The Children Who Self-Destruct

"For as long as he lives, Curtis Thompson’s body will be totally out of control. He can feel pain, but even this will not keep him from trying to destroy himself."

His skinny legs protrude rigidly from an oversized diaper and his arms flap wildly in the air. Like some grotesque
wind-up toy, he rolls first on his back and then on his stomach, relentlessly and spasmodically hurling his body
across the floor, until a wall or a piece of furniture blocks his way. Then, almost as if by reflex action, his
mother leans over, lifts him by one arm, and places him gently back in the middle of the room, where the same
mindless perpetual motion begins all over again.

By the calendar, Curtis Thompson is six years old, the age when other children are starting to school, learning to
read and write, riding bicycles and skipping rope. But Curtis will never do any of these things that ordinary
youngsters do. For as long as he lives – and not even the experts can say how long that will be – his frail, thin
body will be totally out of control, like a runaway machine trying to destroy itself. He will spend his days and
nights flopping on the floor or strapped into a bed or wheelchair when his compulsion to self-destruct becomes too
dangerous to his physical safety. Curtis is completely normal in at least one respect – he can feel pain. He can
feel it as excruciatingly as anyone else, but this will not keep him from bashing his head against the floor or
wall. As he grows older and his condition worsens, he may chew off his fingers if he is not restrained, or gnaw his
lips into mangled shreds of flesh. He may throw himself about with enough force to break his limbs or fracture his
skull. He may have his hands or feet torn off by sticking them into moving wheels or running fans or other moving
objects. He may even attack the doctors and nurses who try to keep him from mutilating himself – and apologize while
he is doing it.

Curtis Thompson suffers from Lesch-Nyhan Syndrome, a degenerative genetic disorder so rare that only about 200 cases
of it have ever been reported. At birth, most of its victims appear perfectly normal, but by the age of three, and
often much sooner, they begin to lose all motor control and their behavior becomes increasingly hostile, mostly
toward themselves. Most parents of Lesch-Nyhan children find the situation too much to cope with and are forced to
confine their children to mental institutions soon after the disease manifests itself. But for the time being, Mary
Thompson, Curtis’ mother, has chosen to keep her son at home.

“I thought about an institution once,” she says, sitting on the frayed turquoise sofa in her small, sparsely
furnished Oak Cliff apartment, “but I changed my mind. When he gets up in years, I may decide to do it, but I’ll
keep him with me for now. He ain’t no trouble.”

She looks down and smiles patiently at her son as he flounders at her feet. Across the room, cowboys and Indians
chase each other across the flickering screen of a decrepit portable TV. Curtis’ little sister, Patricia Ann, a tiny
girl with a huge smile, a red dress and pigtails, is playing happily and occasionally jumping over Curtis and
giggling. She is only four, two years younger than her brother, but she seems much older, by comparison. Mrs.
Thompson reaches down with weary patience and deposits Curtis back in the middle of the floor again.

As incredible as it seems, considering the rarity of the disorder, Curtis is the seventh member of his family to be
stricken with Lesch-Nyhan. An uncle and five cousins were similarly afflicted and a total of 14 female members of
the family have been identified as carriers of the disease. Three of the other affected family members are still
living. Two are confined to mental institutions.

Born December 11, 1970, at Parkland Hospital, Curtis was a sickly infant who had to undergo two operations for
stomach disorders shortly after his birth. But the symptoms of Lesch-Nyhan did not begin to show themselves until he
was a year old.

“Alter the second operation, the doctors told me how Curtis would be,” Mrs. Thompson says. “They told me he wouldn’t
walk and stuff like that. I hated that he’d be like he is, but there wasn’t nothing I could do about it. When he was
a year old, I knowed for sure there was something wrong. He just didn’t do like other babies. He couldn’t crawl or
sit up or nary a thing like that.”

Soon after Curtis’ condition was diagnosed, Mrs. Thompson’s husband deserted her, leaving her to care for five
children alone. “After the doctor talked to us,” she says, with no particular bitterness, “my husband told me he
didn’t want no baby like that, and he packed up and left.”

Now Mrs. Thompson supports her family on $307.80 a month in welfare benefits – enough, she says, to pay the
$160-a-month rent on her apartment, buy food stamps and have “a little something left over to buy a few things for
the kids.” She couldn’t afford a wheelchair for Curtis, but Children’s Medical Center, where he receives treatment,
has filled that need so he can continue going to classes at a neighborhood development center.

“They’ve learned him how to talk,” Mrs. Thompson says proudly, then instructs her son: “Curtis, show us how you can
talk.” Still rolling wildly on the floor, Curtis struggles to raise his head and mumbles the words.

