CHAPTER 21

The Special Needs Baby

After nine months of hoping for a perfectly healthy baby, it can be devastating to give birth to a child who has special needs. If the condition affecting the baby wasn’t detected prenatally, shock can compound feelings of pain and disappointment. But as hopeless—and helpless—as you might feel when you first discover that your baby has been born with a birth defect or a chronic medical problem, it may help to know that with time, such feelings eventually fade. As you learn to cope with the complexities of having a baby with special needs, you’ll come to see past the problems to the child underneath—a child who needs, above all, what every child needs: your love and attention.

Keep in mind, too, that medical technology has made tremendous strides in helping improve the prognosis for these babies. In many cases, a birth disorder—even one that seems so frightening at first—is relatively easily corrected with surgery, medication, physical therapy, or other treatment. In other cases, the condition—and the outlook for the baby—can be greatly improved. In still other cases, learning to live with a baby’s disability—rather than overcome it—becomes the major objective. Even then, parents often find that raising a special needs baby adds another dimension to their lives—initially challenging, ultimately enriching. Though caring for such babies can easily be double the effort, it can also bring double the rewards. As time passes they often discover that their child, in addition to teaching them something about pain, has taught them a lot about love.

While much of the general information in this book is useful to parents of a child born with birth defects, this chapter deals with some of the adjustments and decisions that are unique to their situation. If your baby was also premature, it will be helpful to read chapter 20.

Feeding Your Baby: CAN DIET MAKE A DIFFERENCE?

All parents want their children, disabled or not, to be the best they can be. Ensuring optimum nutrition—from birth on—is one way to help children develop to their greatest potential, whatever that potential might be. While a good diet can’t change the fact that a child has a birth disorder, or may not even improve his or her condition, it can have an impact on general health and can affect behavior, learning ability, and development. There’s no evidence, however, that dietary manipulation (feeding a special diet, for example, or giving vitamin megadoses) can significantly improve the medical condition of a child born with a birth disorder, except in cases where the defect is diet related.

For the child with no such unusual dietary needs, the best in nutrition begins with breast milk, when possible, or commercial infant formula, and then the First Year Diet for Beginners; see page 316.

What You May Be Concerned About

FEELING RESPONSIBLE

“Our doctor just told us that our baby has a birth defect. I can’t help feeling that I’m somehow responsible—that I could have done something to prevent his problem.”

Parents often feel responsible for the bad things that happen to their children; even a tumble precipitated by a toddler’s own normal clumsiness can prompt his parents to beat themselves up (“Why didn’t we watch him more carefully?”). When a child is born with a birth disorder, the guilt can be overwhelming and debilitating. But birth disorders are rarely caused by anything a mother or father has done—and unrelieved guilt can prevent you from bonding with and caring for your baby. Accepting that the cause was out of your control can help you begin the process of coming to terms with your baby’s disability—a process that must begin before you can start learning to live with and love your newborn.

Speak to your child’s doctors for more reassurance. If that’s not enough to help you put the guilt behind you, try speaking to other parents who’ve weathered the same storm. Inquire at the hospital about support groups in your area, or chat on-line with other parents whose babies have the same disability. You’ll soon find that the feelings you’re experiencing are virtually universal among parents of special needs children. Knowing that you’re not alone can help immeasurably.

FEELING ANGRY

“Ever since I gave birth to my daughter, who has Down syndrome, I’ve been angry at everyone—the doctors, my spouse, my parents, other parents with normal babies, even the baby.”

Why wouldn’t you be angry? Your dreams of nine months, or maybe longer, have been shattered. You look around at friends, neighbors, relatives, strangers at the supermarket with their normal babies, and you think bitterly, “Why not me?” The fact that asking this question yields no satisfying answers further fuels your frustration. You may be angry at the doctor who delivered your baby (even though he or she wasn’t at fault), at your spouse (even without logical reason), even at your normal children.

WHEN THE GUILT IS REAL

Occasionally, as in the case of fetal alcohol syndrome, the development of a birth defect can be traced to a mother’s actions, making the guilt that burdens nearly all parents of babies born with birth defects all the more difficult to handle. It’s important to remember, however, that alcoholism is as much a disease as diabetes is, that alcoholic mothers drank not because they wanted to hurt their babies but because the disease was controlling them. If your baby’s defect can be pinpointed to this type of problem, seek professional help now to deal with it and to prevent any further negative impact on this baby and babies you may have in the future.

It’s also important to keep in mind that even when guilt does have a basis, it does no one any good—least of all your baby. Instead of wasting emotional energy berating yourself, concentrate on the positive steps that can be taken to make your baby’s future, and your family’s, the best it can be.

Accept your anger as normal, but also recognize that, like guilt, it isn’t a particularly productive emotion. Being angry takes a lot of energy—energy that really should be focused on your baby and her needs. You can’t change the past, but you can make a huge difference in your child’s future.

NOT LOVING THE BABY

“It’s been almost a month since our daughter was born with a birth defect, and I still don’t feel close to her. I wonder if I ever will.”

Because bonding is a gradual process, even parents with normal babies often take months to feel really close to their newborns. For parents with disabled infants, who must let go of the idealized baby they were expecting before they can open their hearts to the baby they’ve actually given birth to, the process is, understandably, even more gradual. And, as is true with parents of normal infants, getting to know your baby is the first step in learning to love your baby. To do this, interact as you would with any newborn—singing lullabies, cuddling, stroking, and kissing. Not only will this help you feel closer to your baby, but it will help you look past her birth defect so that you can discover and focus on her endearing qualities (every child has them).

Talking to other parents of babies with similar disabilities will help you realize that your feelings are completely normal and undoubtedly fleeting. If you don’t feel closer to your baby as time passes, then seek counseling from someone experienced in working with parents of children with birth defects or join a regular support group. Your doctor or hospital should be able to direct you.

“Doctors tell us our little boy may not make it, so we’re afraid to get too attached to him.”

Parents of babies whose lives are in jeopardy—either because they’re very small or very sick—often share this fear of loving and losing, and consciously or subconsciously avoid bonding with their newborns. In general, though, parents who allow themselves to get to know their critically ill babies (even if only through the portholes of an incubator) end up having an easier time coping if the child doesn’t survive than do those who keep their emotional and physical distance—perhaps because they’re better able to grieve. But by far the best reason for showering love on your critically ill infant is that you’ll be providing him, in a sense, with a reason for living. The love of his parents can have a significant impact on your baby’s will to survive and might actually help to pull him through.

WORKING OUT YOUR FEELINGS

Maybe it’s guilt you’re feeling, or anger, or frustration. Maybe you’re having trouble bonding with your baby or connecting with your spouse. No matter what’s getting you down, joining a support group with other new parents who are in the same boat as you (check on-line, at the hospital, or with your baby’s doctors) can help you work out your feelings with others who know how you’re feeling. So can open communication with your spouse, who is faced with the same experience but may be confronting it differently. If these steps don’t work, seek professional help as soon as possible to prevent your feelings from interfering with your relationships with your baby, your spouse, and with your other children.

WHAT TO TELL OTHERS

“Our son’s birth defect is very obvious. People don’t know what to say to me when they see him, and I don’t know what to say to them.”

Even people who never seem to be at a loss for words often are when confronted with a child who has a birth defect. They want to say the right thing, but they don’t know what the right thing is. They want to be kind and supportive, but they don’t know how to be either. They want to congratulate you on the birth of your baby but feel almost as though condolences would be more appropriate. You can help them, and yourself, by acknowledging their discomfort, opening the way for them to express their feelings. If you’re feeling able to, let them know you understand if they’re uneasy, that most people are at first, and that it’s perfectly natural. Beyond this, all that a casual friend needs to be told is that though your newborn has a birth defect, he’s yours, you love him, and you intend to treat him as normally as possible—and hope that they will do the same.

Of course, this is a rational approach to the situation, and you may not feel rational at first. You may want to ignore the staring strangers, and sometimes even well-intentioned friends and family—or to lash out at thoughtless or tactless remarks. Don’t be hard on yourself if you’re initially too upset to put others at ease. With time and, if necessary, sensitive individual counseling or group therapy or support, you’ll become better able to cope.

