Blood Matters Read online

  “So, early onset.” Lynch took a quick breath. The audience was riveted: They were having a consult with the biggest name in hereditary cancers, and he was pulling no punches. “Now, bilateral. That simply means both breasts. In this hereditary variety both breasts are at high risk. Now, what does that mean? Well, if I have a patient with a BRCA1 gene and she has cancer of, say, right breast, I’ll talk to her about the opposite breast.” That may have been a stock joke, but he laughed and the family reunion laughed along with him. “They need to know that the risk to the opposite breast is very high. They need to know the limitations of mammography. Mammography is not a perfect science like physics and mathematics. They miss lesions and then you go back and say, ‘Here it was.’ Because we are dealing with shadows, and maybe that shadow was a significant one in retrospect. So, given those factors, women may need to make a decision: Should both breasts with the whole nipple be sacrificed by prophylactic mastectomy?” Lynch was on to his main point now. He made the case for prophylactic mastectomies and oophorectomies. He stopped just short of saying, “You need to do this.” Indeed, what he said was, “I am not going to say, ‘You need to do this.’ But it’s something that the woman should consider, knowing the risk, and the risk for breast cancer over your lifetime approaches 80 to 85 percent.”

  It would be silly for Lynch, who pioneered the idea of prophylactic surgery for hereditary cancer, to pretend not to have an opinion. He told me once he hounded a patient for a couple of years until the man finally decided to have his stomach out. The man had since become something of a proselytizer for the surgery, so he agreed to talk to me on the phone.

  ***

  I called Larry in St. Cloud, Minnesota. Here was another rolling Midwestern voice. He told me about the family holidays of the years 1994 to 1995. First, there was Holy Thursday. That was the day Larry’s oldest brother, then aged forty-four, was diagnosed with stomach cancer. He said the doctors were surprised, explaining to him that it was “an old man’s disease.”

  “They were just going to remove a fifty-cent piece,” said Larry. “When they opened him up, they took out a four-by-six-inch piece.” He had a very difficult time recovering from the surgery, and just as he was getting back on his feet, he was diagnosed with a recurrence of the stomach cancer. He died six months later, in October 1995.

  But before that, there had been Thanksgiving 1994, celebrated at Larry’s sister’s house. She cooked the dinner but was not eating any of it: She said she had a stomach flu—the latest in a series of stomach bugs over the past few months. Her diagnosis of stomach cancer came a few days later. “They knew right away that it had already progressed into other parts of her body and it was just a matter of time.” She was thirty-nine years old, and her five kids ranged in age from ten to seventeen. She lasted just past her second daughter’s high school graduation in June 1995.

  Larry’s other brother phoned on Halloween night, 1995. “He said, ‘Guess what? I’ve just been diagnosed with stomach cancer!’ I said, ‘You are kidding!’ He said, ‘No, but I’m going to beat it.’” After watching his siblings’ excruciating and ineffectual surgeries and chemotherapy, this brother decided to seek alternative treatment in Mexico. He went through what Larry described as “some food-cleansing program,” came back feeling little better, and decided to have surgery. “They opened him up and closed him back up again.” He was dead in March, at the age of forty-three.

  In the space of a year and a half, Larry had lost three of his four siblings, all under the age of forty-five, to a disease he had never really heard of. He called the American Cancer Society and told his story. He got the phone number for Dr. Lynch’s lab at Creighton University in Nebraska. In 1996 Larry, his parents, and the one remaining sister had their blood drawn. “We had pretty much ruled out environment,” he explained. “One brother, when we were growing up, spent a lot of time with an aunt and uncle on their farm, because our parents were having a hard time financially. And then we all lived in different states.” The odd thing about this particular hereditary cancer, however, was that Larry’s parents, one of whom must have passed on the gene, were both alive and healthy. Lynch’s lab identified the gene that caused the stomach cancer. Larry’s mother carried it, as did Larry. What made them different from Larry’s two brothers and sister, why they had not developed the cancer—and whether Larry’s good luck would last as long as his mother’s—the lab could not say.

