I am a genetic counselor. But long before I knew what genetic counseling was, I found myself in a makeshift genetic counselor role. It was not until over a year later that I fell down the rabbit hole of a search engine to stumble across this profession. I followed that rabbit hole to its end, to when the letters “CGC” attached themselves behind my name.
To understand what led to the appropriate keywords to conjure up such an occupation on the computer screen of a college student desperate to find her path, I must start when I was 19 years old. Although if we are being technical, this all started the day I was conceived, when my parents’ respective genes sorted and split to decide who I would be as a person—including the single base pair mutation that could have ended my life and later guided my life choices in many meaningful ways.
When I was a sophomore in college, I developed excruciating pain in my thigh. I had a severe deep venous thrombosis (DVT) of my right leg. The blood clot extended through many veins from my knee to my groin. Later, part of the clot established a new home in my right lung. Known as a pulmonary embolism, this causes up to 100,000 American deaths annually. In many, sudden death is the very first symptom. After a week confined to a hospital bed and three surgical procedures to eradicate the stubborn clot, I was finally released. The doctors told me I was lucky to be alive and to have a functioning right leg. During this chaos, I was delivered another diagnosis in the span of a one-minute conversation with a distracted resident. I was told that a thrombophilia work-up had identified a heterozygous factor V Leiden mutation, and this was likely a primary factor in the development of the clot. End scene with resident.
Much is wrong with that conversation. First, what typical adolescent knows words like “thrombophilia” and “heterozygous”, never mind through a dense cloud created by pain medication? Second, delivering a diagnosis that is impactful not only for my health, but the health of my family, deserves more than two sentences. While hereditary thrombophilia is not a common indication to see a genetic counselor, this is still life-altering news that requires explanation. Similar issues can be found in the delivery of many genetic diagnoses that are explained to patients by providers without the knowledge, time, or training to do so. This is where genetic counseling becomes so important—not only for the patient, but also for other providers who wish to deliver the best possible care.
I researched factor V Leiden, after my primary care physician told me he needed to do his own research before explaining it to me. I was fortunate to be pursuing a degree in biology, as some of the information was familiar. I unknowingly entered my pretend genetic counselor role when relaying this information to my relatives. I described the condition and told my family to consider requesting testing from their physicians. When my mother, grandfather, and four aunts tested positive, I explained the impact of this diagnosis for their families. I did all of this because no one more qualified ever presented themselves as a resource.
A year after my health scare, I was sitting on my bed with my laptop following a particularly frustrating conversation with my parents about my future. As one might imagine, I had become fascinated with genetics in the last year. Fatefully, my internet search on the topic returned a news article about genetic counseling. That very day, I compiled a checklist of requirements so that I could apply to programs for the next cycle.
Genetic counseling is now a major part of my identity. So is factor V Leiden, and that horrible experience as a teenager. I frequently wish that I was given the opportunity to speak with someone like myself when I was first diagnosed. Yet simultaneously, I am grateful that what was lacking in my personal experience led to what I have gained today—the ability and the position to help others navigate the confusing or scary or heartbreaking or empowering journey that is a genetic diagnosis. My own path down that road, as my own guide, is a lesson I carry with me into every single session.