Friends and relatives who will be in closer, more frequent contact with your baby will, of course, need to know more. In addition to being encouraged to be open about their feelings, they will have to be educated about your child’s problems and special needs. Provide them with reading material or Web sites about your child’s medical problems, ask the baby’s doctor to speak with them, encourage them to talk informally to other family members of children with birth defects, or refer them to a support group. Include them in your baby’s care—give them the opportunity to hold, diaper, bathe, and play with him. In time they, too, will come to see him as the lovable baby he is.

Sometimes close relatives, particularly grandparents, feel guilty (“Did I contribute a faulty gene?”), or angry (“Why couldn’t you give us a healthy grandchild?”), or think they have all the answers (“Feed him this food,” “Go to that doctor”). If your efforts to involve them in your baby’s life and educate them about his problems don’t help to overcome such attitudes, and if their negative input continues to threaten the delicate equilibrium of your nuclear family, keep lines of communication open, but don’t let their problem become yours.

In spite of your best efforts, there will always be people who—because they just don’t know any better—will make cruel and insensitive comments, under-value your child because he is different, and feel uncomfortable around him. There will be times when both you and he will be hurt by their intolerance. As much as you might like to educate the entire world, it isn’t possible. You’ll just have to learn to hold your head high and ignore the narrow-minded people you can’t reach.

HANDLING IT ALL

“We love our new baby, even with all her problems and the special care she requires, but with another small child to care for and care about at home, I feel totally overwhelmed and unable to cope.”

Raising a child with a birth defect can be both physically and emotionally draining, even for the parent with no other children at home. The pointers in chapters 23 and 24, which can help any new parent, can help you, too. But you’ll also need more:

More breaks. If you are a full-time parent (and many parents of disabled children are, choosing to postpone returning to their jobs), then you’ve got to find ways of getting out of the house, away from the stress of caring for your child day in and day out. Take off at least a few hours a week (an hour or two every day would be even better), leaving the baby with a relative, friend, trusted sitter, or baby nurse. Or take your breaks when your spouse gets home from work each day, and on the weekends when he’s not at work. (But also make sure you take some breaks together; a weekly “date night” is important for all new parents but essential for parents of a special needs baby.) Have lunch with a friend, work out at the gym, see a movie, get a facial or a haircut, or just browse through a mall—whatever will relax you most and give you the greatest psychic boost. If you have another child, try to take some of your breaks with him or her; both of you will benefit from the oneon-one time that’s become so scarce.

More release. Don’t bottle up your worries, fears, complaints—air them with your spouse, your own parents or siblings, your best friend, your doctor, other parents in your situation, or a professional counselor if necessary. You may not feel ready to face a support group for parents of children with similar problems at first, but you may find this extremely helpful (not just in terms of emotional support, but for practical and logistical tips) later on. On-line chat rooms, which allow you to get that support any time of the day or night, may be even more convenient. Keeping a journal is another way to express your feelings and work out your anxieties. Record problems and progress, what you’ve done and what needs to be done. Seeing your life on paper may help make it seem more manageable.

BE A FRIEND IN DEED

Few people know what to do or say when they hear that a friend, relative, neighbor, or casual acquaintance has given birth to a child with a birth defect, a child who is seriously ill, or one who dies at or shortly after delivery. There are no pat answers; every individual and every situation is unique. But in general, these approaches are the ones likely to help the most:

Lend an ear. Don’t say, “I know how you feel,” unless you’ve been there yourself. Don’t say, “You’ve got to be brave,” or offer any other platitudes, as well intentioned as they may be. The new parents in crisis will get plenty of advice from the professionals. What they need from you is unconditional love, unswerving support, and a willing ear. Listen to what’s on their minds and in their hearts without being judgmental or offering your viewpoints. Let them vent their feelings, whatever those feelings may be (you can expect them to be angry at times, despondent at others) and sympathize with them—this will be the best therapy.

Become informed. If the parents seem to want to talk about their baby’s problems, listen. But if they’ve told the terrible tale too many times already, get your information second- or third-hand from a relative or friend so they needn’t relive it again. To be better able to understand what they are going through, read this chapter (and if relevant, the previous one) and get further information, if you feel you need it, from the March of Dimes or from an organization that deals with the baby’s specific condition.

Use body language. Often when words fail, the squeeze of a hand, a loving hug, a sympathetic look will get the message that you care across.

Keep in touch. Because you’re not sure what to do or say, it’s often easier to do or say nothing, avoiding the friend who is going through a crisis. Those who have been on the receiving end of such behavior almost always say, “I’d rather hear the wrong words than none at all.” So keep those phone calls, visits, and invitations coming. And though you shouldn’t force your company on someone who would rather suffer their pain alone, don’t give up after one “We’re not up to it yet.” Try again soon.

Help out. There are innumerable chores friends and family can take over when new parents are mourning the loss of an infant or are faced with one who is hospitalized or needs a great deal of attention. Cook a meal, baby-sit for older children, do the laundry, offer to vacuum, wield the dust cloth, or even take over with the baby for an hour or two if possible. Any way in which you can lighten the burden will doubtless be appreciated.

More help. You can’t do it alone. If you can’t pay for help with household and childcare chores, you will need to rely on friends and family more than most. You needn’t feel guilty about it, as long as you don’t take the time and energy given by others for granted. Though you may feel like the sole beneficiary of their kindness, they also benefit—perhaps even more—by helping.

GETTING THE RIGHT DIAGNOSIS

“According to our family doctor, our son has a very serious congenital disorder. I just can’t believe it—everyone in our family is so healthy.”

JUST THE FACTS

The Internet has become a valuable source of information and support for parents, particularly for parents of special needs children. Without having to leave their homes, or even their babies’ sides, parents who want to learn everything they can about a birth defect or another health problem can access hundreds of resources. Parents who crave the companionship of others who can understand and empathize can join chat rooms, where experiences and insights are shared freely. So, by all means, tap into the Internet for help in coping with your child’s disability. But keep in mind that there’s plenty of misinformation on the information highway. To make sure you’re getting your facts straight, always run what you’ve learned by a medical professional before accepting it or considering using it in your child’s care.

Serious illness, especially in our children, is difficult to accept. The first reaction is almost always denial: You cling to the hope that someone’s made a mistake. The best way to resolve your nagging doubts is to double-check the diagnosis—no one, after all, is infallible. So if you haven’t already, do have your child thoroughly examined by an experienced neonatologist (or other appropriate pediatric subspecialist: geneticist, neurologist, cardiologist, for example), one familiar with the condition that’s been diagnosed, and be sure that all appropriate tests are carried out, both to verify the diagnosis and to uncover any other problems that may exist. You can help ensure an accurate diagnosis by giving examining physicians as much information as possible about your family’s medical history (including any familial genetic disorders) and your pregnancy history and behavior (including tobacco use, alcohol or drug consumption, medications taken, illnesses, especially with accompanying fevers, and so on). Your candid answers may, in fact, help a doctor to pinpoint an elusive diagnosis.

If the consulting doctor concurs with the first, you can be pretty sure their diagnosis is correct—and taking your child from doctor to doctor won’t change the facts. Though there’s always that one-in-a-million chance that even several doctors are wrong, the odds are much better that a problem does exist.

But be certain that you’re completely clear about what the diagnosis is. The first time parents are told their newborn child has a birth defect, it’s not unusual for most of the details to be washed away in a tide of overwhelming shock. What they hear is “Your child isn’t normal.” Beyond that, everything’s a blur. So request a second meeting with the doctor when your head is a little clearer (don’t expect your thinking to be very focused for a while). In addition to the information you get from the doctors and/or nurses caring for your baby, seek out information in books, from parents in similar situations, and from organizations concerned with disabled children and/or your baby’s particular problem (call for information or visit their Web sites), from the local or national March of Dimes office, or other resources listed on page 632. Don’t rely, however, on advice from well-meaning but uninformed family or friends—it’s likely to be based more on mythology than on medicine.

