The Boy in the Moon: A Father's Search for His Disabled Son (20 page)

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 association 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, associated 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 Japan 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 space between his eyes (they are wider apart than those of most CFC kids), noted his coarser 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 retardations, 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 Wang, the developmental pediatrician who had assessed 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 astonishing 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
discouraging was that to a laboratory geneticist who studied CFC as a genetic disorder, the syndrome was always
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
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.

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 sex of the baby and screen for Down syndrome and two other conditions, trisonomy 13 (extra material in the thirteenth chromosome, associated with Patau syndrome, which can create “events” such as cleft palate, extra fingers, severe retardation, heart defects and cryptorchidism) and trisonomy 18 (clenched hands, heart defects, low birth weight, retardation, undescended testicles, 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 wishing that a test had been available, wishing 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 passing 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?