The Family Gene

by Joselin Linder

  My sister, uncle, aunt, grandmother, and grandfather all joined my mother and me in the hospital waiting room, where we began watching movies like 8 Seconds—the Lane Frost story starring Luke Perry—and playing cards.

  The room was perfect for little more than watching terrible movies. It wasn’t the general-surgery waiting room—it was the ICU waiting room. It contained about fourteen chairs, three along each long wall, a love seat against the back wall, and two back-to-back rows of three chairs in the middle. The room was so small that only about three feet of aisle space wove a square around the middle chairs. The TV hung from the far corner ceiling, angled downward toward the desperate eyes of the room’s pathetic and exhausted occupants. Sometimes, when all the chairs were full, I’d sit on the limited floor space. I’d lean back against Hilary’s knees or rest my head on my mother’s lap, hard-woven teal carpet making dents into my hands and, in warmer weather, the backs of my legs.

  In my other life, in college, I had gotten my nose pierced and formed a band we called ethel g. because it was the nineties. We spelled our band’s name in lower case because we read too much e. e. cummings. The guitar player once came with me to the hospital with his acoustic guitar so we could sing some of our songs for my dad in a private performance he tried to enjoy from his hospital bed.

  But mostly I sat in that waiting room, where nurses sometimes delivered pudding or Jell-O and everyone held containers of coffee. I imagine some of the time we were waiting for my father to emerge from a specific procedure. Other times, we might have just been waiting for him to die. How strange to think if he had died during, say, the Lane Frost movie, we never would have known what was plaguing him. He would have simply passed away, a giant question mark looming over his head. Years would have gone by and we would have remembered our dad as a good dad who had probably picked up an ancient virus on a hike in the deserts of Israel. Or we might have wondered if he had broken something vital after his fall at the top of our steps.

  * * *

  My dad’s unhappy forty-seventh birthday in February of 1994 reflected a life full of deferred answers. My parents spent the early part of the year visiting the Cleveland Clinic and the Mayo Clinic, as well as multiple hospitals in Boston and Columbus.

  Then, one day an answer arrived. It wasn’t neatly packaged like answers are on an episode of House. Its source had never gone to medical school, and usually left lipstick on your cheek after she kissed you hello. The source was my great-aunt Joanie.

  Aunt Joanie was married to my great-uncle Nathan with whom she had two children. When Uncle Nathan died, Aunt Joanie remarried and had a third child. That marriage didn’t last long. She took back her first husband’s name, and also made it the last name of her youngest. Aunt Joanie remained firmly entrenched in our family. She is known for always being one of the first to RSVP yes to family bar and bat mitzvahs and weddings, so it wasn’t surprising that she drove from Yonkers to Boston to visit my father in the hospital. The moment she saw him, she recognized his symptoms. In 1961, Aunt Joanie’s thirty-four-year-old husband, Nathan, died of a three-year illness. She immediately told my father that he had the disease that killed his uncle Nathan. Whether it was because he didn’t believe her or because deep down he already knew, he seemed to ignore the information at first.

  But Aunt Joanie didn’t give up. Although the early winter of 1994 was cold and gray, my aunt got into her little brown Honda and drove herself straight to the National Institutes of Health in Bethesda to collect Uncle Nathan’s now-dusty chart. Her husband had spent close to a year in a hospital bed in the NIH. She knew it well. She had made the journey dozens of times, both alone and sometimes with her small children. The chart wasn’t easy to find. Aunt Joanie had to go back and forth two more times before they handed it over. She drove it to Boston.

  My dad was fighting through another near-fatal infection. Lymphedema makes skin exceedingly prone to infection, since it reduces blood flow to the affected areas; in extreme cases, when the patients are undernourished, the situation is even worse. My dad did not feel well the day his aunt arrived clutching a three-ring binder that contained all the unpleasant details of her young husband’s death.

