The Family Gene

by Joselin Linder

  During his X-ray, the doctor saw something alarming. My father had what medical professionals call “pleural effusions”: fluid in his lungs. Kim stood beside him during a procedure in which doctors removed the fluid by sucking it out through a tube placed into an incision leading directly into the lungs. The process is called “tapping”—as in maple syrup from a tree—and it’s about as crude. What’s worse, the patient is kept awake and conscious the entire time. Kim held my dad’s hand. Both were terrified.

  The doctor extracted almost a liter of a fluid the color of lemon meringue pie. Kim had never seen anything like it, and she’d been a nurse for more than twenty years.

  “What the hell is that?” she asked.

  My dad and the attending were both at a total loss.

  Kim said all she could think was that he’d caught something on our Israel trip even though more than a year had already passed, perhaps because to Kim it seemed like his health had been on the decline ever since.

  We later learned that what came out of his lungs that day was “lymphocytic exudate,” or “chylous fluid”—a sticky, milky substance made up of lymph, emulsified fats, protein, and sometimes cells. It is also referred to by its perky nickname “chyle.” Lymphatic fluid of any type should not ever leak into the lungs. It does, from time to time, but almost exclusively in extreme cases of heart disease, liver failure, and certain types of cancer (most typically ones that cause heart disease or liver failure). Consistency-wise, the fluid is saucelike, and when it’s in the lungs, it can make it very difficult to breathe. Most importantly, the presence of chylous fluid outside the lymphatic system of a healthy forty-five-year-old man is almost completely impossible to account for.

  Jackie, who had sat alone in the waiting room, drove my father home that night and helped him to bed.

  * * *

  The morning after his harrowing visit to the ER, my dad called me into the living room. Sunlight streamed in through the sliding-glass doors that led to our backyard.

  My father looked scared.

  “I want your mother,” he said. “I’m sick.”

  “Sick with what?” I asked.

  “I don’t know,” he replied. And although it wasn’t something I would readily recognize in my father, I thought I could see tears welling up.

  “Well,” I ventured, “how do you know you’re sick?”

  He didn’t seem sick. He hadn’t been acting sick. As far as I knew, he’d never even had a cold. He didn’t answer me.

  I have no idea where I had been that night. Maybe sitting with my friends at a Denny’s with a bottomless hot chocolate and a pack of Marlboro Lights. My dad and I sat together on that bright sunny morning trying not to meet each other’s eyes.

  Soon I rose and went into the kitchen, where my mom had left the number for the fat camp on the counter. I called it and I told her to come home.

  Three

  Out of the gate, it seemed obvious to my father and his medical team that his problems had something to do with his heart. He bounced from cardiologist to cardiologist, even seeking out doctors who might still be living who could recall his childhood surgery. A link seemed inevitable since the buildup of chylous fluid could be symptomatic of serious heart disease, and my father bore a scar from neck to navel. In those first months following the ER visit, he immediately delved into that childhood illness, looking deep into his past to see if he and his medical team could cobble together some kind of correlation.

  My dad was born and raised in Pittsfield, Massachusetts. Situated in the Berkshire Mountains of western Massachusetts, it’s a fifteen-minute drive up Route 7 from Stockbridge, where Norman Rockwell lived and died.

  According to my grandmother, my dad was born at Pittsfield’s only hospital five weeks early. There, she couldn’t produce enough milk for her preemie. Pressure from the doctors made her anxious. Another new mother on the ward offered to nurse her baby for her. Quickly my dad began to thrive.

  Other than those first few stressful days, his early childhood was unremarkable. My dad was a playful, energetic boy. When his brother, Norman, was born, my dad was an active toddler. Two years later, Kathy came along.

  Pittsfield had one high school, one library, a Friendly’s restaurant, two gas stations, and a converted covered wagon serving popcorn to eager children on weekend strolls through Park Square. My parents were among those children, each growing up with their family on a street called Robbins Avenue, in houses catty-corner to one another. My mother, two years older than my father, recalls pushing him in his stroller down the block their houses shared.

