The Family Gene

by Joselin Linder

  Mamie, he decided, would make a good wife to bring home to Pittsfield. There was little in the way of courtship—a few letters, a few visits—but soon the two became engaged.

  Mamie and Rabbi Morris were a part of a new generation in a new world, where people were no longer forced into arranged marriages like their parents. With her fiancé’s blessing, Mamie changed her name to Mae, which she felt sounded more dignified and better suited to the fiancée of a rabbi. She and Rabbi Morris were married in her hometown of Brooklyn. She followed her husband to Pittsfield, where she took her place in the congregation as the rabbi’s wife—a position of honor.

  Their early years were happy ones. Mae’s first child was a girl. The birth certificate read Sarah Beila, but they called her Shirley. A year later, Norma was born, followed by Nathan and Harry. During one of those pregnancies, Mae’s ankles began to swell, although for her, this was little cause for concern. Her mother’s ankles had also become swollen during a pregnancy, and had remained swollen ever after.

  Mae gave birth to her last child, Joseph, whom everyone called Yussy ten years after Shirley. Mae doted on her children. In her household, she followed her husband’s many rules and customs. She kept kosher, she dressed in compliance with the customary modest code, she disciplined her children, and she made their clothing so that they were admired, sitting well behaved in a row every Friday night and again Saturday morning at the well-attended services led by Rabbi Morris. No one at those services could look on that family without agreeing that they were blessed.

  I like to picture Mae holding baby Yussy. A ten-year-old Shirley with a bow in her hair, glasses on her pretty face just above the two pronounced dimples in her cheeks. She’s kicking her nine-year-old sister, Norma, for pinching her. Norma, Shirley thinks, is the pretty one. She has big bright blue eyes and dark brown curls. They are sitting with the women in the noisy balcony seats. Chatter here is normal, above the humming and monotonal mumbling of the prayers being recited below. Nathan and Harry are down with the men because their father wishes them to be there, although they are only eight and six years old, respectively. Harry is bored but Nathan knows to shush him or take him back to their mother if he becomes too restless. They are quiet boys most of the time, and obedient, singing along with the prayers that, despite their age, are familiar to them from years of study and repetition. The family walks home together, or perhaps Rabbi Morris comes along later. They are laughing, skipping, and playing, spending that Saturday, like every Saturday, together.

  * * *

  I didn’t know Mae. Her eldest child was my grandmother Shirley, whom I knew very well. I called her every day and went to visit her twice a year in Phoenix. When she could, she came to visit me. She told me once that Mae was already the mother of five children the morning her right arm doubled in girth from hand to shoulder.

  Shirley was only twelve the day her mother’s arm swelled. When I pressed her about her mother’s illness, she could easily recall the swollen arm, but not the minutiae of what came after. Because Mae probably just wrapped her arm in a cold towel without much fuss, there may not have been much to remember.

  Mae’s swollen arm, unbeknownst to anyone, signaled the beginning of a harrowing, if slow-moving, fight for her life as her health mysteriously began to deteriorate. Her doctors did what little they could to ease her earliest symptoms. Her swollen arm was a nuisance and a physical disfigurement, but it wasn’t life-threatening. One doctor sent her home with a manual pump she’d wrap around her arm, utilizing air pressure from the pump like a massage to keep the fluid loose. Mae used it for many years before she went to bed at night.

  Meanwhile, Mae’s other tests continued to come back normal. But when, three years later, her breathing became labored due to pleural effusions—leakage of fluid, much like in my father’s case, into her lungs—all bets were off. Mae was thirty-eight years old. Her children ranged in age from four to fourteen. Not being able to breathe wasn’t an option. At the hospital, doctors were able to successfully drain off some of the fluid that had settled into her chest, taking some of the pressure off her lungs. This manual procedure, which predated the mechanized tapping that was used on my father, was also called a “thoracentesis” or “pleural tap.” In the 1930s, when Mae first underwent it, the procedure required a small incision between the ribs through which a rubber hose was inserted into the chest wall, where it channeled out the fluid under the force of its own pressure. By also employing manual pumps, the doctors slowly drained out the fluid.

