PAZO
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A New
Life for Karen
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77jc cookies on Karen's plate include a scientific compound responsible for her progress.
This little girl's victory over
a mentally crippling disease spells hope
for millions of other children
By SHIRLEY SIROTA ROSENBERG
jA Jr " ,j' Karen spins a record for her dad. J
Manilla irilh lirr friends, ft iS ' I
Laughing ivith her parents. ' N ... Reading to her mother.
EIGHT-YEAR-OLD Karen Lee Egerter of Lan
ham, Md., has a pixie haircut, shining blue
eyes, and a nose that tilts just the way a little
girl's should, only better.
She reads, writes, and loves to listen to music. And like
other little American girls, she jumps with joy each time
an astronaut completes another trip to outer space
though perhaps she jumps a little higher because her
father, Richard (Rick) Egerter, works for the National
Aeronautics and Space Administration, which is responsi
ble for these trips.
But there was a time when Karen knew neither how to
jump nor feel any joy. She would clasp her hands over her
ears at the sound of a musical toy, the way others wince
at the screech of chalk on a blackboard. There was cer
tainly no hope that she would ever be able to read or write.
And although she was almost four, she could not even talk.
Karen was a mentally retarded child.
Today, however, this delightful youngster .has escaped
from her affliction arid is living a near-normal life. To the
scientific world, she represents the first major breakthrough
in the treatment of mental retardation. To all mankind,
she proclaims that mental retardation is not an unalterable
fact of life; Karen has been cured, and countless genera
tions will some day follow her to normalcy.
Karen was born with a disorder of the metabolic svstem
which is so rare but so significant that more researchers
have been involved in its cure than there are patients being
treated. Known variously as phenylketonuria, phenyl
pyruvic oligophrenia, or most simply, PKU, it strikes only
one child in 20,000. But circumventing this disease has
opened a way toward eradicating the blight of mental
retardation which, in the United States alone, afflicts
5,500,000 persons.
In many ways, PKU is similar to some cases of diabetes.
Both are defects of metabolism which result in a chemical
imbalance. In diabetes, the pancreas fails to secrete a hor
mone which helps digest sugar. In PKU, the liver cannot
manufacture the enzyme which breaks down phenylalanine,
a basic constituent of protein.
Here is where the resemblance ends. In diabetes, the
missing secretion can be injected directly into the body.
But science still does not know how to tempt the human
body into accepting foreign enzymes.
Two Doctors Solve the Riddle
The immediate problem then was to eliminate phenyl
alanine from the diet, just as sugar is forbidden to a dia
betic. But phenylalanine is found in every protein, and
protein is basic to life itself. In April, 1954, three months
after Karen's birth, two scientists, Dr. Marvin Armstrong
and Dr. Eugene E. Howe, undertook to develop a protein
compound from which it would be possible to remove most
of the offendng phenylalanine. They came up with Ketonil,
a brownish powder whose miraculous future belied its
offensive taste and smell. Other researchers soon developed
a similar low-phenylalanine powder called Lofenalac.
But in January, 1954, when Karen was born, there were
no low-phenylalanine powders available and newborn in- t
fants were not even being tested for PKU. Karen was
brought home from the hospital, a perfectly normal
infant. But the phenylalanine she got from her formula
kept building up in her body until it reached 20 to 30 times
PHOTOGRAPHS BY ARTHUR SCHATZ
the normal level. Somewhere along the line no one knows
at just what point the abnormal accumulation of phenyl
alanine began to poison her growing mind, leaving intact
only those brain cells which were already fully developed.
Karen's retardation soon began to betray itself to her
anxious mother. Finally, in April, 1957, after Karen had
passed her third birthday still not speaking, the Egerters
went to an out-of-town clinic for retarded children. There,
the simple identification test for PKU was performed; a
few drops of 10 percent ferric chloride were placed on
Karen's wet diaper and it turned olive-green. She definite
ly had PKU. The prescription: institutionalization.
What Betty and Rick Egerter and seemingly the clinic
did not know was that, at that very moment, field trials
were being run on the new PKU diet. However, the parents
instinctively refused to part with their first-born. For the
next six months, they tried to cope with a child who could
not talk, who would never learn to think, and whose soul
contorted in rage as more and more phenylalanine was
unleashed into her nervous system.
Finally, the Egerters appealed for help to an outpatient
clinic for retarded children run by the Georgetown Uni
versity Hospital in nearby Washington, D.C.
Miraculously, the Egerters had applied to a clinic which
only three months before had started testing the new low
phenylalanine powders. Karen was brought in for immedi
ate treatment, an irascible four-year-old in diapers who
spoke three unintelligible words and tried to live on frank
furters and potato chips.
