We knew that my father was ill when my parents dropped me off at Tufts for freshman orientation in September 1993. What we didn’t know was what he had, or how bad it was soon going to become. His legs were a little swollen, and not long before bringing me to Tufts, he’d undergone an emergency procedure in which four quarts of pure lymphatic fluid had been pulled out of his lungs. The fluid, the color of lemon chiffon and the consistency of a milkshake, had been keeping him from breathing. Neither my father, himself a physician, nor anyone else in the hospital room had had any idea how the stuff had gotten into his lungs to begin with.
After a bit of unpacking, my parents pulled away and I began my first year of college. But it wasn’t long before they were back. They spent a lot of time in Boston, among other places, over the next year as they sought answers to the mysterious illness that was plaguing my father. They lived in Columbus, Ohio, my hometown, but my dad had grown up in western Massachusetts. When he was twelve, in 1959, he had undergone one of the first open-heart surgeries at Boston Children’s Hospital. Could his current medical condition somehow be linked to that childhood procedure?
Try as they might, the experts on my dad’s ever-expanding medical team could provide no answers. The one thing that was clear was that my father had a severe lymphatic leak with no clear point of origin. The fluid leaking out of him was protein rich, and protein that leaks doesn’t get digested. Which meant that, on top of making him uncomfortable, the illness was starving him.
In 1995, during my sophomore year, I was in a band called “ethel g,” so named because we had taken a few Deborah Digges poetry classes, and because we appreciated e e cummings. Our songs, largely feminist explorations of love, sex, and drugs, were probably cliché and unremarkable, but if you asked any of us, they were life changing. Music was a huge part of my life in college, perhaps because I was desperate for any kind of distraction. And I wasn’t alone.
One night, when we were playing the Hotung Café, my mother and grandparents came to the show. My father was in the intensive care unit at Brigham and Women’s Hospital, just a few miles away. By this time, his extended stays in the ICU had become routine for us, and we had long since become familiar with the fact that when lymphatic fluid leaks into the body cavity, everything swells. That extreme swelling had made my father’s skin vulnerable to infection. So after yet another exploratory surgery, he was lying there in the hospital while we played, battling yet again for his life. For my mother, and my grandparents when they joined her, visits to campus had become a way to collect themselves.
With my family in the audience, I sang louder than usual. The next day, I skipped class to join everyone in the ICU waiting room. The demands of college and those of my personal life weren’t always easy to keep in balance, and after I left the hospital to pick up an assignment I’d missed that day, I got another admonishment for missing still another class.
my father survived that latest medical emergency, even if ethel g didn’t make it much past junior year, but by the fall of 1995, he was back in Boston again, undergoing more tests. His illness still lacked a diagnosis, two years in. My great-aunt Joanie traveled up from Yonkers to lend support. She arrived clutching the thirty-year-old medical chart of her husband, my great-uncle Nathan, who was my grandmother’s brother. He’d died in 1961, a swollen thirty-four-year-old man with two toddlers and a young wife at home. His death had also been a mystery. When Aunt Joanie showed me his chart, I couldn’t believe how the words matched those on my father’s chart nearly word for word: “Lymphatic fluid of unknown origin,” it read.
Also in Aunt Joanie’s possession were medical notes from Uncle Nathan’s mother—my great-grandmother Mae. She, too, had died from a buildup of fluid. But while Nathan had been sick for less than three years when he died, Mae had lived with her illness for almost twenty years. Her cause of death was an infection resulting from exploratory surgery.
As I watched my father and grandparents review the materials that Joanie had brought—as I watched them be confronted with the haunting details of Nathan’s and Mae’s strange illnesses—it suddenly occurred to me that, for them, it was difficult to accept that my father’s case might not be so isolated after all. It was beginning to dawn on all of us that my dad’s illness might be a part of something more sinister, and with far-reaching implications. After all, if this thing was genetic, who else was poised to get it?
later that same fall, Dr. Christine “Kricket” Seidman, a genetics researcher from the Seidman Lab at Harvard Medical School, took on our case. But after months of searching, she hadn’t been able to find any other cases like my family’s. One thing was coming into focus, however: if the diseases contracted by my father, Nathan, and Mae truly were connected, women seemed to get a less severe form than men. They lived longer, with fewer catastrophic setbacks.
