She Has Her Mother's Laugh: The Powers, Perversions, and Potential of Heredity (17 page)

Pearl continued publishing at an industrial pace. But her literary reputation had grown dim. The men who came to dominate American mid-century literature treated her writing merely as women's novels. Pearl tried to write about life in the United States, but readers thought of her only as a chronicler of China. She also made a growing number of enemies with her political activity. Even at the height of World War II, she criticized the American government, asking how the United States could fashion itself as the enemy of fascism when it accepted white superiority at home and promoted imperialism abroad. After the war, the FBI decided she was a Communist in spirit if not in party membership.

Pearl could sense that hostility was growing around her, but she didn't stop working for her causes. She even took up new ones. Having adopted five children, she spoke out against orphanages and foster homes. Before she knew it, a desperate mother had dropped off a child at her farm. Pearl responded by creating a private adoption agency specializing in finding homes for Amerasian children who were rejected by both sides of their
family. Pearl raised money for the research at Vineland, and by the 1940s she was in charge of fund-raising for the entire school.

One of the fund-raisers she worked with urged her to publish something about Carol, to help draw attention to the school. At first, Pearl found the requests intensely annoying. But eventually the fund-raiser won her over. She sat down and began to write about Carol. “
I have been a long time making up my mind to write this story,” she began.

Pearl presented a clear-eyed account of Carol's childhood and her own pain, shame, and reconciliation. She confessed to thinking how her daughter might be better off dead. She recounted how she learned to stop blaming Carol for what was not her fault, and to recognize her right to develop her mind as far as nature would allow.

“
It was my child who taught me to understand so clearly all people are equal in their humanity and that all have the same human rights,” Pearl wrote. “
Though the mind has gone away, though he cannot speak or communicate with anyone, the human stuff is there, and he belongs to the human family.”

Pearl published her essay in
Ladies' Home Journal
in May 1950
,
and it was later released as a short book called
The Child Who Never Grew.
All the royalties went to the Vineland Training School. In 1950, when intellectual developmental disability was still a source of shame and confusion, her frankness was nothing short of astonishing, especially coming from a bestselling, Nobel Prize–winning writer.
The Child Who Never Grew
was translated into thirteen languages, and Pearl got mailbags full of letters from parents of children like Carol. She answered every one.

At the end of the book, Pearl called for better care for people like Carol and urged that more research go into understanding intellectual developmental disorders, pointing to the work carried out at Vineland as an example of what needed to be done. She highlighted Goddard's intelligence testing and the Vineland Social Maturity Scale.

It's telling that Pearl didn't mention the research that first brought the Vineland Training School to international attention: Goddard's study of heredity. In fact, Pearl took great pains to scrub Carol's story clean of any possible hereditary taint. She declared that there was no trace of mental
retardation in her own family or in Lossing's. Carol's story, in other words, had nothing to do with the other famous tale of a Vineland student,
The Kallikak Family
. “The old stigma of ‘something in the family' is all too often unjust,” Pearl wrote.

Unbeknownst to Pearl, there was something in the family after all. It was not an inheritance of sin or degeneration, however. It was a hereditary disease. In fact, a doctor had come to Vineland a decade before Pearl published
The Child Who Never Grew
and correctly diagnosed Carol with the disorder. No one had told Pearl, and she would have to wait another decade to find out for herself.

Eight years after Pearl Buck gave birth to Carol, a woman in Oslo named
Borgny Egeland had a girl of her own. Liv Egeland seemed a healthy baby at first, although Borgny was puzzled by the odor of her hair, skin, and urine. It reminded her of a horse stable. Her puzzlement turned to worry as Liv reached age three unable to utter a single word. Yet her doctor, finding nothing wrong with Liv, told Borgny to give her more time.

Unlike Pearl Buck, Borgny Egeland was able to bear another child. In 1930, she gave birth to a son, Dag, who gave off the same musty odor as Liv. And later he also failed to learn how to speak. Borgny searched for a doctor who could explain this bizarre coincidence. By the time Liv was six, she could say only a few words and had trouble walking. Dag, now four, couldn't talk at all. He was unable to eat, drink, or walk on his own.

