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, lrepiiancy. 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