It began the summer after I turned fifteen in 1990, just after our parents took my sister Hilary and me on a two-week trip to Israel. We heard a thud and found our father on his stomach at the top of the stairway with his head near-tangled in the metal bars of the banister. Other than a gash that required stitches, he recovered quickly. But the truth was that an alarm had been sounded, although right then it was unclear what it foretold—or that it even had anything to foretell. We were not a family that routinely dealt with catastrophe. We lived in Ohio.
Over the next few years, my father’s health declined precipitously. During one extended hospital stay with a new team of doctors who had no answers, my great Aunt Joanie showed up clutching the chart of her husband, my great Uncle Nathan who had spent ten months in-patient at the NIH in 1960. A year later, at the age of 34, Uncle Nathan had died. No one knew why.
When it comes to rare diseases, it’s the loneliness that gets you. It’s the overwhelming vertigo of unknowing that paralyzes you. But when you add that it’s genetic, that it’s in your DNA—that every brick of an already-built building has to be swapped out to save you, that your cells are wrong—when your father realizes he’s not just in the fight of his life, but in the fight of your life too: Well, that’s something else entirely.
My father died in 1996 at the age of 49. At the time, we knew so little about how or why. But he left us with one invaluable resource: Dr. Christine Seidman and her team at Harvard’s Seidman Lab. Two years later, the Seidman Lab at Harvard University proved that my father had died from the catastrophic expression of a brand-new genetic mutation. A one-in-a-billion mutation. Patient Zero was my father’s great grandmother, a woman named Ester Bloom who visibly shared some of swelling that had characterized my father’s last years.The gene was found on the X-Chromosome, on the same gene that causes some forms of asthma. The thing about a father’s X chromosome is that it’s easy to know which of his children inherited it. If you are a boy, you didn’t. If you are a girl, you did. My sister and I were girls.
As anyone with a rare disease in America will attest, there is no first step. There is nothing to fundraise for. What you want is a pill that already exists, or a magic spell. But you are miles away from that. And when you put all the rare disease sufferers together, we just aren’t all that rare. And we sometimes feel like we are in a giant battle for attention and resources, both of which are often beyond the logistics of having to convince researchers that it’s worth their time to bother with a limited population of sick people. In our case, fourteen people had ever had our gene. Four had died. I felt desperate, and let’s face it, desperation is decidedly unattractive. Even more, it’s scary to think about, so when you don’t have to, you just don’t. Kind of like the New York City subway system, the fewer questions asked, the safer you can trick yourself into feeling. So, in the face of this harrowing news, I did nothing.
Then in my early-thirties I was told that a gene-related blockage in the portal vein of my liver had caused dangerous collateral pathways to form throughout my digestive tract. Gastric varices, delicate veins, could burst inside of me at any time. One physician called me a “ticking time bomb”.
When my sister was given a similar diagnosis, I found myself reinvigorated, ready to fight. It was a new kind of desperation, the kind that borders on plucky. I started pitching: This American Life, Oprah, Katie Couric, anyone who would listen. I had ideas for books, movies, I was prepared to do jazz hands and perform GENES! The Musical by myself in Central Park if that’s what it took to get the necessary attention and resources.
Finally, after a TedTalk, a book called The Family Gene published by HarperCollins, an episode of Something Is Killing Me on CNN, and a few New York Times articles, researchers at Harvard’s Seidman Lab conducted a study using mouse models and learned that a common asthma pill called Singulair could work as a protein reuptake inhibitor: In other words, it would keep our gene from expressing.
Three years after beginning to take Singulair full time, most of our family members have seen a noteworthy decrease in those dangerous collateral pathways. After my father died, his younger brother died, followed by my father’s Aunt Norma. My grandmother died from complications of the gene at the age of 92. Today five people still live with our gene. But thanks to in-vitro fertilization with pre-implantation genetic diagnosis, which weeds out our gene, no one in the sixth generation since our gene first mutated has been passed this gene. It will end with us.
Our story has a happy ending. But there are many more stories just like ours – people standing with ready jazz hands to have their stories heard. It’s our job to hear them. It’s our job to spread them—to help them get the attention and resources that are the first step on a brand new path that it is up to them to forge. I encourage us all to pay attention and to listen.