The Boy In The Moon Part 6

One of the genes a.s.sociated with Noonan syndrome had already been found to have a role in the RAS pathway. So had a gene for neurofibromatosis. The physical traits of both syndromes, give or take a few details, were remarkably similar to the symptoms of Costello syndrome and CFC. It made sense that genes responsible for CFC's genetic mutations might lurk in the RAS pathway as well.

To fund a study of a syndrome that might affect three hundred people worldwide, however, was another matter. Fortunately-at least for Rauen's purposes-the RAS pathway had a known role in producing cancerous tumours, which are themselves the result of unstoppable cell growth. Costello, Noonan and neurofibromatosis all produced tumours, whereas CFC did not. To Rauen, those known facts looked like a research opportunity. Three out of the four syndromes found in the same cellular pathway produced cancer; the fourth did not. What made them different genetically? Would that knowledge provide clues to why tumours formed? By way of a.n.a.logy, say 100 kids grow up on the same street, but only 75 of them get the same kind of cancer. It follows that if you can figure out what was different about the 25 who don't get cancer, you might have a clue as to its cause and cure.

"That," Rauen continued, wrapping up the tour of her logic, "was the basis of a National Inst.i.tute of Health grant." Rauen was no longer investigating a mutation that afflicted a mere three hundred unfortunate kids. She was investigating a potential cause of cancer, via their handy DNA markers. "We are going to learn so much from these kids," she told me. "We are going to learn how to treat them better from knowing their genes.... We are going to learn so much about cancer treatment from these children that this is a huge discovery on multiple levels."

That, at any rate, was the theory. The practice was another matter. Rauen was working simultaneously on both Costello and CFC, trying to find the genes responsible. She needed thirty subjects with each syndrome, their consent and their DNA. Rounding up thirty Costello subjects took five years. By the time she completed her research-and the Costello gene was right where she predicted, in the RAS pathway-a team of j.a.panese researchers led by Yoko Aoki at Tohoku University in Sendai, j.a.pan, had beaten her to it by a month.

She had better luck with CFC, thanks to the blood samples Brenda Conger and Molly Santa Cruz had been gathering at their CFC conferences since 2000. What had taken five years to find for the Costello experiments took mere weeks for CFC. "I was handed a cohort of CFC subjects in days-in days days. I had DNA within that week. It was amazing."

In January 2006, three decades after cardiofaciocutaneous syndrome was first described, Kate Rauen published her findings. The mutations a.s.sociated with CFC occurred in at least three genes: BRAF, MEK1, MEK2. Independent research in j.a.pan had added another gene. Costello syndrome showed mutations in the HRAS gene, whereas Noonan syndrome showed up in the PTPN11 gene. All of them were found in the RAS pathway, and all of them influenced cell growth and cell death.

The genes and their complicated acronyms (most of which related to their chemical composition) sounded like newly discovered planets to me, as baffling and rarefied as genetics itself. But I didn't have any trouble following Rauen when she gave me her best guess of what had gone wrong in Walker. The dinner hour was approaching, and outside the windows of her office, San Francisco was washed in its standard impossible end-of-day gold.

The sequence of four paired nucleotides that, combined and recombined, make up the genes of a human being is three billion base pairs long. Each nucleotide is represented by a letter. "This mutation," Rauen said, referring to the one that caused CFC, "is one letter change in the entire gene. Yup. One letter in the entire gene, which causes one amino acid to change-one amino acid, one tiny building block of the entire protein. That's what causes CFC." That in turn had caused the snaggle of Walker's life.

"Does anyone know why that letter changes?" I asked.

"DNA replicates, right? DNA replicates, but it doesn't replicate with extremely high fidelity. If it replicated and never made a mistake, we would all look the same, right? The good news and the bad news is if it does make a mistake, it makes a mistake about once every million times. One in every one million base pairs has got a mistake in it. Now, you've got all kinds of proteins and enzymes and stuff that go back and try to find this mistake and correct it. So a lot of mistakes you never know about. But sometimes the mistake's not corrected. And when that mistake's not corrected, it causes a change in protein. And that protein behaviour might make our immune system better. It might make our muscles stronger. It could have beneficial effects called evolution. You know, survival of the fittest. But you can also have a genetic change that makes a deleterious effect, where it causes a hole in the heart, it causes your immune system to be weak. It might be a beneficial effect, it might be a deleterious effect."

I thanked Kate Rauen shortly after that, left her office, crossed the street outside her building, and sat down on a bench to think about what she had said. The scientific definition of evolutionary success, of a successful random mutation, is one that allows the organism to survive and reproduce. Nature alone would not have allowed my son to survive.

By the judgment of a geneticist, Walker was a deleterious effect deleterious effect of nature. of nature.