  The first time Mae was tapped, she watched as an alarmed and confused medical team extracted about fifty milliliters of lemon-meringue-yellow lymphatic exudate—or chyle—from her chest. No one knew where the fluid had come from, but Mae’s doctors did charge forward with a few ideas about what might be causing her labored breathing. Rudimentary treatments for breathing conditions pioneered during the Great Depression typically had only limited success in helping to ease discomfort, but protected the general population from catching some of the viral and germ-based respiratory illnesses of the day, most typically tuberculosis, an infectious bacterial disease usually occurring in the lungs. Small quarantined colonies for the infirm were set up on hospital grounds. “Fresh air” was the unofficial prescription. Hordes of sick people were often herded into large tents and ordered to simply inhale and exhale.

  At this point, Mae had been officially diagnosed with pleurisy, a condition in which a series of membranes covering the lungs, called “pleura,” become inflamed. It is a symptom of tuberculosis (TB), which in the 1930s often proved fatal. By 1938, doctors at Mount Sinai Hospital in New York had tested Mae’s fluid for bacteria and ruled out TB. What they knew was that her lungs were filling with chyle, and they had to do something to drain it off.

  Because Mae’s symptoms did not point to TB—the swelling in her limbs, the swollen belly, and the breathing complications that were not in the least bit contagious—her condition did not fit any known malady. To treat her, the doctors decided to follow the same protocol they used for other breathing disorders of the day: Mae would sleep outside and live in relative seclusion.

  * * *

  One day two years after she woke up with a swollen arm, Mae and her husband took their oldest child, fourteen-year-old Shirley, for a walk, leaving the other kids at home. They told Shirley that her mother was going to go away for a while to a hospital to help her breathe.

  Mae was sent to Coolidge Memorial Hospital on the southwest side of Pittsfield, twenty miles from the family’s home. Patients with tuberculosis, contagious and otherwise, lived in tents about half a mile downhill from the main building, where Mae took up sleeping quarters on a beautiful wraparound screened-in porch with three to four other patients, all TB patients undergoing treatment.* There, she was cared for by a kind staff.

  * * *

  Mae spent six months convalescing on that porch, followed by years in and out of Mount Sinai Hospital in New York, a hundred and fifty miles away from her home and family. Meanwhile, Shirley grew into the caretaker of her household. She cooked, which she says came naturally—“I was born just knowing”—helped to raise her three younger brothers, and fought for power with her one-year-younger sister.

  At the time of Mae’s stays at the hospital, her family did not own a car and relied on friends and neighbors to take them to see her. Her children were young when her infirmary stays began—Shirley, fourteen; Norma, thirteen; Nathan, eleven; Harry, nine; and Yussy, four. Their visits were infrequent and rarely long enough.

  When Mae was released from Coolidge Memorial, her condition had stabilized. She began visiting Mount Sinai Hospital in New York City, undergoing exploratory procedures to seek out the cause of the fluid that was steadily, if slowly, increasing. She stayed for weeks at a time with her parents in Brooklyn, a four-hour journey by train from the Berkshires. On several of these occasions she brought Yussy, her youngest. Mostly Yussy was left in the care of his grandmother or one of his sisters.


  Ten years after the appearance of her first symptoms, when her oldest children were married with children of their own, Mae began undergoing radiation treatments in a “we’ll try everything even if we don’t know what we’re treating” sort of spirit. Radiation treatments were the conventional recommendation for many life-threatening illnesses. In order to receive the treatment, Mae walked to Pittsfield General Hospital, often with Rabbi Morris, Shirley, or Norma, who helped out on her visits home from New Jersey. After the treatments, Mae usually threw up in the street—a side effect of the radiation.