  In the spring of 1999 Lynch held his trademark family information service for more than fifty people from Larry’s family. What doctors enticingly call “the pedigree” continued to expand, and in 2002 Lynch traveled to Minnesota again, for another of his sessions. “Some new, younger cousins showed up,” said Larry. People got tested. Larry did not know how many of the cousins turned out to have inherited the gene. His sister tested negative, which left him alone with his dilemma.

  When Lynch first brought up the possibility of preventive surgery, Larry “didn’t give it a second thought.” The famous doctor did not insist exactly: He persisted. He called Larry roughly every six months, to make sure the idea never quite left his mind. “He called me and e-mailed me in 2002 and told me he had just come back from Portugal, from a meeting of international doctors, and at that time a group of doctors had concluded that this surgery was very good at preventing the cancer. And he said, ‘You are young, you’ve got children, I strongly recommend that you have the surgery.’ And he went on and on, and I said, ‘Doc, let me think about this.’ And then the wife and I went on some long walks. And I would wake up and have a stomachache and then think.” Larry paused. “Mentally, it was a heavy burden on me.”

  The surgeons took out Larry’s stomach, an inch of his intestine, and an inch of his colon, to make sure no stomach tissue was left behind to develop cancer. He went back to work as a supervisor with the highway department three months later. Life changed, of course: “Well, I got to eat small meals. Today I went grocery shopping and I had a cup of coffee and a roll, and I’m full.” Restaurant meals were out, as was drinking and eating at the same time: there was not room for both solids and liquids. To keep himself hydrated, Larry now had to sip water throughout the day. He lost about 40 pounds following the operation: going down from a not overly impressive 190 pounds to a very slim 150. “I put sandbags in my pockets on windy days,” he joked. Hey, he was still around to joke about it. “I basically told my relatives that Dr. Lynch basically saved my life by finding the gene and talking me into surgery. I’d say in the next ten years I’ll have a lot of nieces and nephews that will have this done.”

  They would not be the first to forgo their stomachs as a family. The largest family group to go for surgery counts eleven cousins—all of whom tested positive for the mutation in that generation of the family. Before scheduling his operation, Larry corresponded with a woman who had had the surgery done at the same time as her brother and several cousins, “and she said it was the best thing that ever happened to her.” Larry showed the woman’s message to his father when he told him of his decision: “He nearly fell off his chair, but the e-mail from her was good, knowing that my life wouldn’t be turned upside down. And Dr. Lynch said chances of growing old weren’t real good.”

  ***

  Back at the family reunion, the question-and-answer period, mixed with testimonials, had begun. A thin blond woman named Vicky rose and said she had had the surgeries—preventive mastectomies and a hysterectomy with an oophorectomy—four years ago and now wanted to know if soy products, known to contain certain estrogens, were safe to eat. Lynch said he did not know. His assistant, Carrie, said it did help with the symptoms. Karen, the family member who had taken the lead in organizing the event, asked the doctor to discuss the family’s particular mutation. He explained that, in addition to breast and ovarian, the mutation seemed slightly to raise the risk of prostate and colon cancer. Sumedha added that one of the branches of the family had a lot of colon cancer, but it might not be related to the mutation under discussion. T
hen, quickly and without a noticeable transition, the conversation turned to the sort of reminiscences one would expect to hear at a family reunion—almost.

  “I got the Creighton number from the American Cancer Society,” said Sheila, a stocky woman with short dirty-blond hair. “I called Carrie and then I was gathering information for a while. I literally was at cemeteries looking up death dates so I could go look up the cause of death.” Sheila was the driving force behind getting the mutation information together until she actually got tested—and turned up negative. Such was the strange logic of these things that her good luck destroyed her credibility as the local cancer organizer.

  “Then we had more than five hundred people,” said Carrie. “But we have now found more than two hundred here, through Sumedha. I was referring people to her to get their results, and she said, ‘I think I know another branch.’”

  “My ovarian cancer started at Stage III,” said Mary Lou, who had the characteristic chemo look: thinned silky hair and a swollen body, as though it were visibly pumped full of drugs. “I have had sixty-two chemos,” she said. She seemed like she might be a little confused; her speech was slurred. “Well, there is no cure for my cancer. All they can do is chemo, shrink the tumor.” Mary Lou had no question for Dr. Lynch. Mary Lou was the youngest of the five sisters in the generation that was “all having cancer together” in the 1970s. With her four sisters dead, she was the last representative of her generation, and when she developed ovarian cancer, she became the key to discovering the cause of all the family cancers. It was when she was tested that the researchers finally pinpointed the deletion in the BRCA1 gene.

