PMP pmo py

 
SB Bank, it’s time to put your tricycle away and come in

for lunch.” ... “Linda will be here soon—unless she’s
“playing with friends on the way home from school.” ...
“Jerry is doing beautifully in kindergarten. He’s so proud
of his workbook.”

These phrases might be any mother’s, any time, anywhere.
They're ordinary, typical, fondly maternal.

What makes them quotable is that the children involved
are able to enjoy the give-and-take of everyday living be-
cause they happened to come into the world within the past
decade.

Mark and Linda and Jerry were born with severe birth
detects. They represent more than a quarter of a million
children born each year in the United States with ab-
norinalities that can limit or deny them the simple, pleas-
urable activities of childhood. But today Mark and Linda
and Jerry —and thousands of youngsters like them — are
benefiting from the marvelous advances doctors are making
in the treatment and prevention of congenital defects.

I'm happy to say that the dread word “hopeless” is fast

 

disappearing from the vocabulary of specialists in the field
of birth defects. Within the last 10 years or so, pediatri-
cians, surgeons, therapists, and other specialists have gained
vast knowledge about the correction and cure of abnormali-
ties that were once considered beyond help.

We've learned how to detect and treat many “hidden
defects”—internal or metabolic disorders not apparent at
birth — before their deadly effects have a chance to cause
irreparable damage.

Perhaps most important of all, we’ve learned that many
potential birth defects can be warded off during pregnancy,
or even before, by means of simple, common-sense pre-
cautions.

“Enjoy him while you can; there’s nothing more we can
do” are despairing words that were often all a doctor could
say to heartbroken parents. Now research findings and
clinical experience constantly make the need for that grim
sentence much less common.

HELP FOR MARK’S HYDROCEPHALUS

MEDICINE’S recent great progress is dramatized by the
help that was available for Mark when he was born four
years ago with Aydrocephalus, or water on the brain. Before
birth something went wrong in his body’s ability to cir-
culate and absorb cerebrospinal fluid in the normal way.
Excess fluid backed up under his skull. The resulting
abnormal pressure usually causes gross enlargement of the
head and can lead to blindness, mental deficiency, or even
death.

Today Mark, as he rides his tricycle, pays no attention
to the thin plastic tube and tiny pump contrivance lying
just under the skin above and behind his right ear. He’s
too busy with the important matters of growing up and
enjoying a normal, active life to think about the surgical
miracle that made it possible.

A LIFESAVING “DETOUR”

THAT miracle is known as “shunt surgery,” because the
tube forms an artificial bypass, or shunt, around the de-
fective pathway and permits excess fluid to drain harmlessly
into the blood stream. This procedure was developed only
a few years ago. Progress in the technique has been so
rapid that Dr. Eugene B. Spitz, pioneer in its development
in the United States, now calls it “one of the safer things
we do today in pediatric neurosurgery, with operative
mortality less than in appendicitis.” (Dr. Spitz is neuro-
surgeon-in-chief at Children’s Hospital, Philadelphia.)
About 20,000 of these dramatic operations have been
successfully performed on babies and youngsters through-
out the world. This is a far cry from the time when par-
ents of a hydrocephalic child could only wait and hope

that the condition would correct itself.

“If our aim is to preserve normal men- [To page 88]

 

 

 
 
 
 
 
 
  
  
 

Dr. Virginia Apgar, a noted specialist
in the problems of newborn infants, is
the creator of the “Apgar score,” a
clinical evaluation made within 60 sec-
onds after birth to determine normality.
Among:the honors held by Dr. Apgar is
the ‘New, York, -Infirmary’s Elizabeth
lackwell Citetter (1960) for outstand-

ice e_ by @iwomen.

     
 
 

   

 
They’re solving the mysteries of birth defects

From page 49

tality,” says Dr. Spitz, “I think the vast
majority of hydrocephalic infants and
children will need some variety of de-
compressive shunt surgery. This business
of waiting to see if the child’s head will
* stop growing usually results in permanent
mental defects. Time is of utmost impor-
tance in the preservation of brain func-
tion.”

EARLY DETECTION IS A MUST

EARLY detection and treatment are an
important part of the “new” medical at-
titude toward birth defects. Doctors now
realize that delay often results in perma-
nent disability, mental retardation, or
death.

Early detection has always been easy in
some of the more familiar types of birth
defects. Clubfoot, missing or underdevel-
oped extremities, open spine, and similar
abnormalities are usually immediately ap-
parent at delivery. But until just a few
years ago early measures to correct these
defects were the exception rather than the
rule. Today medical authorities realize
that treatment must begin as early as
possible after birth to assure maximum
correction. Delay often compounds the
disability.

