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Coping With Birth Defects

The root of the problem

Most parents have a niggling fear that the nine months of pregnancy is comparable to walking through a minefield. Things can go wrong at any time. They only breathe a sigh of relief when they've counted all ten toes and fingers of their newborn. It's no wonder they feel that way because it can be the most devastating thing if your baby is born with a birth defect. 

Birth defects can be caused by genetics or by environmental factors or a combination of both. There are three categories of genetic disorders: chromosomal disorders, multi-factorial inheritance and single-gene disorders. Chromosomal disorders are caused by an abnormality in the number or structure of the chromosomes in each cell. Chromosomal abnormalities are rarely inherited. The most common chromosomal disorder is Down's Syndrome that is the result of each cell having 47 instead of 46 chromosomes. Multi-factorial inheritance is the result of the interaction between faulty genes and a negative environment. For instance, spina bifida and anencephaly are disorders that fall into this category. Single-gene disorders are caused by a single defective gene and can be passed on from generation to generation in three possible ways: dominant inheritance, recessive inheritance and X-linked inheritance. 

In the case of dominant inheritance, a single faulty gene from either parent can result in the child having a birth defect. The faulty gene dominates the normal gene counterpart inherited from the other parent and causes the child to inherit the disorder. Each child has a 50% chance of inheriting the defect, as the affected parent will either pass on the normal gene or the defective one. Examples of such disorders are hypercholesterolemia (high blood cholesterol) and Huntington's disease (progressive nervous system degeneration). 

In the case of recessive inheritance, each parent will have to pass on one defective gene for the child to inherit the disorder. Thus, if a child inherits a defective gene from one parent and a normal gene from the other, he will become a carrier. i.e. He will not be affected, as the normal gene will dominate its defective counterpart, but he can pass the defect on to his offspring. If both parents are carriers, each child has a 25% chance of inheriting the disorder. If only one parent is a carrier, their offspring cannot inherit the defect, but each child will have a 50% chance of becoming a carrier. Examples of such disorders are Tay-Sachs disease (fatal brain damage) and sickle-cell anaemia. 

X-linked inheritance refers to disorders that are inherited as a result of the mother carrying an abnormal gene on one her X chromosomes. The mother is usually not affected. Each son has a 50% chance of inheriting the disorder, while each daughter has a 50% chance of being a carrier. Disorders like hemophilia and colour blindness are X-linked disorders. 

The emotional fallout

Imagine the feelings of a parent whose son is born with a congenital heart defect or a mother whose daughter has Foetal Alcohol Syndrome as a result of her heavy drinking during pregnancy. Parents that have a baby with a birth defect go through myriad emotions. Most often the cause of the baby's birth defect is out of the parents control. However, many parents feel guilty at the thought that may be they were the cause of this terrible happening. But whatever the cause of the problem, parents who crumble under the weight of guilty feelings are doing more harm than good. They need to get a hold of themselves and take positive steps to deal with a difficult situation instead of wasting time and energy mentally whipping themselves. 

Parents of such babies may also find themselves consumed with anger at the terrible blow that fate has dealt them. They look at all the healthy babies in the world around them and they think, "Why me?" There is no answer and this just leads to them feeling further frustration and rage. This anger is often directed towards the doctor that delivered the baby, the spouse, and the baby's healthy siblings. It's an unreasonable, irrational anger, but normal. However, like guilt, it is not a constructive emotion. Parents have to overcome these feelings of rage and try to concentrate on taking care of the baby and helping the rest of the family deal with the situation.

Parents who have dreamt of the arrival of a cuddly bundle of joy at the end of nine months are understandably crushed and disappointed when their baby is anything less than perfect. They may even doubt their ability to love the child like they would a normal baby. This is not unusual or abnormal. Most women don't automatically overflow with the milk of maternal kindness as soon as they become mothers. It takes them some time to become accustomed to the baby and for their feelings to change from ambivalence to love. For parents of handicapped babies, this process may be slower but it will happen. Parents will have to give up the ideal of the picture perfect baby they have carried in their hearts and minds for nine months and open their hearts and the minds to the new baby. All babies are endearing. Parents should focus on discovering the endearing qualities of their new baby and spend time hugging, kissing, stroking and cuddling the baby. Parents who find that love for their baby does not grow with the passage of time may need to consider professional counselling. 

Sometimes babies are born with birth disorders that make their chances of survival slim to nonexistent. In these circumstances, parents sometimes stay aloof from the baby, afraid to become attached to someone they are bound to lose. However, studies have shown that " 'tis better to have loved and lost, than never to have loved at all". Parents who have been unstinting in their love for their dying child have found it easier to cope with the loss of the child than those who have tried to avoid the anguish by staying aloof. This is because only parents who have given themselves the freedom to love can truly mourn. Parents who have tried to protect themselves from the pain of losing the child will find themselves in a kind of limbo where they will never be able to fully resolve their feelings over the terrible loss. 

Facing the world

Besides trying to deal with the pain of having a child with a birth defect, parents often wonder how to face the world at large with their less-than-perfect baby. Their first reaction would probably be to shy away from friends and relatives, too upset to go into explanations and endure endless commiseration. But at some point they will have to come out of their shells. They should also realize that the people around them are probably as unsure about what to say and do as they are. Most people would like to be kind and supportive, but probably don't know how. At the same time, there is always a minority that will be intentionally or unintentionally cruel and unkind. Once they are up to it, parents should make people comfortable by acknowledging their unease as being understandable and natural. Their attitude should be that while the baby may not be what they expected, it is still theirs and they love it. In the case of close family and friends, they will need to be educated about the baby's problem and his or her special needs. Parents should encourage them to play with the baby, hold him, feed him and bathe him so that they will become more comfortable around the baby. 

The next time round

Parents often worry that their next baby will also have the same or a different birth defect. These fears are natural, but often groundless. However, in order to set their minds at rest, parents should investigate the causes of their baby's birth defect. If the disorder is genetic, parents could visit a genetic counsellor who would tell them the odds of the disorder affecting their next child. It would also be a good idea to closely monitor the next pregnancy. Sometimes birth defects show up early on in the pregnancy giving parents the option to terminate the pregnancy. If the defect can be linked to environmental factors like drugs, exposure to radiation, or maternal illness like German measles, it is unlikely that the disorder will occur again as these circumstances can be avoided or controlled. In cases where the disorder could be the result of the interplay of various factors, it is still advisable to consult a doctor or genetic counsellor. 

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