But he wasn't a product of nature alone. He had survived, and his survival was also a product of medical technology and human concern-the result of a G-tube and drugs and the steady attention of teams of people who believed their interaction with him was worth his and their while, even if the results were hard to measure. Walker wasn't much to brag about, intellectually or physically. But like many other CFC children, he had changed lives, mine as much as anyone's-deepened and broadened me, made me more tolerant and durable, more ethically dependable. He had given me a longer view. That felt like some form of evolution too, a positive ethical evolution, albeit not the kind modern genomic science tends to measure.

I looked up then, and discovered I was sitting in front of a street sculpture, "Regardless of History," created by an Englishman named Bill Woodrow. It was seven feet high, and bronze-a thin tree, blighted and leafless, stunted and growing out of a rock. But growing.

I flew back to Toronto. The summer became the fall. Our search for some insight into Walker's condition resumed.

On a Wednesday morning in October, I met Tyna Kasapakis, the manager of Walker's other home, at the genetics clinic of the Hospital for Sick Children. Walker was there too. The genetics clinic occupied a corner of the fifth floor of a downtown Toronto office building. From the front, the building looked like a giant tube of lipstick. It had once housed the corporate headquarters of a Swiss bank. The security guard behind the desk in the lobby nodded good morning to me. He had to have seen some sights. I took the elevator up and got off at the fifth floor and walked down the hall to the genetics clinic and sat in the same spotless waiting room in which I had cooled my heels nearly twelve years earlier, when Walker was diagnosed with CFC. I'd arrived early, before Tyna and Walker, and had to wait, as I had back then, for someone to arrive at the front desk. I didn't mind. I loved the optimistic calm of the office before 9 a.m. I sighed and breathed in, once more, the odourless still air of the empty hallways, under the usual fleeting illusion that we were the only people who ever came here, a rare breed that had strayed into a pristine, otherwise mutant-free world. (Appointments in the genetics clinic were s.p.a.ced out, to guarantee a minimum of interaction between the aberrations.) After living for eleven years with a clinical diagnosis of CFC, Walker was now to be tested genetically. Under the Canadian system of publicly funded medicine, a genetic test for CFC entailed a six-month wait: three months for the provincial health-care bureaucracy to approve the cost of the test, and another three months to organize a sample of Walker's DNA, fill in the paperwork, send the sample to the testing lab, have it tested and get the results back.

The usual routine ensued. While Walker threw toys around the playroom and moved onto and off my lap, a genetic counsellor (and sometimes two) ran through the standard disclaimers. There was no guarantee they would find an aberration in his genes, but that didn't mean he didn't have CFC. If these tests of three genes returned negative, we would look further afield, at rarer (and more expensively tested-for) genes. Even so, a diagnosis wasn't a cure. The state of genetic research was proceeding rapidly, but the technology was more advanced than any scientific understanding of what the technology revealed. A genetic diagnosis might or might not confirm that Walker was CFC, but even if it didn't he was still Walker, the same boy. Did we have any questions ...? I was close to being able to recite this entire spiel from memory, like a soliloquy out of Shakespeare. To test, or not to test: that is the question. Whether 'tis calmer in the mind to ignore the touts and dreams of genetic research, or to scan each cracked gene known to man, and by testing think we have an answer. To test and test and test some more, and by this test pretend it ends the heartache and the thousand natural shocks his small flesh is heir to. 'Tis a consummation devoutly to be wished!

Then the hard part: collecting the genetic material. Walker's DNA had been taken and sorted for a chromosome test when he was an infant (unbelievably, it showed no aberrations), and was still on file. But this morning the clinicians would take a new sample, just in case. I knew my part. Even doctors were afraid of how Walker might react; they couldn't tell the difference between what hurt him and what merely upset him because it wasn't part of his usual routine. I held him tight in my arms, my left hand across his chest to control his head, to keep it pointed in the same direction and keep his mouth open while the doctor stood back like the great white safari hunter, waiting to take a shot. I knew to hold him firmly, that control was the answer, but my thorough grip startled most doctors we saw, as much as they appreciated it. It made me feel useful, and it made me feel closer to my boy; his trusted handler, a strong man who still would never hurt him. And then the opening-now!-and the doctor swabbed the inside of his mouth with what looked like an extra-long Q-Tip. The Q-Tip went into a plastic tube. Done. Winter came. It was a cold one, with lots of snow. Walker developed the habit of crooning along with me as we drove back and forth to the group home to Ray Charles singing "What Kind of Man Are You?" and "I Had a Dream." Sometimes the moist air in the car condensed on the inside of the windows; I could hear Walker's fingers squeaking on the gla.s.s as he rubbed the fog away, as we drove north and east, singing the blues, Olga laughing with Walker in the back seat. Some days, to give Olga a break, I took him back by myself, but it was tricky: he relished the chance to sit in the front seat, liked to lower the windows in order to throw my maps out into the rus.h.i.+ng highway air. Now, that was a metaphor. He was a ball of writhing glee in the front seat, but he loved to chat-or to have me chat at him-as we sped up the fine wide highway. Christ it makes me ache to think of how much I adored him on those funny rides. Dad and boy, driving-how much more obvious does it get? But they were lonely rides, too, because I was often faintly, subliminally panicked when Johanna wasn't with us. But of course we were efficient: she and I took turns driving him because there was no point in two people spending two hours in the car, not with everything else there was to do.