With modern surgical and anesthetic
techniques, surgery on newborn babies is
not the risk it once was. Harelip may be
repaired in the first few weeks of life
instead of several years later. Not only
does this early treatment assure better
cosmetic results, but it also often prevents
many feeding and emotional problems that

88

would otherwise arise as the child matures.

Complex surgery is involved in the re-
pair of cleft palate, and today’s operations
are much more effective than they were 25
years ago. Early surgery permits the most
effective follow-up care by the orthodon-
tists, speech therapists, and other special-
ists who play an important role in the full
correction of the handicap.

Babies born with c/lubfoeot 20 or more
years ago were, more often than not, left
untreated in their early months in the
hope that spontaneous improvement would
occur. This forlorn hope was seldom real-
ized, and such children faced life with
bone and muscle deformities that grew
worse as time passed.

Pediatricians and orthopedists now
know that there is no such thing as spon-
taneous improvement of true clubfoot—
rather, that growth and weight-bearing
increase the problem. So, as soon as pos-
sible, they begin forcing clubfeet into a
normal position by stretching the short-
ened muscles and ligaments and aligning
the bones into a more natural relationship.

In the large majority of cases, through
the use of casts, braces, and corrective
shoes, the condition may be corrected be-
fore the child is ready to walk. Occasion-
ally surgery also is needed.

CORRECTING HEART DEFECTS

SOME of the most dramatic advances in
successful correction of birth defects have
been made in the field of heart surgery.
There are now techniques, literally un-
known before 1939, for surgical repair of
some 16 of the 19 known congenital de-
fects of the heart and so-called great
blood vessels. With protective antibiotics
and the almost magical heart-lung ma-
chine to maintain circulation during deli-
cate surgery, doctors are now able to
operate on all the chambers of the heart.
They can repair holes, open or close de-
fective valves, even construct new ducts
to do the work of blocked ones—often, in
the process, literally changing “blue”
babies to a healthy pink.

Of the 30,000 babies born each year
with abnormalities of the heart, the great
majority are now saved from early death
or lingering invalidism because doctors
know what to look for and—far more
vital—what to do when a defect is found.

Many potentially fatal malformations
of other body systems, especially in the
alimentary tract and the urinary tract, are
now being detected and corrected before
they can cause irreparable harm.

For example, sometimes a baby is born
with the esophagus—the channel from
mouth to stomach—ending in a_ blind
pouch instead of extending to the stomach.
The child obviously cannot swallow nour-
ishment, and death is inevitable unless the
defect is corrected. Within the baby’s first
24 hours, surgeons now safely open the
tiny chest. connect the esophagus to the
stomach, and feed the baby artifically until
the connecting stitches heal; within weeks
the infant thrives on a regular formula.

HELP FOR LINDA’S OPEN SPINE

SPECTACULAR headway has also been
made in techniques of rehabilitation, called

“habilitation” when disability is present
irom birth. Linda, now seven, was born
with spina bifida, or an open spine. Her
backbone failed to close properly before
she was born, and the spinal cord and
nerves leading to the lower body and legs
were damaged so severely that it seemed
unlikely that Linda would ever he able to
walk.

Yet it has been more than a year since
Linda’s mother “called up everybody I
knew—and probably some I didn’t know—
to tell them about Linda’s first steps with-
out crutches or braces!’

Linda still wears her braces for school
and roughhouse play——doctor’s orders until
her legs are a good bit stronger. But she
can use her own two feet, and she treas-
ures her independence.

Her success story—one that these days
could be told of growing numbers of chil-
dren—reflects advances in many fields of
medicine. Because spina bifida is one of
the most complex of all structural birth
defects, its treatment involves the serv-
ices of neurosurgeons, orthopedists, urol-
ogists, physiatrists, physical therapists,
and many other specialists.

The extent to which an open spine can
be corrected surgically depends largely on
the degree of spinal-cord and nerve dam-
age. If this is severe, much of the child’s
success in learning to use his legs and
other affected portions of his body rests
with habilitation experts. Every year they
are better able to teach the child how to
walk with braces, how to make move-
ments of the upper body compensate for
disabled lower extremities.

ADVANCES IN ARTIFICIAL LIMBS

HOW far habilitation techniques have
leaped ahead in recent years is illustrated
by progress reports on thalidomide babies
born in tragic numbers in Europe during
the last year or so. Long before thalido-
mide and its devastating effects came
to public attention, there were babies born
with missing or underdeveloped arms and
legs—not in such appalling numbers as
those caused by thalidomide, but there
were enough of them to goad medical
scientists to search for ways to replace
missing members.

