In preparation for future pregnancy, I’ve opted to pursue carrier testing. My maternal uncle had Duchenne’s muscular dystrophy; my single grandma and my mom (his younger sister) cared for him until he died from respiratory failure at 21. My uncle has always been a mystery to me.

He died long before I was born, but I knew tidbits about him. He was very sweet, gracious, and loved to laugh. My grandmother adored him & caring for him. I was told she was the carrier and as I learned genetics in high school and college, I worried that I could be too.

My mom took the faith path. While pregnant with her first child (who turned out to be a boy), she was offered screening. I chuckle that the best that 1988 could offer was a CK (a measure of my mom’s muscle proteins). As a nurse, she knew how inaccurate that would be and declined.

My brother was born without the condition and she had two girls after, me and my younger sister. Her carrier status is still unknown.

I met my first patient with Duchenne’s in med school and I cried after. For the first time, it felt like I could see the uncle I never met.

I could picture his life and the challenges he navigated. I learned how respiratory advancements have prolonged life expectancy in ways my uncle couldn’t access back then. The mystery of his reality began to dissipate.

The testing has advanced, and now I can find out my status.

During my pre-conception genetics appointment, the counselor asked, “how was your grandmother’s carrier status confirmed?” Despite all I’ve learned about genetics and the possibility of de novo mutations, I realized it never was.

My uncle was born in 1951; the double helix was discovered in 1953

When I asked my mom, she explained that my grandmother questioned every possible cause for my uncle’s condition and the doctors told her: it is you. You’re the carrier. She’s lived with that guilt her whole life

I can’t stop thinking about that trauma inaccurately and inhumanely placed upon her shoulders, which led to doctors scaring my mother, and me fearing my own test results from the day I learned about x-linked inheritance.

Our communication as physicians has generational impact.

Even though we never met, I’m grateful for my uncle: for the joy he brought my family and the empathy and understanding he’s given me for patients with disabilities. My hope is to separate his beautiful memory from the shame and guilt that has burdened those he left behind.