Research Project: Genetic Disease

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Ian Jensen
Dr. Murdock
English 112
October 7, 2014
The Risk of Genetic Disease
Within my family genetic disease is a common occurrence. Growing up I was quickly
taught the effects of genetic diseases. The risk of genetic disease runs high in any family. My
family seems to be riddled with genetic disease, but I think my family is stronger than most.
My brother, Alex, has recently been diagnosed with anxiety disorder, autism, and bipolar
disorder. He is now 14 years of age. It wasn’t until he entered middle school that he began to
regularly visit doctors for his conditions and he was diagnosed. At an early age my parents both
noticed that he wasn’t like me or other children. He gave off very subtle signs that things were
not normal. These began with his inability to learn and pick up on things at the same age as
others. I remember sitting down with my parents and my brother’s kindergarten teacher. At the
time they were just beginning to regularly read and take quizzes on what they read. The teacher
noticed that he was not keeping up as well as everyone else. My mother quickly asked if it could
be dyslexia. The teacher said that because he was so young that it would be hard to distinguish if
he was dyslexic. My mother, who has a career in the medical field, quickly began to do her
research and talk to her coworkers on what they thought.
At that time, she began to piece together that her and my father would have to raise Alex
in a different way than they did me. This would prove to be more difficult than they expected.
Around that time my mother lost her job of 10 or more years. She quickly bounced around at
other jobs, but after about 4 years of job bouncing she decided to take a leave to spend her time
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focusing on my brother. This was a new transition for her because she was used to working 12
plus hours every other day, so for her to be home 24/7 she struggled trying to figure out what to
do with her time. The task of fighting with my brother quickly overcame her and she began to
suffer from depression. I do not know if she had suffered from depression before this, but I know
if she had this was more or less her breaking point. She had suffered from migraines since her
mid-twenties and the stress and depression caused by the constant fighting with Alex elevated
the strength and occurrence of her migraines causing her to spend days on days just lying in bed.
This would have a snowball affect with her depression and stress, which in turn made everything
worse for her.
My mother is a perfectionist and while she spent most of her time in bed, the house was
not run in the way she liked. The house was messier than she liked it and my brother was quickly
becoming more of a handful to handle, so her mind began to run at a thousand mile per hour.
This had a horrible effect on her sleeping and she began losing hours upon hours of sleep. Once
again this had a snowball effect on her. All of this put more pressure on my father.
My father was under a lot of pressure with his new job of fire chief and it was a large task
for him to juggle both the job and the family. He had little free time and was rarely home before
6 o’clock. This left Alex and I to fend for ourselves for a few hours before he got home. I did not
fully understand my brother’s problems early on.
I treated Alex like a normal younger brother and he did not know how to properly handle
it. This created a large amount of fighting between the two of us. When I say a lot of fighting, I
mean five or ten times more bickering than most siblings. My brother didn’t understand what
was going on and he would immediately call our father to tell him what was going on. This
added to the stress he had at work.
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At that time the level of stress on our parents was much higher than it should have been.
This created a tense home life because our parents seemed to be constantly fighting on how Alex
should be raised. I had an understanding of what was going on, but Alex did not. He began to
blame himself for all of the problems within the house and this made him question if he was even
loved in the family. About the time that I entered high school I began to see a therapist because I
did not feel like I was getting enough if any attention in the family. My parents were spending so
much time with my brother that I was forced to, in a way, become more mature faster. I felt like I
was spending a lot of time alone and my thoughts were all being pent up inside of me. This in
turn made me more stressed than it should have. I have suffered from migraines since I was eight
years old and all of this stress began doing just as it had done to my mother.
My migraines became more severe and this kept me out of school often. When I would
go back I would have a large amount of work to do and this of course stressed me out even more.
It got so bad that junior year I missed almost half of the first semester. I was forced to take
several classes over so that I could graduate on time. I was a student that was used to getting
decent grades and this was a huge change for me. My senior year was full of more work than
most others. Around the start of junior year I began to act up. I think it was due to the fact that in
a way I missed that part of my early teenage years. I wasn’t doing things that were illegal. I just
began disobeying my parent’s rules and curfews. I also feel that I began doing this to get more
attention because I had felt neglected.
