Essay/Term paper: Birth defects

Essay, term paper, research paper:  Science

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
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
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
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
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
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
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.