Spring arrived. The trilliums I planted came up in the front garden. Then a young genetic counsellor named Jessica Hartley telephoned with some unusual news. None of the genes commonly a.s.sociated with CFC-BRAF, MEK1 and MEK2-were mutated in Walker's DNA.

I made another appointment, and Walker and Tyna and I headed back to the building shaped like a lipstick. The genetic testing was my idea, hence my duty, not Johanna's.

Hartley seemed impossibly young to be so knowledgeable. She had black hair and a mild Goth style. She was joined at our appointment by one of her superiors, a slim, middle-aged scientist named David Chitayat, a senior genetic scientist at the Hospital for Sick Children. The fact that Walker had shown no mutations in three genes commonly a.s.sociated with CFC, the counsellors were keen to a.s.sure us, didn't mean much. "If we don't find something, that doesn't necessarily mean he doesn't have CFC," Hartley said in an apologetic tone. "If everything comes back negative, we can revisit the test. CFC is definitely the most likely possibility." She suggested retesting, this time looking for other mutations too, notably Noonan and Costello syndromes.

As their understanding of CFC and its sister syndromes evolved, more and more researchers were once again thinking of CFC, Noonan and Costello as related syndromes-"RAS pathway disorders" or "Noonan spectrum disorders."

The genome was slowly yielding its arcane secrets, and scientists were beginning to attribute a wider and wider array of mental r.e.t.a.r.dations-particularly if accompanied by facial disfiguration and heart conditions-to disruptions in intracellular signalling pathways. The bodies of these children couldn't seem to figure out when to build cells, and when to stop.

Chitayat was a widely respected geneticist with a long history in the field. The mutation would have occurred, he said, in the first two weeks of Walker's life in his mother's womb. Each of the different genes a.s.sociated with CFC was supposed to perform its on/off signalling job at a different stage in the "cascade" of communication that occurred within a cell: the mutated BRAF gene came into play (or "phosphorylated") earlier, and therefore corrupted the cell's message at a more fundamental level than the MEK genes did. But the pathways fed back into themselves as well, with the (possible) effect that MEK-mutated CFC kids seemed to have frailer physical selves but milder cognitive problems. That was one theory, in any event-and it was all all theoretical. Geneticists had uncovered a vast realm of human physiology, but it often seemed that the more they uncovered, the less they understood about the ways the details fit together. theoretical. Geneticists had uncovered a vast realm of human physiology, but it often seemed that the more they uncovered, the less they understood about the ways the details fit together.

Jessica Hartley and David Chitayat and Kate Rauen worked on the genuine frontiers of science, and based their hypotheses on known and testable biochemical interactions, but there were days when their speculations didn't seem to me much different from the medical purification rituals of seventeenth-and eighteenth-century France, when coffee and chimney soot were confidently prescribed for madness, and melancholia was considered curable by drawing ten ounces of a man's blood and replacing it with the blood of a calf. In any event, Chitayat added, "The important thing for us to find is a diagnosis for what he has. But jumping to the cause of what he has is not so easy."

After an hour of talking, the next steps became clear. We would retest for CFC, to make sure we hadn't been dealt a false result. We would test for Noonan and Costello mutations, as well as for several other RAS-pathway cousins. If those tests also came back negative, we'd step back, and run a microarray of Walker's chromosomal DNA. Microarray scanning of chromosomes was infinitely more sensitive than the chromosome screen that had been conducted when Walker was a baby. "The microarray is looking for missing or extra bits in the chromosomes," Dr. Chitayat explained-missing words in the genetic sentence of his life-"whereas the gene testing is looking for spelling mistakes as well." If Walker had a mutation in an as yet undiscovered gene that led to a chromosomal disorder, the microarray might reveal where in the genome his abnormality was. We knew I had parked the car in Ontario, I just didn't remember what city-that was the gist of it.

Some of the new tests (the microarray, for one) could be conducted in Canada, but others were possible only at certain approved labs in the United States. If Walker turned out to be positive for CFC, and his DNA was to be available for scientific studies, the result had to come from an approved lab. The tests cost $1,500 to $2,000 each; all required provincial approval if they were to be covered by the provincial health plan; the U.S. tests cost more, and required even more rigorous review and approval if my provincial health plan was to pay for them. The doctors submitted formal reasons for the tests, which were based on the need to find a genetic diagnosis for what Walker had-a reasonable enough request, given that a proper diagnosis might lead to a more complete understanding of his needs, and better treatments. This time around we could expect results in seven to nine months.

In the meantime all we could do was wait. It was as if a small part of Walker's body had been mailed out into the world, and was trying to mail itself back again. Not that anyone felt any need to rush. Whatever the diagnosis, it wouldn't change Walker.