“Car . . . truck . . . ball,” he says. For a moment, he is still, and he smiles up at his mother. Then the perpetual
motion machine within him takes control again. Flopping, literally, like a fish out of water, Curtis Thompson
resumes his endless journey toward the wall.



Because there have been so few cases of Lesch-Nyhan Syndrome reported, Curtis and the other members of his family
who have the disorder – the only cases ever seen in the Dallas area – have served as an invaluable aid to scientists
seeking to understand Lesch-Nyhan, how it is transmitted, how it affects its victims and how it can be prevented in
future births.

Discovered in 1965 by a team of scientists at Johns Hopkins University in Baltimore, and named for its discoverers,
Dr. Michael Lesch and Dr. William Nyhan, the syndrome is an “x-linked recessive disorder.” That is, it is carried by
women and affects only their male offspring. If a woman is a carrier, her sons have a 50-50 chance of being affected
and her daughters have that same chance of being carriers themselves. By definition, carriers can transmit the
disorder to their young, but show no symptoms of the disease.

Lesch-Nyhan is also associated with a biochemical defect in which one of the child’s enzymes is missing, resulting
in an overproduction of uric acid. Before the discovery of a new treatment for this condition, most children
afflicted with the syndrome died before reaching adulthood because this excess uric acid caused kidney failure.

“We can now treat the uric acid problems with a chemical called allopurinol,” says Dr. Peter Sherrod, assistant
professor of pediatrics at the University of Texas Health Science Center’s Southwestern Medical School.
“Unfortunately, the treatment has no effect on the loss of motor control or the self-destructive symptoms. We can
prolong the children’s lives, but we can’t change the way they live.”

At about the same time that Drs. Lesch and Nyhan were unraveling the mysteries of the syndrome, Dr. James F. Marks,
an associate professor of pediatrics at Southwestern, was providing the first medical treatment Curtis’ cousins had
ever received for their disorder. Until that time, there had been no medical help at all for the family, because
doctors simply did not know what they were dealing with.

Curtis’ grandmother, Mary Watson, vividly remembers those days, when the origin of the disorder was still unknown.
Her own son, Nathan – Curtis’ uncle – was born healthy and beautiful, but by the time he was three years old, he was
biting chunks out of his lips and gnawing at his fingers. She dragged him from one doctor to the next, all to no
avail. He died when he was five.

“The sad thing about my son,” Mrs. Watson recalls today, “is that he couldn’t tell me how he felt. I knew he was
hurting because he cried so hard, but he just couldn’t stop biting himself.”

Doctors routinely restrain such children today. In some cases, they also have the child’s front teeth pulled, so
that he cannot chew himself to pieces. But Mrs. Watson had to cope with the problem on her own, and she did the only
thing she could think of to do. She bound her son’s hands with thick strips of cloth.

Not long ago, however, Mrs. Watson, the matriarch of an incredible family, learned that her daughters,
granddaughters and their offspring will no longer have to endure the suffering that she and her son went through.
Now there are new blood and skin tests available, developed by Dr. Barbara Migeon of Johns Hopkins, to determine
when women are able to transmit the disorder to their sons. Eighteen female members of the family recently took the
tests. Nine were found to be carriers. Five others had already revealed themselves as carriers by having defective
children.

Now, when a known carrier becomes pregnant, physicians can perform another test, known as an amniocentesis, to
determine if the unborn child has Lesch-Nyhan. If the fetus is afflicted, the mother can decide if she wants a
therapeutic abortion.

“This whole family has contributed greatly to medical research, and we’re finally able to help them the way they’ve
helped us,” says Dr. Mary Jo Harrod, a geneticist at Southwestern. “Now, if the family chooses, we can prevent other
little boys from going through what so many in this family have had to endure.”

In the ten years since its discovery, amniocentesis has helped thousands of women give birth to normal children.
Last year alone, nearly 5,000 American women reaped the benefits of the procedure, which allows the fetus to be
examined for a variety of serious inherited disorders. When prenatal diagnosis reveals a defect – as it does in
about five per cent brae of the spine. No one is sure what the exact cause of spina bifida is, so there is no way to
determine in advance if a parent is a carrier. The only way to know is to have an affected child.

“When I had Robbie,” Brenda says, “nobody in Pittsburgh had ever heard of spina bifida. In fact, I was the only
person in town, as far as I know, who ever had a child with a birth defect.”

Robbie was immediately transferred from the Pittsburgh hospital to Children’s Medical Center in Dallas for
treatment. He was hydrocephalic, which means he had water on the brain as a result of the spinal defect, was unable
to control his bowel and bladder functions and had no movement whatsoever in his lower limbs. During his first few
months of life, he had to undergo a series of crucial operations.

