Living At-Risk, and deciding to get tested or not

In life, we are all at-risk for something in life, one way or another. Risk of heart failure if you have a poor diet, or don’t exercise. Risk of alcoholism if you drink too much, even only on the weekends. Risk of losing your job if you don’t do you work properly, or do your responsibilities. It seems like all of these risks happen because of the choices we do or don’t make in our journey. My “at-risk” though is a different, because I don’t have a choice, and it’s not something I can change or modify. I have a 50/50% chance of developing a fatal, neuro-degenerative brain disease called Huntington’s Disease. In other words, a disease that kills your brain cells over time, leading to a variety of symptoms, such as unsteady walking, inability to speak, memory loss, swallowing issues, mood swings, impaired judgment, etc. This horrible, cruel, genetic disease does not have a cure, and it does not give people the choice to avoid it or not. There are modifiable factors that help, such as exercise, avoiding too much alcohol, having a good diet, etc. These may potentially help delay the onset of symptoms. However the disease and symptoms will always show at one point or another if you have the defective gene. I am living at risk everyday of developing HD, and I don’t know the outcome of my future concerning it. My mom tested positive for Huntington’s Disease about 20 years ago, and before that, her mother developed HD and passed from it in the 1970’s. Three of my mom’s brothers also developed HD, endured the horrendous, neurological, physical, and emotional symptoms, and then eventually passed away from the disease. Many people positive with the HD gene will develop symptoms between 30-50 years old, and typically pass away within 10-15 years of symptom onset. Each person is different though, some older and some younger than that age range, but these are the typical timelines.

Every child of a parent with the HD gene has a 50/50 probability of inheriting the gene too, and eventually developing all of the symptoms. The HD gene is caused by a mistake, a mutation, in the CAG repeats within one of our 23 sets of genes (chromosomes). The higher the mutation number of CAG repeats, the higher chance of having HD, and higher chance of developing symptoms earlier in life. Since the moment the embryo of me started making DNA and developing into a human being, I either did or did not have HD. I have been living everyday of my life that way, at non-modifiable risk. Arguably the biggest choice in the HD community, those living at risk of inheriting the disease, is to get tested for this gene or not. This is one of the most complicated, and personal choices we can make, and it’s certainly not an easy choice either way. Continue to live at risk, being anxious about your future, but also not wanting to be told your future outcome. I have personally said things like, “Why would I want to know if I’m HD gene positive if there is absolutely nothing I can do about it? Won’t it cause more harm than good?” Or, on the other side, knowing your gene status and having to live with that result, negative or positive. I have also said things like, “If I know my gene status, I can better plan for the future. And I can also feel less anxious about knowing or not. I’ll finally know”. For the first 10 years after finding out my mom had the gene and would develop HD, I was dead-set on never getting tested. Why would I need to know, what good would it do?? But as I went further into my nursing career, starting to see the benefit of planning, and also as I made an amazing and completely supportive relationship with my now husband, I slowly stated to reconsider my decision. Maybe I don’t want to life “at risk” anymore. And maybe, yes absolutely, I can make it through the genetic testing process, and live knowing if I will or won’t develop HD.

All of this said, it is an extremely personal choice, and one that cannot be taken lightly. I live at risk with HD every single day, because I do not yet know my gene status. But as I have grown to empower myself, learn to advocate for HD awareness and education, grow trusting relationships all around me, and finally trust myself and my resiliency, I feel confident I am ready to not be “at-risk” anymore. I am confident I will hold my head up high, find out my HD gene status, and continue moving forward one step at a time no matter if I test negative or positive. After this summer, I will have finished my genetic testing, and have my result. And maybe I do have a choice in all of this after all, and that number one thing is to trust myself and my future.

Meg, United States of America

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