WHERE TO GO FOR HELP

How can you find the resources that can best help you help your baby? The following organizations are good places to start:

March of Dimes
888-Modimes
www.modimes.org

Clearinghouse on Disability
Information
Switzer Building, Room 3132
330 C Street SW
Washington, DC 20202 202-205-8241

Birth Defects Research for Children,
930 Woodcock Road, Suite 225
Orlando, FL 32803
407-895-0802
www.birthdefects.org

National Institute of Child Health
and Human Development
800-370-2943

The National Information Center for
Children and Youth with Disabilities
P.O. Box 1492
Washington, DC 20013-1492 800-695-0285
www.nichcy.org

National Health Information Center
(NHIC)
P.O. Box 1133
Washington, DC 20013-1133
800-336-4797
www.health.gov/nhic
(Can provide the names of
organizations involved with
specific disorders.)

Before you take your baby home, ask his doctor exactly what you can expect (in terms of behavior, development, medical problems) and what warning signs you need to be on the lookout for, as well as what you and the rest of your family can do to help your baby reach his potential. Take notes so that you’ll have them to refer to when you go home.

WHETHER OR NOT TO ACCEPT TREATMENT

“Our baby boy was born without part of his brain. The doctors say he has no chance of living, but they want to operate on him to keep him alive a little longer. We don’t know what to do.”

While the issue of whether or not babies who have no hope of long-term survival should be treated and kept on life-support systems has become a major ethical one for society, it is now a painfully personal one for you. Your decision is one that, if at all possible, probably shouldn’t be made without first talking it over with your family, a religious counselor, the baby’s doctors, and the hospital ethicist, if there is one. In many cases there will be time for such reasoned decision making. Even when there isn’t, and time is of the essence, there is usually a chance to talk with your baby’s doctors and, possibly, a hospital chaplain. The doctors can usually tell you the quality of life you can expect your child to have if kept alive, and whether treatment will improve the quality of his life or only prolong his dying. The chaplain can explain the religious issues involved, and the ethicist, your legal rights and responsibilities as well as the ethical issues. When you make your decision, consider all the information and counsel you’ve received, but do what you believe in your heart to be right—because no matter what it is, that’s the decision you will be able to live with best.

In some cases, parents of children for whom there is no hope have found some solace in being able to donate some of their baby’s organs to save the life of another sick infant. This isn’t always feasible—sometimes for medical reasons, sometimes for legal ones—but do ask your doctor and hospital authorities about the possibility of organ donation if it interests you.

GETTING THE BEST CARE AND TREATMENT

“We’re determined to give our baby, in spite of his disabilities, the best possible chance in life. But we’re not sure how to do it.”

Your determination to help your child greatly increases his chances of enjoying a productive and satisfying life. But there’s much more you can do, and the earlier you begin the better. Most babies with serious birth defects get the best start in a major medical center, but occasionally a community hospital is equipped with an excellent neonatal intensive care unit (NICU). A hospital near your home has the benefit of allowing you to visit regularly, which sometimes will compensate for a lack of scientific sophistication.

Wherever your child is treated, you’ll want to have him cared for by a physician who specializes in dealing with his particular birth defect—though often day-to-day care can be provided by a local pediatrician or family doctor under the supervision of the specialist. For multiple birth defects, a team approach to treatment is best. The team may include physicians from various specialties, psychologists, physiotherapists, nutritionists, social workers, as well as a neonatologist and, usually, the baby’s own doctor. If you aren’t sure how to locate the appropriate specialist or specialists, and the hospital staff can’t help you, you can contact the March of Dimes, or the other helpful organizations listed in the box on the opposite page.

Though excellent medical care and, often, early educational intervention will be crucial to your child’s development, in most cases the home environment you create will be even more significant in determining how well he is prepared for life and whether or not he reaches his maximum potential. The primary need of most children born with birth defects is to be treated like other children—to be loved and nurtured, but also to be disciplined and expected to meet standards (which should, of course, take into account their individual limitations). Like other children, they need to feel good about themselves—to know that each step forward, no matter how small, is appreciated and applauded, and that they won’t be expected to keep up with the baby next door, only to live up to their own possibilities.

A wide range of therapies, as well as high-tech aids—everything from adapted playground equipment and toys to special education software, cochlear implants (to aid hearing), and robotic devices—are now available to help you help your disabled child grow, develop, and enjoy. Ask a member of your child’s care team about them, or check with the appropriate organization for information.

EFFECT OF BABY ON SIBLINGS

“We’re worried about how well our normal three-year-old daughter will handle the changes that having a brother with a birth defect will bring to her life.”

Sharing her home with a disabled sibling will undoubtedly bring changes to your daughter’s life. And since the sibling relationship is usually the longest-lasting one in the family, those changes will continue to affect her not only as long as she lives in your home, but as long as she and her new brother live. The good news is that the changes can turn out to be largely positive—ultimately, even profoundly positive—if you take steps now and throughout your daughter’s childhood not only to help her cope with the challenges of being a sister to a special needs sibling, but to let her know that she’s special, too. In fact, having a disabled sibling makes children, on average, more patient and understanding, as well as more adept at getting along with different kinds of people. But being without that much-needed support can force a child to seek parental attention any way she can, putting her at risk for a variety of emotional and behavioral problems, from feeling displaced and devalued, to becoming withdrawn or aggressive, to developing psychosomatic symptoms, to acting up or doing poorly at school.

To make sure the changes in your daughter’s life turn out to be largely positive, she will need:

Lots and lots of support. Most children with special needs siblings don’t need counseling, just some extra understanding. Much of the support your daughter will need can—and should—come from you, in the form of unconditional love, generously dispensed. But it can also come from other children who understand how she feels. Many hospitals and organizations sponsor programs for siblings; check into this possibility in your area. Such a program gives children a chance to talk about their worries—and swap stories and strategies—in a safe and supportive environment, and to learn that they’re not alone.

The facts, on her level. Sometimes, parents try to protect an older sibling by keeping details about the new baby’s medical condition away from her, or even avoiding the subject entirely. Since the imagined is always worse than the reality, at least in the minds of small children, this inevitably does more emotional harm than good. Sit your daughter down and share, on a very fundamental level, the facts about your new baby’s condition. Invite her questions, and answer them honestly—giving as much information as she asks for, but not more than she can handle. Look for books geared for young children with special needs siblings to help reinforce the facts, as well as to let her know that she’s not alone. But while you’re letting your daughter know what’s different about her new brother, don’t forget to point out what’s the same: that he has the same blue eyes as she does, that he likes being cuddled and cooed to just like all babies do. Also point out differences that have nothing to do with his birth defect (he has dark hair and she has blond) so that she learns that there’s nothing wrong with being different.

To know it’s not her fault. Young children—because they’re naturally egocentric—tend to blame themselves for anything that goes wrong in a family. It’s important to let your daughter know through reassuring words and actions (for instance, lots of hugs and kisses) that her brother’s birth defect is no one’s fault, least of all hers.

To know that she doesn’t have to be perfect. Some older siblings, when confronted with so much stress at home, feel as though they have to be on their best behavior—to be the “perfect child”—in order to compensate for the baby who isn’t. Letting your daughter know that she’s loved unconditionally, just the way she is, will help her feel secure enough to be herself.

A chance to vent. Every older sibling has her share of ambivalent feelings, even antagonistic feelings, about the new arrival. Your daughter may have more than her share of such feelings—simply because that new arrival has disrupted family-life-as-usual to an even greater extent than most babies do. Encourage her to talk her feelings through without censoring her, letting her know that you have some mixed feelings of your own. Some children will prefer to work out their mixed emotions through dramatic play, others through artwork.

As your daughter reaches school age, her feelings may become complicated by social pressures. She may feel embarrassed by having a disabled sibling or may be teased about it by friends or classmates. Again, letting her talk her feelings through freely (not only with you but, if possible, with other children who face the same challenges) and arming her with coping strategies will help her overcome these hurdles.

As normal a life as possible. In the face of all the upheaval a special needs baby has inevitably brought into your home, it’s essential that your daughter’s life remain as normal as it possibly can, given the circumstances. Rather than trying to make up for lost attention through expensive presents or elaborate excursions (which may only make her feel less settled), attempt to keep the normal routines that small children find so comforting. If bedtime has always come with a bath and three stories, now would not be the time to cut out the bath or cut down to one story. If she ordinarily has play dates a few times a week or dance class on Mondays, make an effort to keep her accustomed schedule. And, as it becomes feasible, plan family outings that include her new sibling.