“Robbie’s doctor tried to prepare us for the worst,” 28-year-old Mrs. Harville recalls. “He painted a very black
picture. He said Robbie would never sit up or walk and that he was probably brain damaged. It hurt, and I reacted so
badly, I guess, that when we left, the doctor asked me if we were still friends. I said yes, because he had saved my
baby’s life, but I told him I disagreed with his prógnosis.”

From that moment on, Brenda and Lawrence Harville were determined to make their son’s life as normal as possible.
“His life will be what we make it,” Lawrence kept saying. “If we treat him like he’s handicapped, he’ll act like
he’s handicapped.”

In the North Texas area, Southwestern Medical School is the only place offering the test, which is done by
physicians in the Department of Obstetrics-Gynecology. Since the local testing program began in the fall of 1972,135
pregnant women have undergone the procedure. Five of these have been told that their yet-unborn children had serious
birth defects, and all five chose to have therapeutic abortions. Dr. Harrod emphasizes, however, that abortions are
not required, even when the test results are positive, although people who are opposed to abortion for any reason
are discouraged from taking the test, since it involves a slight – less than one percent – risk of miscarriage.

The test involves inserting a large hypodermic-type needle through the abdomen into the womb sometime between the
14th and the 16th week of pregnancy, and extracting a small amount of the amniotic fluid surrounding the fetus. An
ultrasonic detection device pinpoints the location of the fetus and minimizes the risk that the needle might injure
it. The extracted fluid contains cells shed by the fetus, which can be analyzed in the laboratory for the number and
shape of chromosomes, the carriers of the hereditary characteristics known as genes. The cells can also reveal many
crubrae of the spine. No one is sure what the exact cause of spina bifida is, so there is no way to determine in
advance if a parent is a carrier. The only way to know is to have an affected child.

“When I had Robbie,” Brenda says, “nobody in Pittsburgh had ever heard of spina bifida. In fact, I was the only
person in town, as far as I know, who ever had a child with a birth defect.”

Robbie was immediately transferred from the Pittsburgh hospital to Children’s Medical Center in Dallas for
treatment. He was hydrocephalic, which means he had water on the brain as a result of the spinal defect, was unable
to control his bowel and bladder functions and had no movement whatsoever in his lower limbs. During his first few
months of life, he had to undergo a series of crucial operations.

“Robbie’s doctor tried to prepare us for the worst,” 28-year-old Mrs. Harville recalls. “He painted a very black
picture. He said Robbie would never sit up or walk and that he was probably brain damaged. It hurt, and I reacted so
badly, I guess, that when we left, the doctor asked me if we were still friends. I said yes, because he had saved my
baby’s life, but I told him I disagreed with his prógnosis.”

From that moment on, Brenda and Lawrence Harville were determined to make their son’s life as normal as possible.
“His life will be what we make it,” Lawrence kept saying. “If we treat him like he’s handicapped, he’ll act like
he’s handicapped.”

More than two years has passed since we took our first peek at the paychecks of the city’s best known and best paid
men and women. This year’s peeking, however, was much more fun because we were delighted to discover that the
fortunes of our city’s bluebloods have increased dramatically since the 1974-75 recession. Take E-Systems chairman
John Dixon. In 1976 Dixon’s remuneration totalled nearly $375,000, an 88 percent increase over 1974, although we
should add that E-Systems’ fortunes have advanced just as rapidly as Dixon’s. To facilitate comparisons with our
last paycheck peek, we’ve placed 1974 salaries next to the 1976 salaries.

This year we encountered much less trouble in obtaining salaries from such places as Parkland Hospital. While two
years ago the hospital surrendered its salaries only after days of stalling, a board meeting, and threats of legal
action from us, this year the gracious folks at Parkland gave us the figures inside of two hours.

For those readers who might like to do their own paycheck peeking, may we again caution you to read the footnotes in
corporate proxy statements. Often the footnotes contain the most scintillating part of the paycheck – the corporate
bonus. a screening and take a blood test to determine if she were a carrier. The test was positive.

“I was upset at first, but I got over it,” Lynda says. “I was single at the time and the chances seemed very, very
slim that I’d marry someone who also carried the Tay-Sachs gene, and it takes two parents who are carriers to
produce an affected child.”

About a year later, she met Gary, who is also of Ashkenazi ancestry, at a Jewish singles group. When they became
engaged in October, 1975, Gary decided to take the test, too. Again, the results were positive. Despite the bad
news, the couple went ahead with their marriage plans, and later with their plans to have a baby. Lynda’s personal
physician advised her about the availability of amniocentesis and suggested she contact Dr. Harrod.

