ARK, it's time to put your tricycle away and come in
"M for lunch." . . . "1,intla will be here soon-unless she's
1il:iying \\ ith frientls on the way home froni school." . . .
"Jerry is doing 1~c;tutiftilly in kindergarten. He's so proud
of his \vorkbook."

These phrases might be any mother's. any time, any\vhere.
They're ortlin:iry, typic:il, fondly maternal.
\i`h;it m;tkcs thcm quotable is that the chiltlren involved
iire it1)Ie to enjoy tho give-and-take oi everyday living be-
c;iu4e they happcncd to come into the \vorlcl within the past
tlccade.
Ilark and Lintln and Jerry were born with severe birth
defects. They represent more than a quarter of a million
chiltlrcn hrn each ycrir in the United States with ah-
normalities that can limit or deny them the simple, pleas-
urable activities of childhood. Hut today JIark and Linda
:ind Jerry - antl thousantls of youngsters like them - are
henefiting from the in;~rvrlous advances doctors are making
in the treatment and prevention of congenital defects.

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

diwppwring from the voc:ihulary of specialists in the field
of birth tlcfccts. \Vithin thch last 10 years or $0. petlintri-
cianh, surgeons, therapists. and othcr spccinlists have pined
vast kno\\lctlge xbout the correction antl cure of abnormali-
ties th;tt were once con~itlered heyond help.

\\`e'vc 1e;trnd ho\\- to tlctcct antl treat many "bidden
c1eiects"-internal 01' nictalmlic tlisortlers not apparent at
birth - before their tlentlly effects have a chance to cause
irreparable t1;mixge.
I'erhaps most iruportant of all, we've learned that many
potentiill birth defects can be warded off (luring pregnancy,
or cvcn hefore, by means of simple, common-sense pre-
cautions.
*'Enjoy him uliile you c;in ; thcre's nothing more we can
(lo" are t1ey)airing wort15 that were often all a doctor could
say to hearthroken parents. Now rewarch findings antl
clinical experience constantly make the need for that grim
sentence mid less common.

         HELP FOR MARK'S HYDROCEPHALUS
XIEDTCINE'S recent great progress is dramatized by the
help that was availahle for Mark when he was born four
years ago with Iiytirnceplzalirs, or water on the brain. Before
birth something went wrong in his body's ability to cir-
culate antl 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 macle it possible.

A LIFESAVING "DETOUR"

THAT miracle is known as "shunt surgery," because the
tube fornis 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
rapiil 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 881

")

Dr. Virginia Apgar, a noted specialist
in the mobkerns of newborn infants. is

They're solving the mysteries of birth defects
           From page 49

talky," says Ilr. 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 inipor-
tance in the preservation of brain func-
t ion. "

EARLY DETECTION IS A MUST

EARLY detection and treatment are an
important part of the "new" medical at-
titude touard hirth 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 incdical authorities realize
that treatment must begin as early as
possible after birth to assure maximum
correction. Delay often compounds the
disability.
With modern surgical arid anesthetic
techniques, surgery on newborn babies is
not the risk it once was. Hayclip 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

would otherwise arise as the child tnaturrs.
Complex surgery is involved in the re-
pair of cleft pcrltrtc, and today's operations
are much more effective than they were 25
years ago. Early surgery permits the most

effective follow-up care hy the orthodon- -
tists, speech therapists, atid other special-
ists who play an important role in the full
correction of the haiidicap.

Bahies born with cliihfo~~t 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 forlorii hope \vas seldom real-
ized, and such children faced life with
hone 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 sliort-
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. Occasioii-
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 dc-
fects of the heart and so-called great
blood vessels. With protective antibiotics
and the almost magical heart-lung nia-
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 "hlue"
babies to a healthy pink.

Of the 30,000 babies born each year
with ahnormalities 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
month to stomach-ending in a blind
pouch instead of extending to the stomach.
The child obviously cannot swallow nour-
ishment, and death is inevitahle uiiless the
defect is corrected. iVithin the baby's first
24 hours, surgeons now safely open the
tiny chest, connect the esophagus to the
stomach, and feed the hahy 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 heeii
made in techniques of rehahilitation, called

"1iat)ilitation" \\hen disability is present
irom hit-th. Linda, now seven, was horii
with spiiin hifidtr, or an open spine. Her
hackhone failed to close properly before
she \vas 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 be able to
walk.

Yet it has been more than a year since
Iinda's mother "called up everybody I
kne\v-and probably some I didn't knon-
to tell them about Linda's first steps with-
out crutches or braces !"
1.iiida still wears her braces for schuol
and roughhouse play-doctor's orders until
her legs are a good hit stronger. But shc
can use her owti two feet, and she treas-
ures her independence.
Her success story-one that these days
could he told of growing numbers of chil-
dren-reflects advances in many fields of
medicine. Because spiritr hifida 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,
aiid 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
succcss 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 hefore 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 hahilita-
tion specialists that early fitting with
artificial linibs (called prostheses) is the
key to successful adjustment and use.
Noviaclays passive "hahy mitts"-artificial
arnis without moving parts-may he fitted
to an infant still in the crib. so that from
early awareness they will seem to have
heen part of him.
\\`hen 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 yeai-s ago. weren't introduccd to
artificial aids until they were srveral
years old.

;\nother striking developnient is pticu-
niatic 1,rostheses-artificial limbs po\vered
hy carhon dioxide. In response to a slight
pressurc from a body inuscle they produce
a niucli more refined and controlled nm-
tion than earlier devices. Invented a little
iiiorc than IO years a~o, these ~me~iniatic
linilis are heitig pericctcd rapidly. Other
reucarcliers ai-e ti-yiiiC to dc
toi-izetl devices that may cveii more closely

FAMILY CIRCLE

88

approximate the workings of natural arms
and hands.