  He was fourteen when his uncle Nathan died. According to some of my father’s cousins, Nathan had looked terrifying in his dying state. One of his irises had acutely dilated, which caused the lid to droop and finally seal shut. His body swelled with fluid. Late in his illness, Nathan’s small head sat atop a giant, fluid-filled body. He was exhausted and in excruciating pain. All who saw him remembered this time as a nightmare.

  So I could wager a guess that looking at Uncle Nathan’s chart was about the last thing my father wanted to do—especially as his concerned aunt pointed to it, saying, “See? Just like Nathan . . .”

  While she was presenting the chart, someone said, “Tell Joanie to wait in the hall.” So I sat with Aunt Joanie in the hall that day, and she handed me the binder. She was wringing her hands. She felt terrible. I opened the chart to the first page and began to read.

  The parallels were impossible to miss. Chylous ascites—another name for the lymph settled in the gut—and lymphedema, the swelling in the appendages, all “of unknown origin.”

  Unlike the rest of my family, I felt excited reading it. The words described my father’s condition almost to a T. That someone else had had it seemed like a good thing to me. Here at least was some information rather than more of the noninformation that doctors had been giving us. It had never occurred to me how lonely my father’s illness was until that very moment when we were no longer alone.

  My dad and my grandparents received the news coolly. I imagine that their memories of Nathan’s struggles—the isolation and the endless misdiagnoses, the confusion at the end of his short life—overwhelmed them. I imagine that the idea that this condition was hereditary only exacerbated their fears.

  Several weeks later, a second medical chart found its way into the thick of my father’s medical conundrum: his grandmother’s. Uncle Nathan’s mother, Mae.

  Although Mae’s 1955 medical chart was something of a relic when viewed side by side with her grandson’s from 1994, it made one thing certain: the condition my father was fighting to survive had already been seen at least twice before.

  * * *

  Upon realizing that you are going to die—truly internalizing that your physician has just said, “There’s nothing more we can do”—you will likely go through five or so stages of grief until at last you settle into a profound acceptance: now you know how death will come. At least you know the outline of it, the shape it’s going to take. It will look like this cancer or that failing heart or this gene.

  You might handle this news in one of three basic ways. You might ignore it and embrace your denial. In fact, this is the most natural response to death because this is how most of us live our lives. In our day-to-day existence we might occasionally nod and say, “Sure, sure, I know I’m going to die,” but we don’t regard it as fact. It’s less specific than that. Maybe we think beyond it—I will go to heaven. Or we think around it—What will the world be like in the year 3000? But we don’t truly sit with the reality that the death of every single one of us is imminent. When you receive the information revealing how you will die, there is no reason anything should become any different than you’ve always known it to be. You will go to sleep, you will wake up, you will go to work, and you will wonder if maybe you are supposed to be doing something differently.

  But what? What is different about today? Especially if you still feel relatively healthy, why would knowing how you will die suddenly prompt you to take a trip to China or start auditioning for parts in movies? Even with this new knowledge, your life continues to just be your life. At worst, you might take up heavy drinking, or acquiesce to taking those opioid painkillers your doctor is offering; you might sleep more or watch more TV. But all of these accomplish the same goal—ignoring your impending mortality.

  The second way you migh
t handle this news is that you might begin frantically assessing where you stand in your search for meaning. You might begin by making some “I love you” or “I’m sorry” phone calls. You might try to be more present as you sit beside your children watching TV, or hold your husband in bed at night. You might read a few books about God, learn to salsa dance, or organize your files.

  Or, a very human reaction to knowing you are going to die, when it suddenly becomes for realsies, is that you might stand up and go to fucking war. This will be a new kind of war. It’s actually 98 percent bullshit and 2 percent fantastical. That’s okay, because you don’t need fact, reality, or the Second Amendment. You need miracles and Paleo diets, crystals and healing hands. You watch movies where a tumor magically disappears. You follow stories of heretofore unknown treatments. You call universities. You seek out Katie Couric or Ellen DeGeneres to tell the world about it. You gather up every tool, magic wand, and superhero cape you can find and you stand up and fight. It is at once the most rational and the most insane you will ever be. It will bring the most satisfaction and the most heartbreak you will ever endure. You will get the most done in the shortest amount of time, and you will almost certainly die anyway. But you will go down fighting, and everyone around you will call you valiant at your funeral. (If you are watching that funeral from Beyond, you will be flipping them off for saying it.)