The doctors Borgny consulted had no explanation for why both of her children had developed the same symptoms. Nor could they offer any treatment. Borgny refused to share their resignation. She kept visiting doctors until she ran out of names, and then she paid a woman to give her children baths in herb-soaked water. She sought help from a psychic. Finally, Borgny learned that her sister was acquainted with a doctor at Oslo University Hospital who was an expert on metabolic disorders. She asked her sister to contact the doctor, named Asbjørn Følling, to see if he thought their odor and their intellectual development were linked.

Følling had never heard of such a thing. He doubted he could help, but he didn't want to disappoint Borgny after she had suffered so much. He invited her to bring the children to see him. The exam revealed nothing new. But Følling also asked Borgny to bring him some of Liv's urine so that he could carry out some chemical tests to track down the source of the odor.

Følling carried out his experiments in a makeshift lab in the attic of the medical ward. He added drops of ferric chloride to Liv's urine to test for diabetes. If Liv had the disease, it would turn purple. Instead, her urine turned green. Følling had never seen such a thing. He hadn't even heard of such a thing happening before. Baffled, Følling asked Borgny to bring him some of Dag's urine. When Følling ran the test again, the urine shimmered green once more.

Følling searched through the medical literature for an explanation, but no one had ever observed the reaction. He wondered if Borgny was giving her children aspirin or some other medicine that was tinting the urine. As a test, he asked Borgny to keep her children off any medication for a week. When he experimented on their urine again, it still turned green.

It took two months of experiments—and twenty-two liters of Egeland urine—for Følling to finally find the cause. The children's urine was loaded with a compound not found in healthy people—a cluster of carbon, oxygen, and hydrogen atoms known as phenylpyruvic acid.

Based on his deep knowledge of human metabolism, Følling came up with a hypothesis to explain the strange chemistry. Proteins are made of building blocks called amino acids. One amino acid is called phenylalanine, which people must get from their food. Any extra phenylalanine people don't use to make proteins gets broken down by enzymes in the liver. Følling reasoned that the Egeland children were not breaking down their phenylalanine. Somehow, the rising level of phenylalanine harmed the children. Some of it was converted into a similar molecule, phenylpyruvic acid, and washed out of their bodies in their urine.

To test his idea, Følling examined other children with similar symptoms. He ended up finding the green signature in the urine of ten patients in total. They included three pairs of siblings—a coincidence that led Følling to suspect the condition was a hereditary disorder.

Yet Følling could plainly see that Borgny Egeland and all the other parents of these children were healthy. Some of them had other children who were healthy as well. The disorder must be caused by a recessive factor, Følling reasoned. Each parent was a carrier, with one defective copy of some unknown gene, and some of their children had the misfortune of inheriting a bad copy from both of them.

Følling found support for this hypothesis when he followed up with two parents, each of whom had gotten remarried. Between them, they had twelve more children. All of their offspring from their new marriages were healthy, and none of them had urine that turned green. The recessive factor was probably very rare in Norway, Følling reasoned, meaning that the odds of marrying two people who were carriers was next to zero. The children of the second marriages might inherit one recessive factor at most, meaning that they could not develop the disease.

Følling quickly wrote up his discovery and gave the disease a name: imbecillitas phenylpyruvica. Not since Archibald Garrod had discovered that the black urine of alkaptonuria was a hereditary disorder had someone found such a clear-cut case. Yet few scientists paid Følling's 1934 paper much notice. He could not say precisely what was wrong in people with the disease. Nor could he account for how a problem with phenylalanine could affect the brain.

Only a small circle of scientists who studied intellectual developmental disorders recognized how important his findings were. Even if imbecillitas phenylpyruvica was rare, it still represented what Henry Goddard had been chasing after: a hereditary cause of feeblemindedness. Følling's study was even more significant because he had invented a straightforward way to give a precise diagnosis.