The results finally arrived in the fall of 2008. I headed back to the lipstick clinic. Jessica was there again, and this time so was Dr. Grace Yoon, a Toronto neurogeneticist whose work on the neurological effects of CFC had led to an a.s.sociation with Kate Rauen's research team. She was a beautiful woman in her thirties, recently married, with a precise and careful way of speaking.

The latest round of genetic tests, alas, had only deepened Walker's mystery. He was still negative for BRAF, MEK1 and MEK2, the standard CFC genes. Nor did he test positive for KRAS, the gene for Costello syndrome, or for Noonan syndrome. His PTPN11 gene, a.s.sociated with neurofibromatosis, showed no mutation, and neither did SOS1 and BRAF1, two newly unearthed genes thought to have a connection to CFC.

"It does not mean that he doesn't have CFC. There are always genes that we don't know of yet," Dr. Yoon explained in one of the tiny consulting rooms at the clinic. "There's no question in my mind that he has something genetic. But at the moment I don't know what it is. CFC is the diagnosis made by earlier doctors, and I think that's still the best guess." Only 65 percent of people thought to have Noonan syndrome, for instance, display the "correct" gene.

Yoon added that researchers in the United States and j.a.pan had more recently linked the SPRED1 gene to neurofibromatosis. "But to be honest the patients who have that kind of genetic disorder are much milder," Yoon admitted. CFC, she repeated, "is the perfectly reasonable conclusion." Walker might have a more severe manifestation, and thus a rare mutational version, of CFC. But she wanted to consult her colleagues. She took some photographs of his face and feet and hands, conducted a physical exam, measured the s.p.a.ce between his eyes (they are wider apart than those of most CFC kids), noted his coa.r.s.er features as well as his more familiar epicanthal folds and the thickened skin over his ears. The familiar chant of symptoms. She would e-mail the photographs and the data to her international team, to canvas their opinion.

In the meantime we would wait some more. I felt the same way I did when I woke from a dream that at first I didn't remember having: something had happened, but all I could recall was a mild, faintly disturbing residue.

"Our knowledge is way behind the genetic-testing technology's capabilities," Yoon said, sensing my bewilderment. Her area of expertise was the effects of genetic mutation on cognition-an explorer at the far edge of not one but two frontiers of medical research, the barely known genes and the still unknown brain. Out where she worked, researchers didn't so much make discoveries as discover how much they didn't understand. "There are only three things in medicine that have made any real difference to the quality of human life," Yoon said, as our meeting ended. "Clean water, vaccinations and antibiotics." Genes don't yet make the list.

Memories of my many meetings in the well-swept clinic lingered like a mild virus. I didn't resent the geneticists: they were the first to admit how little they knew, and at the same time they were obviously the promise of the future. Kate Rauen's isolation of the main mutating CFC genes has already contributed significantly to the welfare of the syndrome's children by making the condition easier to diagnose. Early diagnosis in turn permitted early enrolment in a raft of therapies to diminish the syndrome's effects. The identification of the RAS pathway as a prominent culprit responsible for a wide array of developmental delays, to say nothing of an entire family of mental r.e.t.a.r.dations, is an enormous finding.

There was lots of promising research that buoyed my spirits-at least until the research amounted to nothing, and my spirits sank again. Two years after Rauen published her findings, for instance, researchers based in Rotterdam discovered that simvastatin-a common cholesterol-lowering drug-can reverse the cognitive deficits caused by neurofibromatosis in rats, especially spatial learning deficits and attention disorders. (I learned about the study when I was contacted out of the blue by Dr. Paul w.a.n.g, the developmental pediatrician who had a.s.sessed Walker at the age of two in Philadelphia-the doctor who told me that, as far as knowing how to be in the world, Walker was miles ahead of the rest of us.) Unfortunately, the astonis.h.i.+ng results demonstrated in rats weren't replicated in humans. The halting progress of genetic research was a given, and hardly cause for discouragement. What was was discouraging was that to a laboratory geneticist who studied CFC as a genetic disorder, the syndrome was always discouraging was that to a laboratory geneticist who studied CFC as a genetic disorder, the syndrome was always only only that: a disorder, an unfixable spelling mistake in the grammar of humanness. I understood that stance, and also hated it. Seeing Walker only as a genetic disorder was a guaranteed way for me to remember that there is such a thing as genetic that: a disorder, an unfixable spelling mistake in the grammar of humanness. I understood that stance, and also hated it. Seeing Walker only as a genetic disorder was a guaranteed way for me to remember that there is such a thing as genetic order; order; that for each Walker, there are millions of genetically complete children. In a genetics lab, Walker would always be a deleterious effect of nature and evolution, and little more. that for each Walker, there are millions of genetically complete children. In a genetics lab, Walker would always be a deleterious effect of nature and evolution, and little more.

As Walker's test results wandered back to the lab in the fall of 2008, the genetic testing industry was gearing up for a major burst of hyperbole. In December, Sequenom, Inc., a biotechnology firm in San Diego, announced a new non-invasive prenatal genetic test, to be sold online starting in June 2009. The test licensed procedures developed at Oxford and Stanford universities.

