Frameshift

by Robert J. Sawyer

  Pierre picked up the samples, brought them back to LBNL, and turned them over to Shari Cohen and five other grad students; there were always plenty around. Through the polymerase chain reaction, the students would produce copies of each set of DNA, then test the material for thirty-five different major genetic disorders Pierre had specified.

  That evening, as he was leaving building 74, Pierre passed Klimus in a corridor. He responded to Klimus’s curt “Good night” with a soft “Auf Wiedersehen,” but the old man didn’t seem to hear.

  C h a p t e r

  30

  While he waited for the grad students to report back on the samples Helen Kawabata had provided, Pierre mapped out all the cytosines in the portion of Molly’s DNA that contained the code for the telepathy neurotransmitter. He then crunched the numbers backward and forward, looking for a pattern. He’d wanted to crack the hypothesized code that cytosine methylation represented, and he could think of no more interesting stretch of DNA to work on than that part of Molly’s chromosome thirteen.

  And at last he succeeded.

  It was incredible. But if he could verify it, if he could prove it empirically—

  It would change everything.

  According to his model, cytosine-methylation states provided a checksum—a mathematical test for whether the string of DNA had been copied exactly. It tolerated errors in some parts of the DNA strand (although those errors tended to render the DNA garbled and useless, anyway), but in others—notably right around the telepathy frameshift—it would allow no errors, invoking some sort of enzymatic correction mechanism as soon as copying was initiated. The cytosine-methylation checksum served almost as a guardian. The code to synthesize the special neurotransmitter was there, all right, but it was deactivated, and almost any attempt to activate it was reversed the first time the DNA was copied.

  Pierre stared out the lab window, contemplating it all.

  If a frameshift in a protected region occurred by accident due to a random addition or loss of a base pair from the chromosome, the cytosine-methylation checksum saw to it that any future copies—including those used in eggs or sperm—were corrected, preventing the error in coding from being passed on to the next generation. Molly’s parents had not been telepaths, nor was her sister, nor would any of her children be.

  Pierre understood what it meant, but was still shocked. The implications were staggering: a built-in mechanism existed to correct frameshifts, a built-in way of keeping certain fully functional bits of the genetic code from becoming active.

  Somehow, the enzymatic regulator had failed to work during the development of Molly’s own body. Perhaps that had been due to some drug—prescription or illegal—Molly’s mother had been using while pregnant with Molly, or to some nutrient missing from Molly’s mother’s diet. There were so many variables, and it was so long ago, that it would likely be impossible to duplicate the biochemical conditions under which Molly had developed between her conception and birth. But whatever had happened then had allowed the expression of something that was—the anthropomorphic language kept springing to Pierre’s mind, despite his efforts to avoid it—that was designed to remain hidden.

  A Saturday afternoon in June. The doorbell rang.

  “Who could that be?” said Pierre to little Amanda, who was sitting in his lap. “Who could that be?” He made his voice high and soft, the exaggerated tones generations of parents have used when talking to their babies. Meanwhile, Molly got up and went to the door. She checked the peephole, then opened the door, revealing Ingrid and Sven Lagerkvist, and their little boy, Erik.

  “Look who’s here!” said Pierre, still baby-talking to Amanda. “Why, look who’s here! It’s Erik. See, it’s Erik.”

  Amanda smiled.

  Sven was carrying a large wrapped gift. He kissed Molly on the cheek, handed the gift to her, and came into the living room. Molly placed the package on the pine coffee table. She then came over to Pierre and took Amanda from him. Although Pierre loved holding his daughter in his arms while sitting in a chair, he’d given up walking and carrying her after almost dropping her a few weeks before.

  Molly carried Amanda into the middle of the room and set her down on the carpet near the coffee table. Sven, holding Erik’s chubby little hand, led him across the living room to where Amanda was.

  “Manda,” said Erik in his soft, slurred way. As was typical of those with Down’s syndrome, Erik’s tongue stuck partway out of his mouth when he wasn’t speaking.

  Amanda smiled and made a small sound low in her throat.

