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    Birth Defects Essay

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    Birth DefectsNo one is immune to birth defects, yet not everyone is equally susceptible. Birth defects are not merely a medical problem. They have profound effects onthe social and psychological well being of their family and friends.

    In the normal course of fetal development, cells migrate to theirappropriate destination so that organs and limbs form where they should. Usually,the genes perform flawlessly, but mistakes can and do occur. Some of the mostcommon birth defects results from the interaction between one or two abnormalgenes out of 100,000 that make up who we are. This is caused by the genesparents pass on or effected by drugs and alcohol upon the fetus of a new bornchild. Down’s syndrome, the most common genetic disease formerly known asmongolism, “occurs one in every six hundred births throughout the world” ( Storm102).

    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 andintestinal problems where surgery is required. Parents feel very helpless andguilty 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 workprograms are available that can help the child reach their education level. Alsothese work programs help takes off the many stresses facing parents. They nolonger have to go it alone. Tay Sachs disease is another selective genetic disorder that destroyednerve 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 ofTay-Sachs disease have no symptoms. ” If two carriers have children, each childhas twenty-five percent chance of inheriting the defective gene (both parents)”(Strom 174). These children are unable to produce an enzyme that breaks downfats in the brain and nerve cells.

    The cells become clogged with fat and preventthe cells from functioning normally. Within three to four years their bodiesdies. Sandra vividly remembers how happy she was to have a baby brotherand what a beautiful, healthy little boy he was at first. Then, at about sixmonths of age,her brother began to change. He stopped smiling, crawling andturning over,and he lost his ability to grasp objects or to reach out.

    Over thenext few years, hegradually became paralyzed andblind. Finally, he became so affected that he wascompletely unaware of anything or anyone around him. Then, just before hisfourth birthday, he died. (Gravelle 56). ” About one in three hundred people carries this disease, but carriers are tentimes more common among mid and eastern European Jews” (Gravelle 56). Thisdevastating diseasehas a tremendous emotional effect on the parents.

    Fromday 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 anysymptoms. And then with no warning their normal way of life changesdramatically as they watch their child suffer a slow traumatizing death. Alongwith watching their child, they also have to face their new life.

    They now haveto sent most of their time and money on the child, but how ? If they both takeoff work who will pay for all the doctor bills. If one takes off work who shouldit be? Physical breakdowns are a major component facing parents as the deal withall this added pressure. Their life will consist living around hospitalsandlive in nurses which many might get to help cope with the child. Their sex lifechanges. Most of the time parents feel dirty or diseased them selves causingintimacy to stop and from this, parents soon grow farther apart. Their are nowinners in this battle, especially with no cure available.

    Sickle cell anemia, a genetic disorder in which malformed red blood cellsinterfere with the supply of oxygen to parts of the body. Inadequate oxygenlevels 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. Themain 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 notreatment that can eliminate the condition. Lorraine’s first pregnancy seemed effortless. because she was onlytwenty-fiveand therefore not at high risk. besides, there was no history ofcongenitaldefects in either Lorraine’s or her husband’s family.

    Thus whentheir sonJeremy was born with a serverform of spina bifida, the couple was stunned. ( Gravelle 54)Spinabifida is a defect of the spinal column in which the infant’s spine does notdevelop completely, enclosing the cord. The spinal cord may pole through thespine, forming a cyst or lump on the child’s back. ” In Jermey’s case, the lowerpart of his spinal cord was affected, leaving his legs paralyzed.

    In a severecase of spina bifida, there is an excess fluid of water surrounding the brainwhich can lead to brain damage. ” In spite of the fact that approximately16,500 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 factorsmay be involved, such asdrugs or alcohol and even the environment. ” True genetic disease are distinguished from diseases in which geneticfactors play a part in the causation of the disorder, but are not totallyresponsible for the disease” Strom 117). Mutations causing birth defects are notthe 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 abusewhile pregnant. When a woman uses drugs during pregnancy, she is not onlydamaging her health, but also that of her unborn child. The most harmful drugsare those classified as narcotics ( cocaine ,heroin ect). Other harmfulsubstance include alcohol, tobacco and caffeine. ” A women’s inter- uterineenvironment is designed to protect the fetus from external injury and to assureproper nutrition. Fetal homeostasis is however heavily dependent on thematernal habitat and can easily be subjected to the harmful effects of drug andalcohol misuse (Gardner 1).

    In marked contrast, alcohol purchase andconsumption carries few restrictions and in terms of damage to the health ofthe developing fetus, ” it is by far the most harmful drug available ( Gardner1). Conflicting evidence exists as to the link between alcohol consumption andfetal damage. Fetal Alcohol Syndrome describes a set of abnormalities occurringin 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 systemduring the early stages of development. FAS has been recognised as the thirdmost 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 formedwith a short upturned noise. flattened nasal bridge and prominent nostrils. c) neuro-developmental abnormalities: The average IQ of a person rangesgreatly. However, the mean average is about 70 and follow up studies indicatethat no great improvement is likely. d) Congenital abnormalities: Health defects occur in up to 50 percent ofcases and skeletal defects are common, predominantly fusion of the bones of thefingers, toes and arms.

