The Prodigy's Cousin (25 page)

Ping Lian's communication is still limited. He speaks only a few words at a time.

But the family has seen him express emotion and demonstrate affection—qualities they once worried they would never witness—many times. They rejoiced when, while still a small child, Ping Lian rushed to soothe a crying baby at a shopping center. After his father and grandmother died, Ping Lian told his mother that he missed them—an unexpected communication of deep emotion. When he goes to sleep, he tells his mother that he loves her, and sometimes he gives her a kiss. He lets Sarah hug him.

He's less hyperactive. He uses the computer and plays the piano. He washes food, cleans dishes, hangs clothes on the clothesline, and vacuums the house. He loves traveling to new cities and staying in nice hotels. Just as Sarah hoped, Ping Lian's art helps him to express himself; it helps him find common ground with other people. It has improved his self-esteem.

From Sarah's perspective, Ping Lian's autism has had a positive impact on the rest of the family. He is on a unique journey; his talent is a gift from God. As she sees it, working with Ping Lian has molded her and her daughters into more patient and compassionate people. Life has many challenges, but as she once wrote, it has “
become so meaningful and purposeful.”

Training the talent isn't usually a formal therapy that comes with a professional therapist and detailed instructions for parents. In most cases, it's a somewhat ad hoc approach to autism. The basic idea is to identify autists' strengths and interests, help to develop them, and use
those areas of interest to engage and teach the individual.
It's an intriguing approach to autism, but it needs to be scientifically vetted for effectiveness. While behavioral therapy has been put through many, many studies, and some of the
newer models of behavioral therapy (and another variety of therapy, Floortime) share some common ground with training the talent, no controlled experiments comparing training the talent with other therapies have yet been published.

The delay in exploring training the talent as a comprehensive autism treatment may stem from the fact that it involves developing autists' obsessions, which have historically been somewhat neglected by researchers.
Though a tendency toward obsession is a widely recognized autistic trait (and included in autism's diagnostic criteria), these obsessions are the subject of far less research than autists' social and communication abilities. At least a few scientists, moreover, view autistic obsessions as an impediment to overall development. Some have proposed that when these obsessions take the form of a savant-like skill, there might be a trade-off between the development of that skill and the development of communication and social skills.
Kanner, for example, questioned in his 1943 paper whether the pride that his autistic patients' parents took in their children's extraordinary memories—a pride that he believed led these parents to “stuff” their children with information—interfered with his patients' communication skills.
More recently, scientists considering the case of a savant artist questioned whether the time he spent painting and building models—solitary pursuits—impeded his linguistic and social skills.

Like Sarah Lee, many parents adopt a train-the-talent approach to autism not at a scientist's or a therapist's recommendation but out of an intuition that allowing their children to pursue their interests may prove engaging and beneficial—or at least soothing. There's some reason to think that they may be right.
There's evidence that, in contrast to individuals with obsessive-compulsive disorder, who tend to experience their obsessions negatively, autists find time spent pursuing their obsessions enriching and enjoyable. These strong
interests can also serve as common ground for friendships and social connections.
Several small studies have found that incorporating autists' obsessions into games increases the children's social interactions with peers and siblings;
others have found that using obsession-related rewards improves autists' performance on tasks, reduces tantrums and aggression, and increases social interactions. Stories like those of Jacob Barnett and Ping Lian Yeak, moreover, turn the idea of a trade-off on its head. In both cases, developing special skills
promoted
social interaction and life-skills development.

This idea has really been around since the beginning of autism research.
In 1944, in his first published paper on autism, Hans Asperger described an autistic child who was clumsy, failed to recognize close acquaintances, and ignored school subjects that didn't interest him. Despite these challenges, he was able to parlay an all-encompassing interest in math and shapes into an academic astronomy career.