  Pierre leaned back in his chair. He hated that sound, that little thrumming. Each time Amanda made it, his heart skipped. Maybe this time—maybe at last…

  Molly pointed at the brightly wrapped box and spoke to Amanda. “Look what Erik and Uncle Sven and Aunt Ingrid brought for you,” she said. “Look! A present for the birthday girl.” She turned to the adult Lagerkvists. “Thanks so much, guys. We really appreciate you coming over.”

  “Oh, it’s our pleasure,” said Ingrid. She was wearing her red hair loose about her shoulders. “Erik and Amanda always seem to have such a good time together.”

  Pierre looked away. Erik was two; Amanda was one. Normally, they wouldn’t have made good playmates, but Erik’s Down’s syndrome had already held up his mental development enough that he really was at much the same stage as Amanda.

  “Would either of you care for coffee?” asked Pierre, meticulously rising from his chair, then holding on to its back until he was completely steady.

  “Love some,” said Sven.

  “Please,” said Ingrid.

  Pierre nodded. They’d gotten past the point, thank God, where Ingrid insisted on offering to help Pierre with every little thing. He could manage making coffee—although he would need someone else to carry the steaming cups back to the living room.

  He poured ground coffee into the coffeemaker. Next to the machine sat the cake Molly had bought, a Flintstones birthday cake crowned with plastic figures of Fred and Wilma surrounding a baby Pebbles; Molly had said there had been a Barney/Betty/Bamm Bamm version for little boys. Red lettering on the white frosting said “Happy First Birthday, Amanda.” Pierre resisted the urge to sneak a bit of the icing. He added water to the coffeemaker, then headed back into the living room.

  The unopened gift had been set aside; they’d wait till after the cake for that. Erik and Amanda were now playing with two of Amanda’s favorite plush toys, a pink elephant and a blue rhinoceros.

  Molly smiled up at Pierre as he came in. “They’re so cute together,” she said.

  Pierre nodded and tried to return the smile. Erik was a well-behaved little boy; he seemed to be passing calmly through what for a normal child would have been the Terrible Twos. But, then, they knew exactly what was wrong with Erik. It was tearing Pierre up not knowing what was wrong with Amanda. After an entire year of life, she hadn’t said so much as “Mama” or “Dada.” There was no doubt that Amanda was a bright girl, and no doubt that she seemed to understand spoken language, but she wasn’t using it herself. It was both heart-wrenching and puzzling. Of course, many children didn’t speak until after their first birthday. But, well, Molly’s biological father was a certified genius and her mother was a Ph.D. in psychology; surely she should be on the fast end of the developmental cycle, and—

  No, dammit. This was a party—hardly the occasion to be dwelling on such things. Pierre returned to the living room.

  Ingrid, on the couch, gestured at Erik and Amanda. “The time goes by so quickly,” she said. “Before we know it, they’ll be grown.”

  “We’re all getting older,” said Sven. He’d been cleaning his Ben Franklin glasses on the hem of his safari shirt. “Of course,” he said, replacing them on his nose, “I’ve felt old ever since the girls in Playboy started being younger than me.”

  Pierre smiled. “What did it for me was Partridge Family reruns. When I first encountered that show in the mid-seventies, I thought Susan Dey was the
hot one. But I saw a rerun recently, and she’s just a skinny kid. Now I can’t take my eyes off Shirley Jones.”

  Laughter.

  “I knew that I was getting old,” said Molly, “when I found my first gray hair.”

  Sven waved his arm dismissively. “Gray hair is nothing,” he said; there were more than a few in his massive beard. “Now, gray pubic hair…”

  The doorbell rang again. Pierre went to open it this time. Burian Klimus stood on the stoop, his ever-present pocket notebook visible in his breast pocket.

  “I hope I’m not too late,” said the old man.

  Pierre smiled without warmth. He had hoped that his boss had been kidding about wanting to come over for the baby’s birthday. Klimus kept finding reasons to visit Molly and Pierre at home, kept looking at little Amanda, kept writing things in his notebook. Pierre wanted to tell him to go to hell, but he still wasn’t permanently assigned to LBNL. Sighing, he stood aside and let Klimus come in.

