Blood Matters

by Masha Gessen

  Medical training did not equip Wendy to recognize Huntington’s at home. When her mother began to withdraw socially, it looked like depression, unsurprising in the wife of an alcoholic who was drinking more and more. Wendy’s mother was a teacher, but even after her penmanship began to change perceptibly, the family pretended nothing out of the ordinary was going on. Wendy’s mother was fifty when she finally tested positive for the mutation—even though she had pretended she was being tested to allow her children to learn of their risk. In her case the positive result amounted to a diagnosis.

  When her risk was bumped up to 50 percent, Wendy already had a son. “I went through genetic counseling to determine whether or not I should be tested and whether or not I should have another child, and I didn’t know what to do. And I was really cheated at that point because I wanted a big family and suddenly I felt like I couldn’t have a big family, because of the risk: If I was gene-positive, what would it mean? I couldn’t live with myself if I had given this to my children. So I went through the counseling, and it was the same geneticist that had tested my mom, and he was very familiar with our family line, and he and I together determined that I wasn’t the type: There was nothing that could be done in terms of learning that I was positive. There was no miracle cure. It was a matter of a waiting game, and could I live with that? And the answer to that is, No. It would affect me and my life and my outlook, and I’d be sitting there waiting for the other shoe to drop. But I also did a lot of soul-searching, and I made the decision to have one more child, and I did, and I had a tubal when I was twenty-seven, right after he was born. And I have two wonderful boys. One that I carried when I didn’t know and one that I carried when I did. So I also have to live with explaining to him someday, if in fact I am gene-positive. I wonder if he is going to be angry with me, if he is going to understand why I made the decision that I did.”

  Wendy planned to tell him pretty much what her mother had told her: that “you cannot live forty years up the road.” Wendy was thirty-six when we spoke and her son was nine, and the fact was that, if she indeed carried the defective gene, she would be very lucky to be lucid enough to have this conversation with her son when he was old enough to ask a question that hard. Her own mother, at sixty-one, was in the advanced stages of the disease. She had been in a wheelchair for three years, because she had become incapable of standing or walking without falling down. The many falls she had sustained, several with impact to the head, might have been responsible for some types of mental confusion that were not typical of Huntington’s patients, such as sometimes thinking she had seen relatives who had not actually visited.

  Her mother’s Huntington’s symptoms, Wendy told me, included utter disinhibition, which in her case luckily served to amplify her cheery, outgoing personality. Where another Huntington’s patient might have an aggressive outburst, Wendy’s mom was just likely to be excessively loud in praising someone’s blouse. Wendy insisted that she enjoyed her mother, with her newly unleashed sense of humor, and it was an hour into our conversation before she mentioned that during a recent visit her mother had grown angry with a nurse and attempted to bite her. She was not dissembling: It was just that at this point, Huntington’s subjected her mother to more uncontrolled cheer than uncontrollable aggression—thanks, in all likelihood, to something that was fundamental to the woman’s personality, to her children’s unconditional devotion, and to some sort of neuronal luck. That this luck would sooner or later run out was nearly as certain as Huntington’s continuing to progress in Wendy’s mother.

  Wendy tried to imagine herself living with the symptoms. “I could live up to the point where my mom is now. I could do that. So I slur a little bit, and I sit in a wheelchair and I don’t stand. I can interact with my family, that type of thing, and have some sort of a meaningful relationship and make some sort of a contribution. But I don’t know if I could do anything beyond that. I don’t know if I’d want to be here to do anything beyond that.” Considering assisted suicide, even if it concerned the consequences of a disease she had a 50 percent chance of avoiding, made Wendy feel like a hypocrite. “Religiously, I don’t agree with it. I think we are all here for a reason and there is something greater than us and that’s what keeps me going. I have faith. Without that, I don’t know where I’d be.” This was perhaps as close as Wendy came to explaining to me why she could not get tested. She had reached an uncertain equilibrium by relying on her faith. A positive test for the mutant huntingtin gene might have destroyed her ability to believe in a guiding power. No God could be that cruel.

  ***

  Genetic counselors and social workers who handle Huntington’s cases get very good at telling the ones who will go through with the test from the rest (although several of them told me they were famously bad at pinpointing the ones who would test negative or positive—unless clinical symptoms were already pronounced). They are the ones who always start Huntington’s conversations with the social worker who comes to the house to check on the affected person. They are the ones who use the key phrase, “I’ve just got to know.”

  Genetic counselors try to weed out those who are too young or too ill-equipped to handle the information. Sometimes a twenty-two-year-old will agree to wait a few years, until he can form a contingency plan—and buy a life insurance policy. Sometimes a person who worries counselors will agree to see a psychiatrist. Ultimately, though, these days no one who really wants to get tested for Huntington’s is turned away. Presymptomatic testing rates are higher than in the early 1990s but nowhere near the rates those early surveys predicted. In the different Western countries where predictive testing for Huntington’s is available, roughly one in five at-risk people choose to find out if they carry the mutant gene.

