Shayanne Martin dreams of doing community health work in Zambia, but when her daughter is born with a host of medical challenges, she suddenly finds herself wondering whether the future she imagined is still within reach.
Transcript
On my wedding day, I vowed to love and support my husband, as long as he would finally move out of the country with me. You see, we had met in grad school, and I was there to jumpstart my career in global health in pursuit of my childhood dream of ridding the world of disease. Instead, five years later, I had followed him to San Francisco for his residency and then fellowship after he completed med school.
It was finally my time to live abroad, and we had settled on Zambia in Southern Africa, where we would both find work, me in community health, and him as a neurologist in a teaching hospital.
We had excitedly found out we would be making the move as a party of three. I found us a tree‑lined, sunlit cottage, and a nanny who had cared for my co‑worker’s three children.
A few months before we were to leave, and after 56 hours of labor, we welcomed our daughter, Cora into the world. We stayed in the hospital for three days, and she spent some time in the NICU. I wasn't sure if I was just tired from not sleeping for the two‑and‑a‑half days I was in labor, or if it was the reality of being a first‑time mom to a human who is hours old, but I found this time in the hospital to be overwhelming and exhausting. Every few hours, she seemed to be diagnosed with something new. A club foot, deviated hands and fingers, hip dysplasia, thumbs tucked inside the palms of her hands, two holes in her heart, swallowing and breathing issues, low tone, and an umbilical hernia that took over her whole torso.
Someone at work sent out an adorable yawning photo of my sweet baby girl and said, “Mom and baby are doing fine.” But things did not feel fine. Cora was not fine. I was not fine. No issue by itself was life‑threatening, and almost all were treatable, but as we neared discharge, I asked one of my nurses, “Is this normal? So many things seem to be wrong.”
I wasn't expecting her answer. She told me what we were experiencing was not typical, and she encouraged us to ask about genetic testing.
For many families, this is the part of the story where a diagnostic odyssey begins, years wasted on specialists, insurance denials, and misdiagnoses. Fortunately, that's not our story. Within three weeks, we had an appointment with a pediatric geneticist, and on our very first visit, he ordered the holy grail of genetic testing, whole exome sequencing. This test maps out the part of the DNA responsible for making every single protein in the body, which are the building blocks that keep everything running.
Three weeks later, we received a message from the geneticist saying the results were back. He wanted to speak with us that day. As a post‑COVID baby, the visit would be virtual.
I don't remember the wait, although I'm sure it was agonizing. I do, however, remember my husband and I sitting shoulder to shoulder on second‑hand IKEA chairs at our second‑hand IKEA kitchen table peering into the screen.
In the virtual appointment, the geneticist shared the report on his screen. He diagnosed her with a rare genetic disease, and I read words on the screen like developmental delay, low IQ, and seizures. Only 14 cases have been studied, and there were less than 30 reported cases worldwide.
After the geneticist was done talking, my first question was, “We can still go to Zambia, right?”
My husband, who was a neurologist, looked at me incredulously, bowed his head and shook his head no.
“What?” I exclaimed. “She’ll develop slower, but she’ll catch up, right?”
I looked to the geneticist who responded that she would need a lot of therapy and precautions for feeding and respiratory challenges, which had caused deaths in infancy. He didn't advise moving to a different country if that level of care wasn't guaranteed.