HELP FOR JERRY'S PKU

.ZT,OKG with advances in surgical cor-
rection and rehabilitation technic~ucs, neiv
kiio\vlctlgc of "hitldcii defects" is making
dramatic progress.

"\Vc were cunvincetl that our son was
' the most perfect ne\vl)orn in the nursery."
Jerry's mother recalls.

To all outn.art1 appearances he 7i'm per-
fect-healthy. active. off to a good start
in life. Only chaiice alerted his doctor atid
parents in titile to krep him that \\.a)-.
Jerry was born at a time \vhen tile uell-
baby cliuic in his liotne toiz'u \vas conduct-
ing studies of a test of P/irir~l/:r~o/irrI.itr
(F'KC'), a defect in the hody chemihtry
that prevents assimilation of an amino
acid (phcnylalaniiie ), found in most pn-
tein foods. Ill~en a child has PKI. tllc
acid is not used as tratiire ititended. 111-
stead it hacks up and evcntually fi~td its
\vay to the brain where it causes ii-reversi-
hie darnage.

\\'hen a certain cheniical \vas put oI1
Jerry's wet diaper. a grcen ring all-
peared around the cdges of the urine
stain. This shci\ved Jerry had a positive
tendenc>- toward PKI~. Hc \vas started on
a special diet Ion. in pheuylalartine to prc-
yent thc build-up of the ddly escess iu
his system.

Simply by stayiug on this diet. Jeri
has hcen spared a life of uicntal deficieuc
that. only a fc\v years ago, \vould have
been unavoidahle.

Effective as the diaper test n'as in
Jerry's case. unfortuuately it \vas not
valid until an infant was several weeks
old. Ry that time. such a baby had left
tlie hospital aud might or might not he
seen again in time to detect rIic- before it
hegan to exact its toll.
However, in the past two years 111..
Robert Guthrie. a Xational Foundatioii-
llarch of Dimes grantee at the State L-n-
versity of Ke\v York in Buffalo, has de-
veloped a blood test for this disease. PKI.
shows up iu the blood much earlier than
it does in urine. \\'it11 the Guthric test.
involving a drop of blood from a ue\v-
born's heel, PKV hahies can he diagtlosetl
and their protective diet prescribed before
they ever leave tlie hospital.
Gniocfosrriiitr is a defect of body chem-
istry that prevents normal tolerance of
milk sugars : if unrecognized. it can re-
sdt in mental retardation, cirrliosia (if
the liver. and hlindness. Only in rrcent
ycai-s has there heen a diagnostic teqt fot-
galactosemia ; wheii it is detected \vitliiti
the first month of life, heforc appreciahle
damage has hcen done. the ininiccliatc~
institution of a milk-free diet usuallj- pro-
vides complete protection.

The conquest of meiital rctartlatioii aid
other neurological damage caused 1)y I'://
Olood jtrctor ~//~.~~///~[iti~~i~;f~' is taken for
granted thesc days : the first hreak-
through in understanding its cause came
iir 1931. Totlay thesc complications are
completely preventahlc \\hell the cod-
tion is knoxvn before or early in pregnancA-
and can he &refully \vatclied by ohstetri-
cian and pediatrician. If uccessary the iu-
fait is given an exchange blood transfu-
sion right after hirth.

.L\nother hidden defect, dcficirnc.y of
            [To Page 901

JANUARY 1964

89

1. T)IET. I\ tiiiithcr's health affects licr
hhy. 1f;itc 1m11 health houltl IIC developetl
from cai-ly atlolesceiire by a diet rich in
1: 1.1 J t ei 11, 111 in el-a1 >, antl yi tam in s. I) iir iiig
1 :I-<.? naticy , IJO f i 11 I o \\ the tli e t pr e sc r ihcd
11y !our tloctcir.

     . Drugs may harm hotli tlic
niother aiid her unl~cirn child.

r\t thy.; of prcpnancy. If X rays ai-c
ahsilutely iiecess;iry. your tloctcir can take
1,1-,1pcr 1irecautioiis. If you hiow that yciu
;I:W ~iiwgiimt. 111- .;uslrcct that yon may he,
lie hiire ttJ tell ytlui- tloctiir.
4. R H F.\rroR. LT'ntler certain contliti~ins
?hc, l<h iactt~l- may cxtise serious illness in
;rii unliiir~i child ; hut effective treatment is
,iftc~i poisihlc at hirth. 110 learn. hefort,
i>repiiancy. hnth your oivii and your hiis-
haiitl's hlootl type. r>iscus.; this with your
tlijctor.
5. I~isi~.~~i~s. German measles in a
rii~)tlier in the fii-st tlircc months of prcg-
nancy soiiietitiies causes tiialfortiiatioiis of
llie hahy : other viruscs are heing investi-
catcd as Imssihle culprits. Dori't ktiow-
iiiplJ- csliox yourself to infections duriiig
iircgnancy. hiit do try to have your daugh-
lcr c-xposetl to (;crman measles heiore >lie
fini\hcs high school.

1.v ii~vs and weeks of preg-
II iiioyc iiirpriricrrri than later
r h;tl,y's development. Your

{ ovtor's counccl regarding pregnaiicy atid
ilic care oi j.l]iir utihorii child is impera-
. . 110 ciiiiiiilt liini :I? sooii aa you stis-
:wet you are pi-eqii:uit, and ~ireft~ahly also
1- i,iilrl..

90

FAMILY CiRCLE