentioned in a previous column, my genetic test results were given to me via a telephone call from the genetics counselor. There was a week in between that call and my follow-up appointment with the geneticist to discuss the plan of action moving forward. That week was the worst I’ve ever experienced.
I was still under the belief that Huntington’s disease was an automatic ticket to an early demise. I remember having thoughts like, “I’m not going to see my kids grow up,” and, “I won’t be growing old with my wife.” It was a horrible period of time.
When the follow-up appointment finally arrived, the doctor shared a great deal of information with me, but one topic stood out. He mentioned that there were a number of exciting advances in Huntington’s disease research that were already happening or in the pipeline. He even went so far as to suggest that there may be a treatment available for me when I need it.
Me? I’m already in my 40s. Could that really be true?
My whole outlook on Huntington’s disease changed
There was no time to waste, I needed to know more. No more ignoring the Huntington’s disease elephant in the room out of fear. I began to read and learn as much as I could about the disease and all the exciting science and research surrounding it. A few weeks into this period of time, I attended an education event held by the Huntington Society of Canada at which they provided updates on the latest clinical studies that were being developed.
It was at this event that I began to learn more about gene silencing — more specifically, the study involving ISIS-HTT Rx (now known as the Genentech/Roche huntingtin-lowering therapy RG6042), which was in Phase 1 clinical study at the time. This was the first study to directly focus on the underlying cause of Huntington’s disease: the mutant huntingtin protein. And it was to be administered to real people. Not mice. Not monkeys. People.
The hype and excitement surrounding this study, which is now in Phase 3, was palpable, and has continued to grow to this day. I embraced the excitement, and for the first time since learning the results of my genetic test, I was feeling hopeful. I realized the geneticist was being completely genuine when he said there may be a Huntington’s disease treatment available in time for me.
My outlook changed because of the existence of that gene-silencing study. I experienced a real call to action and began to get more involved in fundraising and my local Huntington’s disease community. But most importantly, I no longer felt the future was already written, with nothing ahead of me but a black tunnel. Now, there was light.
Let this science change your outlook, as well
An effective treatment for delaying the onset of Huntington’s disease symptoms is close. Whether it be the gene-silencing method or another technique, it will come. Soon, there will be a treatment that can be taken orally (a pill), instead of through more invasive methods, such as lumbar puncture.
Allow yourself to follow the HD news and updates because there is a whole lot of good news out there. If you’re like I was and think of Huntington’s disease as an automatic death sentence, you will soon learn it is not.
Note: Huntington’s Disease News is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Huntington’s Disease News, or its parent company, BioNews Services, and are intended to spark discussion about issues pertaining to Huntington’s disease.