  My dad’s family lived with his paternal grandparents on a small dairy farm just a few blocks from everyone in their family. My father’s maternal grandparents lived across the street.

  He grew to his full six feet four inches while still in high school. Athletic and strong, he would have been a shoo-in for the basketball team at Pittsfield High, but he had never been allowed to play. That’s because when he was twelve years old, he had undergone one of the nation’s very first open-heart surgeries.

  When he was born, my dad had been diagnosed with a somewhat common congenital heart defect called “pulmonary valve stenosis.” Pulmonary valve stenosis involves a narrowing in the valve that connects the right ventricle—one of the four chambers of the heart: right and left atria on top and right and left ventricles below—to the pulmonary artery that carries blood to the lungs to pick up a load of oxygen. This narrowing causes what my father had always described as a sticky flap. The sticky flap in turn leads to a heart murmur.

  A heart murmur isn’t one specific thing. In fact it’s actually just a sound—the sound of the heart doing something extra or different. Instead of a heartbeat sounding like this—buh-bum—it might sound like buh-ss-bum or bup-hh-bum. It’s an indistinct sound within a heartbeat. And it doesn’t mean any one specific thing either. Typically heart murmurs indicate a problem with blood flow either through or in or out of the heart, which, as the pump that keeps our literal lifeblood moving, could be alarming. But a lot of heart murmurs become classified as “functional” or “innocent” in that they don’t represent an immediate cause for alarm and might even remain harmless for a lifetime.

  It’s impossible to say whether or not my father’s murmur would have ultimately proved functional, or if the sound his doctors heard indicated a truly troubling condition. It wasn’t uncommon for functional murmurs to be treated aggressively, since the alternative might prove fatal.

  My dad’s murmur probably included an extra sound in the middle of his heartbeat; a whoosh of air indicating trouble. As a result, he was sidelined from sports, which, for an active, competitive child, was a real drag. Otherwise, his murmur impacted very little in his first twelve years. My dad never felt sick or unwell. He simply had to avoid play that could lead to overexertion, and then, frankly, only when someone was there to stop him.

  But the doctors maintained that my father’s overall health made him a great candidate for a brand-new procedure that could unstick his sticky valve. In 1959, when he was twelve years old, his parents drove him from their home to Boston’s City Hospital for open-heart surgery.

  In addition to other kinds of rapid technological growth linked to World War II, a severe need for medical advancement encouraged the creation of improved techniques for health care. Modern surgery stood to profit from such new developments as anesthesia, antibiotics, and transfusions. As war raged around him, a young army surgeon named Dr. Dwight Harken found himself tasked with figuring out a way to save the many young servicemen arriving in his infirmary with shrapnel lodged in their hearts. On animals, he began practicing a technique for cutting into beating hearts and working his fingers around the chambers in order to dig out trapped bullet casings and shell fragments. He worked steadily until his success rate was around 65 percent, then he tried it out on a man. With the success of that procedure, he learned that the human heart could be cut and manipulated and continue to beat.

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p; Once the war was over, doctors began to wonder if Harken’s technique might be applicable to other fatal or dangerous heart conditions not found on battlefields, especially congenital heart defects in children. In 1948, Harken was one of the first surgeons to report a procedure in which he corrected a condition called “mitral stenosis,” a narrowing of the mitral valve that passes blood between chambers of the heart—like a door between your living room and the kitchen that just doesn’t open wide enough to fit your hungry guests through it at Thanksgiving. Using an identical technique to the one he had used to dislodge shrapnel, Harken cut a small hole in the heart big enough to insert a finger to manually widen the valve.