Her own life. Many new siblings of normal babies begin to feel that their lives—like their parents’—have taken a backseat once a new baby comes on the scene. When the new baby has special needs, this is even more likely. To protect your child’s fledgling sense of self, make sure she has her own space, her own friends, her own identity, her own life. When you start feeling up to it, holding play dates at your home will allow her to feel as though having a disabled sibling is nothing to be ashamed of. But as the baby grows older, don’t expect your daughter to always include her special needs sibling in her play or activities.

Time with you alone. Don’t forget that your older child’s needs—and her need for your attention—are at least as great as those of your special needs baby. Even if your little wheel doesn’t squeak (some older siblings bravely try to put their needs on hold when they see how much stress their parents are under), make sure she gets oiling. As impossible as it may sometimes seem, try to devote some uninterrupted time each day to just her: have tea with her teddy bears, read stories or put together a puzzle, push her on the swings at the playground. Taking turns with your spouse on the baby care—and spending one-on-one time with your older child—will help ensure that she’ll get what she needs from both of you. When you can’t spend time alone with her, try to include her while you’re caring for the baby (buying her a doll of her own to care for may help her feel more in control of a situation that’s largely out of her control, while giving her the opportunity to work out her feelings through dramatic play).

For a newsletter and more information, ideas, and the latest research on the challenges facing siblings of disabled children, contact the Sibling Information Network, 1776 Ellington Road, South Windsor, CT 06074; or The Sibling Support Project, CL-09, Children’s Hospital and Medical Center, 4800 Sand Point Way NE, Seattle, WA 98105, www.thearc.org/siblingsupport.

EFFECTS ON YOUR RELATIONSHIP

“My spouse and I have cried a lot together since our son was born with a birth defect, but that’s been the extent of our relationship. I’m afraid we’ll never have emotional energy to spend on each other again.”

All new parents discover that having a baby in the house makes finding time as a twosome challenging. For new parents of babies born with a disability, the challenges are even greater. After all, caring for your baby zaps not just physical strength but emotional reserves as well. You are learning not only to be a parent (a tough enough task for those who come to the job without experience), but a parent of a special needs child. Your days and nights are consumed not only with the normal logistics of life with a newborn, such as feedings and diaper changes, but with endless medical logistics—not to mention endless questions, concerns, and worries.

But just because your relationship has been taking a distant backseat to your son’s birth doesn’t mean it always will. Most couples find that having a special needs child doesn’t undermine their relationship; many, in fact, discover that the experience actually strengthens their twosome. To help nurture your relationship as you nurture your newborn, make sure that:

The work is shared. No one can single-handedly care for a disabled child and still have the energy left to be a loving partner to a spouse. If your spouse works all day while you stay at home, let him take over at least some of the baby-care responsibilities in the evening so you can have a break. If he’s considering taking on a second job to ease the financial strain of your not working, it might be better for you to take a part-time job and to transfer more of the childcare load to him. Hired or volunteer relief child care, for at least a few hours a week, and/or household help can also ease the burden and free up some time and energy for each other.

Each partner gets enough support from the other. Both of you have hurts that need healing; both of you need to make adjustments in your lives. (Many people fail to realize that the father of a disabled child may be as much in need of emotional support as the mother.) Facing the future as a team will be infinitely more productive and satisfying than facing it as individuals. Share your problems and concerns, and protect each other from outside assault (from overly critical grandparents, for example).

You make time for each other. All new parents need to make a concerted effort to make time alone for each other—or the time just doesn’t happen. And as particularly difficult as it may be for you and your spouse, you need to do the same. See page 689 for tips.

You give yourselves time. Romance may be the furthest thing from your minds right now, and it may take a few months before any desire returns. This is the rule among most newly delivered couples, and it is even more likely in your situation. So instead of pressuring yourselves to perform sexually when you’re not emotionally ready, wait until you are. Remember, you don’t have to make love to show love. Hugging and hand-holding—sometimes even a good cry together—may be, more than anything, what both of you need right now.

A REPEAT WITH THE NEXT BABY

“We would like to have another baby within a year or so, but we’re afraid that our daughter’s birth defect might repeat in our next child.”

As common as this fear is among parents of children born with birth defects, in most cases it is unfounded. Their chances of having a normal baby are often as good as those of other parents. But in order to predict the risk in your particular case, the cause of your baby’s problem needs to be determined. There is a wide range of possibilities:

Genetic. If your baby’s defect is determined to be genetic (passed on by genetic material from you and/or your spouse), a genetic counselor or, often, the baby’s doctor will probably be able to give you precise odds on the likelihood of a repeat. In some instances, you will also be able to test future fetuses for the defect early in pregnancy, giving you a chance to prepare emotionally and physically—or the option to terminate—should it turn up again.

Environmental. If the birth defect was the result of a one-time event, such as an exposure during pregnancy to infection, chemicals, X rays, medications, or other factors that interfered with normal fetal development, it is not likely to repeat unless the exact set of circumstances recur at the same critical point in pregnancy.

Lifestyle. If the defect can be traced to your smoking, alcohol consumption, drug abuse, or poor nutrition, for example, it is not likely to repeat in subsequent pregnancies unless the lifestyle mistakes are repeated.

Maternal factors. If a baby’s problems seem related to the mother’s age, the shape or size of her uterus, or other unchangeable factors, they might repeat, though the risk can sometimes be reduced. For example, if you are past thirty-five and have a Down syndrome baby, prenatal testing can diagnose the disorder in future pregnancies. Or if your uterus is misshapen, surgery may be able to reshape it. If a medication—either one prescribed for a chronic health problem or taken for an acute illness—might have triggered the defect, avoiding medication or switching to a safer one can prevent a future problem.

A combination of factors. When more than one factor is involved, predicting future outcomes may be more complicated, but the doctor or a genetic counselor can still be helpful in such cases.

Unknown. Sometimes there is no apparent reason for a baby’s birth defect. Usually such cases do not repeat. But if no one can say why your baby was not born completely normal, it would be a good idea to discuss the situation with a doctor familiar with genetic counseling before becoming pregnant again.

If you do decide to become pregnant again, your obstetrician should be completely familiar with your previous history so that you can be monitored throughout pregnancy for any possible problems. But with good medical care and good self-care, your chances of delivering a normal and healthy baby will likely be excellent.

A DIFFERENT BIRTH DEFECT NEXT TIME

“I’m not so worried about having another child with the same birth defect—I can be tested for that. What I’m worried about is having one with a different defect.”

Even if the chances of a repeat of your first child’s defect in your next baby may be somewhat higher than average (and this isn’t always the case), the same would not be true of other unrelated defects. In fact, you and your spouse have just as good a chance of producing a child free of other birth defects as any other set of parents.

As reassuring as these odds should be, it’s normal to still harbor some nagging fears after what you’ve already gone through. To help ease them, talk to your doctor, consult a genetic counselor, and follow the precautions listed in the previous question.

What It’s Important to Know: THE MOST COMMON BIRTH DISORDERS

If your child hasn’t been diagnosed as having a birth disorder but you’ve noticed symptoms that lead you to look through the information in this chapter, remember: What you notice may indicate something far less serious than you’re imagining. But do check with your baby’s doctor. It may take more than a phone call to allay your fears; an examination or special testing may be necessary. If a problem does turn up, early recognition and prompt medical attention and therapy can often be beneficial or even correct the problem completely.

AIDS/HIV PERINATAL

What is it? HIV infection usually has no symptoms, but it often eventually causes AIDS, a serious immune disorder.

How common is it? Becoming less common in newborns, since treatment of infected women during pregnancy and of their infants after birth has markedly decreased the rate of transmission from mothers to babies.

What causes it? The human immunodeficiency virus (HIV), most often passed on from mother to child during pregnancy, childbirth, or breastfeeding.

Treatment. Antiviral drugs for HIV positive mother during pregnancy, for child after birth.

Prognosis. Many children survive for several years. Both survival and quality of life are improved with antiviral drug treatment.

ANENCEPHALY

What is it? A neural tube defect in which the failure of the neural groove to close normally early in pregnancy leads to lack of brain development. All or a major part of the brain is absent.

How common is it? Very rare in full-term babies, since 99 percent of fetuses with the defect are miscarried.