  Everyone had gone home. The cake had been devoured, but the cardboard tray it had come on still sat on the dining-room table, a ring of frosting and crumbs on its upper surface. Empty wineglasses were perched on various pieces of furniture and on one of the stereo speakers. They’d clean it up later; for now, Pierre just wanted to sit on the couch and relax, his arm around his wife’s shoulders. Little Amanda sat in Molly’s lap, and with her chubby left hand was holding on to one of her father’s fingers.

  “You were a good girl today,” Pierre said in a high-pitched voice to Amanda. “Yes, you were.”

  Amanda looked up at him with her big brown eyes.

  “A very good girl,” said Pierre.

  She smiled.

  “Da-da,” said Pierre. “Say ‘Da-da.’”

  Amanda’s smile faded.

  “She’s thinking it,” said Molly. “I can hear the words. ‘Da-da, Da-da.’ She can articulate the thought.”

  Pierre felt his eyes stinging. Amanda could think the thought, and Molly could hear the thought, but for Pierre from his daughter there was only silence.

  Time passed.

  Pierre had spent a long and mostly fruitless morning trying different computer models for coding schemes in his junk-DNA studies. He leaned back in his desk chair, interlaced his fingers behind his head, and arched his spine in a stretch. His can of Diet Pepsi was empty; he thought about going to the vending machine to get another.

  The door opened, and Shari Cohen came in. “I’ve finally got the last of those reports, Pierre,” she said. “Sorry it took so long.”

  Pierre waved her closer and had her place them on his desk. He thanked her, added the new reports to the pile of other genetic tests of murder victims that had been submitted earlier, squared all the pages off by tapping them on their four sides, then started going through them.

  Nothing unusual on the first. Nada on the second. Zip on the third. Oh, here’s one—the Alzheimer’s gene. Bupkes on number five. Diddly on six. Ah, a gene for breast cancer. And here’s a poor fellow who had both the Alzheimer’s gene and the neurofibromatosis gene. Three more with nothing. Then one with a gene for heart disease, and another with a predisposition to rectal cancer…

  Pierre made notes on a pad of graph paper. When he’d gone through all 117 reports, he leaned back in his chair again, flabbergasted.

  Twenty-two of the murder victims had major genetic disorders. That was—he rummaged on his cluttered desk for his calculator—just under 19 percent. Only 7 percent of the general population had the genetic disorders Pierre had asked the grad students to test for.

  The samples Helen had provided had all been labeled, but Pierre didn’t recognize any of the 117 names, let alone the 22 of them who had had major genetic disorders. He’d hoped some of them would have been people he knew of from the UCB/LBNL community, or people he’d heard Klimus mention in passing.

  And there was still the problem of Bryan Proctor. The only murder conclusively related to the attempt on Pierre’s life was Proctor’s; Chuck Hanratty had been involved in both. But there was no tissue sample from Proctor, and nothing Proctor’s wife had said to Pierre indicated that he’d had any genetic disorder. He’d have to find the time to visit Mrs. Proctor again, but—

  Merde! It was already 14:00. Time to leave to pick up Molly. His stomach started churning. The murders could wait; this afternoon, they were going to find out what was wrong with Amanda.

  “Hello, Mr. and Mrs. Tardivel,” said Dr. Gainsley. He was a short man with a fringe of reddish gray hair around his bald head, and a completely gray mustache. “Thank you for coming in.”

  Pierre shot a glance at his wife to see if she was going to correct the doctor by pointing out that it was Mr. Tardivel and Ms. Bond, but she didn’t say a word. Pierre could tell by her expression that the only thing on her mind was Amanda.

  The doctor looked at each of them in turn, a grim expression on his face. “Frankly, I thought your pediatrician was just humoring you when she referred you to me; after all, lots of kids don’t speak until they’re eighteen months or more. But, well, have a look at this X ray.” He led them over to an illuminated wall panel with a single gray piece of film clipped to it. The picture showed the bottom half of a child’s skull, the jaw, and the neck. “This is Amanda,” he said. He tapped a small spot high up in the throat. “It’s hard to see the soft tissues, but can you see that little U-shaped bone? That’s called the hyoid. Unlike most bones in the body, it’s not attached directly to any other bone. Rather, the hyoid floats in the throat, serving as an anchor for the muscles that connect the jaw, the larynx, and the tongue. Well, in a normal child Amanda’s age, we’d expect to see that bone down around here.” He tapped the X ray farther down in the throat, in a line directly behind the middle of the lower jaw.