  Eleven years later, my father’s heart was similarly accessed through an incision that began just above his belly button and ended just below his neck. I suspect ten-year-old Norman and eight-year-old Kathy were left with their grandparents. I imagine my grandmother Shirley sat in the waiting room rubbing her hands together the way she always did when she was nervous. My World War II veteran grandfather, Milton, although also nervous, remained stoic. My dad, twelve-year-old Billy, was tall for his age, but still looked like the child he was. Dressed in a hospital gown, he was wheeled on a gurney into surgery. Soon he became one of the hospital’s very first successful open-heart-surgery patients.

  The first procedure didn’t work, although my father recovered well. So, in 1962, he had to undergo a second operation. This time, slight improvements were achieved, and the valve separating the right ventricle and the pulmonary artery could open a bit wider than it could before. All in all, the procedure was cautiously considered a success. Every ten years my father returned to Boston for stress tests and follow-ups. His health remained good. Meanwhile, he wore his scar, lifelong, with great pride.

  * * *

  It was this one thing—this childhood surgery—that my father continued to come back to as he grew progressively sicker. For one thing, he had lived with that zipperlike red scar as a visual reminder of it for thirty-two years. Now the yellow fluid in his legs and lungs was increasing. The slight ankle swelling he’d shared with his mother and aunt rapidly surpassed theirs, spreading up his legs, filling his torso and, at times, his face and hands.

  With each passing day, it seemed my dad was filling up faster and in more places. His decline was swift. Immediately following his first trip to the ER, he had canceled a family trip to Key West we were supposed to take during Hilary’s Christmas vacation. My parents had gone to that Florida island several times, and my father had wanted to show it to us. We optimistically declared that the Key West trip was simply on hold. We would go when his health stabilized. Right then, we focused our energy on helping him to get better.

  At forty-five years old, my dad stopped playing softball. He’d been a pitcher for years on his beloved amateur softball team, playing against other local businesses. He was still playing bass and singing with the band he’d put together with his friends, at practices and at the few small private shows they occasionally organized. But at their last show he’d looked so weak and gaunt behind his guitar, it no longer felt very rock and roll.

  My father’s primary-care physician was at a loss to explain what was plaguing my father. The wayward fluid indicated that something important was going wrong, but with each subsequent test, the answer continued to elude him.

  My father was leaking lymphocytic exudate, chyle. The main problem is, if you are leaking protein and fat, you are not digesting them. Your body begins starving.

  My father kept a medical journal. In it, he was careful and deliberate in trying to nail down the underlying cause for his ailments. In an entry from this time, he writes that he is “exhausted walking up a flight of stairs.” He also notes that his worst-case scenario would be “an inability to gain weight.”

  * * *

  Lymphedema was not, in and of itself, a diagnosis. Lymphedema, or the leakage of lymph from the lymphatics, is much more typically a symptom. Like a runny nose is a symptom of a cold, or like being out of breath is a symptom of running a mile as fast as you can. There are hardly any known conditions that involve the spontaneous leakage of chyle.

  The lymphatic system is a part of our tissue, living outside of the vessels that make up our veins and arteries. The lymphatics collect or absorb whatever gets accidentally left behind as our blood courses through our blood vessels. Things like protein, random fluids, and even blood cells regularly slip out of our blood vessels as our blood flows. If the lymphatics don’t collect them, we swell. If they can’t collect them fast enough, we swell.

  When people wake up in the morning with a full bladder, even if they haven’t had a single thing to drink since they used the bathroom right before bed, it’s because while they slept, the lymphatics had snatched up all that wayward fluid dropped by their blood vessels and directed it to their kidneys.

  So my father’s lymphedema (a term that means “lymph accumulation”) should have been caused by something. But nothing seemed to be causing it. Even worse, when lymph does leak out of the lymphatic channels, for example in someone with heart or liver disease, there is no strong consensus in the medical community about why. And there aren’t many ways to deal with it when it does leak.

  Meanwhile, my father’s heart was postsurgically near-perfect. The tissue was healthy. The beats were strong. There was no blockage in the thoracic duct, a main channel of the lymphatic system where digestion occurs between veins and lymphatic channels. And still, no one could find anything to explain any of his symptoms.