In 1971, Kanner published a follow-up study in which he investigated the status of his original autistic patients. The patients whom Kanner identified as “
the two real success stories” both had caregivers who intuitively trained their talents. As a child, Donald T. was withdrawn, obsessed with spinning objects, and prone to temper tantrums. A couple who took him in for several years channeled his interests in measurements and numbers: in their care, Donald dug and measured a well and learned to plow corn while counting the rows. Later in life, he secured a job as a bank teller. The second success story, Frederick, was slow to speak and had limited interest in people as a child, but his parents and the instructors at his school helped him build his social skills based on his interests in music and photography. He ultimately received vocational training running a copy machine; he, too, held a steady job.

The savant expert Darold Treffert cites training the talent as the approach adopted by the families of many of the savants with whom he has worked, as does Becker.
Temple Grandin, the famous animal
scientist and autism activist, urges parents to develop their autistic children's talents.

Not every child, of course, has or will develop a skill on which this technique could be used effectively. Training the talent isn't necessarily a substitute for other kinds of therapy, nor is it a mind-set meant exclusively for autists. But it's an orientation toward autism that seeks to develop the individual's capabilities and interests, and it emphasizes autists' strengths rather than their challenges.

It's still early days for training the talent. It needs to be further developed, standardized, and tested on large samples. But even once such programs are built and have been rigorously examined, investigating different therapies still only gets you halfway. It's likely that a train-the-talent approach to autism, just like behavioral therapy, will be more effective for some kids than for others. Behavioral therapy, for example, might be highly effective for those with particular types of underlying biology, but less so for those whose autistic symptoms stem from different biological roots.

The idea here isn't to endorse train the talent as an alternative to other autism therapies. It's to point out the practical importance of the ongoing basic science efforts to identify the underlying differences between autists and the specific mechanisms that can lead to autism. Eventually the findings that stem from this work may allow for more precise choices regarding intervention type and frequency. Trying to find a treatment that works for everyone based solely on similarity of symptoms is like trying to treat all people who have trouble breathing by giving them the Heimlich: it will help those who are choking, but it's probably not the best answer for a person having an allergic reaction.

To make informed decisions about treatment, you first have to know what underlying condition you are trying to treat.
Until scientists parse out the different mechanisms that lead to autistic symptoms, there's no way to predict which course of treatment will work
best for any individual (or to predict who will recover from autism and why). There's no way to tell, for example, who's an Alex, a child who may respond extremely well to behavioral therapy, and who's a Jacob Barnett or a Ping Lian Yeak, a child who may respond much more dramatically to efforts to support and develop his interests. The need to make optimal treatment decisions is one more—very pressing—reason for research to focus not just on autism's behavioral symptoms but also on the genetic and biochemical abnormalities that lie beneath. As Insel put it in a 2014 blog post about autism, “
The best way to better services will be through better science.”

The possibility that there may be a genetic link between prodigy and autism then suggests an interesting question: Could the way to better science be paved by child prodigies?

Child prodigies have long been a riddle, their abilities a great unanswered question. David Feldman and Martha Morelock once complained—only somewhat facetiously—that “
divine inspiration, reincarnation, or magical incantation” were the best explanations for child prodigies that science had to offer.

From the day Joanne met Garrett James and his cousin Patrick, she has been tackling one particular piece of the prodigy puzzle: Does the cousin's autism have something to do with the prodigy's talent? The answer seems to be yes. Many of the prodigies have autistic relatives. Brothers. Sisters. Uncles. Grandmothers. Some have autism in every twig and branch of the family tree. The prodigies themselves—all of them—have autistic characteristics, such as extraordinary attention to detail and a tendency toward obsession. They draw on these traits to rocket to the top of their fields; these attributes are essential to their success. Prodigies and autists may even have a genetic link in common, a mutation on chromosome 1 that some prodigies and autists (but not their non-prodigious, non-autistic relatives) share.

This connection is fascinating; it offers an unexpected perspective on the riddle of the prodigies' talent and an intriguing take on what drives children to hone their skills with laser-like focus and intensity. But understanding child prodigies' abilities is only the first step; the next is to find out whether this connection could improve our understanding of autism. Doing that requires investigating why it is that the
prodigies have the strengths associated with autism but not the challenges.