And today, after all the agony and uncertainty, the Fishbeins are still convinced they want other children. “This
won’t stop us from having another baby,” Lynda says determinedly. “We’ll go through this over and over again.” And,
thanks to amniocentesis, the Fishbeins can have a dozen healthy kids, if that’s what they want.

Brenda Harville sits in a rocking chair in the living room of her modest home in suburban Hurst and holds a miracle
in her lap. The miracle’s name is Leslie Renee, a dark-haired baby girl in a frilly apricot-colored dress. She is
almost two months old now, but still as healthy and normal – and miraculous – as ever to her mother.

Six and a half years ago, in the small Texas town of Pittsburgh, Brenda and her husband, Lawrence, had another child
– a little boy named Robbie. At his birth, in November, 1970, they had no way of knowing that Robbie had a serious,
crippling birth defect called spina bifida, which causes paralysis from the waist down because of an opening in the
vertebrae of the spine. No one is sure what the exact cause of spina bifida is, so there is no way to determine in
advance if a parent is a carrier. The only way to know is to have an affected child.

“When I had Robbie,” Brenda says, “nobody in Pittsburgh had ever heard of spina bifida. In fact, I was the only
person in town, as far as I know, who ever had a child with a birth defect.”

Robbie was immediately transferred from the Pittsburgh hospital to Children’s Medical Center in Dallas for
treatment. He was hydrocephalic, which means he had water on the brain as a result of the spinal defect, was unable
to control his bowel and bladder functions and had no movement whatsoever in his lower limbs. During his first few
months of life, he had to undergo a series of crucial operations.

“Robbie’s doctor tried to prepare us for the worst,” 28-year-old Mrs. Harville recalls. “He painted a very black
picture. He said Robbie would never sit up or walk and that he was probably brain damaged. It hurt, and I reacted so
badly, I guess, that when we left, the doctor asked me if we were still friends. I said yes, because he had saved my
baby’s life, but I told him I disagreed with his prógnosis.”

From that moment on, Brenda and Lawrence Harville were determined to make their son’s life as normal as possible.
“His life will be what we make it,” Lawrence kept saying. “If we treat him like he’s handicapped, he’ll act like
he’s handicapped.”

Eventually, after months of painstaking work, their positive philosophy paid off. By the time Robbie was 15 months
old, he was walking with the aid of parallel bars. At 16 months, he was walking alone on crutches. But it wasn’t
easy. There were no physical therapists in Pittsburgh, Texas, so Brenda had to fill that role herself, spending
long, tedious hours teaching Robbie his exercises. Periodically, she made the two-and-a-half-hour drive to the
Dallas Society for Crippled Children for Robbie’s checkups. Here, she was told she must learn to be a stern
disciplinarian if Robbie were to progress, that she must force him to achieve each new physical goal. Often, Robbie
screamed in fear and frustration, but she made him continue. Sometimes, Brenda admits, she had to run next door and
scream herself. It was hard to see the progress coming from one day to the next, but at the checkups, it showed
dramatically.

Now the Harvilles live in Hurst, where 30-year-old Lawrence is a school band director, and Robbie goes to Scottish
Rite Hospital for Crippled Children in Dallas for his checkups. “The last time we went, our doctor said Robbie was
the most mobile and independent child with spina bifida at this level that he’s ever seen,” Brenda says. He attends
regular kindergarten and even participates in physical education. He is intelligent, makes good grades and is the
Texas March of Dimes poster child for 1977.

But, gratifying as it has been for the Harvilles, the miracle of Robbie was not a miracle they wanted to see
repeated in their lives. If they ever had another child, they told themselves, it would have to be normal – but how
could they be sure? There was a five per cent chance that another baby would also be afflicted with spina bifida.
Finally, though, they decided to take the risk.

At the earliest possible time in her second pregnancy, Mrs. Harville underwent amniocentesis. If the lab tests
showed that the amniotic fluid contained a substance called alpha feto protein, that would have showed the unborn
child was affected with the same paralyzing spinal defect as Robbie. But the test was negative. Another miracle had
happened to the Harvilles. They named her Leslie Renee.

“It’s hard to say this now, while I’m holding her in my arms,” Brenda Harville says, looking down at her healthy,
normal baby, “but I probably would have had an abortion if they had told me she had the defect. After having one
handicapped child and seeing him hurt, I couldn’t make another one go through it.

“The amniocentesis made my pregnancy a lot smoother. With the test, we were assured that we had done everything
possible to have a healthy baby this time.”