  Scott was one of those who needed to know. Handsome, tan—his job had him outside most of the time—he fit the profile of the Huntington’s information lover. He was forty-eight, and it was less than a year since he had found out he was at risk. His father’s disease set in very late—at seventy-eight—and he had hidden it from his children. He and his wife attributed the involuntary movements—including “rabbit-chewing,” constant, uncontrollable, and intensely embarrassing, with the tongue always finding its way out of the old man’s mouth—to old age. It was not until a series of catastrophic events at his parents’ home pulled Scott into their household that he learned of the diagnosis.

  His mother had to be hospitalized for knee surgery, so Scott was helping out his father. Just then the older man fell down in his driveway, hitting his face. Scott took his father to the hospital, where they were referred to a neurologist who said, “I think your dad knows something he is not sharing with you.” Outside the doctor’s office, Scott’s father confessed he had been diagnosed with Huntington’s.

  That was the first Scott heard of the disease in his family. It is possible that this is one family where people have to live a long time to see symptoms set in, so many of its members were spared a Huntington’s death. On the other hand, one of Scott’s paternal aunts—his father’s sister—died relatively young, some years after being diagnosed with paranoid schizophrenia. She might have been one of those misdiagnosed Huntington’s patients.

  Scott surfed the Net and went to see a geneticist. “It was funny because the doctor, the genetic counselor, kept saying, Are you sure?’ And they had the form for me and I was just, ‘Give it to me, I’m going upstairs.’ Are you sure? Do you want to take some time to think about this?’ ‘No, I’m doing this!’”

  When I spoke to Scott, he had already given blood but was still two months away from getting his results: In rural Ontario, genetic information was handed out strictly when the specialist came to town, which was not often. Scott assured me he was fine with waiting—he did seem perfectly calm—and explained the plan. “If I have it, I will tell my boys. If I don’t have it, I will still tell them what Grandpa has and I will tell them that I’m okay and they are okay.” His sons were twelve and twenty, and before going to hav
e his blood drawn, Scott had taken out life insurance policies on them. He also planned a weekend fishing expedition he had been promising his sons for a decade. He had resolved to do the things he had been putting off, to work less and spend more time with his family, and perhaps to travel finally outside Ontario.

  The thing was, Scott clearly did not believe he carried the gene. Occasionally, very occasionally, he casually diagnosed himself, the way all Huntington’s family members do. “Every time you stumble, every time you forget something, automatically: Is it starting? If I get out of bed in the morning and I’m tired and I kind of do a little wave or something, and then I see my wife do it, I think, oof it’s both of us!” But he also did something else all people at genetic risk do: He applied the odds to his own family. I had spoken to people who said they could not get tested because a negative result would mean their siblings were positive—odds being fifty-fifty, after all. Wendy had something of a no-testing pact with her lone brother. And Scott, it was clear, believed his only brother was the one who inherited the disease. Scott’s brother was also awaiting his test results when I interviewed Scott; he refused to meet with me, which, judging from what Scott told me, was unsurprising: Unlike Scott, he found the testing process excruciatingly difficult.

  “You know, I said something to him before I knew my dad had Huntington’s. I saw him at home, and he couldn’t sit still, and his movements were just all over the place. And I said, ‘You need to go see a doctor.’ And he said, ‘What for?’ I said, ‘You are just different.’” A short time later, when the brothers found out their father had Huntington’s, the difference was named.

  That sort of certainty can certainly be wrong. In Toronto I interviewed a young woman named Liz, who had learned of her father’s Huntington’s at sixteen: He was diagnosed in his early forties. She was tested at twenty-one but could never bring herself to return for the results. There was no point: She was so forgetful and experienced such frequent uncontrollable movements in her extremities that she needed no confirmation of her diagnosis. She resolved never to marry or have children. But at twenty-six she became serious about a man and decided to go back for her results. Liz was so surprised she was negative that she did not tell anyone about her results for a few days. Her memory problems turned out to be attributable to, well, not a great memory. The involuntary movements were symptoms of restless legs syndrome, a neurological condition that can be intensely uncomfortable but seems almost pleasant compared with Huntington’s.

  Scott and I agreed I would call him in a couple of months to ask about his results. I called and called, and he never picked up the phone. I submitted the manuscript to the publisher with a placeholder paragraph at the end of this chapter, saying that the self-confident handsome man I had met in Sudbury had tested negative while his brother had canceled his appointment with the genetic counselor a couple of times before finally going in to find out that he carried the mutant gene.

  Finally, when the book was about to go to press, I asked Julie Denomme to find out what really happened. It had now been more than a year since Scott was tested.

  Scott’s brother was indeed positive, and symptomatic. Scott himself had also tested positive for the mutation. His number of CAG repeats, however, fell into the “gray area”: thirty-eight, with thirty-six considered the upper limit of the norm and forty spelling certain Huntington’s. The low number of repeats might have been the reason Scott’s father’s symptoms set in so late in life—and it might even mean that Scott himself would never develop the disease. But while this was good news, of a sort, it sounded to me like another cruel joke of Huntington’s: Scott the information lover could get no information. He still had not told his sons. The man who had planned so well, who knew exactly what he would do if he tested negative and what he would do if he tested positive, was now apparently stuck not knowing what to do.