One of the first doctors to take up Følling's test was a British doctor named
Lionel Penrose. Although only in his mid-thirties at the time, Penrose had already become a leading expert on intellectual developmental disability in Britain. He had climbed the ranks swifly, having come late to medicine. Penrose had started out studying mathematical logic at Cambridge, and then he traveled to Vienna to investigate the psychology of mathematical thinking. When that work hit a dead end, Penrose got curious about mental
disorders and what they might reveal about the mind. At age twenty-seven, he returned to Cambridge to study medicine. Four years later, now a freshly minted MD, Penrose became a medical research officer at the Royal Eastern Counties Institution at Colchester, a home for “mental defectives.”

Penrose entered the profession as a passionate critic of eugenics, dismissing it as “
pretentious and absurd.” In the early 1930s, eugenics still had a powerful hold on both doctors and the public at large—a situation Penrose blamed on
lurid tales like
The Kallikak Family
. While those stories might be seductive, eugenicists made a mess of traits like intelligence. They were obsessed with splitting people into two categories—healthy and feebleminded—and then they would cast the feebleminded as a “class of vast and dangerous dimensions.”

Penrose saw intelligence as a far more complex trait. He likened intelligence to height: In every population, most people were close to average height, but some people were taller and shorter than average. Just being short wasn't equivalent to having some kind of a height disease. Likewise, people developed a range of different mental aptitudes.

Height, Penrose observed, was the product of both inherited genes and upbringing. He believed the same was true for intelligence. Just as Mendelian variants could cause dwarfism, others might cause severe intellectual developmental disorders. But that was no reason to leap immediately to heredity as an explanation.

“
That mental deficiency may be to some extent due to criminal parents' dwelling ‘habitually' in slums seems to have been overlooked,” Penrose said. He condemned the fatalism of eugenicists, as they declared “there was nothing to be done but to blame heredity and advocate methods of extinction.”

The wrongheaded ideas of eugenicists led them to wrongheaded solutions, such as sterilization. Even if a country did sterilize every feebleminded citizen, Penrose warned, the next generation would have plenty of new cases from environmental causes. “
The first consideration in the prevention of mental deficiency is to consider how environmental influences which are held responsible can be modified,” Penrose declared. He
suspected that many cases of mental deficiency were caused by a mother's syphilis or X-ray tests during pregnancy.

At Colchester, Penrose launched a study he hoped would lead to more humane, more effective treatments for intellectual developmental disorders. He set out to classify the disorders and determine some of their causes. Over the course of seven years, he examined 1,280 subjects and carefully studied their families as well. Drawing on his expertise in mathematics, Penrose developed sophisticated statistical methods to search his data for links among mental deficiency, heredity, and the environment.

As soon as Penrose heard of Følling's discovery, he wanted to try it out for himself. It was so simple, he later wrote, that it was puzzling no one had discovered it before. Penrose ordered that urine from 500 patients at Colchester be put to Følling's test. Out of those samples, 499 did not change color. But
a single sample turned green.

The emerald urine belonged to a nineteen-year-old man who had never walked or talked. He spent his days rocking back and forth, his wasted arms and legs bent close to his body. After the test, Penrose paid a visit to the man's family. His parents were hardworking and healthy, although his father was convinced that people were poisoning him. Their other children were all relatively normal, except their five-year-old son. Like his older brother, the boy could not walk or speak. Penrose tested the urine of the children and found that they were all normal—except the five-year-old boy.

Studying these and other cases, Penrose proposed that a single hereditary factor was responsible for the disorder. While people with two copies of the recessive factor might be rare, he suggested that many more people might have a single copy. When Penrose published his research, he decided not to use the original name for the disease, imbecillitas phenylpyruvica. He preferred a new name coined by his collaborator, Juda Quastel: phenylketonuria. It was, Penrose boasted, “
preferable to the original more cumbersome designation.” That name has stuck ever since, although it's often shortened to PKU—which Penrose called “
an abominable abbreviation.”