  Ideally, whether you have that death diagnosis yet or if you are still blissfully disregarding your certain demise, you should diligently practice all three of the above. You should fight to live long and well, you should experience meaningfulness as often as you can, and the rest of the time you should just ignore death completely.

  When word was given to my father that his condition was so rare he was possibly only its second or third documented case, he plunged himself more deeply than ever into war mode, but medical genetics wasn’t ready for his case yet. In 1994, very few people were capable of fighting genes. There were too few tools. We knew so little. I remember feeling suddenly invigorated. I knew next to nothing about genetics beyond what I had learned in a tenth-grade science class. In the early 1990s, though, it seemed like a field that was developing at breathtaking speed. I wondered if maybe my dad’s case would suddenly blow the field of genetics wide open, now that we knew what we knew. It was clear my great-uncle had sought answers defiantly until his dying day. But that was the 1960s. This was a million years later. We had CDs. We had over fifty television channels. This was the future.

  I felt certain we could use the little that Nathan’s doctors—and even his mother Mae’s—had learned and analyze it in the light of today’s medical innovations. Three cases could certainly tell us all we needed to know in order to save my father.

  My dad wanted to agree with me, but looking at those charts, digging through his family’s horrific past, meant facing fears he hadn’t yet faced. As a doctor, he had a better chance of uncovering the latest available medical practices, but genetic treatments were hardly mainstream in the mid-1990s. His cynicism was earned. It’s possible that on some level, he believed that the jig was up—that maybe it was time to send out baked goods to people he’d pissed off, or needlepoint a meaningful aphorism on a pillowcase. Even if my father wasn’t ready to face that kind of inevitable, he understood something crucial that a lot of people in the mainstream still didn’t completely comprehend, and that frankly I hadn’t really even considered: if this was genetic, then he might not only be fighting for his own life.

  He might be fighting for my life too.

  Five

  In the mid-nineteenth century, Gregor Mendel, an Austrian monk living in the Czech city of Brno, moonlighted as a botanist. He was a round, balding, wire-rimmed-glasses-wearing friar who plodded around a plot of land behind a small parish in the Moravian countryside. He’d grown up on a farm with two sisters and was so desperate to study that, despite a possible lack of interest in divine providence, he joined the Church because it offered a free education. As a monk, Mendel began to tend a garden where he grew pea shoots, among other things. He became curious about the varied colors of pea-shoot flowers. What made one plant’s purple and another’s white? Mendel began to obsessively watch and record how this trait in particular transferred from one generation to the next. Thirty years later, his research posthumously made him the father of genetics.

  There aren’t many good stories about Mendel. He was a man of the cloth who watched and recorded the growth of pea shoots. In addition, he wasn’t too great of a test taker, managing to fail his teaching exams twice, which limited his opportunities to share his wealth of knowledge in his lifetime. In fact, Charles Darwin, a contemporary who allegedly possessed a copy of Mendel’s breakthrough study, Experiments in Plant Hybridization, allowed it to languish unread.

  Mendel’s laws of inheritance or Mendelian inheritance are composed of two theories that became the basic rules of genetics. This boring, exam-failing friar first took two pea-shoot plants he’d bred and grown himself, one purebred with white flowers and the other purebred with purple flowers, and mated them. Would the resulting plant have petals swirled with purple and white? Would they be a light purply mixture of both?

  No. When Mendel bred the purple-flowered plant with the white-flowered plant, the flowers of the second-generation plant were all the very same rich purple as one of its two parent plants.

  When Mendel took two of these second-generation purple-flowered pea shoots—born of one white-flowered and one purple-flowered parent—and bred them together, he made a powerful discovery: one out of four of their offspring yielded a white-flowered plant. The other three had purple flowers.