  Chapter 8

  The Science of Matchmaking

  MIRIAM KEPT HER five-by-seven index cards in a plastic box. She used paper clips to join the cards and photographs of the young women they described.

  “I had to throw out her picture because we didn’t need it anymore.” She smiled. “If you had seen her picture, you would have said, ‘Not pretty!’” There was no telling, of course, what I would have said, but Miriam’s son Yehuda had said, “No way!” (or so Miriam told me).

  But first Miriam had collected all the information she could on the prospective bride. She called her friend Bella, who ran a camp where the girl had worked as a counselor, and took notes. “Very attractive,” Miriam scribbled on an index card. “Not a Harry.” Harry is derogatory slang for someone whose ways have become too American. In addition, Bella told Miriam, the girl’s mother was “not like an American Henrietta.” She also said “personality 1,000 percent,” “perfect for Yehuda,” and “not European yeshivish, but definitely yeshivish.” Miriam was not sure what “European yeshivish” meant, but she knew Yehuda, who was a Talmudic scholar, wanted a girl he could talk to, so it was good she was “yeshivish.”

  Miriam also called the principal of the young woman’s high school, and scribbled down more superlatives on the other side of the index card. “Petite, thin, pretty, adorable, sparkling eyes. I love spending time with her. She is light, she is radiant.” The principal said she singled out the girl back in eighth grade—the principal’s first year at the school. “I went to her and I said, ‘When you finish high school and you finish seminary, I’m going to give you a job. Come back here and become a teacher in high school,’” said the index card.

  The principal also commented on the young woman’s mother: “Very special lady. Not pretentious. She is down to earth. She is not intimidating.” This was reassuring to Miriam, because the prospective in-laws were a rabbi’s family, and a rabbi’s family can seem a world apart, out of reach. Miriam’s husband was a real estate developer, and Miriam herself was an educated woman and a published author. Her family lived in an elegant apartment on Manhattan’s Upper West Side, and by all measures were a successful, worldly family, but even so they could be intimidated by a rabbi’s family should the family choose to intimidate them.

  Choosing a mate for her son was more than choosing a wife: It was looking at a potential partnership for the entire family. Miriam had seven children, and it would be reasonable to expect that each of them would marry into families that had as many or more, and would in turn have between five and twelve children of their own. Orthodox Jewish families tend to expand quickly to the size of a large village, and planning such a village takes concerted, reasoned effort. Miriam’s eldest son and eldest daughter had already married. It was now Yehuda’s turn. Next would come Rachel, who was in Israel for the year. A couple of calls from matchmakers had already come in for her, but Miriam had not yet started another box of index cards: She did not expect Rachel to start dating until she returned to New York in the summer. With any luck, Yehuda would be married by then. It was now November.

  There was another notation on the index card: The principal said that one of the rabbi’s children had had two children who died, and another had had a child who was born premature and had “complications.” So Miriam called up one of the family’s references, a man named Yan who was clearly in a position to advise her: First, one of his children had married into the rabbi’s family; second, he was himself a professional matchmaker. According to the index card, Yan recommended the prospective bride as “easy-going, warm, affectionate.” He mentioned she had been valedictorian of her high school class. He also highly recommended the family. As for the mysterious illnesses that worried Miriam, he reassured her. He said both the rabbi and his wife came from large families unaffected by World War II, meaning their genetic histories could be plainly viewed. Neither branch seemed to carry any genetic illnesses. The two dead children were, he said, “a freak accident.” The index card said: “No other indications, no markers to check for this, same odds as if you married anyone else.” The premature birth in the other family, he
said, was an unrelated event.

  “He had done his research,” said Miriam. She was reassured. She set up a date. Yehuda found the girl nerdy-looking. Her clothes were too large for her. Miriam discarded the photograph, clipped the index cards together, and moved on to the next candidate. Yehuda, a pale bespectacled young man with a large square chin that provided balance for his wide-brimmed black hat, was a tough customer: He dreamed of a girl who was both sophisticated and learned, worldly and modest, elegant and unconcerned with material goods. With social dating not practiced among Orthodox Jews, who believe in the separation of the sexes, it was up to his mother to find a match for him. Miriam, for her part, wanted to find a family with whom she as well as her son would be comfortable. And, it went without saying, both families would have to make certain that their children’s children would be free of hereditary genetic illnesses.

  ***

  Jewish law prohibits a man to marry a woman from a family of epileptics or lepers, to avoid passing illness on to future generations (leprosy is a bacterial infection, not a genetic condition, but since most of the world’s population is naturally immune to the disfiguring disease, susceptibility may indeed be inherited). Jewish scholars have interpreted this prohibition as applying to all hereditary conditions. Through most of history, though, that ban must have been difficult to observe. Recessive conditions, such as Tay-Sachs, have a way of showing up unexpectedly, when two mutation carriers from apparently healthy lineages marry. Dominant conditions, such as hereditary cancers or Huntington’s disease, most often manifest when a person has passed reproductive age. Then again, perhaps Jews did their best to observe the ban but genetic drift won out anyway, causing high carrier frequencies of several genetic conditions among Ashkenazi Jews.