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.
1. There are several other, much less common, deformities of the trachea and esophagus.
CHAPTER 22 The Adopted Baby
Whether you’re bringing home a newborn from the local hospital or a nine-month-old from another continent, becoming an adoptive parent is every bit as joyous, life-changing, and nerve-racking as becoming a birth parent. Although chances are you’ve been waiting for this moment even longer than birth parents usually do, you may feel surprisingly unprepared now that it’s finally upon you. Along with the excitement and elation you’ll feel when you first hold your baby in your arms, you’ll
probably feel a fair amount of trepidation and uncertainty. Just like birth parents do.
As adopting parents, this chapter is specifically for you. But so is most of the rest of this book.
Your baby is like other babies—and you are like other fathers and other mothers.
What You May Be Concerned About
GETTING READY
“My friends who are pregnant are involved in all kinds of preparations—childbirth classes, looking over hospitals, choosing pediatricians. But I don’t know where to start in preparing for our daughter’s arrival.”
Instead of surprising parents (of all species) with their babies without benefit of notice, Mother
Nature wisely designed “gestation.” This waiting period before birth (or hatching) was meant to give parents a chance to prepare for the arrival of their offspring. A chance for the mother bird to feather her nest, the expectant lioness to prepare her lair, and nowadays anyway, for the human mother and father to decorate a nursery, take classes, toss around names, make key decisions about breastfeeding, child care, and pediatricians, and generally prepare themselves emotionally, intellectually, and
physically for becoming a family.
For the couple about to adopt a baby, the waiting period is not usually a predictable and manageable nine months, as it is for other expectant parents. For some, usually those who go the agency route, the entire process may take years, but the big day itself may arrive unexpectedly, not leaving enough time for reality to set in, much less for preparations to be made—not unlike being told you’re pregnant one day and delivering a baby the next. For others, usually those who adopt privately, definite arrangements may be made to adopt a particular baby far in advance of the infant’s due date, giving the adoptive parents-to-be the opportunity to go through prebaby preparations that are not dissimilar in many ways to those of biological expectant parents. But no matter how much or how little time you have between learning you are going to become a parent and the actual arrival of that bundle of joy, there are some steps you can take to make the transition smoother:
Shop ahead. Read chapter 2 of this book. Most of the preparations for the arrival of a baby are the same whether you’re adopting or birthing. If you are uncertain as to the date, scout around for the crib, carriage, layette, and so on in advance. Have everything picked out (brand names, style numbers, sizes) and listed along with the store names and telephone numbers, so that you can call for delivery
the moment you hear from the adoption agency or attorney. (Check in advance with the stores to be sure that your choices will be in stock.) If you are going the private adoption route and have an
approximate arrival date, many stores will allow you to put your order in and then will hold delivery until you call. Such advance purchasing is a lot better than trying to do the shopping after the baby arrives, when you’re busy trying to get acquainted and adjusted.
Find out how adoptive parents feel. Talk to other couples you know who have adopted infants (or find adoptive parents on-line) about their concerns, their problems, and their solutions. Find a support group for adoptive parents and attend a few sessions—your clergyman, pediatrician, attorney, or adoption agency may be able to direct you in locating individuals or groups. Again, you may be able to find some of this support—as well as plenty of other resources—on the Internet. Or look to books for information and strategies.
Find out how newborns feel. Read up on childbirth so that you have some idea of what your baby has gone through when he or she finally does arrive. You’ll learn that after a long, hard struggle to be born, babies may be tired—something that birth parents understand because they are tired, too.
Adoptive parents, usually exhilarated and excited rather than exhausted by their baby’s arrival, might be tempted to overstimulate the newborn rather than allow her needed rest. If you’re adopting an older baby, read up on the months that are already behind her, as well as those that are just ahead, keeping in mind that your baby may have some catching up to do developmentally if she has spent her first months in an orphanage or in an unnurturing home environment.
Learn the tricks of the trade. Take a parenting class that gives instruction in basics such as bathing, diapering, feeding, and carrying baby. Or plan on hiring a baby nurse or doula who is as good at teaching baby care as she is at practicing it, for a day or two, or longer if you prefer, to help out with the basics (see page 16). But be sure whoever you hire will help rather than intimidate.
Take a good look at babies. Visit friends or acquaintances with young babies, or stop in at a hospital nursery at visiting time, so that a newborn won’t seem so unfamiliar to you. Read about newborn characteristics in chapter 4. If you’re adopting an older baby, pay visits to those who are about the same age as your baby.
Pick your pediatrician. It’s as important for you to have your pediatrician selected in advance as it is for the expectant couple (see page 29). And don’t wait until you have your babe-in-arms to pay a visit to the doctor. A pre-baby consultation will give you a chance to ask questions and voice any concerns you may have about adopting a baby or becoming a parent. You’ll need someone who will be able to check your baby out on the very first day he or she is with you. Because the newborn’s health is a special concern, you will want the pediatrician to be available almost at a moment’s notice to consult with doctors when the baby is born and to give you advice on the prognosis if there is a problem. If your baby will be coming from overseas, there may be other health issues to be aware of. You may want to choose or consult with a pediatrician who has had some experience with caring for foreign adoptive babies (see box above for more).