I was sitting in a cold hospital room next to my husband, anxiously clutching his hand. The genetic counselor across from us withdrew a piece of paper from a white envelope and placed it on the table. She knew we were anxious to hear the results, so she got right to the point.
“You have tested positive for the gene that causes Huntington’s disease (HD),” she said.
I didn’t say anything right away. I just nodded and glanced quickly at my husband. I was desperately trying not to cry. In those moments, I knew that my life would never be the same. It would be spent living in limbo, waiting for the day when HD started to affect my body and my brain.
HD is a neurological condition that slowly kills nerve cells in the brain, causing cognitive impairment, uncontrolled movements, and emotional issues. Being diagnosed as gene-positive for HD means that I have the genetic mutation that causes the disease. I will get the HD one day; I just don’t know when the symptoms will start. Living life as gene-positive for HD means having to hold onto many conflicting views.
Some days I am accepting of my future with HD and look at it as a challenge to contend with. I trust that people with be there for me in my time of need. Other times I will be triggered by something like the shaking hand of an elderly woman in line at the grocery store. It will remind me of my scary future and bump me back into a depression where I fear not only how the disease will affect my body but that I will end up unloved and alone. How is it possible to be ok with HD one minute and not OK in the next?
Every few weeks, I go to visit my dad who is living in a retirement home. He is 76 years old and still mobile. In fact, he just stopped riding a bicycle last year. When I see him, I hope for the disease to present the same way in me. At the same time, I find I have to avert my eyes when he is having trouble performing simple tasks. It is hard to watch him knowing that the same thing will happen to me. When I notice he has a new symptom, there is a fine balance between helping him cope and not panicking about my future. How is it possible to want to be like my dad and not want to be like him at the same time?
When I was diagnosed as gene-positive for HD, just over ten years ago, there wasn’t anything promising on the horizon in terms of a cure. It has only been since new clinical trials were announced in the past few years that I have allowed myself to feel a tiny bit of hope, that maybe there will be a treatment on time for me. How is it possible to be hopeful for a cure while still remaining realistic and preparing for my future with the disease?
Even though I do not have any disease symptoms yet, genetic testing has completely changed my life. Living with the knowledge that my future includes HD is a huge challenge. It has only been with time that I have learned how to balance many opposing views.
With the plethora of genetic testing available these days (even the mail-in kits), it is so important for people to consider the impacts such tests might have on their lives. Quite often, there are unforeseen consequences that one can struggle to come to terms with for years to come.
Erin Paterson is a writer and the author of All Good Things: A Memoir About Genetic Testing, Infertility and One Woman’s Relentless Search for Happiness.
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