Who is susceptible? Not known.

What causes it? Heredity is probably involved in some way, along with adverse prenatal environment. Folic acid deficiency in the mother can also cause anencephaly (and other neural tube defects). Incidence has been reduced by use of vitamin supplements containing folic acid before conception and through the first two months of pregnancy, as well as the fortification of cereals and breads with folic acid.

Related problems. All body systems are affected negatively.

Treatment. None, and most doctors agree that no medical intervention is best, though the baby should be kept as comfortable as possible.

Prognosis. The condition is incompatible with life.

AUTISM

What is it? An inability, which dates from birth or develops within the first two and a half years of life, to develop normal human relationships, even with parents. There are great differences among children with autism. Some who are mildly affected may exhibit only slight delays in language and greater challenges with social interactions than is typical. Others who have a more severe form of autism don’t smile or respond to parents or anyone else in any way and dislike being picked up or touched. There are often extreme problems in speaking (including strange speech patterns, such as one in which the child echoes the words just heard rather than replying), strange positions and mannerisms, erratic and inappropriate behavior (compulsiveness and ritualism, screaming fits and arm flapping), and, sometimes, self-destructiveness. The child may have normal intelligence but appear to be retarded or deaf because of lack of responsiveness. Autism may sometimes be confused with childhood schizophrenia, and occasionally may precede it.

How common is it? There are an estimated 2 to 6 cases per 1,000 babies.

Who is susceptible? Male children are three to four times more likely to be autistic than females.

What causes it? Autism has no single cause. Researchers have identified a number of genes that play a role in the disorder. In some children, environmental factors (including maternal smoking while pregnant) also may play a role in development of the disorder. Several studies suggest that autism may be caused by a combination of biological factors, including exposure to a virus before birth, a problem with the immune system, or genetics. It is not related to parenting or currently used vaccines.

Related problems. Behavior and developmental problems.

Treatment. At present there is no cure, but some children can be helped with behavior modification therapy, stimulation, special training, and, sometimes, drugs. Early intervention results in dramatically positive outcomes for young children with autism. With appropriate services, training, and information, most families are able to support their child at home. Counseling is often helpful for the rest of the family. Some parents have had success with dietary changes (such as removing sources of gluten and casein from the diet of autistic children), but talk to your doctor before starting any new diet regimen.

Prognosis. Symptoms in many children improve with intervention or as the children age. Some people with autism eventually lead normal or near-normal lives. Outlook is best with early intervention and therapy.

CELIAC DISEASE

What is it? Celiac disease is a digestive disease that damages the small intestine and interferes with absorption of nutrients from food. Children who have celiac disease can’t tolerate a protein called gluten, which is found in wheat, rye, barley, and possibly oats. When children with celiac disease eat foods containing gluten, their immune systems respond by damaging their small intestines. Symptoms may include chronic diarrhea, weight loss, pale, foul-smelling stool, unexplained anemia (low count of red blood cells), gas, fatigue, delayed growth, failure to thrive in infants.

How common is it? While it was once thought that the prevalence of celiac disease was low in America compared to Europe, recent research indicates that the numbers are very similar, with a prevalence of 1 in 150 to 250. Females are affected twice as often as males and whites from northwestern Europe most often. It is rare in blacks, Asians, Jews, and others of Mediterranean descent.

Who is susceptible? Children of parents who both carry the gene for the condition.

What causes it? Unclear, but most likely some combination of environmental factors and genetic disposition.

Related problems. Symptoms of malnutrition such as developmental delay, fluid retention, late teething, and rickets.

Treatment. Gluten-free diet, which usually begins to work in three to six weeks and which must be followed for life. Nutritional supplementation and, sometimes, steroids may also be prescribed.

Prognosis. Usually, a normal life on a gluten-free diet.

CEREBRAL PALSY

What is it? A neuromuscular disorder caused by damage to the brain. Motor impairment may be mild to disabling. The infant may have difficulty sucking or retaining the nipple; drool constantly; seldom move voluntarily; have arm or leg tremors with voluntary movements; have legs that are hard to separate; have delayed motor development; use only one hand or, later, use hands but not feet, crawl in a strange fashion; and walk on tiptoes. Muscle tone may be excessively stiff or floppy, but this may not be apparent until three months of age or so. Exact symptoms differ in each of the three different types of CP: spastic, athetoid, and ataxic.

How common is it? Decreasing in frequency (except in the tiniest newborns) because of safer childbirth. About 10,000 cases a year.

Who is susceptible? Premature and low-birthweight babies, boys slightly more often than girls, white infants more often than blacks.

What causes it? In most cases, the cause of cerebral palsy is unknown, though it is sometimes related to insufficient oxygen reaching the fetal or newborn brain. Premature birth, low birthweight, RH or A-B-O blood type incompatibility between mother and fetus, or rubella in early pregnancy are other risk factors. Cerebral palsy may also result from brain or spinal fluid infection.

Related problems. Sometimes, seizures; speech, vision, and hearing disorders; dental defects; mental retardation.

Treatment. No cure, but early treatment can help a child live up to potential. May include: physical therapy, braces, splints, or other orthopedic appliances; special furniture and utensils; exercise; surgery, when needed; medication for seizures or to relax muscles if needed.

Prognosis. Varies with case. Child with a mild form, given proper treatment, may live a nearly normal life. Child with a severe form may be completely disabled. Condition does not get progressively worse.

CLEFT LIP AND/OR PALATE

What is it? A split (sometimes extensive, sometimes slight) occurs where parts of upper lip or palate (the roof of the mouth) fail to grow together. Some babies have only cleft lip, more have only cleft palate. About 40 percent of affected babies have both.

How common is it? About 5,000 children a year, or approximately 1 in 700 births.

Who is susceptible? More common among Asians and Native Americans, less common among African Americans. Also more common among premature babies and those with other defects.

What causes it? Heredity plays a role in about 1 in 4 cases; after having a baby with a cleft, the odds of having another one increase slightly. But illness, certain medications, lack of essential nutrients (particularly folic acid), and other factors that adversely affect the prenatal environment may also interfere with normal development of lip and palate, possibly in combination with each other and/or heredity.

Related problems. Because sucking is usually difficult, feeding may be a problem, so special procedures are necessary (usually an upright position, small amounts, a nipple with large holes, or a special syringe). It is possible to breastfeed in some cases, especially when only cleft lip is present. The use of an oral appliance can allow a baby with a cleft palate to breastfeed. Ear infections are also common and need to be controlled.

Treatment. Usually a combination of surgery (sometimes in the first few months of life), speech therapy, and dental adjustments (often including braces later in life).

Prognosis. Usually excellent with treatment.

CLUBFOOT AND OTHER FOOT AND ANKLE DEFORMITIES

What is it? An ankle or foot deformity that occurs in three forms. In the mildest form of deformity, metatarsus varus, the front part of the foot is turned inward. This type may not be diagnosed until the baby is a few months old, though it is present at birth. In the most common type of foot deformity, calcaneal valgus, the foot is sharply angled at the heel and points upward and outward. In the most severe and least common, equinovarus, the “clubbed” foot twists inward and downward. If both feet are “clubbed” the toes point toward each other. Clubfoot and other foot deformities are not painful and do not bother the baby until it’s time to stand or walk.

How common is it? Affects 1 in 800 babies.

Who is susceptible? Boys are twice as likely to have a foot or ankle deformity as girls.

What causes it? Not the position in the uterus, as was once believed (cases of this sort correct themselves after birth). Probably a combination of heredity and environmental factors, leading to abnormalities in the muscles or nerves that supply the ankle and foot, in most cases; but some cases are related to spina bifida, nerve diseases, or muscle diseases.

Related problems. With clubfoot (the equinovarus deformity), the foot can’t move up and down as it normally would in walking; the child walks as though on a peg leg. When both feet are affected, the child may walk on the sides or even tops of feet, leading to damage to this tissue and to abnormal leg development. Occasionally there may be other defects as well.

Treatment. Mild cases of foot and ankle deformity may be treated by exercise alone. Plaster casts or surgery are used in more severe cases to force the twisted foot gradually and gently into place so that it can move up and down normally. For clubfoot, early evaluation and treatment by a pediatric orthopedist is essential for best outcome.