  Lynch ceded his place at the front of the room to a fortyish bespectacled woman named Brenda, who now seemed intent on something of a pep rally. “My mother has lost her sisters, her mother. And has two daughters who are positive,” she almost chanted. “But we also have a survivor gene, because there is great survivorship!”

  Lynch stretched out his legs and leaned back in a plastic chair, looking very pleased. “This is the largest of all I’ve done, all over the world,” he told me. He had held family information services in Uruguay, Colombia, Brazil, Argentina, Singapore, and elsewhere. “I can guarantee you that many of these people didn’t really understand it before this and they still don’t completely, but it’s so valuable. And what does it cost? Almost nothing.”

  “Dr. Lynch, could you come to the front?” Brenda was not about to leave him alone. “Could you tell us why you do this?”

  “I am interested in genetics,” answered Lynch affably. “And as an oncologist, I really do not enjoy treating advanced cancer.”

  He latched onto a shy, beautiful blond who had been quiet all afternoon. Now it turned out she was a relative from Milwaukee whose father and grandfather had died of colon cancer. Lynch asked her for “any tissue that may have been preserved.” He also told her to get a colonoscopy, quick.

  In the other room, members of the family were having their blood drawn. “You know, Bob is positive,” said Sheila proudly, speaking to no one in particular. “And he’s got three kids and they are all here and they are all being tested. They are all in their twenties.” A young man with five-day stubble and a baseball cap turned backward stood next to her, smiling smugly. I assumed he was one of Bob’s kids.

  ***

  By four o’clock the basement conference room had emptied out. Lynch and his team had gone back to Nebraska. The blue-eyed branch of the family—the long-term survivors—went out to early dinner. Others had gone home. Karen, the organizer, and I sat in plastic chairs and talked.

  She told me about growing up in Green Bay, about her aunts getting cancer and her cousins developing the fear of it, about the second wave of cancer hitting more than twenty years later. “Amy, Nancy, Carla, Carolyn, and Cathy developed cancer in the mid- to late nineties. I started talking on the phone with Sheila, and we decided we had to find out about that Madison study.” They remembered that graduate student or whoever he was coming to draw blood from the family when Karen was twelve. “Sheila called Madison; they found nothing but gave her the Creighton number.”

  The first family meeting included sixteen or seventeen female cousins. Sheila did a presentation, and everyone filled out the paperwork to get into Lynch’s study. “They tested Mary Lou, Sheila, and a couple of others. They found the deletion. Letters went out to everyone saying, ‘We have found the mutation, we want to test first-line relatives.’ I asked my father to get tested. He didn’t care but agreed to get tested anyway, though he was still of the thinking that it didn’t affect the men. He was positive. I was tested in April 2001, got results in October, had surgery in November.” An oophorectomy, hysterectomy, and mastectomy. Just like that.

  The thing was, the trail had been blazed. In this family—no doubt in large part because of Lynch’s influence—if people test positive for the mutation, they get surgery. “Misery loves company.” Karen smiled. “Vicki’s surgery was in October, mine in November, Terry’s in December. When I found out I had the mutation, Vicki had just had the surgery. I went over to her house and said, ‘I need to see what you look like.’ She lifted up her shirt, and I said, ‘Okay, I can do this.’ And when I came out of surgery, there was Vicki waiting for me. And she said, ‘I’m just here to say you can do this.’ And when Terry had her surgery, we were both there waiting for her.”

  They were there for each other to talk about the first glimpse in the mirror (“Oh my god, what did I do?”), and menopause issues from memory loss (“I start reading a novel and toward the end I forget it all”) to vaginal dryness to their new bodies and sex (“What did your husband say the first time you had intercourse?”). One of the cousins, Terry, had seen her mother diagnosed with breast cancer at the age of thirty-two. “Terry bathed her, when she was nine, after her radical mastectomy. Back then her chest just caved in.” In those days surgeons took the chest muscle along with all the breast tissue. All the cousins had reconstruction, with saline implants. But, said Karen, the decision to have her breasts removed was perhaps hardest for Terry, who “remembered lying in her bed at night listening to her mother cry for hours.”

