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What It's Like to Be a 'Medical Trailblazer'

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As a senior in high school, one of the speakers for my class talked about how we are all trailblazers, going where no one has gone before — paving the way for others who come after us. I thought it was an interesting perspective to hold and I really enjoyed it. Little did I know the type of trailblazer I would become, and the struggles that would come my way with being one. For starters, I’m not out in the world opening doors for myself or others in the job field. I’m not even a college graduate yet.

What I am is a “zebra.”

• What is Ehlers-Danlos Syndrome?
• What Are Common Ehlers-Danlos Syndrome Symptoms?

“Medical trailblazers,” a term my sister uses to describe me, are those of us with rare genetic conditions who often have no family history of the condition (after all, someone must be first, right?). Often, our friends and family don’t know what to do or how to help us because it’s a mystery to them. On the other hand, we also have the unfortunate reality of being faced with doctors who have never heard of our condition, let alone know how to help us. I think one of the hardest challenges is while some doctors may have heard of it, they wouldn’t think to test for it because there is no family history of the condition. When combined, this is the stuff that makes our journeys to answers and health more challenging.

I am the medical trailblazer for our family. At 19 years old, I was the first, and so far only member of my family to be diagnosed with hypermobile Ehlers-Danlos syndrome (EDS). The doctor who diagnosed me spent years studying the condition, and highly suspected I had the vascular type. He stressed the importance of regular cardiac evaluations and all the ways EDS could affect my heart and vascular system. I have since been diagnosed with three leaking heart valves, a hole in my heart (some reports even mention an aortic aneurysm) and a newly developed heart block. The blood flow to my heart is “off,” which often results in hypoxia and can lead to an increased risk of a stroke.

As the years have gone by, my case has become more and more complex, which now includes mysterious neurological issues. Doctors have run so many tests checking for all the common things, and have done this more times than I can count, but nothing is adding up. I’m fighting now for genetic testing for myself and I hope to find some answers for whatever is going on with me, whatever is battling to take my life.

As a medical trailblazer, there are certain things that are particularly challenging, especially as a young adult. I largely must advocate for myself, because if I don’t speak up for my care, who will? Unfortunately, my neurological issues are impacting my ability to speak.

I can’t turn to a family member for advice on how to cope with these issues, or even for advice or understanding from someone who has been there. I can’t turn to a family member or even a friend and say, “Hey, I’m struggling with this. I was wondering if you had this symptom, and if so, what did you do that helped?” On the other hand, there is no going to my doctors for help because they largely do not know what is going on with me or what’s wrong, let alone how to “fix” me.

With rare genetic conditions that have no place in my family’s medical history so far, I am left to fight and fight, and keep on fighting. With rare conditions, it’s possible that doctors have not heard of some of them, and therefore would never know to look for them, let alone know what tests to run. Other times, they have heard of the condition, but only briefly and still would not know to look for it as it’s nowhere to be seen in the patient’s family medical history.

This leaves us medical trailblazers with the difficult task of advocating for things we don’t even know exist. It will take many of us years to find an accurate diagnosis as well as the proper care, because doctors are trained to focus on the common problems, not the rare.

Even though we are not “common,” please don’t give up. This world needs each one of us with all of our unique characteristics and symptoms, with all of our unique personalities.

We are medical trailblazers. Because we are walking where no one else has, we cannot turn to those we love for hope that things will get better or that we will one day thrive. We must look inside ourselves — inch by painful inch — for the strength we don’t always feel exists. We must remember we are strong, resilient warriors.

We will not be beat.

Originally published: July 27, 2018
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