  * * *

  By 1955, nearly twenty years after Mae woke up to that swollen right arm, the accumulation of fluid in her body had become unbearable. She underwent repeated tapping procedures to extract as much of it as possible, but by midsummer, the tissue around her lungs had become so scarred that the fluid was unreachable. Shirley, by now a mother of three and living with her in-laws, helped out when she could. When her father instructed her to accompany her mother to see yet another specialist, this time across the state in Boston, she reluctantly agreed, feeling as she did that it was her father’s responsibility to accompany his wife to the appointment. But Shirley was not the only family member whom Mae’s protracted illness was making into a martyr.

  Decisions about Mae’s treatment were left to a reluctant Shirley. A doctor at the Pratt Diagnostic Center wanted to put her broken body through a deeply invasive procedure called a “thoracotomy.” He told Mae and Shirley that her chance for survival was fifty-fifty. A thoracotomy involves a chest and abdominal incision that opens up the skin, muscle, and rib cage in order to gain access to the patient’s heart and lungs. Cutting open skin that is riddled with lymph is always dangerous. Even a small, everyday cut can easily become infected, so larger, more prominent incisions risk deadly infections. In a woman whose body was already in a weakened state, it’s likely Mae’s chances were far worse than fifty-fifty. But the Pratt doctor was the only one with a plan. And Mae couldn’t breathe, so she couldn’t afford to be choosy.

  Shirley gave the okay for the operation, which was performed at Albany Hospital on August 22, 1955. Her father joined her in the hospital waiting room during the five-hour procedure. Immediately following the surgery, the incision the doctor had made began to fester. Over the next two weeks, Mae’s condition remained touch and go. Finally, on September 9, 1955, she died. The infected thoracotomy scar on the left side of her chest noted in the report was listed as the primary cause of death—although the gross quantities of lymphedema in every region of her body were cited as a contributing factor. She was fifty-five years old.

  In the coming years, when people asked how Mae had died, the answer, if it didn’t involve shrugged shoulders and blank faces, usually referenced her first diagnosis of pleurisy. Something had made it hard for her to breathe, her family explained. She died because, for nearly two decades, she couldn’t really breathe. It was a true, if vague, explanation.

  Over seventeen years, Mae endured debilitating bouts of breathlessness and exhaustion, not to mention painful and disfiguring swelling. But she did continue to live for those seventeen years. She got to meet eight of her twelve grandchildren. There is no shortage of black-and-white photographs showing her lovingly holding Billy, her oldest grandchild. She was able to watch him grow into a little boy. But she never once imagined that the flaws in her own body would become the tragic legacy that would bind them together.

  Eight

  The story of my great-grandmother Mae’s illness proved to be of value to Dr. Kricket because the swelling and bouts of lymphatic buildup mirrored the symptoms of my father. But beyond those, any similarities between Mae and her grandson were superficial at best. The similarities between Mae’s son Nathan and her grandson, however . . . now, there was a compelling comparison.

  Nathan was, for all intents and purposes, a healthy twenty-eight-year-old in 1955 when Mae died. He was already engaged to Aunt Joanie. The family liked Joan because she brought out a little levity and rebellion in their serious brother. Once, Joan got Nathan to smoke a cigarette, which particularly impressed my grandmother. Their wedding took place weeks after Mae’s funeral; they agreed it would be bad luck to cancel.

  A year passed, during which Joan gave birth to a son, Michael. In early March of 1958, he was two and Joan was about to give birth to a second child when Nathan scheduled an appointment with an ophthalmologist for a little itching in his right eye and a sensitivity to light. The ophthalmologist noted a dilated pupil and suggested Nathan look at photos of himself in order to determine how recently it had occurred. Once they determined that the dilation was recent, Nathan visited his family physician, who heard wheezing when he listened to Nathan’s chest with a stethoscope. Nathan simply hadn’t noticed it, and to the doctor’s mind, checking Nathan’s lungs had been nothing more than a routine part of a visit for an itchy eye. The doctor scheduled an X-ray that revealed the wheezing to be a more critical problem. Nathan had pleural effusions, fluid in his lungs, and this didn’t seem to have anything to do with his dilated pupil. On March 28, 1958, he was admitted to Montefiore Hospital in the Bronx. Across town, Joan was alone, giving birth to their daughter.

