Birth Defects


Birth Defects Essay, Research Paper

Birth Defects

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

parents pass on or effected by drugs and alcohol upon the fetus of a new born


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

guilty 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


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

turning 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

live 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


and therefore not at high risk. besides, there was no history of


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)


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

while 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

consumption 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.

d) Congenital abnormalities: Health defects occur in up to 50 percent of

cases and skeletal defects are common, predominantly fusion of the bones of the

fingers, 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 2.7 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

their 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. the 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

child 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.

I saw her for the first time when she was 10 days old… I think I

was the

most petrified I’d ever been in my life, turning the corner and

wondering what I would see… She was much more deformed than I had been told.

At the time I thought,’ Oh, my god, What

have I done?’ ( the mother of a

spina bifida child). (Gardner 20)

The Interactionist view consists of attitude. ” Attitudes, such as

acceptance or rejection of handicapped children, are socially determined” (

Darling 56). Rejection is learned through socialization in a stigmatizing

society. From a very early age, we are exposed to negative attitudes towards

those who deviate from society’s norms of physical and mental development. So a

person growing up in a hutterite community, for example, might learn to be more

tolerant of the deviant than a child exposed only to the culture of the

majority. ” Because attitudes are acquired, they are subject to change.

Socialization never ends; we constantly grow and mature. Thus negative attitudes

towards the handicapped might well change in the course of caring for a

handicapped child”(Darling 61).

The families who manage best were not those in the upper classes. These

parents were ambitious for their children and never overcame their frustration

and disappointment. The ideal parents were those who,

while sufficiently intelligent to appreciate the needs

of the child and to have insight into the difficulties, did

not have great ambition, and so they did not constantly display their

disappointment. They were perhaps rather fatalistic in their

outlook. They looked upon the child

as a gift for which to be thankful whatever the condition.

( Darling 54)

Most people have had experiences with birth defects. Even people who think

they have never encountered someone with a birth defect are likely to be wrong.

” Since two hundred and fifty thousand babies with birth defects of varying

severity are born in the United States each year” ( Gravelle 6), it would be

hard not to meet some of these people. In the past few decades, many strides

have been taken to help understand the causes of such diseases with hope of

treatments and cures. Also works of finding ways to help the parents cope with

their emotional devastation have been taken as many accomplishments have been

made. Parents are now finding ways to move past their anger and frustration and

enjoy a loving relationship with their child. With a wider knowledge of

information available and treatment to drug addits families can pull though.

Caring for a child is a tough emotional and physical battle but should always be

looked as a gift, these children have much to offer.

Work Cited

Darling, Jon. Children Who Are Different. Toronto: The C.V. Mosby Company, 1982.

Gardner, Suzy. Substance Abuse During Pregnancy: Protecting The Foetus And New

Born Child. Norwich: UEA Norwich., 1992. Gravelle, Karen. Understanding Birth

Defects. U.S.A: Frankin Watts, 1990. Strom, Charles. Heredity and Ability.

U.S.A: Plenum Press, 1990.

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