What The Breakthrough in Huntington's Research Means to Me as a Person At-Risk

From my last visit with dad. 

From my last visit with dad. 

When I first sat down to write this essay, I planned to start off on a positive note, saying, confidently, I’ve always felt hopeful about my future with Huntington’s. After all, one of the joys of being young and ambitious is having a head full of hopes and dreams. But after my dad died, hope started to feel impossible.

I’ll be the first to admit that I’m an incredibly fortunate 25-year-old woman living out my dream; writing in my favorite city surrounded by the best people. But that’s only part of my reality. The other part is my dad died of Huntington’s disease last year and my two sisters and I all have a 50/50 chance of suffering the same fate.

Since discovering my dad’s illness and how it would affect me, I’ve struggled with the whole 50/50 odds. When I’m splitting the check or getting something 50 percent off, I’m psyched – it’s easy-to-do math and a significant discount­– but when it’s my life on the line, it’s not as simple. In fact, it’s one of the most complicated percentages that exists in my world.

I’ve always bounced back and forth between knowing I did or didn’t have HD. I always knew too, I never thought or suspected–  I knew. There were months at a time where I knew that I didn’t have it. Every day I would think, there’s no way. My luck was not that bad. Then, one day, my tune would completely change. I’d think, ‘Of course I have it! All these other people got it, what makes me so special?’ Then when my dad died, I accepted that I wouldn’t play these back and forth games anymore. I would forever, in my mind, know that I had the Huntington’s gene. It’s hard (impossible?) to think you can beat something that so shamelessly took a person who’s supposed to protect you.  


I could put this mental battle to rest and get tested so I would know with absolute certainty that I did or didn’t have HD. As simple as that sounds though, there’s so much more to it. You can’t just go into a doctor’s office and get a blood sample taken. You have to attend a set of at least three sessions, where you meet with a genetic councilor and a psychologist to ensure you are ready for the results– whatever they may be.

I’ve decided that going through all of this will not help me in any way, shape or form. No matter whether I get back negative or positive results, either will only complicate my life even more. Just think, if I do test positive, it’s like I’m signing my death warrant at 25. If I test negative, then I still have my sisters to worry about. Even though my odds don't effect theirs, I’ve always felt like if I test negative, my sisters have a likelier chance of testing positive. I know this thought process is just straight up wrong, but to me it feels real and daunting.

My reality has always been a bit blurred and skewed thanks to my 50/50 chance. Having this awareness of something so up-in-the-air influences all kinds of my decisions or feelings. Sure, no one has a 100 percent assurance on what their future health looks like, but it’s strange knowing such a definite number that sits right in the middle; not swaying one way or another, for something as serious as an incurable disease. My family isn't particularly lucky (for many reasons) and with something so in-the-middle, luck feels important if not necessary. The only thing I've ever been able to hold on to is what has happened. And what happened is my dad didn't beat it. So how could I? 

* * * *

As we get older, we all begin to see our parents in ourselves. We start to see their mannerisms and habits manifest. As I approached my quarter-life mark, I began to see in me my dad’s love of music, his fascination with history and his same deteriorating end-of-life stages. Any hope I had been barely holding onto before his death, the jumping back and forth, was totally shattered that April day.

Then in December, something happened that brought back hope. Not just a speck of it either, but an overwhelming sense of it. There was a breakthrough in HD research, the biggest one since isolating the gene in 1992. Researchers studying the drug IONIS-HTTRx announced they were moving forward to the second and final part of the trial after showing promising results.

They had discovered that the drug successfully intercepts the messenger molecule and destroys it before it can create the mutant protein, huntingtin, that causes HD symptoms. Currently people with HD can only get medication to treat certain symptoms. This means the cognitive, psychological and kinetic effects of the disease still lives within the person and can resurface if medication stops. Thanks to this new drug though these symptoms are prevented before they even occur.

Unfortunately this discovery doesn’t help people who have already begun showing signs of HD. For a person at-risk like me though, it is one of the most promising things we could hear besides, "this gene doesn’t exist in your family anymore."


This news completely changed my mentality on what my life could look like. I can have any future I want without worrying about how it will affect my family or hinder my career. A year ago, I made a choice to quit my job and pursue writing full time, understanding full-well that I could lose my ability to think clearly and write before I turn 40. My dad did it all ‘right,’ conventionally speaking. He went to law school, was in the JAG and worked as a Cincinnati magistrate. All was good until he just couldn’t do it anymore thanks to the early stages of HD. Right before his diagnosis, he couldn’t even hold a job as a bag boy at the local grocery store. Thanks to this new drug though, there’s a possibility that I can stop this devastating decline before it ever even happens. It has given me a chance to live my life like everyone else, without the weight of a devastating future dictating my decisions.  

Before this announcement, the only thing I could really cling on to was the thought that I simply do not carry the gene. Now there’s actual options if I do test positive. Even more significant, there’s options if my sisters are positive. Now, no matter whether one of us or all three of us have it, we can treat and fight it if we need to. My family may not be lucky, but we are all fighters.  