  Nathan was first tapped during that hospital stay, but while he was there, another strange thing happened. His pupil continued to dilate. His eyelid started to droop to protect itself from the light, and then the eyeball itself rotated upward. In the same way that my father’s medical notes consistently referred back to his childhood heart-valve anomaly, henceforth every medical note would begin by commenting on Nathan’s eyelid, which permanently sealed shut, his eyeball bulging beneath the taut skin. To a large degree, the eyeball mystery became the primary differentiator between his mother’s and his own physical breakdown.

  The fluid that was tapped out of Nathan’s lungs in the early stages of his illness yielded no diagnostic answers. The doctors referred to it as “chylous fluid of no clear etiology”—just as they had referred to his mother’s condition. However, after early testing in November of 1958, one doctor suggested that the fluid present in Nathan might not be chyle, an opinion that was later supported by the fact that there was no obstruction of his thoracic duct, where the lymphatic system meets the vascular system. No other doctor could suggest what else might have caused the fluid buildup. It was chyle, leaking for no reason. Nathan’s primary organs were healthy, there was no discernible cancer, yet his body was growing increasingly bloated with chyle. Unlike his mother, whose complications emerged slowly over decades, Nathan, in less than a year, was finding his trousers tightening under the strain of visible abdominal swelling.

  Nathan went home and met the baby girl they named Phyllis, but the battle for his life was just beginning.

  * * *

  There still wasn’t enough information to prove that Nathan had a genetic illness. At the time, researchers and doctors didn’t often discuss genes outside of academic and clinical environments. Still, Nathan’s condition seemed obviously, if distantly, related to his mother’s. So when he first became ill, his wife, Joan, made sure to dig up as many of Mae’s medical files as she could to share with the multiple professionals seeing her husband. Joan and Nathan wanted answers. If they couldn’t get those, they at least wanted treatments.

  There are almost always treatments for monogenic illnesses, or illnesses brought about by the flawed information in a single gene. Although these treatments remain largely ineffective in the long (and sometimes even short) term, they are typically administered to desperate patients. Consider for a moment that you had to fight with your body to pump your blood correctly or produce a different enzyme than the one it thinks it is supposed to produce. What if every single cell in your body holds this “incorrect” information? It’s like an already-built building that requires the replacement of every single brick, or else the whole building will fall. Where do you begin?

  In 1971, a little girl was born to a young couple in Westport, Connecticut. Twelve years later,
three years after that little girl lost her life to a grisly genetic condition called cystic fibrosis (CF), her father, a successful sports writer named Frank Deford, published a brief but beautiful biography of the girl in Alex: The Life of a Child. When I was thirteen, I read the book, having checked it out of the library because I was drawn to the picture of the cute little girl on its yellow cover. I related to the vibrant life chronicled in those pages. Alex would have been four years older than me had she lived. She would have been two years older than my sister.

  Deford writes about how his new baby, his second child—the little girl he and his wife had hoped for—never really thrived. By her fourth month, it seemed like Alex was always sick. Eventually, her doctors recommended a sweat test. The principal diagnostic tool for cystic fibrosis, sweat tests measure a person’s chloride levels. A person suffering from cystic fibrosis experiences elevated chloride in the sweat glands coupled with mild to severe respiratory illnesses.

  To put it crudely and very primitively, cystic fibrosis involves the secretion of thick mucus that, in addition to a host of other brutal developments, clogs respiratory pathways and makes it difficult and sometimes impossible to breathe. In the 1970s, as is the case today, there was no way to instruct the body to stop producing this mucus. There was no miraculous treatment to clear or thin the mucus either. Doctors instructed parents* to follow the standard treatment for a chest cold, and ratchet it up. In short, the pot of boiling water stuffy-nosed people had been sticking their faces over for generations became a high-flow humidifier complete with face mask. But that was hardly the worst of it. Remember how people clap their fists against their chests to clear out a frog in the throat? That maneuver became an aggressive and often minutes-long chest clapping, or “percussion.” Doctors and parents performed this kind of physical therapy multiple times a day on children as young as several months.