For my entire life, I have been great at dropping things, horrible at sleeping, and debatably the spazziest being to walk the Earth. For the longest time, I attributed all of this to my own weirdness, but when I went for my genetic counseling master’s degree, I started to wonder if there was more to the story.
I’ll never forget one rotation that was held at a busy hospital. In almost every shadowing session, there were more students than chairs in the room, so I ended up standing all day. Most days, I’d come home with an aching back and feet that felt like they were going to fall off. At the time, I was only 23 years old.
Eventually, all these weird, little things accumulated until they felt like they were towering over me. It all culminated when my boyfriend and I went to a water park. I stood up after exiting a waterslide, and suddenly, my foot started throbbing. I limped over to my boyfriend—embarrassed and unable to explain why my foot felt like it’d been impaled with a sword from the simple action of standing up. These feelings persisted at the hospital, where I was asked what kind of “trauma” I’d endured to cause me so much pain. The doctors eventually concluded that I’d injured a tendon in my foot, and they gave me crutches—which did not end well. The muscles in my upper body were far too weak to use the crutches for more than 5 minutes, and I was far too uncoordinated to use the crutches safely.
We decided that a cane was the best option for my safety, but it was not the best option for my mental health. When most people saw me—a perfectly “normal-looking,” young girl—with a cane, they looked at me like I had three heads. Others treated me like I was a child playing sick. Some people even pitied me, and that was the worst reaction of all.
In that moment, I developed a profound understanding of what it meant to have an “invisible illness.” This perspective helped me connect with patients on a deeper level than I ever thought possible. It also made me realize that we, as genetic counselors, may need to reconsider how we think about psychosocial aspects of genetic disease. Our knowledge about genetic disease is often drawn from the facts that we learned in medical textbooks, conference lectures, and board exams—but what if I told you that there was more to the story? The things that actually keep patients awake at night might surprise you.
Take me, for example. This year, I was diagnosed with hypermobile Ehlers Danlos syndrome. My biggest fear growing up wasn’t any of the things that you’d assume—like getting covered in bruises, having my joints pop out, or getting teased about my stretchy skin. It was sleepovers. I’ve had awful, chronic neck pain since I was 12 years old. Every single night, for as long as I can remember, I’ve had to lay on an ice pack before bed, or I cannot fall asleep. The idea of showing this vulnerability to others was terrifying, and it is still difficult today.
My biggest issues even as an adult are things that the medical textbooks don’t talk about—like tendonitis, chronic muscle pain, hot-cold intolerance, and a crappy immune system. Balancing a full-time job, constant doctors’ appointments, and life can often feel like a Star Wars saga. Those underlying fears of being “different” and “not enough” still make their way into my head when I’m at the pharmacy for the third time in a week, and the pharmacist looks at me like I’m a drug addict—or when I’m at the gym lifting my five-pound weights, and I see a woman double-my-age lifting 80 pounds.
The moral of this story is that you can never tell what a person is going through by glancing at a medical diagnosis in a chart. The things that patients struggle with the most are often things that you’d never guess, or things that the average person may take for granted. I hope that genetic counselors will attempt to study the psychosocial aspects associated with specific genetic diseases in the future. There is currently a lack of published research on this topic and investigating this may help us better understand and serve our patients.
National Institute of Health’s Cancer Genetic Physician Data Query (PDQ) content: PDQ® Cancer Genetics Summaries - NCI