As I have said several times, there was a large snowball effect within my family.
Recently I have become aware of other family members that have suffered from depression,
anxiety, bipolar disorder, and/or autism. The list seems to go on and on. I think that if my parents
were to have looked at their genetics they could have easily predicted that the conditions my
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brother has would have been prominent in either me or Alex. I believe that my parents now have
a better understanding of what exactly a genetic disease is and how to predict it.
A genetic disease is a mutation in the genetic material of a person. The mutant gene is
transmitted thru birth. These genetic mutations can create serious complications and even
death. Genetic disorders are a topic in biology that must not be avoided. Genetic disorders can
happen in humans, plants or animal. No one is safe from a genetic disorder. A genetic disorder
can appear in the first years of life, or they can appear much later in life when least expected. A
basic principal of biology states that the behavior of chromosomes during the meiosis process
can account for genetic inheritance patterns. There are many reasons for genetic disorders.
It is important to understand how people get certain traits and genes. A person receives
one set of chromosomes and genes from each person. That means each person inherits the traits.
One gene may be more influential then another in developing specific traits. The more powerful
gene is called the dominant gene and the less powerful is the recessive. A variation of a gene and
the trait it controls, such as the color of one’s eyes or hair is called in allele.
Humans can find out if they have a genetic condition, disorder, or they are likely to
develop a disease based on his or her genetic makeup through the process of genetic screening.
Individuals can be tested if their family shows a history of one specific disease. If they show
symptoms of a genetic disorder which could be improved by early diagnosis, or if they are
planning a family and are concerned about the possibility of passing on a genetic trait to their
offspring they can be tested.
Genetic tests use techniques to examine genes or markers near the genes. A technique
called linkage analysis is used when the gene cannot be directly identified but can be located
within a specific region of a chromosome. This testing requires additional DNA from an affected
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family member for comparison. Because each person's DNA is unique, genetic tests also can be
used for individual identification.
There are two main types of genetic disorders; early-onset and late-onset disorders.
Early-onset disorders are disorders that can be noticed and diagnosed as early as birth. Parents
can decide to undergo Prenatal Diagnosis. This is the genetic testing of a fetus. This may occur
when there is a risk of bearing a child with genes associated with mental retardation or physical
deterioration. Down syndrome is one of the most common genetic diseases screened by this
method. Newborn screening is frequently done as a preventative health measure. Tests usually
have clear benefit to the newborn because treatment is available. Late-onset Disorders include
adult diseases such as Huntington's disease, cancer and heart disease. Diseases like cancer and
heart disease are complex and have both genetic and environmental causes. Genetic tests may
indicate a susceptibility or predisposition for these diseases. Diseases like Huntington's disease
are caused by single genes that also are seen later in life. These types of disorders can be tested
for at any time.
Recently through studying blood samples of families in which there is a history of breast
cancer, scientists have isolated and identified a gene linked to breast cancer. In families with
hereditary breast cancer mutations in the BRCA1 gene confer an 85% lifetime risk of the disease,
as well as a 45% chance of ovarian cancer. Some women in such families who have learned that
they carry a mutated BRCA1 have elected to undergo Prophylactic mastectomy and
oophorectomy, a procedure that may reduce but does not eliminate the risk of cancer
(Beardsley).
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By being able to identify these genes through particular "markers" associated with the
gene, doctors will know which individuals are more susceptible to cancer and therefore can
follow the proper procedures to more effectively observe the individuals for signs of the disease.
The earlier the doctor can diagnose the cancer the more effective the treatment will be.
Genetic testing is not a single technology. Rather, it refers to a broad range of methods
for gauging the presence, absence or activity of genes in cells. At the relatively low tech end,
researchers can count the chromosomes in a patient's cells or measure the amount of tell-tale
proteins in his or her blood. At the most sophisticated level, researchers assay a cell's DNA with
molecular probes that can find a specific genetic sequence among the three billion base pairs that
make up human DNA. (Reenie) Genetic testing has a large potential for our society. It has the
capability of improving and lengthening human life. If used in an ethical manner, genetic testing
can eliminate unforeseen suffering and distress.