Prognosis. With expert early treatment, most grow up to wear regular shoes, take part in sports and lead active lives.

CONGENITAL HEART DEFECT

What is it? Any heart defect, minor or major, that is present at birth. Though the defects can usually be diagnosed with a stethoscope, further tests such as X rays, ultrasound, and ECGs will be needed to verify abnormalities. Depending on the type of defect, one or more functions of the heart may be adversely affected. Symptoms may show up at birth, or not become apparent until adulthood. Cyanosis, or bluing of the skin, particularly around fingers, toes and lips, is the most common symptom.

How common is it? About 1 out of 125 babies in the United States is born with a heart defect.

Who is susceptible? There’s a greater risk among children of mothers who had rubella during pregnancy, Down syndrome children, and those with affected siblings (though their increased risk is slight).

What causes it? In most cases, scientists just don’t know, though genetics appear to play an important role. Certain infections (such as rubella) and some chemicals (thalidomide, amphetamines, or alcohol, for example) are capable of causing heart abnormalities prenatally, but such abnormalities may sometimes be the result of a random genetic error.

Related problems. Sometimes poor weight gain and growth, fatigue, weakness, difficulty breathing or sucking (because of weakness from heart failure).

Treatment. The most common heart defect (VSC, or ventricular septal defect) often needs no treatment—if it is small, it often closes by itself. Surgery (either immediately or later in childhood), which varies according to the defect present, and sometimes drugs or a heart transplant can remedy other heart defects. (In some cases, a defect that causes no symptoms may require treatment to prevent problems later in life.) Sometimes a heart defect can be diagnosed before birth and medication given to correct it.

Prognosis. Most congenital heart defects are treatable; only some very serious ones (and these are rare) may be disabling or even fatal. Most children with murmurs can lead normal lives with no restrictions on activities.

CYSTIC FIBROSIS (CF)

What is it? A condition in which there is a generalized dysfunction of the exocrine glands, the glands that discharge their secretions through an epithelial surface (such as the skin, the mucous membranes, the linings of the hollow organs). When sweat glands are affected, perspiration is salty and profuse, and excessive perspiration can lead to dehydration and shock. When the respiratory system is affected, thick secretions may fill the lungs, causing chronic coughing and increased risk of infection. With digestive system involvement, mucus secretions may make first bowel movements after birth difficult to pass, causing intestinal obstruction. The pancreatic ducts may also be obstructed, resulting in deficiencies of the pancreatic enzymes and inability to digest protein and fat. The stools, containing the undigested materials, are usually frequent, bulky, foul-smelling, pale, and greasy. Weight gain is poor, appetite may be ravenous, abdomen can be distended, arms and legs thin, and skin sallow. Sweat-test screening is used to pick out possible cases of CF, and lack of meconium bowel movement after birth, salty skin, and poor weight gain along with good appetite can be early indications. In some states, the required newborn screening test includes a screen for CF.

How common is it? Relatively rare.

Who is susceptible? More common in those with central and northern European ancestry than in African Americans, native Americans, or those of Asian ancestry.

What causes it? Autosomal recessive inheritance: both parents must pass on recessive genes for a child to be affected.

Related problems. Pneumonia, because of respiratory secretions, is common. Also pancreatic insufficiency, insufficient insulin production, abnormal glucose tolerance, cirrhosis of the liver, and hypertension, among others.

Treatment. The earlier the better, to prevent development of symptoms when possible. No cure exists, but treatment helps a child lead a more normal life. For sweat gland malfunction, generous salting of foods and salt supplements during hot weather. For digestive problems, pancreatic enzymes given by mouth with meals and snacks, limitation of fat, supplementation with fat-soluble vitamins (A, D, E, and K). For various types of intestinal blockages (meconium ileus, rectal prolapse, and so on) associated with CF, both surgical and nonsurgical treatment is available and usually successful. For respiratory problems, copious fluid intake to thin secretions, usually daily respiratory physical therapy (including postural drainage, to help loosen and remove secretions), and oxygen therapy as needed. Room air is best kept cool and dry. Infections are treated with large doses of antibiotics. Initial studies indicate that treatment with anti-inflammatory agents (such as prednisone) may help reduce bouts of illness. A cure may eventually be possible.

Prognosis. Today with early diagnosis, aggressive treatment (particularly at one of the major CF centers), and strong family support, the prognosis is very good, especially for those with less severe disease.

DEFORMATION

What is it? An abnormality in one or more organs or parts of the body caused by external forces on the fetus, such as crowding in utero.

How common is it? About 2 in every 100 babies has some deformity of this type.

Who is susceptible? An extra large fetus in a crowded uterus, or any fetus in a malformed or small uterus or a uterus having fibroids, an inadequate supply of amniotic fluid, or an unusual placental site; a fetus who shares the uterus with one or more siblings. Deformations are most common in babies of small and first-time mothers, and when there is an abnormal presentation such as a breech.

What causes it? Conditions in the uterus, such as those just mentioned, that put undue pressure on one or more developing parts of the fetus. In some cases, a combination of heredity and environmental factors, such as infection, drugs, and disease.

Related problems. Depends on the abnormality.

Treatment. In most cases, none is necessary since the deformed part will gradually resume normal shape. Some conditions, however, such as scoliosis (abnormal side-to-side curvature of the spine), clubfoot, and hip dislocations do require treatment.

Prognosis. Good, for most conditions.

DOWN SYNDROME

What is it? A set of signs and symptoms that usually include mild to severe mental retardation, specific facial features (more obvious in some than in others), an oversized tongue, and a short neck. They may also include a flat back of the head, small ears (sometimes folded at the tops), and a flat wide nose. Hearing and vision may be poor, and various internal defects (particularly of heart or GI tract) may also exist. Down syndrome children are often short and have loose muscle tone (responsible for some of the delayed development). They are also usually very sweet and lovable.

How common is it? Down syndrome affects about 2,800 babies a year, or approximately 1 in 1,300.

Who is susceptible? Babies of parents who have already had a baby with the birth defect, or of a mother or father with a chromosome rearrangement, or of a mother over thirty-five or a father over forty-five to fifty (the risk increases with age). All ethnic groups and economic levels are affected.

What causes it? In 95 percent of the cases, an extra chromosome contributed by either the mother or the father, so that baby has 47 instead of 46 chromosomes. This cause of Down syndrome is called Trisomy 21, because three number-21 chromosomes are present (normally there are two). About 4 percent of the time, certain other accidents affecting chromosome number 21 are responsible. For example, sometimes a piece of a normal chromosome 21 breaks off and attaches to another chromosome in the parent (called translocation). The parent remains normal, because he or she still has the right amount of genetic material. But if this augmented chromosome is passed on to a child, the child can have an excess of chromosome 21 material, resulting in Down syndrome. Very rarely, an accident during cell division in the fertilized egg results in an extra chromosome in some but not all cells. This is called mosaicism, and affected children may have only some Down syndrome characteristics, because only some of their cells are affected.

Related problems. Dental problems, poor eyesight and hearing, heart disease, gastrointestinal defects, thyroid dysfunction, early aging (including Alzheimer’s disease), higher risk for respiratory illnesses as well as leukemia and other cancers.

Treatment. Prenatal tests can diagnose Down syndrome in the fetus. Surgery, after birth, can correct heart and other serious medical abnormalities. Early specialized education programs improve the IQs of Down syndrome children who are mildly or moderately retarded.

Prognosis. Most children with Down syndrome have greater capabilities than previously believed, and early intervention can bring these abilities out, leaving fewer than 10 percent severely retarded. Many can be mainstreamed to a certain age in school; some even go to college. Most later find places in sheltered homes and workshops; some live and work independently.

FETAL ALCOHOL SYNDROME (FAS)

What is it? A group of signs and symptoms that develop during gestation in a child whose mother drinks heavily during pregnancy. The most common are low birthweight, mental deficiency, deformities of the head and face, limbs, and central nervous system; the neonatal mortality rate is high. Less obvious effects may occur in children of moderate drinkers.

How common is it? About 1 in 750 live births.

Who is susceptible? Babies of women who drink heavily. (It is estimated that 30 to 40 percent of women who drink heavily during pregnancy have babies with FAS.)

