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