  * * *

  Another year passed and my father’s swelling accelerated. The clinical term for his ailment went from “chronic lymphedema” to “massive ascites.” Massive ascites is the result of chyle settling into the soft tissue of the abdominal cavity, surrounding the organs, and pushing out the gut to make room. My dad developed a hard and heavy bowling-ball-like gut that is common in people with extreme liver failure. He had breezed by a potential liver-failure diagnosis early on. A liver biopsy showed that his liver tissue was pristine for a man in his forties. As each possible cause of this extreme fluid leak was crossed off the list, my father was becoming more desperate.

  My dad was the kind of compassionate doctor who always delivered scary news to his patients with a decidedly comforting addendum. “At least it’s something we’ve seen before,” he’d say. “The odds might not be great, but at least there are odds. Someone has survived this.” His doctor could not offer our family the same soothing reassurance, and my father knew it. But somehow he remained steadfast, even at times upbeat. Having no diagnosis simply meant that we had to keep plugging away until we got one. If there was nothing new from where my dad stood in the midst of his current dire condition, maybe the answer was buried somewhere in his past. Maybe it was back with his twelve-year-old self, lying on a hospital gurney at Boston City Hospital with a finger opening up his heart valve.

  * * *

  My parents began taking trips to Boston, where I was newly enrolled as a freshman at nearby Tufts University. There my father began to see Dr. Michael Landzberg, a heart specialist who mostly works with children with congenital heart defects. Too old to be a patient at Children’s Hospital, where Dr. Landzberg was on staff, my father sometimes checked into the nearby Brigham and Women’s Hospital—affectionately called “the Brigham”—for testing. Other times he and my mother stayed at area hotels.

  On the few trips my dad flew in alone for testing, Dr. Landzberg invited him to stay in his family’s guest room. The relationship between my dad and his doctors often blurred the lines between friend and patient, in part because they shared a profession and a love of medicine.

  Dr. Landzberg devoted himself to studying my father’s case, realizing quickly that his illness didn’t quite fit any known syndrome in the medical canon. He and my father agreed to aggressively seek answers. This meant asking my dad to undergo invasive procedures that as often as not weakened him but yielded few, if any, results.

  Wit
h each passing visit, it became increasingly difficult for my dad to accept that maybe they would never find a diagnosis. His illness was getting worse and he was feeling worse. As it progressed, testing itself had become challenging.

  One thing was growing increasingly clear, however. The problem wasn’t his heart.

  Four

  Back in Boston for more tests, my dad was full of ports and plugs and holes. He and my mother had come to stay at the Children’s Hospital Holiday Inn, which was the most depressing place in the world.

  The thing about the Boston Children’s Hospital Holiday Inn in 1994 was that it wasn’t even trying to pretend it was not the most depressing place in the world. Nestled as it was between the high buildings of the Longwood Medical and Academic Area in Boston, not a speck of sunlight shone through its windows. The decor was brown and mauve with tan and gray-green overtones. The furniture and thick heavy curtains that covered views of brick walls bore the signature muddy tones of the 1970s as well as the flammable polyester of that era.

  In one of these hotel rooms, a bath, of all things, almost killed my father. My mother filled up the tub for him and helped him lower his bruised and broken body into the warm soothing water. Methicillin-resistant Staphylococcus aureus poured into his open wounds and invaded his bloodstream. A staph infection. Those little party animals banded together and clotted the blood into all kinds of clever formations that even penicillin or its derivatives couldn’t unravel. Overnight, he began running a fever as his body’s vital signs steadily weakened. Dr. Landzberg had my father admitted to the Brigham, where he underwent surgery to try to contain the infection. But soon his fatigued body, swollen and raw, was failing in earnest. For the first time, my father was put into the ICU. His prognosis was dire.