Fortunately for people like the Har-villes and the Fishbeins, some answers are finally emerging from the mystery
surrounding the age-old horror of birth defects and inherited malfunctions of nature. But for the vast majority of
parents with defective children, there are still no ready solutions, only endless, haunting riddles.

“The most common things we see are those for which there is no diagnosis,” says Dr. Harrod. “I saw a baby recently
at Parkland Hospital who is dwarfed, has urological problems, an oversized head and eyes that roll uncontrollably
back and forth. But nobody knows for sure what’s wrong with him, so we can’t tell parents what the risks are for
subsequent children, and we can’t diagnose the disorder prenatally.”

Therefore, the Birth Defects Center at Children’s Medical Center serves a dual purpose, providing answers for
parents when diagnosis and treatment is possible and seeking answers when there seem to be none. The center is
funded by the March of Dimes and uses a “team approach,” bringing together specialists from many fields to deal with
the multiple problems of children with both physical and mental handicaps, and thereby eliminating the confusion and
frustration of searching for specialists in widely separated places. Dr. Doman Keele is coordinator for the center,
and Dr. Sherrod is codirector.

“We always try to tell the parents what the problem is, and that’s not always easy,” says Dr. Harrod, who does
genetic counseling for the center. “But sometimes it’s amazing how much it helps to have an explanation for tragedy
or know that someone is trying to help you find an explanation. It helps get rid of a lot of guilt and anxiety.”

According to Elizabeth Hunter, a social worker with the Birth Defects Center team, when parents discover they have a
child with an inherited defect, they go through a grief process, very similar to a family’s reaction to the death of
a loved one. But at the same time, they have a child they must learn to accept and cope with. Such children often
affect their parents’ marital relationship. Divorce rates are higher among families with afflicted children. Others,
like Curtis Thompson’s father, simply can’t accept the idea of living with such a child, and they run away. Although
they may feel terribly alone at the time, nearly all the parents of children with birth defects go through the same
five emotional stages – grief, denial of the problem, anger, depression and, finally, acceptance.

“With people to help you, it usually takes about six weeks to work through your feelings about a newborn with a
birth defect,” Ms. Hunter says. “But after the initial crisis is over, there are other crises – like when the child
is two years old and his differences are really obvious, or when he reaches school age and is unable to keep up with
his peers. So we see the parents and child on a follow-up basis ourselves, or we refer them to other resources in
the community.”

If physicians can find a diagnosis and a logical explanation for the parents, then genetic counseling is offered at
the Birth Defects Center, which holds a clinic every Wednesday morning at Children’s Medical Center. When possible,
members of the team, which also includes speech pathologist Fran McEwen, registered nurse Betty Logan and child
psychologist Don Baer, offer aid to the families themselves or, if necessary, refer them to other clinics at
Children’s Medical Center for treatment.

But if the problems are more unusual, sometimes defying an answer, patients are seen at the Genetics Counseling
Clinic, which meets Monday mornings at Children’s Medical Center under the direction of Dr. Joseph L. Goldstein,
head of the Division of Medical Genetics of the Department of Internal Medicine at Southwestern Medical School.

Counseling not only assists parents in a terribly difficult period of adjustment, but it occasionally provides
medical science with a slender, fragile thread leading back into the maze of genetic mysteries, hopefully toward
another important answer.

But, according to Dr. Harrod, genetic counseling’s major goal is to prevent the occurrence of birth defects that too
often preclude the healthy start in life that is the right of every child and the hope of every parent.

“Some people have the idea that there should be this great surge to purify humanity,” she says. “To me, genetics is
an individual thing – to help one couple at a time have a healthy baby. That’s more important than anything else.”

Although individual birth defects may seem relatively infrequent – occurring in only about seven percent of all
births – the total number of affected families is well into the millions. And each year, approximately 250,000 more
American babies are born with physical and mental defects of varying severity. Not all of them possess the
terrifying hopelessness of the case of Curtis Thompson. Certainly, not all of them embody the hopeful prognosis of a
Robbie Harville. But in each of them, there is a kind of pain and anguish that is probably unrivaled in any other
disorders known to medicine.

And those millions who have children with birth defects are not really the unusual ones, notes Dr. Harrod, but
merely the unlucky ones. Within the genetic makeup of all of us is a potential horror story, in the form of between
three and five “recessive” genes. If, by some slight chance, we should happen to marry a person who carries any one
of the same “recessive” genes, then our children may also be the unfortunate losers in the gamble the experts call
“genetic roulette.”

It’s that simple. And that complicated.

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