    ( Gardner 6) However fetal harm cannot becontributed to alcohol alone when it is involved. ” The British studies citedearlier clearly indicates the need to consider other features such asnutritional level, stress, smoking and health all may be factors” (Gardner 7). Precise evidence also have related drugs to fetal neonate harm. Althoughthe fetus is protected by the placenta, drugs can easily pass through to thefetus with little method of release. Many risks of using drugs while pregnantare ” pre-natal mortality, low birth weight babies due to premature birth orgrowth retardation, average of 2. 7 to 3.

    2 percent of these births show signs oforgan malfunction or growth retardation” ( Gardner 4). The increased figureswith regard to both drugs and alcohol use combined with rising concern about theeffects of substance abuse during pregnancy, highlight the need to provide arange of services and care both pre and post natal to support the family and thechild. It is possible during pregnancy to implement a medically- supervisedwithdrawal from most drugs. It is vital that care is given to aid slowwithdrawal because, ” although the mother may not be physically dependent, herfetus may be.

    If a women decides not to withdrawal from drugs, ( should not bean option) a programme of methadone maintenance, which is ideal for high levellong term users can be suggested to reduce fetal distress” ( Gardner 8). ” Formost adults, whether professional or lay, the sight of a tiny baby, Sweating andtwitching, vomiting and screaming inconsolably, arose powerful emotionalresponse of anger and pity. ” ( Gardner 1)It is understandable that parents have a hard time coping with theemotions of seeing the child deformed but, families must learn to accept ,adjust to and cope with the sorrows and frustrations engendered by the birth oftheir handicapped children. Parental acceptance means many different things. Parents have many different ways of excepting their child and many ways ofhiding their true feeling of unacceptance.

    the two main ways of seeing how andif a parents expects their child is through two parts, the clinical view and theinteractionist view. The clinical view is the overcoming of the internal quilt reaction. Many parentsshow sighs of physical illness, nervous conditions or display defence mechanismssuch as denial, not excepting their child is handicapped. Solnit and Stark(1961) suggested ” that parents must mourn the loss of their anticipated healthychild before they can love their defective child” ( Darling 50).

    They alsosuggest that the completion of morning in such a case involves three stages ofparental adjustment:1) Disintegration: At this stage, parents are shocked, disorganized, andcompletely 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 betweenparents of defective children and parents of normal children. And it was foundthat ” Mothers of retarded children were more depressed and had a lower sense ofmaternal competence. They also enjoy their children less than control groupmothers . Similarly, farther of retarded children experience greater stress thatfarther of normal children” ( Darling 53). Another factor is the age of theparents. Some physicians felt that older, more experienced parents would be ableto adjust better.

    However , some also noted that older parents might be lessaccepting if they waited a long time for the child and felt that they might notbe able to have another. I saw her for the first time when she was 10 days old. . .

    I think Iwas themost petrified I’d ever been in my life, turning the corner andwondering what I would see. . . She was much more deformed than I had been told. At the time I thought,’ Oh, my god, Whathave I done?’ ( the mother of aspina bifida child). (Gardner 20)The Interactionist view consists of attitude.

    ” Attitudes, such asacceptance or rejection of handicapped children, are socially determined” (Darling 56). Rejection is learned through socialization in a stigmatizingsociety. From a very early age, we are exposed to negative attitudes towardsthose who deviate from society’s norms of physical and mental development. So aperson growing up in a hutterite community, for example, might learn to be moretolerant of the deviant than a child exposed only to the culture of themajority. ” Because attitudes are acquired, they are subject to change. Socialization never ends; we constantly grow and mature.

    Thus negative attitudestowards the handicapped might well change in the course of caring for ahandicapped child”(Darling 61). The families who manage best were not those in the upper classes. Theseparents were ambitious for their children and never overcame their frustration and disappointment. The ideal parents were those who,while sufficiently intelligentto appreciate the needsof the child and to have insight into the difficulties, didnot have great ambition, and so they did not constantly display theirdisappointment. They were perhaps rather fatalistic in theiroutlook. They looked upon the childas a gift for which to be thankful whatever the condition.

    ( Darling 54)Most people have had experiences with birth defects. Even people who thinkthey have never encountered someone with a birth defect are likely to be wrong. ” Since two hundred and fifty thousand babies with birth defects of varyingseverity are born in the United States each year” ( Gravelle 6), it would behard not to meet some of these people. In the past few decades, many strideshave been taken to help understand the causes of such diseases with hope oftreatments and cures.

    Also works of finding ways to help the parents cope withtheir emotional devastation have been taken as many accomplishments have beenmade. Parents are now finding ways to move past their anger and frustration andenjoy a loving relationship with their child. With a wider knowledge ofinformation available and treatment to drug addits families can pull though. Caring for a child is a tough emotional and physical battle but should always belooked as a gift, these children have much to offer. Work CitedDarling, Jon.

    Children Who Are Different. Toronto: The C. V. Mosby Company, 1982. Gardner, Suzy. Substance Abuse During Pregnancy: Protecting The Foetus And NewBorn Child.

    Norwich: UEA Norwich. , 1992. Gravelle, Karen. Understanding BirthDefects.

    U. S. A: Frankin Watts, 1990. Strom, Charles. Heredity and Ability.U.S.A: Plenum Press, 1990.Science

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