I'm At Risk For A Genetic Disease & Choosing Not To Get Tested — Here's Why

Thirty has always been a benchmark age. A sort of made up deadline people set for themselves to get married, have kids, buy a house or write a book. For me, 30 was always when I would make a decision about getting tested for Huntington’s Disease. 

Huntington’s Disease, also known as HD, is a genetic brain disease that deteriorates a person’s physical, mental, and emotional abilities. Symptoms like mood swing, forgetfulness, and involuntary movements called chorea can start to appear between the ages of 30 to 50, and then continue to worsen over a 10 to 25 year span. Anyone with a parent that has HD has a 50% chance of inheriting it themselves. There is currently no cure, just treatments to monitor and maintain symptoms. 

Though the disease itself isn’t necessarily fatal, complications such as pneumonia, injuries, or inability to swallow can be. For my dad it was an infection. He died two days before his 58th birthday, leaving my two sisters and me to grieve our father as we battled with our own impending diagnoses. 

Though we didn’t discuss it much, the few times my younger sister and I did broach the topic, she helped me realize that I didn’t actually want to get tested. I didn’t want to actually want to grow up counting down the days until I started seeing symptoms. Or counting down the days until my sisters could get tested. Instead, I wanted to continue to grow up like everyone else, soaking up experiences, making mistakes and building relationships. And that’s exactly what I did. 

So I decided that when I was 30 I would reexamine my options. I figured at 30 I’d have a better idea about what my life looked like: where I was living, what I was doing, and who I was spending my life with. And if I did decide to get tested, I would have a handful of years with a clear-head to wrap my mind around a positive diagnosis before symptoms started showing. This was the last time I made an active decision about getting tested. Instead, I spent my 20s focusing on the loftier conversations around HD. 

I wrote and talked a lot about my relationship with Huntington’s, mostly honing in on how being at-risk made me feel, especially the whole 50/50 aspect. I spent nearly a decade trying to articulate the complexities of having such a split-down-the-middle chance of, essentially, life or death. 

I was living my life like I had HD, but that wasn’t necessarily a bad thing.

What I didn’t spend much time doing was questioning my decision to not get tested. That was a task for 30-year-old Emily. Twenty-something Emily’s job was to set up and enjoy a fulfilling life that could make up for the fact that it might be shorter than most other people’s. As I was figuring out who I was in the world, I was also figuring out what I’d be leaving behind. Though this may seem morbid and even scarier than the possibility of a negative diagnosis, the reality was, I was comfortable in the mindset I had settled into. The thoughts and emotions I spent my time working through weren’t tangible. Getting tested was a tangible thing I could do with my at-risk status, and the reality of the situation was I didn’t really want to deal with it. Not really.

My Huntington’s diagnosis couldn’t touch my 20s. It may have fucked up my teen years and it could definitely fuck up future decades, but my 20s were my last hurrah of freedom before the disease could possibly wreak havoc on my 30s—from deciding to get tested to getting sick. Why would I want to muddle that down with certain results? 

It wasn’t until my 29th birthday combined with my engagement that I was really forced to start question my decision to not get tested. The freedom of my 20s was coming to an end in more ways than one. I was setting up a life alongside a partner who would rather know if I was positive or not. It was time to reexamine the decision I made at 16-years-old. 

So I called the genetic counselor in my local area. I wasn’t looking to get started on the testing process, I was just looking for resources and answers. I thought a counselor might help guide my fiancé and me through a conversation surrounding my at-risk status. I referred to it as our own HD Pre-Cana. But when I finally got in touch with the counselor, she started asking me questions about my family history, my health insurance, and explained what the testing process would look like.

I took the call on a walk home from the subway expecting it to be short and sweet. Instead the 20-minute conversation sent me into a spiral filled with tears and self-loathing that I kept to myself for a few weeks. When I finally came out of it, I told my fiancé that I wasn’t ready to get tested. If I couldn’t handle a quick phone call explaining the process, I knew I couldn’t handle the actual process itself. The phone call was the most concrete thing I had done with my impending diagnosis ever. It was also the worst I felt about my impending diagnosis since I found out I was at-risk. 

In reality, does this mean I’m just too scared to get tested? Maybe! And I’m fine with that, but I also don’t want to let fear dictate my decisions. So I took a long hard look at how my at-risk diagnosis was affecting my life and I was genuinely really happy with what I saw. 

I was living my life like I had HD, but that wasn’t necessarily a bad thing. I wasn’t being destructive or pushing people away. Instead I was working hard at a craft I enjoyed. I had created meaningful relationships with people who enriched my life and supported me. And I continued to learn and grow as a person with lots of interests, hobbies, and time to self-reflect. 

Even though I live like I have HD, there’s still that window of hope that I don’t. I still sometimes get to think about a future beyond 50. I get to fantasize about a life in retirement alongside a man I love, reading books, and going for long walks after dinner together. If I were to get tested and get a 100% positive result, I would completely lose this future. Without a cure, I don’t think I’d be able to maintain that “live life to the fullest” morale and live so productively. 

Lots of people make the decision to get tested due to commitments, especially to start a family. But since my fiancé and I have never wanted kids, the only commitment we’re making is to each other. Though he’d prefer to know the results, he fully supports the decision I’ve made. Because at the end of the day, it is completely my decision to make. And it is a personal one that I have not taken lightly.