Testing for HD means gaining control of her future for at-risk UI HDSA COE student employee

Thursday, December 17, 2015


Emily Szymanski profile portrait
UI senior Emily Szymanski wants to be a champion for HD families and help find a cure for HD through her work at the UI HDSA COE (photo by Owen Wade). 

Emily Szymanski came to the UI HDSA COE this fall after seeing a student job posting involving Huntington disease. Given the impact the disease has had on her and her family, she knew right away that she would apply. In the following article, the English major introduces herself to the HD community and shares her personal story with HD. 

By Emily Szymanski

It was a cool summer night after a long day of thunderstorms. My older brother (the Boy Scout) had stashed away several chunks of wood earlier that morning, so my family and I had dry seats to sit around the campfire one last time before the end of our vacation.

For my twin sister and me, our freshman year of high school would soon be starting, an adventure that our brother had experienced two years prior. My parents always insisted on taking these family camping trips throughout the summer, and even though more often than not it tended to rain, we always managed to have fun.

This time, though, was different.

This portion of the night was usually reserved for playing games and roasting marshmallows. But now, gathered around the fire, we sat in stunned silence. I remember trying to process the verbal punch that my parents had just delivered to my siblings and me. The flames danced as I stared straight ahead.

“Your dad is sick,” my mother had told us.

It was such a simple sentence, but it immediately changed the course of our lives.

“Sick” was their way of telling us that my dad had Huntington disease, the neurodegenerative disease that had rendered my grandfather bedridden for the majority of my childhood. While I had originally thought of his condition as one that affected the elderly, that night I was forced to realize the truth: my dad, a healthy man in his mid-forties, had a rocky slope stretched out before him.

The older I grew, the more I was able to understand what all this actually meant. My siblings and I had watched the drastic change that had overcome my grandfather, and we saw how the disease started to affect my dad. In the following years we discovered that one of my dad’s sisters had also inherited the genetic repeat that causes HD. Then, during my freshman year of college, my grandfather passed away due to a stroke brought on by HD.

Every day since that night around the campfire, I have been continually confronted by the various ways this disease impacts my family and me, and causes tension and stress for all of us. My father, who had been the main income earner in our family, can no longer work, and now my mother must take on that role in addition to being a caregiver and a mother. My grandmother, who took care of her sick husband, must now care for her divorced, ill daughter and help raise her grandchildren while facing heavy financial concerns.

These are familiar struggles that many within the HD community have to face, as the disease affects the lives of more than just the person who is diagnosed. However, while HD is a serious disease that unfortunately results in an untimely death, diagnosis does not have to mean the end of the world. My dad, for example, continues to find new hobbies – he has taken up intensive bike riding (50 miles per day), guitar playing, and working on model trains. Although these interests might have started to wane, he is always looking for other things to do that stimulate his mind. In the eight years since my dad was diagnosed, he has traveled to Ireland and Italy on separate occasions, and he continues to camp with my mom whenever they can. It goes without saying that not every day is perfect; my dad has his ups and downs as a result of HD. But overall, we are grateful that we can continue to make fun memories together as a family.

Working for the UI Huntington’s Disease Society of America Center of Excellence, I get to combine my professional goal of becoming a copy editor with my personal desire to help cure HD. While I might not be examining cells under the lens of a microscope, I am proud to help spread the word about research and raise awareness about HD. There are so many stories to tell within the HD community, and I look forward to celebrating the lives of those affected by the disease, as well as their caregivers and loved ones. These people are truly extraordinary individuals – they have to face very challenging situations, and they deserve to be recognized for what they do, especially those with HD. In working for the UI HDSA COE, I hope to share these stories so that these individuals and their struggles do not go unnoticed. Already, this position has jump-started my participation with HDSA and has introduced me to inspiring members of the HD community, and I am eager to become more involved, whether in Iowa or back home in the Chicago suburbs.

HD and my future: Where does this leave me?

Now as a senior in college with “real life” awaiting me after graduation in May, I find that I’m suddenly confronting HD from a whole new perspective. Instead of just experiencing the caregiver’s side of HD, I’m now becoming intimately familiar with what it means to be at risk for inheriting the disease. In the next month or so, my twin sister and I will undergo presymptomatic genetic testing for HD. With a 50-50 chance of being gene positive or gene negative, we are spending our last year in college trying to sort out life insurance while most of our peers are focusing on which jobs to accept to or where to study for graduate school.

For some people, the possibility of developing HD means having to live a lifetime in as short a time as 35 years, since the average age of onset is around 40. For my sister, this might mean choosing a different career path. She has always wanted to become a veterinarian, but now she needs to first ensure that she’ll have enough time ahead of her to complete the demanding academics, establish a career and then raise a family. While the test results won’t directly affect my current professional plans, they will most certainly influence my future goals, such as traveling the world, becoming a mother and where I will end up living. It’s been a jarring process coming to terms with the reality that my life might not span as long as I have always thought, and that it might play out in a completely different manner.

Although I am anxious about the results, I am looking forward to having closure to this phase of uncertainty in my life. The past few months I’ve been analyzing my every movement, second guessing whether or not HD is already affecting me in some way. The odds of inheriting the disease are like that of a coin toss, so this unpredictability has been discouraging. Looking at these odds, I feel completely out of control. With academic and extracurricular responsibilities that I need to concentrate on, I’ve encountered far too many sleepless nights wondering what my next steps will be when I myself don’t even know which paths will be available to me.

For me, though, knowing the genetic testing results will not determine my fate, but will instead help me shape my future. Testing positive wouldn’t be the end of the world, and that is the most important thing for me to remember. Being at risk for HD has changed my perspective on life – it has taught me to find the best in every situation because now I see that life is so short, with or without the threat of a genetic neurodegenerative disease.

Almost a decade since the night I learned of my dad’s genetic disease, I recently came to a different type of realization during another family camping trip. My parents were in town to visit, and with the days of camping in a tent far behind us, we spent the weekend in their vintage camper at a quaint local campground. This time there were only the three of us huddled around the fire. And instead of watching the dwindling flames, I kept glancing over at my parents, who were smiling and laughing as they shared some of their earlier memories and those that had been created that day. Suddenly, I felt at ease. Watching my parents, who had their lives shaken only several years ago, reminded me of the beauty in life even when there might be a dark cloud looming overhead. I am determined to keep a positive outlook regardless of the results from my genetic testing, because there are so many great things in life, and I won’t let a disease take that appreciation away from me.