The answer may be in the prodigies' genes. The prodigies and the autists appear to share genes on chromosome 1—a common foundation. But what if the two also have critical genetic differences? What if there is something about the prodigies' genes that protects them from autism's social and communication deficits but leaves the heightened attention to detail, astounding memory, and passionate interests of autism in place? If the prodigies and the autists share a genetic mutation
and
have important genetic differences, maybe studying the prodigies could unlock a piece of autism's infamously complex genetic architecture. It could mean that a breakthrough in autism research will come not from studying autists, but from studying child prodigies.

This sort of thinking has recently lit other areas of medical research on fire. For decades, scientists sought to learn more about conditions ranging from diabetes to heart disease by studying those who
have
diabetes or heart disease. Scientists rooted through the underlying biology of those with various medical conditions to try to understand what, exactly, was going wrong.

But recently scientists have begun looking in the other direction as well. Instead of focusing solely on those who are sick, they've taken a keen interest in those who are well—especially those who are at high risk for a particular disease, due to genes or lifestyle or both, but don't develop it. The idea is that if the scientists can isolate whatever it is that protects these inexplicably healthy individuals from the disease in question, perhaps they can use that knowledge to help those who actually have the disease.

HIV research is a good example of how this works in practice. To explore the potential implications of this strategy, it's worth taking a detour through the history of HIV research and considering whether a similar road map could lead autism research in an interesting direction.

Not long after AIDS was identified in the early 1980s, scientists began studying individuals with a high likelihood of contracting the virus: homosexual men with many sexual partners; prostitutes in Kenya and Gambia; adults with a history of intravenous drug use. As these studies progressed, the scientists found something unexpected. Even among these extremely high-risk groups, there were pockets of people in whom the virus never took hold.

Take Erich Fuchs and Stephen Crohn, for example. Erich had been exposed to HIV multiple times through unprotected sex with HIV-positive men. Stephen's partner, Jerry Green, was one of the first people in the United States to die of AIDS. Both men fully expected to contract HIV. They thought it was only a matter of time.
But it never happened.

Mystified by their inexplicable luck, Erich and Stephen separately contacted research institutions and doctors, volunteering themselves as subjects. Eventually, both men crossed paths with Bill Paxton, then a postdoc at the Aaron Diamond AIDS Research Center in New York, who was seeking out a group of high-risk, uninfected individuals. “
It was clear the minute I met Erich and Steve—these people should be HIV positive,” Paxton recalled.

Paxton and his colleagues included Erich and Stephen in a group of twenty-five high-risk, HIV-negative individuals and homed in on their underlying biology. The idea was to extract their blood, infect their cells with HIV in the lab, and then figure out how they managed to shut down the virus's ability to replicate. But it was difficult to study virus replication in Erich and Stephen; their cells were nearly impossible to infect with HIV in the first place.
The scientists used ever-increasing doses of HIV, but still the infection didn't take hold. “
We repeated and repeated and repeated because we were throwing
very
high dosage of virus on these CD4+ cells, and we did not see infection,” Paxton said. “We never thought for a minute that would be the outcome.”

When the team later investigated the basis for this resistance, they stumbled onto a gem of a finding: Erich and Stephen shared a genetic mutation. Both had two copies (in scientific terms, they were homozygous) of what became known as CCR5-Delta32. This genetic “defect” prevented these individuals from producing a protein, CCR5, that usually sits on the outside of an individual's T cells and serves as a main entry point for the HIV virus. CCR5 isn't essential to every strain of HIV—some varieties rely upon other means to enter the cell—but for those strains of HIV that rely on CCR5, a double dose of the mutation makes patients' cells essentially impenetrable to HIV; the virus washes right through their bodies.

A search for this mutation in other HIV research subjects yielded some lopsided statistics.
Across three studies, scientists found a few dozen HIV-negative individuals with two copies of this mutation. But no one infected with HIV—not a single one of the 2,741 HIV-positive individuals in these studies—had a double copy of CCR5-Delta32. It seemed that what Paxton and his colleagues had found in the lab was no fluke; the mutation was protecting its carriers from the virus.