  As for Karen, who was now forty-seven, a stay-at-home mother of three boys, she had decided right away that she would never look back. And one other thing: “When we left Sumedha’s office after getting my results, I said to my husband, ‘I will never pine for that girl I didn’t have.’”

  I told Karen about my daughter. And my breasts. And my decisions. We compared notes. For an hour or so, I felt every bit like I was one of the “cancerphobe” cousins. Then I went back to my motel, ordered in, watched the rain fall outside the window as I chewed, and felt a vague sense of envy set it. Cancer, even in the so-called previvor stage, is the loneliest thing on earth. To think that some people go through it as families: Like much of what I had seen and heard that day, the thought boggled the mind.

  Chapter 7

  The Cruelest Disease

  BEFORE MY VISIT, Rob must have asked me half a dozen times whether I really wanted to make the two-hour drive east of Toronto to see him in the country. I assured him I did: I wanted to see him in his home and on his land, whose beauty, I could tell from our brief correspondence, was important to him.

  The drive was dull: highway followed by a stretch of plain country road to the village of Hastings, which offered the trip’s first visual respite with a couple of old red-brick buildings and a rapid river running through the center of the village. Another few miles down a side road, and I was in Rob’s driveway, an unpaved path up a wooded hill. This is where my sense of my surroundings changed: Whoever chose this as a place to live had followed a very deliberate aesthetic.

  Rob’s house was exactly what it should have been: white walls, exposed wooden posts and beams, a glass wall to the porch overhanging the hillside, the smell of a wood-burning stove, a mix of vintage and new furniture arranged with a meticulousness that marked this as the residence of a comfortable urban gay
man. Rob had prepared a lunch of soup and home-baked bread, with sliced California strawberries for dessert. This was a man who worked at comfort and harmony, and, from what I could tell, was very good at it.

  We ate, drank a glass of white wine each, chased it with coffee (I was driving), and talked for a couple of hours. Rob was shy, thoughtful, and very eager to help with my project. When I transcribed the interview at home a couple of weeks later, I realized he had spoken almost exclusively in sentence fragments, often running on so that I had some trouble with the placement of punctuation marks. I had no way of telling if this had always been his way of speaking. A lot of people talk like that; it is perhaps less odd to the human ear than when a person consistently uses complete sentences. But Rob’s impulsive and not quite grammatically correct speech may have been an early symptom.

  Huntington’s disease begins with signs that are best deciphered in retrospect. After the diagnosis, relatives usually remember that it was years ago that the affected person became sad or withdrawn, then depressed and difficult to get along with. Other common symptoms include lack of motivation, sexual problems, and suspiciousness or even paranoia. In other words, at the beginning the patient seems like any middle-aged person—the disease usually hits in midlife—having a bad day, week, or year. But the darkness never lifts. Instead, the symptoms become increasingly pronounced, and diagnosis usually comes after the patient develops characteristic involuntary movements, or chorea, which gave the disease the name by which it is still known in some places: Saint Vitus’ dance. In affected patients, the gait becomes unsteady; they make endless jerky movements with their limbs and sometimes their head. Eventually, they will lose the ability to walk or even sit unaided. At the same time, their speech and memory will deteriorate, ultimately resulting in dementia. Their behavior, too, will grow more and more troublesome: They will be impulsive, disinhibited, socially inappropriate at best and aggressive at worst. Not long ago, Huntington’s patients used to die on psychiatric wards, often misdiagnosed as having schizophrenia or another mental illness. Now most of them spend their final years in general long-term care facilities, where they die, bedridden, nonverbal. Many literally starve to death: Their loss of muscle control makes it impossible to swallow—they choke on every spoonful—and if a no-tube-feeding order is in place, death eventually follows. Other Huntington’s patients die of the illnesses that always plague the immobile and the infirm: pneumonia, heart failure, or infection. Death usually comes fifteen to twenty-five years following diagnosis. The discoverer of the disease, a nineteenth-century Long Island doctor named George Huntington, described a patient in the end stages as “but a quivering wreck of his former self.”