No one is immune to birth defects, yet not everyone is equally susceptible. Birth defects are not merely a medical problem. They have profound effects on the social and psychological well being of their family and friends. In the normal course of fetal development, cells migrate to their appropriate destination so that organs and limbs form where they should. Usually, the genes perform flawlessly, but mistakes can and do occur. Some of the most common birth defects results from the interaction between one or two abnormal genes out of 100,000 that make up who we are.
This is caused by the genes arents pass on or effected by drugs and alcohol upon the fetus of a new born child. Down’s syndrome, the most common genetic disease formerly known as mongolism, “occurs one in every six hundred births throughout the world” ( Storm 102). It is caused by chromosomal error, where there is an extra chromosome 21. Instead of have two chromosomes as does a normal individual, there are three. These children’s features include up slanted eyelids, depressed foreheads, hearing loss, dental problems, poor speech development, heart disease and intestinal problems where surgery is required.
Parents feel very helpless and uilty in many of these and similar situations, feeling as if they are abnormal. However most can learn to walk, talk, dress themselves and eat. Special work programs are available that can help the child reach their education level. Also these work programs help takes off the many stresses facing parents. They no longer have to go it alone. Tay Sachs disease is another selective genetic disorder that destroyed nerve cells. This causes mental retardation, loss of muscle control and death. Children who inherit an abnormal gene from both parents will inherit the decease.
The carrier parents have one normal gene and one defective gene. Carriers of Tay-Sachs disease have no symptoms. ” If two carriers have children, each child has twenty-five percent chance of inheriting the defective gene (both parents)” (Strom 174). These children are unable to produce an enzyme that breaks down fats in the brain and nerve cells. The cells become clogged with fat and prevent the cells from functioning normally. Within three to four years their bodies dies. Sandra vividly remembers how happy she was to have a baby brother and what a beautiful, healthy little boy he was at first.
Then, at about six months of age, her brother began to change. He stopped smiling, crawling and urning over, and he lost his ability to grasp objects or to reach out. Over the next few years, he gradually became paralyzed and blind. Finally, he became so affected that he was completely unaware of anything or anyone around him. Then, just before his fourth birthday, he died. (Gravelle 56). ” About one in three hundred people carries this disease, but carriers are ten times more common among mid and eastern European Jews” (Gravelle 56).
This devastating disease has a tremendous emotional effect on the parents. From day one they watch their beautiful healthy child grow up and live a normal life. Their child could live a normal life for three to four years without any symptoms. And then with no warning their normal way of life changes dramatically as they watch their child suffer a slow traumatizing death. Along with watching their child, they also have to face their new life. They now have to sent most of their time and money on the child, but how ?
If they both take off work who will pay for all the doctor bills. If one takes off work who should it be? Physical breakdowns are a major component facing parents as the deal with all this added pressure. Their life will consist living around hospitals and ive in nurses which many might get to help cope with the child. Their sex life changes. Most of the time parents feel dirty or diseased them selves causing intimacy to stop and from this, parents soon grow farther apart. Their are no winners in this battle, especially with no cure available.
Sickle cell anemia, a genetic disorder in which malformed red blood cells interfere with the supply of oxygen to parts of the body. Inadequate oxygen levels allow the cells to sickle and become a cresent-like shape. As a result, the cells can no longer flow freely and thus, begin to clog blood vessels. Inflammation of tissues, pain in limbs, abdomen, lower back and head occurs. The main organs severely affected are lungs, bones, spleen, kidneys, heart and brain. It is inherited and acquired only at birth. At the present time, there is no treatment that can eliminate the condition.
Lorraine’s first pregnancy seemed effortless. because she was only twenty-five and therefore not at high risk. besides, there was no history of congenital defects in either Lorraine’s or her husband’s family. Thus when their son Jeremy was born with a server form of spina bifida, the couple was stunned. Gravelle 54) Spina bifida is a defect of the spinal column in which the infant’s spine does not develop completely, enclosing the cord. The spinal cord may pole through the spine, forming a cyst or lump on the child’s back. In Jermey’s case, the lower part of his spinal cord was affected, leaving his legs paralyzed. In a severe case of spina bifida, there is an excess fluid of water surrounding the brain which can lead to brain damage. ”
In spite of the fact that approximately 16,500 infants are born with spina bifida in the United States each year, researchers still do not know exactly what causes the condition” (Gravelle 55). Spina bifida is hereditary and some other factors may be involved, such as drugs or alcohol and even the environment. True genetic disease are distinguished from diseases in which genetic factors play a part in the causation of the disorder, but are not totally responsible for the disease” Strom 117). Mutations causing birth defects are not the result of a single gene but, have some genetic components in their causation. Therefore certain birth defects are prone to occur repeatedly in families but, not to be considered purely genetic such as spina bifida. Other causes of birth disorders are causes from drug and alcohol abuse hile pregnant.