What causes it? Ingestion of alcohol—usually five or six drinks of beer, wine, or distilled spirits a day—during pregnancy.

Related problems. Developmental problems.

Treatment. Therapy for individual disabilities.

Prognosis. Depends on extent of the problem.

HEART DEFECT—SEE CONGENITAL HEART DEFECT

HYDROCEPHALUS

What is it? Absorption of the fluid that normally bathes the brain is blocked, and the fluid collects. The pressure spreads apart the loosely connected plates of the skull, causing the head to become enlarged. This enlargement is often the first clue to the problem. Often occurs along with spina bifida, or following surgery to close an open spine. The scalp skin may be shiny and thin, neck muscles may be underdeveloped, eyes may look strange, cry may be high pitched, and baby may suffer from irritability, lack of appetite, and vomiting.

How common is it? Relatively rare.

Who is susceptible? Not clear, though infants with spina bifida are at increased risk because of associated malformations of the brain stem.

What causes it? At birth, a defect in the membrane that is supposed to absorb cerebrospinal fluid; later, injury or a tumor.

Related problems. Retardation if fluid is not drained away regularly; complications with shunts, including infection and shunt malfunctions.

Treatment. Under anesthesia, a special tube is inserted through a hole drilled in the skull into the brain to drain the excess fluid, usually into the abdominal cavity. The head gradually returns to normal size, but frequent checkups are necessary to be sure all is going well and the tube has not become blocked. Doctors are now trying to develop a treatment that doesn’t require surgery.

Prognosis. Good if treatment is begun early enough; this can usually prevent retardation and the child can probably lead a normal life. Poor if the problem is well advanced by the time the baby is born. In that case, it can cause various disabilities affecting, among other things, intelligence, language skills, movement, hand-eye coordination, and eyesight. It can also be fatal in untreated cases. Treatment before birth is not widely done, and it remains uncertain whether there is any benefit to treating the condition in utero.

MALFORMATION

What is it? An organ or part of the body appears abnormal. Sometimes several organs or body parts are affected, and grouped together, they form a syndrome that indicates a particular condition (such as Down syndrome). Sometimes there is just one isolated malformation—such as a stunted limb.

How common is it? Probably fewer than 1 in 100 newborns is born with a noticeable malformation, usually a mild one.

Who is susceptible? Those with similar malformations in other family members; those whose parents, most often mothers, are exposed to certain dangerous environmental hazards before or after conception.

What causes it? Abnormal differentiation or organization during the development of the embryo, because of either a genetic or chromosomal abnormality or an environmental factor (such as high-dose radiation or infection).

Related problems. Depends on the malformation(s).

Treatment. Varies with the defect.

Prognosis. Depends on the malformation. (See individual conditions, such as spina bifida, Down syndrome, and so on)

OPEN SPINE—SEE SPINA BIFIDA

PYLORIC STENOSIS

What is it? A probably congenital condition in which thickening or overgrowth of the muscle at the exit of the stomach causes a blockage, leading to increasingly more severe and more forceful projectile vomiting (spewing a foot or more) usually starting at two or three weeks of age, and accompanied by constipation. The thickening can usually be felt as a lump by the doctor; spasms of the muscle are often visible.

How common is it? Affects 1 boy in 200; 1 girl in 1,000.

Who is susceptible? Males more often than females; sometimes tends to run in families.

What causes it? It isn’t known what triggers development.

Related problems. Dehydration.

Treatment. Surgery, after baby’s fluid levels have been normalized, is safe and almost always completely effective.

Prognosis. Excellent.

RH DISEASE

What is it? A condition in which a child inherits a blood type from the father that is incompatible with the mother’s. If the mother has antibodies to the baby’s blood (from a previous pregnancy, an abortion, miscarriage, or blood transfusion), these antibodies can attack the baby’s red blood cells.

WHEN DIAGNOSIS MAKES ALL THE DIFFERENCE

The availability of newborn screening tests has made early diagnosis of many metabolic disorders possible. The good news: With early diagnosis can come early treatment and, for many babies who might otherwise have died within a few months of birth, the chance to live a completely normal life. Conditions that can be diagnosed and treated include:

Congenital hypothyroidism, which results from an inadequate supply of thyroid hormone and affects 1 baby in 4,000. Oral doses of thyroid medication prevent the stunted growth and mental retardation associated with hypothyroidism.

Congenital adrenal hyperplasia, a condition in which hormone deficiency compromises genital development and kidney function, affects 1 in 5,000 babies, and can be treated with hormone replacement.

Medium chain acyl-coA dehydrogenase deficiency (MCAD) results when the enzyme needed to convert food fat to energy is missing. It affects 1 in 15,000 babies and can lead to severe metabolic problems with otherwise simple illnesses. Since the condition shows up only during prolonged fasting (as might occur if appetite is lost to a virus or other illness), the treatment involves feeding on a regular schedule.

Galactosemia, in which 1 in 50,000 affected babies can’t convert galactose, a milk sugar, into glucose (eventually causing mental retardation and liver disease), can be treated with the elimination of dairy products.

Biotinidase deficiency, which occurs in 1 in 70,000 babies, results from the deficiency of biotinidase, an enzyme that recycles biotin (one of the B vitamins). Without treatment (supplementation with biotin), it can cause frequent infections, poor muscle control, seizures, hearing loss, and mental retardation.

Maple syrup urine disease (MSUD), which affects 1 in 250,000 babies, occurs when the body is unable to use some components of food protein, and can result in poor feeding, lethargy, and, eventually, coma. Given its name because an affected baby’s urine smells like maple syrup, MSUD can be treated with a special diet.

Homocystinuria affects 1 in 250,000 infants and is due to a lack of enzymes in the liver. Untreated, it can lead to skeletal abnormalities, abnormal blood clotting, mental retardation, and eye problems. A special diet, combined with dietary supplements, can prevent these symptoms.

Phenylketonuria (PKU), a condition in which the individual is unable to metabolize an amino acid (or “protein building block”) called phenylalanine, affects 1 in 12,000 infants. If left untreated, the buildup of phenylalanine in the bloodstream can interfere with brain development and cause severe retardation. A diet low in phenylalanine (low in high-protein foods such as breast milk, cow’s milk, or regular cow’s milk formula and meat), begun immediately and continued indefinitely, will allow a child with PKU to live a normal life.

How common is it? Much less common since the development of preventive techniques; still, about 7,000 infants a year are affected in the United States.

Who is susceptible? A baby who inherits Rh-positive blood from his or her father and has a mother with Rh-negative blood.

What causes it? Antibodies in mother’s blood attack baby’s blood cells, recognizing them as foreign.

Related problems. Severe anemia and jaundice, leading to possible brain damage, or death before or shortly after birth.

Treatment. Often a complete blood transfusion of the baby’s blood (an “exchange transfusion”). Some babies may not need a transfusion immediately but do require one at four to six weeks because of severe anemia. Prevention, with the injection of a vaccine called Rh immune globulin for Rh-negative mothers within seventy-two hours of the birth (or miscarriage or abortion) of a baby or fetus that is Rh-positive is the best way to prevent the problem in future pregnancies. A dose of the vaccine may also be given about midway during pregnancy.

Prognosis. Usually good, with treatment.

SICKLE-CELL ANEMIA

What is it? An anemia in which red blood cells (usually round) are abnormal (sickle shaped) and do a poor job of carrying oxygen to body cells, often getting stuck in and blocking blood vessels. Symptoms (such as fatigue, shortness of breath, joint swelling, especially in fingers and toes, and severe bone pain) don’t usually appear until six months of age, but testing should diagnose the condition immediately after birth.

How common is it? Affects 1 in 400 African American children; lower incidence in others.

Who is susceptible? Primarily blacks of African descent, but also whites of Mediterranean/Middle Eastern heritage. Risk is 1 in 4 if both parents are carriers, 4 in 4 if both have the disease.

What causes it? Autosomal recessive inheritance: Both parents must pass on recessive genes for child to be affected. Periodic crises can be triggered by infection, stress, dehydration, and inadequate oxygen.

Related problems. Poor growth, delayed puberty, narrow body, curved spine and barrel chest; infection, particularly pneumococcal. It can be fatal if untreated.