I’m not saying that if my parents would have chosen to or been able to undergo genetic
testing that things would have turned out differently, but I think that if a family has a history of
genetic disease that genetic testing would be a good option for them. This would give the family
a better idea on what to expect or how to properly prepare for their future.
My brother is making huge strides in improving. He is beginning to understand what is
going on. While he doesn’t know exactly what is going on he knows that he doesn’t make the
same decisions as others would. At times he will say, “It wasn’t me. I am being controlled by
someone else. I swear.” While this might sound like nonsense to most, to me and my parents it is
a sign that he understands his decision making isn’t at the level of most.
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Alex will regularly say these things after he has a spell where his anger takes control.
Alex has a problem with getting violent. Early on he would take most of his anger out on me
because I was not as big as our mother or father, but as I began to grow he would more regularly
take his anger out on our mother. Because she spent the most time with him she was the victim
of more of his actions. Alex would find or create ways to not go to school because he knew his
intelligence was not on the same level as others. The other kids also noticed this and would
severely bully him. Being bullied was another reason for him to avoid school. He quickly missed
a large number of school days and was reprimanded by the county court system. He was put on
probation for missing too much school. He wasn’t a fan of this because if he was late to school or
he missed school he would have to spend time in podville. This is a place where juvenile
delinquents would go and for their required time they would sit in a cubicle type box and have to
stare at the white wall. Many kids that go there are there for more severe reasons, but my brother
was there just as often as others. Having a probation officer, in a way, helped my parents get my
brother to class. If he would not wake in time they would call his officer and he would come and
make Alex go to class. Alex’s main reason to say he was sick and try to get out of school, was
the bullies. Due to the fact that as a 14 year old Alex has the maturity level of a 7 or 8 year old.
He doesn’t know how to properly try and make friends. He also doesn’t know who his friend is
and who is just trying to take advantage of him. Many kids his age would pretend to be his friend
and begin to bully him. Alex would come home complaining of being thrown into lockers or
punched, but when my parents would ask if he told a teacher about it he would say, “No, I didn’t
want to tell on my friends. I just want them to like me.” As an older brother this was
heartbreaking for me. I tried over and over again to tell him that they aren’t true friends, but he is
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so desperate to make friends that no matter how mean someone is to him if they say they are his
friend he will believe them.
As a family genetic disorders have greatly affected us. Recently as I’ve grown older, my
parents have opened up more to me about the genetic disorders their parents and their
grandparents had. I have found out that my relatives seem to be riddled with genetic disease.
My family seems to be a good representation of how genetic diseases are passed on through
family. My family also seems to be a good example of how parenting and the environment
people are raised in affects the family members with genetic diseases.
When my brother was younger my parents didn’t know exactly how to handle him. It
took several years for our parents to get a better grasp. The doctors and counselors that my
brother and my parents went to greatly affected how they handle the Alex. When a child is born
with a genetic disease and the parents have never had to deal with something of that nature
before, it will take time and a group effort to both learn how to handle and how to properly
approach the situation.
At the early stages of my brother’s life, my parents fought on a regular basis. Neither of
them knew how to properly handle him. Recently my father has been diagnosed with attention
deficit disorder. My mother has felt that because he was never able to focus, nothing was ever
able to properly be done about Alex. While my father recognizes his condition, he feels that it is
not the reason for their inability to handle my brother at an early age.
Having a son that has numerous genetic disabilities has affected my parents in raising
both Alex and me. My mother gets on my father for his lack of communication and doesn’t feel
that things get done in the proper way or the best way possible. My mother will open up to me
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and tell me things that should really be said to my father. My father will then open up to me with
things that should all be said to my mother. This, in sorts, makes me the middle man. My mother
has told me numerous times that she feels like the family would be better off without her. She
has previously consistently said that it is time for her to move out, but due to her lack of a job she
has no money to move out. If my brother were to find out about many of these things, he would
continuously blame himself.
Looking back at our family tree I would be able to tell him that it is not his fault. On my
father's side of the family there is a history of lack of communication. While on my mother's side
of the family there seems to be a history of holding emotions and feelings inside and causing
depression. Both of my parents seemed to have been given another form of genetic disease
passed on from their family. While these may not be severe genetic disorders, they are things
that are passed down from generation to generation that can easily be fixed.