Until Sequenom came along, there was one medical option available to a pregnant woman who had reason to be worried she might give birth to a child with a defect or syndrome: she could submit to a standard blood serum screening test. The blood test was (and is) famously unreliable, and given to false positives: in one study, 136 out of 199 women tested positive for Down syndrome, but only six had a Down baby. Roughly 2 percent of women who test positive at that stage abort the fetus; the rest move on to amniocentesis, a much more accurate but invasive procedure that draws fluid from the amniotic sac, with occasional complications.

Sequenom's new test measured fetal cells in the mother's blood-a non-invasive blood test that was as accurate as amniocentesis and that could be administered a mere ten weeks into pregnancy. So far the test can determine the s.e.x of the baby and screen for Down syndrome and two other conditions, trisonomy 13 (extra material in the thirteenth chromosome, a.s.sociated with Patau syndrome, which can create "events" such as cleft palate, extra fingers, severe r.e.t.a.r.dation, heart defects and cryptorchidism) and trisonomy 18 (clenched hands, heart defects, low birth weight, r.e.t.a.r.dation, undescended t.e.s.t.i.c.l.es, a short breastbone and related muscular deformities in the abdominal wall.*) The company plans to widen the test's capacities to include other disorders such as cystic fibrosis, sickle cell anemia and Tay-Sachs disease. All of which promises less anxiety for pregnant women, especially older ones (or women with older husbands) whose unborn children are at higher risk for genetic disorders.

The test is by no means comprehensive or subtle: it doesn't pick up rarer conditions such as Walker's, whose affliction is far worse than that of the majority of Down children, many of whom live normal, reasonably productive lives. Nor can it measure the severity of a syndrome. Even within the range of CFC children, for instance, there are vast differences in capacity. Walker can't talk or communicate, but Cliffie Conger can, and will very likely live a close-to-normal existence. And yet if Sequenom had a CFC test, it is Cliffie who would show the mutation and pop up on a prenatal CFC test-not Walker. It is Cliffie, the more capable, self-sustaining kid, who would be a candidate for termination. This is a subtlety genetic testing companies do not emphasize in their sales literature.

Nevertheless, the decision to avoid creating such a life in the first place can now be made at ten weeks of pregnancy.* Already in the United States, between 80 and 95 percent of women who receive a prenatal diagnosis of Down syndrome end their pregnancies. The new more accurate blood test will undoubtedly increase that percentage. Result? Down syndrome is en route to endangered status. Meanwhile there are seventy thousand people in the world with cystic fibrosis, and someone with sickle cell anemia-a third of sub-Saharan Africa has the gene-can live to be nearly fifty. Sequenom has both diseases in its pre-emptive sights. Genetic tests are a way to eliminate the imperfect, and all the pain and agony that comes with that imperfection. When Walker was an infant, before he lodged himself in my heart and mind and memory, I spent part of every day furiously wis.h.i.+ng that a test had been available, wis.h.i.+ng that we had had a choice in the matter of his existence, for his sake and our own as well. Now that I know Walker, I am relieved there was no such test, that I didn't have to face the ethical dilemma it may soon present. Because on his good days, Walker is proof of what the imperfect and the fragile have to offer; a reminder that there are many ways to be human; a concentrator of joy; an insistent nudge to pay attention to every pa.s.sing mote of daily life that otherwise slips by uncounted. Already in the United States, between 80 and 95 percent of women who receive a prenatal diagnosis of Down syndrome end their pregnancies. The new more accurate blood test will undoubtedly increase that percentage. Result? Down syndrome is en route to endangered status. Meanwhile there are seventy thousand people in the world with cystic fibrosis, and someone with sickle cell anemia-a third of sub-Saharan Africa has the gene-can live to be nearly fifty. Sequenom has both diseases in its pre-emptive sights. Genetic tests are a way to eliminate the imperfect, and all the pain and agony that comes with that imperfection. When Walker was an infant, before he lodged himself in my heart and mind and memory, I spent part of every day furiously wis.h.i.+ng that a test had been available, wis.h.i.+ng that we had had a choice in the matter of his existence, for his sake and our own as well. Now that I know Walker, I am relieved there was no such test, that I didn't have to face the ethical dilemma it may soon present. Because on his good days, Walker is proof of what the imperfect and the fragile have to offer; a reminder that there are many ways to be human; a concentrator of joy; an insistent nudge to pay attention to every pa.s.sing mote of daily life that otherwise slips by uncounted.

A test avoids all that, for better and for worse.

But if there were a more adequate system of caring for the disabled, if we were less frightened of them, if the prospect of looking after a disabled child did not threaten to destroy the lives of those doing the caring-if we had such alternatives, would we need a test at all?

I finished reading the newspaper story about the new test and got up to do the dishes. Johanna was making a Cobb salad. "What do you think of a test like that?" I said.

She took a long time to answer. "If there'd been a test when I was pregnant that revealed what Walker's life would have been like, I would have had the abortion."