  Mendel’s theory was simple. Purple flowers were a “dominant” trait because only one parent had to share the information for purple flowers with its offspring for the trait of purple flowers to manifest. Meanwhile, white flowers were “recessive” because both parents had to pass the information for white flowers in order for their offspring to yield white flowers.

  The second theory suggested that this white/purple information was stored in heredity units later called “genes,” and that each of us had two of them for each trait, one from each parent, which later became known as “alleles.”

  Mendel’s ideas led to a scientific breakthrough. By all accounts, his success was wholly deserved. The young scientist had been so desperate to study that even at his most impoverished he refused to give up his research. When things were at their worst, one of his sisters gave him her dowry money in order to keep him fed. Never forgetting his debt, Mendel later put all three of her sons through college and guided them toward promising careers in the sciences.

  As this new area of study expanded, Mendel became one of its earliest luminaries. Those who shared his work with the world lauded it for enriching their own studies. The great botanist, Hugo de Vries, who was the first to suggest the concept of “genes” and “mutations,” conceded that it was only after studying Mendel’s work that he truly understood his own.

  By the 1950s, the American James Watson and the Brit Francis Crick had joined forces at Cambridge University and were awarded the Nobel Prize in Medicine in 1962 after becoming the first to unlock the mysteries of the structure of DNA.

  They used the work of a brilliant young X-ray crystallographer and chemist named Rosalind Franklin. Franklin had produced one of the clearest images of DNA ever developed by shining a light through a single crystal of DNA and then photographing the refracted light. The DNA crystal itself, however, was much too small to see using the available equipment of the 1950s; she could only discern the light refracted onto the wall. Franklin was working with the shadow lights of DNA. She had to obtain the clearest picture of those dancing lights so that molecular biologists like Watson and Crick could work backward from that image and figure out the shape of the crystal that had caused them. Franklin managed to produce the clearest, cleanest picture of one of those shadows ever taken.

  With Franklin’s images, Watson and Crick were able
to prove that DNA looks like a twisting ladder called a “double helix.” The double helix of DNA is composed of four different bases, or nucleotides. They line up, one after the other, over and over, all the while pairing off with the same buddy, over and over.

  These nucleotides are not rungs on the ladder of the double helix, as you might imagine. They are in fact spots running up each of the two side-by-side rails of the ladder—with one nucleotide sitting on, say, the left rail of the ladder with its partner on the opposite rail. The “rung” is made out of those two buddy nucleotides “holding hands.” A series of these pairs (called “base pairs”) makes up a gene. The DNA coils, uncoils, and with the help of RNA becomes a thick roll of DNA—the blueprints of life. Each thick roll of DNA is a chromosome. Another way you might imagine a chromosome is by picturing a Twizzler candy rope (or a Red Vine, depending on your coast) as a bunch of DNA. A single section of that red rope is a gene. The entire rope coiled together is a chromosome. So, a “chromosome” is a cluster of genes that make up the stick of licorice. Humans generally have twenty-three pairs of chromosomes, inheriting one of each pair from each parent.

  DNA—with all of its base pairs that make genes, and genes that make chromosomes—lives in essentially every single cell in a person, a fish, a tulip, a bacterium, and all other living things. The DNA in each cell is always identical to the DNA in every other cell of that thing. The job of DNA is to be informative. It doesn’t have to be a snappy dresser or dance well. It’s the stodgy egghead of the cell, simply being the rules and regulations of the “you” the cell is making. It doesn’t actually do anything. It isn’t creative or wily. It just makes copies of itself and makes something called RNA—which differs from DNA only slightly in that RNA copies itself and proteins. Something called a ribosome reads the RNA made by DNA and then does all the interesting stuff—like making the human. DNA is essentially an instruction manual that the RNA reads out loud to a ribosome that does the stringing together of amino acids to build the thing the instruction manual DNA relays. When you think about it, DNA is so fundamental that the next logical questions are: Who told the DNA the rules? Who wrote the manual?