One of the most striking advances is
the growing conviction among  habilita-
tion specialists that early fitting with
artificial limbs (called prostheses) is the
key to successful adjustment and_ use.
Nowadays passive “baby mitts”—artificial
arms without moving parts—may be fitted
to an infant still in the crib, so that from
early awareness they will seem to have
been part of him.

When he is old enough to manipulate
more advanced mechanical prostheses, he
is much further along the road to self-
sufficiency than similar children who, up
to a few years ago, weren't introduced to
artificial aids until they were several
years old.

Another striking development is pneu-
matic prostheses—artificial limbs powered
by carbon dioxide. In response to a slight
pressure from a body muscle they produce
a much more refined and controlled mo-
tion than earlier devices. Invented a little
more than 10 years ago, these pneumatic
limbs are being perfected rapidly. Other
researchers are trying to develop transis-
torized devices that may even more closely

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approximate the workings of natural arms
and hands.

HELP FOR JERRY'S PKU

ALONG with advances in surgical cor-
rection and rehabilitation techniques, new
knowledge of “hidden defects” is making
dramatic progress.

“We were convinced that our son was

‘the most perfeet newborn in the nursery,”
Jerry’s mother recalls.

To all outward appearances he was per-
fect—healthy, active, off to a good start
in life. Only chance alerted his doctor and
parents in time to keep him that way.

Jerry was born at a time when the well-
baby clinic in his home town was conduct-
ing studies of a test of phenylketonuria
(PKU), a defect in the body chemistry
that prevents assimilation of an amino
acid (phenylalanine), found in most pro-
tein foods. When a child has pv, the
acid is not used as nature intended. In-
stead it backs up and eventually finds its
way to the brain where it causes irreversi-
ble damage.

When a certain chemical was put on
Jerry’s wet diaper, a green ring ap-
peared around the edges of the urine
stain. This showed Jerry had a positive
tendency toward pxu. He was started on
a special diet low in phenylalanine to pre-
vent the build-up of the deadly excess in
his system,

Simply by staying on this diet, Jerry
has been spared a life of mental deficiency
that, only a few years ago, would have
been unavoidable.

Effective as the diaper test was in
Jerry’s case, unfortunately it was not
valid until an infant was several weeks
old. By that time, such a baby had left
the hospital and might or might not be
scen again in time to detect pKU before it
began to exact its toll.

However, in the past two years Dr.
Robert Guthrie, a National Foundation—
March of Dimes grantee at the State Uni-
versity of New York in Buffalo, has de-
veloped a blood test for this disease. pKU
shows up in the blood much earlier than
it does in urine. With the Guthrie test,
involving a drop of blood from a new-
born’s heel, pku babies can be diagnosed
and their protective diet prescribed before
they ever leave the hospital.

Galactosemia is a defect of body chem-
istry that prevents normal tolerance of
milk sugars; if unrecognized, it can re-
sult in mental retardation, cirrhosis of
the liver, and blindness. Only in recent
years has there been a diagnostic test for
galactosemia; when it is detected within
the first month of life, before appreciable
damage has been done, the immediate
institution of a milk-free diet usually pro-
vides complete protection.

The conquest of mental retardation and
other neurological damage caused by Rh
blood factor incompatibility is taken for
granted these days: the first break-
through in understanding its cause came
in 1941. Today these complications are
completely preventable when the condi-
tion is known before or early in pregnancy
and can be carefully watched by obstetri-
cian and pediatrician. If necessary the in-
fant is given an exchange blood transfu-
sion right after birth.

Another hidden defect, defictency of

[To page 90|
SANUARY 1964

89
90

thyroid hormone, has been recegnized fer
several years as the cause of eretinism,
typified by stunted growth and = severe
mental deficiency. Now researchers have
shawn that this condition can be prevented
hy treating the mother during pregnancy
or by giving the thyreid hormone te
babies who are bern with a defective
thyroid gland.

Doctors and medical scientists ai
the country are engrossed in the search
tor defects that have a deadly delaved
action. Dr. Sydney Gelhis, acting dean of
medicine at Boston University, is a ern
sader for recognition of clues that may
indicate a need fer extensive examination
of a newborn baby before he is considered
free of problems.

For example, the nermal umbilical cord
has three blood vessels, easily seen by the
naked eye. Dr. Gellis has observed that
when there are only two blood vessels in
the umbilical cord cf an otherwise ap-
parently normal infant. “the absence of
the third suggests that there may be a
major defect in the heart, kidneys, gas-
trointestinal tract, or central nervous
system.”

