My Turn: A Difficult Decision on Genetic Testing

To test or not to test.  It's a question I debate frequently. I wrestle with it because I have a parent with Huntington's Disease, a rare, degenerative neurological disorder that robs people of the ability to walk, talk and function on their own. Like me, all children of a parent with Huntington's have a 50-50 chance of inheriting the mutated gene. I'm 16 and I have not taken the test yet, so I am still uncertain of my fate.

My grandfather lived with HD for 15 years; my mom is now in the early stages. I've known about the possibility that I could have the disease for several years and have learned to live with it. Although I have become somewhat comfortable with the idea of what Huntington's will do to my family, I still realize there are many uncertainties in the future: can I live a good life with a positive test result for the mutant gene? Can my family and I cope with a positive result? How will this affect my future relationships and goals? All these questions leave me confused.

As I get older, I have to start making decisions for my future. I have always had my mind set on getting tested as soon as possible, but now I'm having doubts. (Testing isn't recommended for anyone under 18.) I know I still have time to make whichever decision I feel is best, but I also know that deciding is not going to get any easier. I want to continue school, marry and have my own children. Do I pursue these dreams in spite of the possibility of HD, or do I test to determine if I carry the gene? I am, of course, afraid of causing my future children pain. I want to be responsible for my decisions and have as much information as possible.

On the other hand, I'm scared that I may not cope well with the test results, or lose my motivation for life. The last thing I want to happen is to lose hope. I know that whatever the result of the test, I need to stay focused on school and my goals in life. As long as I channel my energy towards causes for HD I hope to stay on the right track.

I also think about my younger sister. She is 11 years old and although she has been well exposed to the world of HD, I can never be sure what she thinks about the situation. Since she is not especially open about the topic, I have trouble understanding her or gauging how much she knows. Another concern I have for her is how she will deal with mom when her symptoms worsen. My sister is so young.

My parents have taught my sister and me that all of the doubts, the "symptom searching" and the stresses can be successfully managed. They've demonstrated this by empowering themselves with involvement in the HD community. As they take us to Huntington's events, I've seen people go through the growth and adjustment caused by the rollercoaster of HD.

When I think about getting tested, I worry that it will put additional emotional stress on my family and friends. What if my parents don't want to know? All of us at risk for HD will eventually reach this fork in the road. Testing is a personal and emotional choice. Each individual has his or her own reasons for wanting or not wanting this information. Although the initial result may feel overwhelming, as I've seen, time is a major factor in the coping process--so is an optimistic outlook. There are no guarantees in life, so even with a positive test result, the world, as I know it, will not come to a halt. Embracing life and living it to its fullest potential is a choice, especially with the difficult reality of HD.

I keep in mind that every day researchers get a step closer to finding a cure. Through fund-raisers we can assist the dedicated medical people who are so passionate about finding a cure. One of my goals is to make my generation the last HD generation.

We need to spread awareness about the disease. I believe that more can and should be done to help those who are suffering from HD and for those at risk. Meantime, I continue to have that inner dialogue: to test or nor to test. I'm still not sure.

Join the Discussion