I didn't say anything. I'd made a chocolate cake earlier that morning, and was now trying to sc.r.a.pe the hardened chocolate off the beaters I'd used.

"We were young, we got pregnant right away," she continued. "There was every chance we could have had another, normal child." A normal sibling for Hayley, an ally against us when our daughter needed one.

"But then you wouldn't have had Walker," I said.

Johanna began to move around the kitchen faster. She was stalling, that was obvious. Finally she said, "You can't say, after I've known Walker, would I have done something to get rid of him? It's one thing to abort an anonymous fetus. It's another to murder Walker. A fetus wouldn't be Walker."

"What do you think the world would be like without people like Walker-without kids like him, I mean, kids who have real setbacks?" This is not so unreal a possibility, given the sophistication of prenatal testing.

"A world where there were only masters of the universe would be like Sparta. It would not be a kind country. It would be a cruel place."

"So he has taught you something."

"He made me realize how good we have it, most of us, most of the time-how we think we have problems, but we really don't, compared to him."

More scrubbing, chopping. "But I'm not the person to ask," she said. "I don't think I'm a very good person."

"What do you mean? You're a perfectly fine person."

"I couldn't cope with being with him. I still have mixed feelings about everything I've done and everything I haven't done."

She was his mother, after all, but she had not saved him. Nor had she become one of the full-time disability moms who never stopped researching and defending their disabled child. Did she have more of an obligation to stay at home with a r.e.t.a.r.ded child than a woman who stayed at home had an obligation to work and be part of "normal" society? I didn't think so. Johanna had been a superb mother, had done everything there was to do and had done it well, but she was convinced it was not enough. Certainly the world had ignored her plight, but it never let her believe she was guiltless either. A lot of CFC mothers felt the same way. Amy Hess and Molly Santa Cruz did, for instance, and they had stayed home to boot, had become the most proactive super disability-moms I knew. But there was no escaping their guilt: it lived deep in them, deep in the germline of the maternal. Johanna was Walker's mother, the human being out of whom his flawed and aching body had emerged. She could not think about his brokenness, it called that yelping sadness up from within her, and yet she could not ignore him either. The best she could do was to stay calm, keep busy and moving, keep caring without asking herself too many questions. It was a delicate trick. Like trying to walk in high heels over a grate in the sidewalk, except that the grate pa.s.sed over h.e.l.l and eternal d.a.m.nation.

When she spoke again she said, "I don't know what Walker's value is to the world. I'm not sure that I agree that his lasting value is to have touched people. That his whole life has to be this f.u.c.king Gandhi thing, making people feel better about themselves. I don't think his life should only have value because he makes other people feel more contented with their own lives. I think his life should have a value of its own."

"No, I'm not suggesting that either," I said. "He might make some people think that way, but his life is a life. Regardless."

"I don't have any problem with group homes or with him living as he does," Johanna said, speaking faster now. "The only problem I ever had with his life was when he was in pain. I couldn't stand it, it was unbearable. Unbearable pain, and not sleeping."

"You know," I said then, "there was no way we could do it alone."

"Emotionally, I still think if I was any kind of a mother he would still be at home." She paused, and then the snap happened, as I knew it would. "I don't feel like his mummy any more. I'm not the person he turns to now." She was crying, I could tell without looking. I could feel her start to go, as if the floor of the house were falling away.

"He turns to others." It was the best I could do.

Yes, yes, she was nodding, there was that. "As long as someone loves him every day, I don't care who it is." Sobbing now, one of her fast, efficient sobs.

He was an emptiness, a hole in our lives that would always be there. He was here with us and now he wasn't. Did facing the wound every day make us better people? No. Did we have a choice? No. Did it make us remember the wound? Yes. Does that change anything? I don't know.

*Notice how many of these symptoms are shared with CFC, Costello and Noonan syndromes (to name just a few candidates), despite the fact that they are a.s.sociated with radically different genetic and chromosomal causes. Thinking about these similarities often drove me to distraction. According to the popular model propounded by geneticists, each gene leads to a different effect-that's how geneticists can a.s.sociate different diseases with different genes. But all sorts of different genetic syndromes share a number of effects, heart problems, mental r.e.t.a.r.dation and facial disfiguration being common to many. How can distant locales in the human genome produce the same effects? (And I am more and more astonished by how similar children with genetic defects are, especially when mental r.e.t.a.r.dation is a symptom.) Obviously the model that genetic science uses to announce its discoveries-gene A causes condition B!-is much too simple to explain how complicated genetic interactions really are. My concern was this: Does an oversimplified model of how a human being comes to be result in an oversimplified model of what a human being is?*On April 29, 2009, Sequenom announced that the launch of its Down test would be delayed due to "employee mishandling of data and results." The price of the company's shares nosedived from $14.91 a share to $4.69. Five days later, on May 4, 2009, a cla.s.s action shareholder lawsuit was launched in California district court against the company and its officers for "false and misleading statements." There are other companies, however, that claim to be developing similar tests.

eleven.

As long as someone loves him every day.