  “And?” said Molly, her tone perplexed.

  Gainsley motioned for them to take the two chairs in front of his wide glass-topped desk. “Let me see if I can explain this simply,” he said. “Mrs. Tardivel, did you breast-feed your daughter?”

  “Of course.”

  “Well, you must have noticed that she could suckle continuously without pausing to breathe.”

  Molly nodded slightly. “Is that abnormal?”

  “Not for newborns. In them, the path between the mouth and the throat curves very gently downward. This allows air drawn in by the nose to flow directly into the lungs, bypassing the mouth altogether, making it possible to breathe and eat at the same time.”

  Molly nodded again.

  “Well, as a baby begins to grow up, things change. The larynx migrates down the throat—and with it, the hyoid bone moves down, too. The path between the lips and the voice box becomes a right angle instead of a gentle curve. The downside of this is that a space opens up above the larynx where food can get caught, making it possible to choke to death. The upside, though, is that the repositioning of the larynx allows for a much greater vocal range.”

  Pierre and Molly looked briefly at each other, but said nothing.

  “Well,” continued Gainsley, “the migration of the larynx is normally well under way by the first birthday and completed by the time the baby is eighteen months old. But Amanda’s larynx isn’t migrating at all; it’s still up high in her throat. Although she can make some sounds, a lot of other sounds will elude her, especially the vowels aw, ee, and oo—like in ‘hot,’ ‘heat,’ and ‘hoot.’ She’s also going to have trouble with the guh and kuh sounds of G and K.”

  “But her larynx will eventually descend, right?” asked Pierre. He had one testicle that hadn’t descended until he was five or six—no big deal, supposedly.

  Gainsley shook his head. “I doubt it. In most other ways, Amanda is developing like a normal child. In fact, she’s even a bit on the large size for her age. But in this particular area, she seems completely arrested.”

  “Can it be corrected surgically?” asked Pierre.

  Gainsley pulled at his mustache. “You’re talking about massive restructuring of the throat. It wo
uld be extremely risky, and have only minimal chances of success. I would not advise it.”

  Pierre reached over and took his wife’s hand. “What about—what about the other things?”

  Gainsley nodded. “Well, lots of children are hairy—there’s more than one reason why we sometimes call our kids little monkeys. At puberty, her hormones will change, and she may lose most of it.”

  “And—and her face?” said Pierre.

  “I did the genetic test for Down’s syndrome. I didn’t think that was her problem, but the test is easy enough to do. She doesn’t have that. And her pituitary hormones and thyroid gland seem normal for a child her age.” Gainsley looked at the space between the two of them. “Is there, ah, anything I should know?”

  Pierre stole a glance at Molly, then made a tight little nod at the doctor. “I’m not Amanda’s biological father; we used donated sperm.”

  Gainsley nodded. “I’d thought as much. Do you know the ethnicity of the father?”

  “Ukrainian,” said Pierre.

  The doctor nodded again. “Lots of Eastern Europeans have stockier builds, heavier faces, and more body hair than do Western Europeans. So, as far as her appearance is concerned, you’re probably worrying about nothing. She clearly just takes after her biological father.”

  C h a p t e r

  31

  Pierre drove over to San Francisco, made his way to the dilapidated apartment building, and touched the button labeled SUPER. A few moments later, a familiar female voice said, “Yes?”

  “Mrs. Proctor? It’s Pierre Tardivel again. I’ve just got one more quick question, if you don’t mind.”

  “You must get Columbo reruns up in Canada.”

  Pierre winced, getting the joke. “I’m sorry, but if I could just—”

  He was cut off by the sound of the door mechanism buzzing. He grabbed the handle and headed through the drab lobby to suite 101. An elderly Asian man was just getting off the small elevator next to the apartment. He eyed Pierre suspiciously, but went upon his way. Mrs. Proctor opened the door just as Pierre was about to knock.