When a woman uses drugs during pregnancy, she is not only damaging her health, but also that of her unborn child. The most harmful drugs are those classified as narcotics ( cocaine ,heroin ect). Other harmful substance include alcohol, tobacco and caffeine. ” A women’s inter- uterine environment is designed to protect the fetus from external injury and to assure proper nutrition. Fetal homeostasis is however heavily dependent on the maternal habitat and can easily be subjected to the harmful effects of drug and alcohol misuse (Gardner 1).
In marked contrast, alcohol purchase and onsumption carries few restrictions and in terms of damage to the health of the developing fetus, ” it is by far the most harmful drug available ( Gardner 1). Conflicting evidence exists as to the link between alcohol consumption and fetal damage. Fetal Alcohol Syndrome describes a set of abnormalities occurring in babies where alcohol consumption has taken place. The cause of FAS, appears “to be related to the effects of alcohol on the fetal central nervous system during the early stages of development.
FAS has been recognised as the third most common cause of mental retardation, affecting 1 in 750 live births” ( Gardner 6). The major characteristics of FAS fall into four categories: a) Growth retardation: The average birth weight of 71b is reduced to 41b. b) Facial features: the eyes may be small and the mid face poorly formed with a short upturned noise. flattened nasal bridge and prominent nostrils. c) neuro-developmental abnormalities: The average IQ of a person ranges greatly. However, the mean average is about 70 and follow up studies indicate that no great improvement is likely. ) Congenital abnormalities: Health defects occur in up to 50 percent of cases and skeletal defects are common, predominantly fusion of the bones of the ingers, toes and arms. ( Gardner 6) However fetal harm cannot be contributed to alcohol alone when it is involved. ” The British studies cited earlier clearly indicates the need to consider other features such as nutritional level, stress, smoking and health all may be factors” (Gardner 7). Precise evidence also have related drugs to fetal neonate harm. Although the fetus is protected by the placenta, drugs can easily pass through to the fetus with little method of release.
Many risks of using drugs while pregnant are ” pre-natal mortality, low birth weight babies due to premature birth or growth retardation, average of 2. to 3. 2 percent of these births show signs of organ malfunction or growth retardation” ( Gardner 4). The increased figures with regard to both drugs and alcohol use combined with rising concern about the effects of substance abuse during pregnancy, highlight the need to provide a range of services and care both pre and post natal to support the family and the child.
It is possible during pregnancy to implement a medically- supervised withdrawal from most drugs. It is vital that care is given to aid slow withdrawal because, ” although the mother may not be physically dependent, her fetus may be. If a women decides not to withdrawal from drugs, ( should not be an option) a programme of methadone maintenance, which is ideal for high level long term users can be suggested to reduce fetal distress” ( Gardner 8). For most adults, whether professional or lay, the sight of a tiny baby, Sweating and twitching, vomiting and screaming inconsolably, arose powerful emotional response of anger and pity. ” ( Gardner 1) It is understandable that parents have a hard time coping with the emotions of seeing the child deformed but, families must learn to accept , adjust to and cope with the sorrows and frustrations engendered by the birth of heir handicapped children.
Parental acceptance means many different things. Parents have many different ways of excepting their child and many ways of hiding their true feeling of unacceptance. he two main ways of seeing how and if a parents expects their child is through two parts, the clinical view and the interactionist view. The clinical view is the overcoming of the internal quilt reaction. Many parents show sighs of physical illness, nervous conditions or display defence mechanisms such as denial, not excepting their child is handicapped. Solnit and Stark (1961) suggested ” that parents must mourn the loss of their anticipated healthy hild before they can love their defective child” ( Darling 50).
They also suggest that the completion of morning in such a case involves three stages of parental adjustment: 1) Disintegration: At this stage, parents are shocked, disorganized, and completely unable to face reality. 2) Adjustment: This phase involves chronic sorrow and partial acceptance. The defect is recognized, but prognosis may be denied. 3) Reintegration: Parents maturely acknowledge their child’s limitations. Several studies have attempted to measure differences in adjustment between parents of defective children and parents of normal children.
And it was found that ” Mothers of retarded children were more depressed and had a lower sense of maternal competence. They also enjoy their children less than control group mothers . Similarly, farther of retarded children experience greater stress that farther of normal children” ( Darling 53). Another factor is the age of the parents. Some physicians felt that older, more experienced parents would be able to adjust better. However , some also noted that older parents might be less accepting if they waited a long time for the child and felt that they might not be able to have another.