Who will that be? That is the question.

Like Molly and Eddie Santa Cruz as they tentatively entertained the frightening idea of a group home, like Brenda and Cliff Conger as they argued with Brenda's stepmother to secure Brenda's father's home for Cliffie, like Fergus and Bernice McCann as they looked at the large house they had finally bought for their Melissa and wondered where they would find someone to share it with her-like all of them, as much as I think about getting through the days with Walker, I think more about the future. Who will care for Walker after we are dead?

Johanna and I never entertained the idea that Hayley would "inherit" Walker. This was no reflection on Hayley. I had no doubt she would take a lifelong interest in her brother. Her affection for him guaranteed that, and she wasn't one to walk away from an obligation. If anything she was too dutiful, a serious person made more grave by years of living in the often lonely shadow of Walker's need. (At fifteen, she wanted to work in Africa, building houses for orphans.) But I knew how much work Walker required, and how impossible it was for one or two or three or even four people to care for him adequately, to do everything that needed to be done, and still live productive, engaged lives in any other way. Hayley's life was her own; that, at least, was a gift we would give her. I refused to cover her with the thick, wet cloak of guilt under which many families of disabled children operate-a swamp of irrationality that has afflicted social thinking about disability for millennia. My wife and I often discussed having more children (definitely one, occasionally two)-brothers and sisters for Hayley and Walker-allies to insulate him from the world, but also to dispel our guilt. There are political factions and even entire governments that tap into this guilt and suggest that family is the only real solution to the problem of caring for the disabled.

But families, like disabilities, are not uniform or consistent. They're anything but perfect. No one asks to join them, and more than half the time they don't last. As a result-this was my thinking-the nuclear family is no model for a system to care for the severely disabled. Even if I did decide to provide lifelong care for Walker through the vehicle of a large primary family-and I'd need at least six kids living all their lives in the same place to take care of him properly-is that a responsible (never mind realistic) choice, in an overburdened, overpopulated world?

My mind raced around these ideas like a Jeep circling a minefield.

The truth is, even the best care available left me riddled with doubt. Walker's group home was and is the best of its kind. But what if its funding failed? And was it the best of all possible places for Walker to be? The fact that Walker had a second home where he was cared for in ways we couldn't manage didn't stop me from wanting to improve it (as wary as I am of even mentioning the fact, for fear that what he has will somehow be taken away from him-a special brand of anxiety that plagues every parent who has a disabled child in care). Walker's home is run by an organization that offers a.s.sisted living at a thoroughly professional level. But how does one make a professional operation a home as well-a place full of compa.s.sion where people are forgiven endlessly, to use Mother Teresa's definition? Walker had a home where he was taken care of, but was it also a family? Would the place he was cared for after we died also feel like his his home, occupied by a group of friends and measured by the collective inner life created by its residents? home, occupied by a group of friends and measured by the collective inner life created by its residents?

That was the kind of home I wanted for Walker. There was a group of forward-thinkers in British Columbia known as the Planned Lifetime Advocacy Initiative, which developed networks of contacts and friends around pods of disabled individuals. It was a newfangled notion, however, and far away, and still required, from what I could see, a battle for money that I didn't know how to win. More to the point, I had to contend with my own skepticism. I found it hard to believe a place existed that would let my son live his life as he could, and regard him well for it.

But in the spring of 2008, after I published a story about Walker, I received a letter from a man named Jean-Louis Munn. He was the communications director of the Canadian branch of L'Arche, an organization based in France that operated a string of 135 communities for the intellectually disabled that stretched from Toronto to Kuwait. They weren't an option for Walker: the waiting list was twenty years long and they accepted only adults. But Munn wanted me to visit him in Montreal. There, in a former church hall in Verdun, a working-cla.s.s community on the southern edge of the city, I saw for the first time the outline of the unthinkable community I was looking for. In that community, I was the stranger.

The church hall was the administrative centre of the Verdun branch of L'Arche. L'Arche had been founded in a single house in France in 1964 by Jean Vanier, the son of Georges Vanier, a famous Canadian diplomat. A lifelong student of philosophy and Catholic theology, Jean Vanier still lived in the village of Trosly-Breuil, where he ate lunch most days with his disabled companions.

That was in France. In Montreal, ma.s.s was being served in the bas.e.m.e.nt of the church hall when I arrived. L'Arche had been founded on Catholic precepts (another reason I had avoided L'Arche as a possibility for Walker, though the organization has since widened its spiritual foundation). But the ma.s.s in the church bas.e.m.e.nt was unlike any I'd ever seen-more along the lines of a village meeting, held in a pub over a raucous meal, with a satire of a church service thrown in for entertainment.

The altar was tucked into a corner where a stairway met a wall; the equivalent of the vestry was simply a s.p.a.ce cordoned off by office dividers. A tall black priest in white vestments and a coloured scarf was administering the Host in a loose approximation of the liturgy. The service didn't seem to have a strict beginning or end. The priest was alternating between French and English, and talking about Jesus and his flock. Every once in a while he asked a question, and someone called out an answer.