Treatment. Penicillin daily beginning at two months, at least through age five. Also symptomatic relief: pain relievers, blood transfusions, oxygen, fluids. Full series of immunizations, including pneumococcal vaccine. Parent education and genetic counseling are also important.

Prognosis. Fair. Still, most live past young adulthood, and some reach middle age and beyond. Treatment greatly improves prognosis. Promising research is being done into new and better treatments.

SPINA BIFIDA (OPEN SPINE)

What is it? The bony spine, or backbone, that helps protect the spinal cord is normally open for the first few days of prenatal development but then closes. In spina bifida, the closing is incomplete. The resultant opening can be so slight that it causes no problems and is not noticed except through an X ray taken later for other reasons, though a small dimple or tufts of hair may be visible on the covering skin. Or it can be large enough that part of the covering of the spinal cord protrudes through, covered by a purplish red cyst or lump (a meningocele), which can range in size from an inch or two in diameter to the size of a grapefruit. If this meningocele is low on the spinal column, it can cause weakness in the legs. In the most severe form of spina bifida, the spinal cord itself protrudes through the opening. It often has little or no skin protecting it, allowing spinal fluid to leak out. The area is often covered with sores, the legs are paralyzed, and bladder and bowel control become a problem later, though some children do attain this control.

How common is it? Affects 1 in 2,000 babies born in the United States, though it has been estimated that 1 in 4 may have hidden spina bifida. The more severe form of the condition is fortunately the least common. There has been a nearly 20 percent reduction in the number of babies born with neural tube defects such as spina bifida in recent years. This can be attributed to the use of folic acid supplements by mothers before conception and through the first two months of pregnancy, as well as the fortification of breads and cereals with folic acid.

Who is susceptible? Children of mothers who already have an affected child have a 1 in 40 risk; with two affected children in the family, the risk rises to 1 in 5. Cousins of affected children have a twofold increase in risk.

What causes it? Not known at present. Heredity is probably involved in some way along with adverse prenatal environment. Nutrition may be involved—specifically a low intake of folic acid.

Related problems. Infection when spine is visibly open. Also hydrocephalus in about 70 to 90 percent of cases (see page 645). Lower limb paralysis and numbness, impaired bladder and bowel control.

Treatment. None is needed for a slight defect. Cysts can be removed surgically and hydrocephalus can be shunted. But though surgery can remove the most severe cysts and repair the opening, covering it with muscle and skin, the paralysis in the legs can’t be cured. Physical therapy, and later leg braces and crutches or a wheelchair, will probably be needed. Casts may be applied to prevent or minimize deformity. Prior to surgery, it is important not to put pressure (even in the form of clothing) on the cyst. Team approach to treatment, with a range of specialists, is usually best. Spina bifida can often be detected through prenatal testing, such as blood tests, ultrasound, and amniocentesis. Prenatal surgery to repair spina bifida birth defects is in the experimental phase.

Prognosis. Depends on the severity of the condition. Most children with less severe conditions can have active and productive lives; most females will be able to bear children, but their pregnancies will be in the high-risk category.

TAY-SACHS DISEASE

What is it? Children with this lipid-storage disease, in which there is a congenital deficiency of an enzyme needed for breaking down fatty deposits in the brain and nerve cells, appear normal at birth. But about six months later, when the fatty deposits begin to clog cells, the nervous system stops working and children begin to regress—they stop smiling, crawling, and turning over, lose the ability to grasp, gradually become blind, paralyzed, and unaware of their surroundings. Most die by age three or four.

HOW DEFECTS ARE INHERITED

All the good and beautiful things a baby is are a result of the genes he or she inherited from both parents, as well as the environment in the uterus during the nine months of gestation. But the not-so-good things a baby is born with—a birth defect, for instance—are also a result of genes and/or environment. Usually the genes a parent passes on to a child are inherited from his or her own parents, but occasionally a gene changes (because of an environmental insult or some unknown factor) and this mutation is passed on.

There are several kinds of inherited disorders:

Polygenic disorders (such as clubfoot and cleft lip) are believed to be inherited through the interaction of a number of different genes in much the same way that eye color and height are determined.

Multifactorial disorders (such as some forms of diabetes) involve the interaction of different genes and environmental conditions (either prior to birth or after it).

Single-gene disorders can be passed on through either recessive or dominant inheritance. In recessive inheritance, two genes (one from each parent) must be passed on for the offspring to be affected. In dominant inheritance, just one gene is needed, and it is passed on by a parent who also has the disorder (by virtue of having the gene). Single-gene disorders can also be sex linked (hemophilia, for example). These disorders, carried in genes on the sex-determining chromosomes (females have two X chromosomes and males one X and one Y), are most often passed from carrier mother to affected son. The male child, having only one X chromosome, has no opposite gene to counteract the one carrying the defect and is affected with the disorder. A female child receiving the gene on an X chromosome from her mother has also received a normal X chromosome from her father, which makes her a carrier but usually leaves her unaffected by the disorder.

How common is it? Rare (fewer than 100 cases each year in the United States).

Who is susceptible? Mostly descendants of Central and Eastern European (Ashkenazi) Jews. Nearly 1 in 25 American Jews are carriers of the Tay-Sachs gene, and 1 in 3,600 Ashkenazi babies is affected.

What causes it? Autosomal recessive inheritance—one gene from each parent is necessary for child to be affected.

Related problems. Concern about future children; there is a 1 in 4 chance of an affected child with each pregnancy.

Treatment. None, though researchers are trying to find a way of replacing the missing enzyme. Those with Ashkenazi backgrounds should be tested for the gene before conception or during early pregnancy. If both parents have the gene, then amniocentesis can be performed to see if the fetus has inherited the disease.

Prognosis. Disease is invariably fatal.

THALASSEMIA

What is it? An inherited form of anemia in which there is a defect in the process necessary for the production of hemoglobin (the oxygen-carrying red blood cells). The most common form, thalassemia B, can range from the very serious form, called Cooley’s anemia, to thalassemia minima, which has no effect but shows up in blood or genetic testing. Even in serious cases, infants appear normal at birth, but gradually become listless, fussy, and pale, lose their appetites, and become very susceptible to infection. Growth and development are slow.

How common is it? One of the more common inherited diseases in the United States. About 2,500 people are hospitalized annually for treatment.

Who is susceptible? Most frequently, those of Greek or Italian descent; also those from Middle Eastern, southern Asian, and African backgrounds.

What causes it? Autosomal recessive inheritance: An affected gene must be inherited from each parent for the child to have the most serious form.

Related problems. Without treatment, the heart, spleen, and liver all become enlarged, and the risk of death from heart failure or infection multiplies. Eventually bones become brittle, distorting appearance.

Treatment. Frequent blood transfusions of young blood cells, and sometimes bone marrow transplants for children with the most severe form of the disease. Buildup of iron, which can lead to heart failure, can be treated with medication. Prenatal diagnosis is available to determine if a fetus is affected.

Prognosis. Excellent for those with minor forms of the disease; those with moderate disease also become normal adults, though puberty may be delayed. Of those with severe disease, more children are now living into their teens and twenties, though the threat of heart failure and infection are still great.

TRACHEOESOPHAGEAL FISTULA

What is it? A congenital condition in which the upper part of the esophagus (the tube through which foods move from throat to stomach) ends in a blind pouch and the lower part, instead of connecting to the upper, runs from the trachea (windpipe) to the stomach. Since this makes taking food by mouth impossible, vomiting, choking, and respiratory distress occur on feeding. Excessive drooling occurs since saliva can’t be swallowed. Food getting into lungs can cause pneumonia, and even death.¹

How common is it? Affects 1 in 4,000 live births.

Who is susceptible? Prematurity has been associated with this condition. Often, the first sign is excessive amniotic fluid during pregnancy (because the fluid can’t be swallowed by the baby in utero, as it usually is).

What causes it? A defect in development, possibly due to hereditary or environmental causes.

Related problems. A small percentage of babies also have associated malformations, such as heart, spine, kidney, and limb abnormalities.

Treatment. Immediate surgery can usually correct condition.

Prognosis. If no other abnormalities exist and surgery corrects the problem, outlook is very good—though there are often long-term problems with reflux.

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1. There are several other, much less common, deformities of the trachea and esophagus.