The clinic could promise nothing. Since the accumulated
phenylalanine attacks only growing brain cells and the
brain reaches full physical development by the age of six
it was suspected that three-fourths of Karen's potential
had already been destroyed.
Karen Comes Close to Starvation
The dietary regime was unbelievably difficult. Infants
readily accept the low-phenylalanine powders in a formula.
Karen fought every mouthful. When the powder was mixed
with the few natural foods she was allowed, it immediately
turned them olive-green, bad-tasting, and odorous. She was
allowed only five grams of protein a day. A frankfurter
has seven grams. Karen wound up in the hospital, close to
starvation. But there, under controlled conditions, she
finally accepted her new diet. Some children never do.
Karen came home to days of forced feeding. Meanwhile,
her mother spent three weeks desperately trying to develop
a tasty cooky which would contain all the low-phenylalanine
powder the child needed. She used Ketonil, Lofenalac,
baking chocolate, vanilla, water, sugar, butter, salt, and a
gluten-free flour supplied free of charge by the Huron
Milling Division of the Hercules Powder Co., a manufac
turer of explosives. At first, some cookies were so runny
they practically slid into the trash by themselves: others
looked like burned oatmeal.
But one day, on her 12th try, Mrs. Egerter saw before
her eyes nine perfect giant-sized cookies. From that day
on, Karen's regular meals no longer had to be mixed with
the obnoxious raw powders.
Slowly, the effects of the diet began to show. First,
Karen's blonde hair began to change at the roots to brown,
the color nature had intended it to be. Until now, it had
been held in check by the chemical mix-up in her body.
Her temper tantrums decreased and finally disappeared.
Within a period of three weeks, she discarded her diapers.
One bright afternoon she followed a musical toy down the
street. And then came the day when she danced into the
kitchen and said: "Please, Mommy, may I have just one
potato chip, just one?"
Her mother succumbed. She shouldn't have but. once
she had prayed: "Oh God, let her say anything. I don't
. care what it is, as long as it's a word. Just let her talk."
Karen had checked into the Georgetown clinic with an
IQ of 57 (normal is 100). Two years later she reached 85.
Karen stayed at that point for the next 18 months. Once
she had reached six years of age, however, no further
brain development could have been expected. It appeared
to the Egerters that the low-phenylalanine food had ac
complished as much as it ever would. Since no setback was
expected, the parents decided to free the child from the
rigors of the diet. The past 3 years had cost them $4,200.
She Can Have a Near-Normal Future .
Today at the age of eight, Karen is completing her sec
ond year in a special education class at a public school.
Last year she was the only one in her group pushed ahead
to the next level of achievement. Some day she may go into
a regular class, but even if she must remain in a situation
geared to her learning abilities, she will be able to com
plete high school.
She can become self-supporting. She can get married.
And if. her husband neither has nor carries PKU, her
babies will have the same chance for normalcy as the
4,000,000 others born each year in the U.S.
No one knows exactly what would have happened to
Karen if she had never been put on the special powders;
the relationship between IQ and diet is still conjectural.
But her doctor points out that certainly the low-phenylalanine
powders soothed her outraged emotions and pushed
up her rate of development. On the day she took her first
spoonful of powder, Karen was operating at one-half her
normal capacity. By the time she swallowed her last mouth
ful, she had regained almost nine-tenths of her birthright.
Karen was born a little too soon. Had she come into this
world three years later, she could have been put on the
low-phenylalanine powders by the time she was six weeks
old, before any brain damage had taken place. By the age
of six, she would have been taken off the diet, for no
further damage can occur once the brain is fully developed.
The progress in the treatment of PKU has spurred great
optimism. Today there is no doubt that men of science,
working from basic biochemical principles, can make good
on some of the tragic mistakes of nature. A dozen other
causes of mental retardation have already been linked to
"inborn errors of metabolism" similar to Karen's.
Maple-sugar urine disease (so named for its distinctive
odor) has been pinpointed and is slated for an eventual
cure. The dread scourge of cretinism can now be prevented
if the thyroid hormone itself is given early enough to chil
dren born with a deficient thyroid gland.
Even in those disorders of the nervous system where no
retardation occurs, it is now felt that one small defect in
metabolism may be at fault. This is the big hope in
epilepsy, and there is even some preliminary evidence that
certain speech disorders are due to chemical imbalance.
Thus, through Karen's victory over PKU, millions, of
others have gained hope for deliverance from a wide
range of disorders.
Family Weekly. December IS, IM2
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