Genetic testing for Huntington’s disease determined my life’s path
How my negative result has influenced the person I've become
Today, Oct. 11, is my 37th birthday. Where does the time go?
In my last column, I wrote about my lengthy journey since my mom was diagnosed with Huntington’s disease (HD) in 1995. As I sit back and reflect, I realize how much my own genetic test result has influenced who I’ve become.
I chose to undergo genetic testing for Huntington’s disease in the summer of 2010. I’d graduated from college a year earlier and felt that I was finally putting down some roots. That year I’d taken a job at Lundbeck, a pharmaceutical company that developed the medication Xenazine (tetrabenazine), used to treat chorea in HD patients. Between my career and my participation in the Huntington’s community, my life already revolved around the disease.
I knew I was ready to undergo testing when I could picture two roads for my future: one where I tested positive, and one where I tested negative. The roads looked very different, but I was happy with each of them.
If I tested positive, I planned to forgo serious relationships and children, focus on short-term gains, take more risks, pack in more trips and experiences, and not stress so much about financial assets.
If I tested negative, I’d prioritize a relationship and family, go to graduate school, find a long-term career, purchase a home, think of life as a long game, and dedicate any extra time I had to being an HD advocate.
I realize I lacked a lot of wisdom, understanding, and knowledge about life in general, but at 22, those were my plans.
One Tuesday, I drove down to the South Side of Chicago to meet with the late Barbara Cellini, who ran the Thomas Cellini Huntington’s Foundation. Barb was an HD advocate and friend who helped people like me get anonymous testing. Her one request was to read me my results. On that day, I pulled up, walked into a small office building, and sat down in a chair.
“Are you ready for your results?” Barb asked me. I nodded, and she opened the envelope. “You tested negative for HD,” she said. Stunned, but acting as if it were some routine checkup, I thanked her and left.
Life on the ‘negative’ road
Almost 15 years later, I’m traveling down the road I told myself I’d take if I tested negative. I can’t imagine life without my wife, Jamie, and our kids, Harlin and Jett. I put myself through a Master of Business Administration program at Northwestern University and have been blessed to land a career I’m passionate about in the pharmaceutical industry. My family and I found a great home in North Carolina and are always looking for opportunities to enjoy life through travels, friendships, and experiences.
Today, you’ll find me taking the day off work to do an outdoor zip line course with Jamie and, later, force my kids to golf with me. The celebration will continue this weekend when my dad and Jett join me on a work trip to South Bend, Indiana, where we’ll attend the Notre Dame vs. University of Southern California football game. (Go Irish!)
Even when it’s not my birthday, not a day goes by without me thinking about how I can serve the HD community. It was part of my plan for the road I’m now on, and I’ll stay committed as long as I’m able.
If you want to get me a birthday present, think of one thing you can do for the HD community before the end of the year, and commit to doing it. If you aren’t sure how to help, consider making a donation to a Huntington’s nonprofit such as Help 4 HD International, which has a fund to help people access genetic testing and counseling.
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, and are intended to spark discussion about issues pertaining to Huntington’s disease.