I was very early in a pregnancy, and I had recently been warned by a high-risk OBGYN that I had a more than 20 percent chance of dying if I carried the baby to term. A catastrophic series of delicate blood vessels in my digestive tract had formed. Because of the increased blood flow of pregnancy, there was a chance I could bleed out at any point during those nine months. While my condition put my own life at risk, it also put my future baby at risk of premature birth and all the hardship that often comes with it.
But I was also 37 years old and had no kids. As far as becoming a mother was concerned, it was probably now or never. I wanted to try to carry to term. Despite all the risks to myself, the test might have told me that at least the fetus had a chance at a normal life.
In 1996, when I was 21 years old, my father died an excruciating death. His body, when he died, was riddled with a thick milky fluid called lymphocytic exudate. For no reason that doctors could deduce at the time, his lymphatic system leaked protein as he slowly starved. His horrible death took four years, in and out of hospitals around the country. The swelling and the lack of nourishment made him prone to devastating infections. Doctors poked and prodded him during exploratory procedures and endless tests.
But it wasn’t until my great-aunt Joanie showed up clutching an old medical chart for her husband Nathan, who’d died in 1961 as a 34-year-old, that we began to figure out what was happening. Uncle Nathan was my grandmother’s brother, my father’s uncle. When we opened the chart, we saw that my father’s condition—everything from the swelling to the starvation—perfectly mirrored his uncle’s medical history.
A genetic research team affiliated with the Harvard Medical School and led by Dr. Christine “Kricket” Seidman joined my father’s case. They discovered that my great-grandmother, Uncle Nathan’s mother, had also died under mysterious circumstances.
When my dad died in 1996, there were still very few answers to his medical mystery. But Dr. Kricket, as I came to know her, stayed on our case. After years of diligent exploration—seeking out similar cases at hospitals and universities worldwide—she came to believe that my family had an orphan gene. In other words, patient zero (the first person to carry the gene) seemed to have lived only five generations, or 120 years, earlier. For comparison’s sake, cystic fibrosis—another genetic illness found on a single gene—is 2,625 generations and 52,000 years old. Photos of my great-great grandmother who died at age 80, show her with our gene’s characteristic swollen legs.
Dr. Kricket also came to believe that the gene was on the X-chromosome based on one strong indicator: Men got it worse.
For the time being, we looked and felt and were healthy, but we’d suddenly been plunged into a particular ring of hell, anticipating the very real possibility of a horrible and slow death, while also wondering if we were to have children, if we would subject them to something similar.