That led Dr. Kricket, as I came to call her, to the X-chromosome. Women, of course, are born XX, and men are born XY. When a man has children, he passes Y-chromosomes to sons and X-chromosomes to daughters. What that seemed to mean in this case was that, if my father’s illness did turn out to be genetic, and if it was the result of flawed genetic information on his X-chromosome, chances were that my sister and I had inherited it. Dr. Kricket didn’t have proof of this, unfortunately. She just had a theory.
I was so busy worrying about my father and my schoolwork that there wasn’t time to fret about what any of this might mean for me personally—that is, until I took a class about the impact of genetics on psychology. To illustrate a point about the genetic roots of depression, the professor brought up the Fondas, the Hollywood family with three generations of movie stars. The Fonda family tree, it seemed, was riddled with suicides. “Suicide,” the professor said, “is genetic.” I couldn’t stop thinking about that. Genes were so powerful they could affect even our mental health.
But that was only the beginning. Later in the semester, the same professor brought up the sad tale of Arlo Guthrie, so poetic it could have been sung by his father, the famous folk singer Woody Guthrie. The professor explained that Woody Guthrie’s mother had died of Huntington’s disease, a genetic disorder that usually has an adult onset, and can sometimes cause dementia. Woody’s mom had set a coal fire that killed one of his young sisters, and was later committed to the Oklahoma Hospital for the Insane, where she died. Woody later died of the same disease. I have never forgotten the moment when the professor turned to the class and said, “Arlo Guthrie won’t know if he has Huntington’s until he gets it.” Then she posed a series of questions that would haunt me for years: “What should Arlo do, knowing that he might get something that will kill him young? Should he get married? Should he have children and risk passing along the gene for Huntington’s?” Suddenly, I began to think about how those questions related to me, too. If my father’s disease was genetic, I had, by definition, a fifty-fifty chance of having the gene that was causing it. And if that gene was on the X-chromosome, my chances were 100 percent. But like poor Arlo, I wouldn’t know any of this for sure until I actually got sick.
At the beginning of 1996, I took off the second half of my junior year to move home to Ohio and help my mother take care of my father. After I returned to Tufts, it felt like I was making a solo journey through the second semester of my junior year, which for everyone else was senior year. Then came September 1996, which played out like a protracted nightmare. I flew back and forth to Columbus three times in two weeks as my father’s organs began to fail, one by one. With his body losing nutrients to the trapped lymphatic fluid, he endured a slow and painful starvation. By month’s end, my forty-nine-year-old father had died.
seven years after my father’s death, I had basically sputtered to a standstill. I was living in San Francisco with a codependent boyfriend, seeing a therapist twice a week, and playing an alarming amount of computer solitaire. One social worker suggested that I had what she called “launch-pad disintegration.” I had no plans, no desires, no real interest in getting out of bed. I was working for a friend who owned a fashion business, and who enabled me not to work too hard. Adding to my depression, two more family members had died of the same miserable illness that had taken my dad: my great-aunt Norma passed away in 2001 at age seventy-five, and my uncle Norman, my dad’s brother, died at fifty-four in 2002.
It was right around this time, in 2003, that work was at last completed on the Human Genome Project. That effort, begun in 1990, involved researchers from around the world pooling their work on the study of human genes, and it just might be humanity’s most significant accomplishment, ever. For the first time, we had the ability to attach specific genes to genetic characteristics. In other words, this cluster of proteins, which make up this gene, tells us that this person will be predisposed to have brown eyes, and so forth. Scientists from around the world named thousands of functions for thousands of genes, all of it in the form of something like a map. The first human genome map cost the world more than $300 million. Today, you can have yours done for around $100.