The clue in itself is not conelusive—but
it does indicate the need for a more thar-
ough examination than might ordinarily
he made. If the investigation wneovers an
unsuspected abnormality, corrective treat-
ment can be started with the greatest pos-
sibility of success.

Recognition of clues like these has
mushroomed in the last few years. There
are signs that soon many more will he
discovered. For example, a clue was just
uncovered by a research team in New
York City—a test that detects an inborn
inability of the body to handle the copper
in oysters, chocolate, muts, mushreoms,
and some other foods.

Known as Heilsom'’s discase. the defect
permits copper to build up in the svstem.
Like the build-up of phenyladanine in rR.
the unassimilated copper of Wilson's dis-
ease eventually is associated with severe
liver and brain damage. Unlike peu,
which invariably takes its iol) in infaney
and early childhood, Wilson's disease may
He dormant for months or vears.

When it finally shows its symptoms—
jaundice, mental retardation tn young
victims, and loss of muscular contrel and
personality changes resembling sechize-
phrenia in older ones—much af the dam-
age has been done and the course of the
disease can be slowed oniy by diet and
medication. But with the new test. invely-
img a sinele drop of bload, potential in-
heritors of a tendency te Wilson's disease
can be treated before outward signs of the
ness develop.

 

ca

 

1 over

SUMMING UP

THESF, achievements—in surgery to re-
pair and correct, in diagnustic methods tu
detect and allay potential damage. m treat-
ment and rehabilitation te modify coud
tions not wholly correctihle—all provide
more hope than ever befere existed fer
the nearly 700 infants with significan
hirth defects born each day in the United
States.

Doctors recommend that every potential
mother chserve the folowing — simple,
comunon-sense precautions, im arder te
help protect her baby from birth defects:

1. Diet. A mother’s health affects her
hahy. Maternal health should be developed
from early adolescence by a diet rich in
protein, minerals, and vitamins. During
pregnancy, bo follow the diet prescribed
hy vour doctor.

2. Drees. Drugs may harm both the
mother and her unborn child. Never take
drugs during pregnancy unless they are
prescribed by your doctor.

3. X rays. X rays may injure your
haby. Their danger is ercatest in the carli-
est days of pregnancy. If X rays are
absolutely necessary. your doctor can take
proper precautions. If you know that you
are pregnant, or suspect that you may he,
be sure to tell your doctor.

4. Ruy Factor. Under certain conditions
the Rh factor may cause serious illness in
an unborn child; but effective treatment is
often possible at birth. Mo learn, before
pregnancy, both your own and your hus-
hand's blood type. Discuss this with your
doctor.

§. Diseases. German measles in a
mother in the first three months of preg-
nancy sometimes causes malformations of
the baby: other viruses are being investi-
eated as possible culprits. Don’t know-
ingly expose yourself to infections during
pregnaney, but do try to have your daugh-
ter exposed to German measles hefore she
finishes high school.

6. Tk EARLY pays and weeks of preg-
naney are even more important than later
weeks to your baby’s development. Your
doctor’s counsel regarding pregnancy and
the care of your unborn child is impera-
uve. Do consult him as soon as you sus-
pect you are pregnant, and preferably also
Melore.

©) speed the acquisition of new knowl-

edge and, as soon as possible, extend
its benefits to children everywhere in the
United States, The National Founda-
hon—March of Dimes began in 1960 to
establish a network of centers for the
study and treatment of birth defects.
Today there are nearly 50 such centers in
teaching hospitals and medical centers
throughout the country. As funds permit,
more of these centers will be opened, for
the demonstrated need has outstripped the
Jacilities.

Not only do these centers provide care
fer the children who need it; they also
form an effective communications network
for the medical profession. When new
techniques are proved effective, the word
is quickly sent to all centers. Center staffs
cunvene regularly to compare experience
and draw from the others’ knowledge.

Perhaps most important, each center
teaches, Physicians and medical students.
nurses, therapists, and other specialists on
the center staffs and throughout the com-
maimities the centers serve—all are con-
stantly learning what is newest and best
in the care and treatment of birth defects.

While more can be done today than
ever before to help victims of birth de-
fects, the ultimate goal, of course, is te
keep them from occurring the the first
place.

Yo this end, thousands of research sci-
entists—imany with grants from the March
af Dimes — are studying hereditary and
cnvironmental factors that affect the de-
veloping embryo. #He

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