I would not say that my family is a terrible situation, but I do think that because of my
parents have both been given their family’s lack of communication and depression, that my
brother having genetic diseases has had a greater effect than they normally would.
Genetic disorders that are not something that can easily be stopped, but with proper
preparedness within a family they can usually be handled in a better way. If a family would take
a look back in their history and see what sort of addictions, diseases, and disorders are in a
family tree, they would usually be given a better understanding of what might happen to be
passed down to their kids. This is the education that could have a great effect on improving a
family environment and improve the child’s and their parent’s lives.
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Genetic diseases have a great risk on how they affect families. As I've said before, my
brother is not the only one in my immediate family that suffers from some sort of genetic
disease. My father suffers from ADD and has learned a lack of communication. These of all the
passed down through his family. I have recently been informed that my grandfather had a large
amount of lack of communication. As my father grew up he picked up on that. Now that I know
my grandfather lacked in communication skills, I have a better understanding as to why my
father lacks when it comes to communication. My mother suffers from migraines and depression.
Also recently, I've found out that my grandmother also suffered from migraines and depression.
These are things that have been passed down through her family. I also suffer from migraines
and there's not much I can do to stop back. There is however, multiple ways for me to prevent
depression. I knew her depression affects people within a family and are no ways to prevent it
from happening to me. These are things that are not necessarily genetic diseases but passed
down from family member to family member. These are things that I can prevent.
As I look back in a family tree, I can prepare myself and try to teach myself to help
prevent these things from having such a great effect on my family. I know how this has affected
me, my father, my mother, and my brother and as I grow older I can discover ways of preventing
this with my future family. If one day I have kids, I can expect the possibility of my children
having genetic disorders similar to my brother. Living with him has given me a great
opportunity and that has taught me how to properly handle it. If any of my children would
develop anxiety or even autism, I feel that I am capable, to extent, to better handle the situation
than I've seen growing up.
The risk of genetic disease has greatly affected both me and my family, but I don't feel
like it has had such a negative effect. I think that living in a family with genetic disorders has
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helped me grow as a son, a brother, and as a human being. I have experienced things that many
have not. This has given me the ability to handle situations that most would not be able to. As
negative as genetic diseases can be, I think they can also help a family grow. No matter how
much bickering there is within my family, I know that we're still stronger and closer than most.
Throughout my life many people will tell me they are sorry for me and that they wish they could
be of help. I usually tell them that their pity is not really necessary. Don’t get me wrong, I am
honored when someone tries to help in any way possible, but I feel that the best people to help
are the ones that have experienced similar things. My family will always be the best at
supporting me or my brother through tough situations. While the risk of genetic disease runs in
any average family, I think a family that has already that experience many of the disease is the
best at working for it a second time.
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Works Cited
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Rennie, John. Trends in Genetics: Grading the Gene Tests. Scientific American. June 1994 pp.
88-97.
Grady, Denise. Unnatural Selection. Vogue. Oct 1995. pp. 230-236.
Beardsley, Tim. Trends in Human Genetics: Vital Data. Scientific American. March 1996 pp.
100-105.
Genetic Tests and Descrimination www.er.doe.gov/production/oher/humsubj/spring
97/spr9709.html last accessed 10-31-97
Genes on the Line www.Pub.umich.edu/daily/1997/Feb/02-12-97/edit/edit2.htm last accessed
11-1-97
Lapham, E. Virginia; Kozma, Chahila; Weiss, Joan O. Genetic Discrimination: Perspectives of
Consumers Science. Vol 274. 24, Oct 1996. pp. 621-624.
Dworetzky, Tom No Deltas Need Apply: Will DNA Mutation F508 make you an outcast? Omni,
v 15, n 5, Feb-Mar 1993. p. 16.
Digest of introduced bill affecting Indiana code 27-4-1-4 ; 27-8-25. effective July 1, 1997
Marshal, Eliot. The Genome Programs Conscience, Science. v 274. 25, October 1996 pp. 488
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