Deciding to Continue Testing for HD

The decision to complete the genetic testing for Huntington’s disease was certainly a difficult and painful decision; however above all, it was a personal decision.

Of course, as someone who is extremely close with family and friends, I talked to just about anyone who would listen to me regarding the question of whether or not to be tested. Although the process of “talking it out” was useful in so many ways, both intellectually and emotionally, when it came down to it, no other person truly understood my situation, my dilemma, my life, my health.

Family and friends certainly had particular investments, or fears, about my going through the testing process. At the young age of 24, many felt I should wait to be tested, until for example, I wanted to have children, as many young women at risk for HD decide to do. Many of my peers empathized with, and understood my need to “just know – one way or the other”; while older generations seemed to identify with the “what you don’t know can’t hurt you”.

After participating in a support group for people at risk for HD for many months, and participating in private therapy for many years, I came to the conclusion that to not know would be irresponsible to my own health. My father, who is now 64 years old and residing in a nursing home, is fed through a feeding tube, bathed by a nurse, and can no longer communicate with us, his family, his loved ones, did not have the opportunity to participate in clinical and research trials during the early stages of his illness. He was only diagnosed with HD after years of constant depressive symptoms and digestive problems, when finally more persistent physical and cognitive symptoms led his doctors to consider neurological testing.

My father is one of 10 children, from a family in South America, where the illness is unknown to many who suffer from it. My father did not even know he was at risk for HD, as both of his parents died at early ages from other illnesses, it is still not known to our family which of his parents carried the gene. My father did not have access earlier treatment, counseling, research.

This notion - that maybe if we had known about HD in the family prior to the manifestation of his symptoms, then maybe he could have received earlier treatment, and maybe he would have had more time as himself, a man with a great sense of humor; a soccer player; a father; a friend – is what drove me to pursue genetic testing for myself. I realize my notion of maybes is childlike and wishful, but for me, for my own health, it isn’t at all.

If I waited until the symptoms of HD began to manifest in my mind and body, if I waited until I was, a guess, 40 years old, to find out if I had Huntington’s Disease, I would not have been able to participate in the numerous and ever growing clinical and research trials. Maybe, again maybe, the outcome of my illness would not be affected by an early detection. But maybe, my participation in clinical and research trials might help the hundreds of dedicated doctors, psychiatrists, social workers and researchers move toward finding a cure. The decision became more simplified. If I know I have HD, I can do something about it, for myself or for others. If I don’t know, I can’t do anything to help myself.

My wonderful and supportive fianc? (at the time, he is now my wonderful and supportive husband) never once asked me to pursue or not pursue the genetic testing. He understood what an utterly personal and difficult decision genetic testing can be and was respectful of my decision, either way. I still do not know if he wanted me to complete the genetic testing process, as he never shared with me his own questions or fears, he only helped me process my own.

Of course I worried constantly, although most likely irrationally, that he would leave me if I tested positive for HD, that our dreams of having a family together would be washed away with a positive result. Of course I feared what it would be like to know that one day I would become so sick that I would not be able to recognize or communicate with my own family and loved ones. I worried that a positive result would prohibit me from doing all things I wanted to do in life, that somehow I would stop living in that moment.

But I feared more what it would be like to spend my entire life wondering when the symptoms would manifest. Every time I missed a step, every time I coughed while swallowing, every time I felt depressed, I thought, is it coming? I felt that I could not live my life in the unknown, in constant fear and questioning.

My husband and I also decided that we wanted to have children together, and realized that if I tested positive, while time may not have been on our side, we still had options. I decided to begin the testing process with my husband’s support; however we did not inform our family and friends until the later stages of the process.

With every appointment, I agonized, lost sleep; however, I continued because I needed to know. My husband and I were getting married, and I wanted us to stand beside each other in front of our family, friends, and God, prepared to begin our lives together with a positive or negative HD result. I stopped thinking about what my family and friends wanted to me to do, and started thinking about myself.

In March 2007, on a cold and rainy day, after days of no sleep and little appetite, I went to the HD clinic to receive my test results. A few hours later, white eating pancakes in a diner with my husband, we called my father to tell him that I do not have Huntington’s disease – and that moment is what I will keep with me.

Andrea H.