"Why do we say Jesus is a shepherd?" the priest asked.

"Jesus has people who follow him, like sheep, right?" This from a thirtyish man standing halfway back in the congregation. He was wearing a black hockey jersey with Canada Canada across the back in red script. Several jokes about sheep ensued. across the back in red script. Several jokes about sheep ensued.

There were twenty-one people in the corner of the church bas.e.m.e.nt, all adults, most of them evidently handicapped. Three spun around to examine me as I walked in; two immediately reached out to shake or hold my hand. I didn't know what they expected of me.

"Where else have we heard these words, about Jesus being a shepherd?" the priest asked.

"Bap-bap-baptism with Jesus?" someone stuttered.

"Oh!" the priest said. More applause, then acknowledgment of that applause with even more applause.

A band-two guitarists and a drummer-began to play, accompanied by a steady chorus of coughing and airway-clearing; the service might as well have been held in a tubercular ward. A woman in front of me-short, stooped, in her sixties, her mouth permanently open-looked at my tie and whooped, loudly. Another man walked back to me and said, "I'm praying for you." I have to say I felt I could use the help. "What's your name?" he added in French, as an afterthought. We stood for the interdiction and the tie-whooper reached back for my hand; she did not want to let it go. I worried about germs, briefly. They wanted to be friends.

In front of me, the man in the hockey jersey (I later learned his name was Ricky) reached his arm around Richard, an older, balder man standing beside him. Richard was wearing a black sweater and checked s.h.i.+rt and a thick strap of black elastic to hold his gla.s.ses on. Ricky squeezed his pal, and whispered something in his ear. The older man sighed and said, "Ohhh! I like you too."

There were seven L'Arche a.s.sistants in the group, one for every two residents, and that seemed to be sufficient. One of the a.s.sistants, a First Nations woman in her twenties, put her face down to the face of the man with Down syndrome beside her, and then touched his forehead with her finger. Every so often, Jean-Louis Munn, my host, recognized someone in the crowd and gave me a nudge and an update. "When he came twenty years ago," he said, gesturing with his head to a tall, still man in a green s.h.i.+rt, "he was so nervous his hands were always curled up into fists." Now the man seemed content to dispel his anxieties with only a little lip-licking.

Just as suddenly, the service was over. People began pulling on their hats, an astonis.h.i.+ng array of cla.s.sic Canadian winter headgear, caps with vast bills and peaks and ear coverings like mud flaps and hoods that dwarfed their heads.

Ricky stepped up to me with his arm linked in Richard's; Richard was making a farting noise with his lips. "This is Richard," Ricky said to me. "He was in my foyer foyer. We used to sleep together." He meant in the same room in their L'Arche residence. L'Arche calls its houses foyers foyers, after the French word for "hearth."

It was like being in a novel by Balzac or even Hugo, with outlandish, unforgettable characters everywhere. Surrounded for the first time in my life by intellectually disabled adults I had only just met, I suddenly realized I didn't feel nervous.

My anxieties resurfaced as Jean-Louis Munn led me through the streets of Verdun, in south Montreal: we had been invited to dinner at one of the five homes, L'Arche maintains for the disabled in the area. A huge blizzard had engulfed the city the day before, and the evening streets were full of people digging out their driveways. I had no idea where we were going, what to expect, what was expected of me. Eventually we pulled up in front of a tidy two-storey house. Jimmy Davidson greeted us at the door-a stocky guy with red hair and Down syndrome. He had his pajamas on-blue flannel Power Rangers bottoms and a matching T-s.h.i.+rt top, and slippers. "I'm so totally relaxed," Jimmy said, and then he shook my hand. He was forty-five years old.

There was a picture of the Last Supper on the wall, the sort of icon that always gets my guard up, as well as a bulletin board, yellow cupboards, plants-it was a lived-in place. In addition to the house's three a.s.sistants (caregivers in L'Arche homes are always called a.s.sistants) and Jimmy, four other residents (as the disabled are known in L'Arche homes) sat down with us for dinner at the pine kitchen table: Marc, a middle-aged man who smiled a lot but said nothing; Sylvie, who also never spoke; Jadwega, a woman in her sixties who had cooked the meal and who could remember numbers, but not many faces; and Isabelle, a calm young woman in a wheelchair with what was clearly a form of cerebral palsy. Isabelle sat at the end of the table. She couldn't move her arms or legs or change the angle of her head, or speak-but she followed everything, including the conversations, with her eyes, and often smiled benignly on the proceedings.

A tide of awkwardness rose around me, but I didn't have much time to think about it, because Jimmy, who was sitting beside me-I had the place of honour at the head of the table-was peppering me with questions about which Power Rangers I liked and did not like, and I was peppering him with questions in return. I asked him how long he had lived in the house.

"Two years in the house," he said.

"Where did you live before?"

Jimmy couldn't remember. "With, um," he said. And then: "With my mother." His mother came to visit every week. He got serious when he talked about her.