Back in Boston, Dr. Kricket, along with the help of a diligent fellow named Meredith Moore, used the scientific breakthrough to look, protein by protein, at the DNA of my family members. There was no computer to aid them, yet they managed to map a tiny gene-cluster in 2003. The results? Unlike Arlo Guthrie, I wasn’t going to have to wait to contract my father’s disease to know that I had the gene for it. Dr. Kricket was able to say conclusively that my sister and I—along with six other members of my family—were carriers of the family gene. Just fourteen people had ever lived with our gene, and I was one of them. I also had a 50 percent chance of passing it along to any children I might have, which left me with some real decisions to make. It took me another ten years to finally face them.
thanks to the human genome Project, and the careful work of Dr. Kricket at her lab in Boston, we now know a lot more about our family disease. Dr. Kricket believes that our gene causes pressure failures in the portal veins of our liver, compromising pressures in our lymphatic systems that lead to the catastrophic symptoms suffered by my dad and other members of my family.
Our illness likely began five generations and one hundred twenty years ago. We believe that patient zero was my great-great grandmother, a Russian immigrant named Ester Bloom. According to family lore, Ester’s legs began to swell in 1903 while she was hanging laundry during a blizzard, pregnant with twins. I have seen her in several pictures. In one, Ester sits in a chair while her daughter, Mae, stands behind her, smiling. Ester’s ankles are our best clue that she had our family gene. Our guess is that she passed it to Mae, the eldest of her three children. From there, we believe, Mae passed it to three of her five children, who passed it to five of her eleven grandchildren, who passed it to four of her twenty-five great-grandchildren, of which I am one.
We are hopeful that as society’s ability to battle genetic diseases improves, we will eventually be able to cobble together a cure. Until then, though, my family and I have decided together to come up with our own solution. There are so few of us, and given everything we’ve been through together, we know each other as well as any family could. Our idea is to take advantage of an opportunity to keep our gene from ever spreading to the broader population and impacting thousands of lives. Imagine, for a moment, how the world would be different if someone had had this chance fifty-two thousand years and 2,625 generations ago, when another disease with a single common ancestor, cystic fibrosis, is believed to have originated.
So what is our family solution? Thanks to great advances in genetic medicine, we are now able to select our family gene out of existence. Using traditional IVF coupled with a procedure called preimplantation genetic diagnosis, or PGD, doctors can implant only fertilized eggs that do not have the family gene. I haven’t given up on a cure for the rest of us, of course, but for now I am grateful for the tiny bit of control we have been afforded, something that my psychology professor, and Arlo Guthrie, could never have anticipated.
back in san francisco, i finally began to emerge from my sloth. I forced myself to move to Brooklyn, where I landed a job with a friend from college who was producing independent films. I also began writing full-time and even met a great guy. He asked me to marry him, despite my gene.
In the fall of 2010, both my leg and hand began to swell with the telltale lymphatic fluid. I ran back to Boston and Dr. Kricket. After an MRI, she broke the news. “Your portal vein has failed,” she said. “You need to get a doctor.” The portal vein is an important one. It channels blood through the liver. When it fails, the body creates alternative pathways called varices, as in varicose veins. They are more delicate than the traditional pathways, because they are expanded veins carrying more blood. They can burst internally at any moment. With this health scare looming over us, my husband and I married in July 2011. After the wedding, I underwent a procedure to reopen my portal vein. It failed. During a follow-up visit, I asked my doctor whether he’d have a baby if he were us. “I wouldn’t,” he said.
That’s when I realized that I wouldn’t be having children. I was devastated, and I wondered whether my husband would be, too. He’d known about my gene, but would he blame me anyway now that he would never have a son or daughter of his own? When he heard the news, he looked at me lovingly. “It’s a good thing,” he said, “that we love dogs.”
Today, there are twenty-three children in what is now the sixth generation since we believe our family gene made its first appearance. So far, not one of them has been passed the gene. In February 2008, my sister underwent IVF with PGD. Nine months later, my healthy twin niece and nephew were born. Addison and Billy are now eight. Billy was named after my father. He has his name, but not the gene that killed him.
Joselin Linder, J97, is the author of The Family Gene. She is a regular contributor to the New York Post and lives in Brooklyn with her husband and two dogs.