The word “incurable” inevitably feels hopeless. Now the at-risk community has actual tangible science we can hold on to for the hope we deserve. This breakthrough gives me and others in my position a shot at a full life. If I do have the gene, I can tackle it head on and fight it the same way anyone else does other illnesses. It’s no cure, but it’s pretty damn close.

So grateful for my amazing and supportive friends (family?) .

So grateful for my amazing and supportive friends (family?) .

I’m so grateful that this discovery happened when it did. It came at a point in my life when I’ve never felt more aware of my own immortality. By no means does this drug make me feel immortal, but it has brought back a feeling of aspiration that I thought was lost forever. Now I have the opportunity to be like any 25-year-old; Figuring life out and stumbling along the way. Now I don’t have to take these falls so hard anymore, thinking I’m wasting precious time I don’t have. I can enjoy my complicated journey and make the much-needed mistakes that happen along the way.

No longer will hopelessness dictate how I feel or what I choose to do. Thanks to this discovery, I will dictate how I feel and what I do with my life– and nothing can stop me.

The No. 1 Thing I Wish I Did Differently In College

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My philosophy on regrets is the common idea that they're a waste of time. Looking back at all the bad choices I've made (and trust me, there's plenty) I'm grateful for every single one. After all was said and done, I was able to look back and learn from the decisions I made. Moving forward I'd always remember my experience and make better choices. 

One thing I can't go back and do again though is college. Almost four years after graduating, there is something I wish I had done when I was there – wanted to learn. I wish I took advantage of the fact that smart, educated people were standing in front of me to explain subjects that I now have to learn on my own time.  

Like most college students, I enjoyed partying and hanging out my friends the majority of the time. That's not to say I didn't work really hard. During my junior and senior year, I held down two jobs, an internship, classes and was editor on the school paper. Unfortunately, the thing that fell by the waist side was classes, which ironically was costing the most and the reason I had to work two jobs. All I cared about was having a good time and a good resume to show off to get the job I wanted. I worked just hard enough so I could get A's that would keep my GPA high enough to look good on my resume next to everything else. Instead of using college as a place to learn and expand my mind, I used it as a playground and a resume booster.

Confession (I hope none of my professors read this): I was an English major and read maybe three full books throughout my entire four year college career. Instead of taking the time to read a novel, I Sparknoted and skimmed through pages so I could pin point certain sentence structures and language during class. I bullshitted my way through discussions year after year. Rarely did I come up with fresh thoughts. They were mostly things I found online about the deeper meaning of the book. The only time I came up with my own ideas was during a script analysis class and that's because the reading was so short I could read it the night before. Not to mention, I was the only english major in the class so I was more used to critical analysis than most the performance majors I was with.  

Now that I'm out of school though, I'm always reading a new book. Not just fun Gillian Flynn-type books either, but novels that I was supposed to read and discuss in class six years ago. I can't put them down! Only now when I finish I don't have anyone to discuss themes and characters with, which can be a real pity at times. 

It's not just books that I'm going back and indulging in either. History has always been an interest of mine, especially New York City history. When I took a class with this specific focus sophomore year, we never got passed the 1800's. As disappointing as this is to me now, at the time I was thrilled that class was so slow and easy! In my own time I now read all kinds of history books about New York City. They often take a while to get through and there's lots of checking back in to see if I remember stories and facts correctly, but I just love knowing things! As stupid and trivial as it sounds, it's true. I like understanding references people make or telling a story to others who may find it interesting. It's a strange (and I'll admit, sometimes annoying) development in who I've become as a person but it is what it is. And if I'm being honest, I'm proud of it.  

Recently I went back to a museum I was assigned to go to college. "Ugh, I have to go into the city and go to this stupid museum," I remember bitching to my friends. Last week, I went to the same museum and chose to pay the full price that we got comped for class last time. It wasn't cheap either. It was a guided tour about Irish immigrants through the Tenement Museum. It felt so great to be a part of an hour class-like environment, asking questions and answering others (probably obnoxiously so). 

I don't regret how I did college by any means. I'm working and writing in the industry I strived so hard to get in to. I also made friendships and memories I wouldn't take back for all the money in the world. Anyone who spends too much time focusing on classes is also missing out on prime opportunities college offers. It's not bullshit when people say there's more to a college experience than just a degree and studying. For most people, it's the first time you're on your own and away from your parents, making your own decisions and meeting new people. There's a lot to be said for this time in your life when you're learning who you are as an individual. 

Then on the other end of the spectrum, if you're skipping and bullshitting your way through classes, you're missing out on part of the joys of a college education. Instead of just counting down the minutes until class was over, I wish I spent my time listening and caring about what professors were telling me. I mean actually caring too, not just caring because it would effect my grade. Okay, maybe not all classes because no matter what I will never pay attention to a science or math lecture, but in my english and social science courses. I should have engaged my mind more rather than just doing the bare minimum.

It isn't until you're out of college that you realize that it could be your last chance to be in school. It costs a lot to learn in this country and I can't afford to do it anymore unless I do it myself. So all I'm saying is, if you are in college, acknowledge it for the gift that it is and take advantage. Not everyone has the opportunity you were given and you might not ever get it again.