Critically, as far as the scientists could tell, there was no price to be paid for this mutation. It resulted in high resistance to HIV, but it wasn't associated with any obvious defects or deficits. It was a genetic gift, no strings attached.

The treatment possibilities were explosive. In the aftermath of CCR5-Delta32's discovery, scientists set to work creating pharmaceuticals that could mimic its function. In 2007, the FDA approved maraviroc, the first of these drugs. It binds to CCR5 and blocks HIV from using it as a cell entryway.

But pharmaceuticals were only the beginning; identifying CCR5-Delta32 had even more astounding implications. Perhaps no one knows this better than Timothy Ray Brown, the first (and, so far, only) person ever cured of HIV—a status he would never have assumed if scientists hadn't taken the unusual step of studying a disease by zeroing in on those who don't have it.

Timothy was a twenty-nine-year-old American expat living in Europe when he was diagnosed with HIV in the mid-1990s.

At first, he was terrified; a former partner predicted he probably had only two years to live. But Timothy's timing was lucky. New pharmaceuticals that effectively managed HIV were coming onto the market around the same time that Timothy was diagnosed. He took the new drugs, his symptoms never really worsened, and he soon realized that HIV might not be a death sentence after all. Timothy continued building his life in Berlin. He got a job translating documents from German into English, and he hit the town at night. His health seemed almost normal.

In June 2006, when Timothy was forty, he flew to New York for a friend's wedding. He made it through the weekend's events—the party the night before, the wedding itself, the dim sum brunch the next day—but he felt exhausted the entire time. That Monday, after he returned to Berlin, he rode his bike ten miles to work, as he often did. The ride took much longer than usual, though. At lunchtime, Timothy tried to ride his bike to a restaurant half a mile away, but he made it only halfway before he was overcome by fatigue.

Timothy was soon diagnosed with acute myeloid leukemia, a rapidly progressing form of cancer. His oncologist contacted a Berlin hospital, where, by chance, he got Dr. Gero Hütter on the phone. Dr. Hütter said to send Timothy in, and he started him on chemotherapy.

In the meantime, Dr. Hütter initiated a search for a potential stem cell donor in case a transplant was necessary. A large number of potential matches turned up; there were eighty matches at the German Bone Marrow Donor Center alone.

Dr. Hütter, who was thirty-seven at the time, specialized in cancer, not HIV, but he remembered learning about CCR5-Delta32 in medical school. The surprisingly large number of matches led Dr. Hütter to wonder if they should perhaps be picky about the donor. Did any of Timothy's potential matches have two copies of
CCR5-Delta32? Could stem cells from such a donor cure Timothy's leukemia
and
his HIV?

Over the course of four months, Dr. Hütter's team tested potential donors for the CCR5-Delta32 mutation. On their sixty-first attempt, they found a match who was homozygous for CCR5-Delta32—just like Erich and Stephen. That individual agreed to donate if and when the time came. Timothy was already heterozygous for CCR5-Delta32 (meaning he had a single copy but not the magic-bullet double copy). It was a long shot, but the hope was that the transplant would leave him effectively homozygous for the mutation and potentially protected from HIV.

As far as Dr. Hütter knew, it would be a first-of-its-kind trial. “We have no experiences of this,” Dr. Hütter recalled. “There were no cases published before, and there were also no animal results, and so we have totally no idea what will happen if we do this.”

But Timothy was ambivalent about the procedure. After chemotherapy, his leukemia was in remission. Stem cell transplants are risky. His medication kept his HIV under control, and the idea of actually
curing
his HIV seemed far-fetched. Timothy initially refused the stem cell transplant. But when his leukemia returned at the end of 2006, he didn't see any way around it.

On February 6, 2007, eight months after he was diagnosed with leukemia, Timothy underwent surgery. He received the stem cells from the donor with two copies of the CCR5-Delta32 mutation. Just beforehand, he stopped taking his HIV medication. The operation went smoothly, and there were no serious complications.

Early on, a couple of tests detected HIV in Timothy's DNA. But soon all the tests were coming back negative; after a few months, there was no trace of HIV in Timothy's body, even though he hadn't taken his HIV medication since his surgery.