Академический Документы
Профессиональный Документы
Культура Документы
Earl Abayan
3/24/08
Period 1
Introduction
A genetic disease is different from those caused by bacteria, viruses, or other organisms
because genetic diseases usually involve the misplacement or the improper function of a gene,
chromosome, or other factors that can be lead to a genetic disorder. Viruses or bacteria only
cause viral infections that are simple sickness such as colds or fever, but viruses can cause severe
mutations such as cancer to any part of the body. Bacterial and viral infections may only be
temporary and will soon fade away but genetic disorders are usually permanent and may cause a
tremendous amount of damage to a person’s physical and mental abilities. Although some viral
infections, such as cancer, can cause an incredible amount of problems for a human body and is
caused by an abnormality in uncontrolled division of the tumor cells, genetic disorders are
equally destructive but these disorders are usually caused by the genetic information, or genes,
having an irregular formation that can cause different types of genetic disorders. There are
different ways of getting a genetic disease in your life. Some genetic disorders are caused by an
abnormality in autosomal chromosomes in which there are more or less than the normal number
of chromosomes in one chromosome number or different types of genes in corresponding
chromosomes, resulting in an improper function of a gene. Another way is by sex-linked or X-
linked genes when the gene coding for the genetic disorder is carried on the X chromosome,
which makes the female individual the carrier of the disease, but this process mostly affects
mostly male individuals and very few female individuals. Both autosomal and X-linked
processes are called single-gene genetic disorders that are caused by mutations in the DNA
sequence of one gene. Another type of genetic disorder is a multifactorial gene that is caused by
a mixture of environmental factors and mutations in multiple genes. The third type of genetic
disorder is a chromosomal gene where chromosomes line up into a different chromosome
number, or translocation, resulting in a specific type of disease. The final type of genetic disorder
is mitochondrial gene where mutations occur in the nonchromosomal DNA of the mitochondria.
These are the four different and distinct types of genetic disorders.
Inheritance Pattern
In Alopecia areata, anyone can inherit the genetic disorder. If both parents are both
normal, then there is still a chance that their son or daughter might get the disease because
Alopecia areata is an autoimmune disease therefore it depends on the immune system of the
individual and not on the alleles or chromosomes of any parent. If both parents have Alopecia
areata, the individuals might have a higher risk of inheriting the disorder themselves. But this
genetic disorder is dependent on the individual, which means that it is not found on any
chromosome, it is by random chance that you inherit the disease, and it can occur in the most
unexpected times.
Symptoms
Several symptoms of the disease are losing patches of hair or not growing any sign of
hair anywhere on the body. Hair patches may form in the skin of the scalp that makes a visible
representation of Alopecia areata and may occur at the rest of the body. This is a different type of
Alopecia called Alopecia universalis, or total hair loss for the entire body. Although Alopecia
areata is the disease coding for hair loss, it may not affect an individual for as long as days or it
may take years for another effect of Alopecia areata. When the effects of the disease occur varies
for each individual and the immune system may act differently for each occurrence of the
disease.
Life Expectancy
Unlike many other types of genetic disorders, Alopecia areata will not decrease the life
expectancy of an individual who has the disease. A person who has Alopecia areata may have
symptoms of hair loss, but is otherwise healthy in other ways. The immune system’s incidents
have little effect on the age of an individual in the course of his or her life.
Reflection
Here are some questions that I asked to people who were affected by Alopecia areata.
They answered very truthfully and explained everything with as much accuracy as possible.
Interview 1: This interview is from a mom named Jennifer Regan who currently has a son
who has alopecia areata. Here are the answers from Will Regan, answered by her mom, since
the 11-year-old boy might feel offended.
1) This disease has profoundly affected William. It has most definitely affected his every day
life in the past 2 years since it's inception at age 9. Will suffered a bout with Pneumonia a month
or so before the alopecia became a noticeable. Since then we have been on a bit of a roller
coaster ride understanding his disease(s). Will has suffered from lethargy, muscle weakness,
severe eczema, in addition to his alopecia. We treated the alopecia with steroid creams, and
very painful steroid injections for over a year and a half. About 6 months ago, I halted the use of
the injections. Results were not forthcoming, and the alopecia has not dramatically increased
either. (About 30-35% hair loss) The eczema continues to be successfully treated at times of
flare-ups with prescription creams.
2) The most troubling thing occurring over a year and a half ago was Will's anxiety/depressive
episodes. We met with several doctors to examine these issues. After being on a small dose of
Prozac for about six months, Will was showing some better coping strategies. Prior to the
Prozac it seems his whole immune system's depression was making him weepy and unable to
cope with small issues. In the end, I really feel it was less psychological, more physiological.
Will was still not able to perform sports even after being on Prozac.
3) His continued uncharacteristic weakness in sports prompted me to seek help from Boston
Children's reumatology department. The doctors at Children's reumatology/immunology/allergy
dept. Agreed with me. In talking with the doctors at Children's here in Boston we now
understand that his immune system had been additionally compromised. About 6 months ago we
learned that will had significant allergies to environmental things such as cats, dogs (we have
2"hypoallergenic"), dust mites, oak, etc. These allergies were affecting Will's system, making
him asthmatic. Since then Will has been on Singular, Abuterol (daily) and Flovent (as needed).
These treatments have improved his life dramatically. We no longer are witnesses to a
lethargic, weak-playing child. They have helped increase his activity levels and allowed Will to
function pretty normally.
4) My husband and I have 2 other children not at all affected by these environmental allergens
or Will's other ailments, so it is really a puzzle for all of us, doctors included. At this point we
are waiting to take some additional blood tests on his thyroid, as many of his thyroid
antibodies six months ago were also out of wack. What affect this will have on Will's treatment
remains unknown. Doctors at Children's will continue to monitor him, but so far we have no
good reason for all of these things hitting him so, and thus, no treatment plan to pursue.
5) Regarding the sun, Will generally wears a baseball hat and sunscreen. He is one of the few
kids allowed to wear one in class. Both at home and school Will is treated the same as everyone
else. There was some teasing initially, but once the kids in school and elsewhere have been
educated, they are quite kind. Academically Will is a very strong learner. His favorite thing to
do, however, sports has been more difficult for Will. He has a harder time keeping up with his
peers (running, agility and skill execution). I think it does still affect his self-esteem, as he used
to be the fastest kid in school. He is no longer on the top soccer team, something that most
definitely disappoints him. We did not discover his asthma until last soccer season was over and
placements had already been made. We reassure him that there's no reason he cannot move back
up. We are working as a family to focus on the victories, and not let the shortfalls define us. Of
course we all hope that Will's alopecia areata does not worsen and become totalis.
6) I hope you don't mind my answering Will's questions, but it's better for him as an 11-year-old
boy if he does not feel defined by this disease. We hope since he has not hit the 50% mark, he
can overcome it and regain his former hair, energy and exuberance for everything. Regardless of
the hair loss, his happiness and confidence is of utmost importance to his father and me. We
want him to see himself as just as capable as everyone else he encounters (as he is). Incidentally
I understand all of Will's issues are possible additional illnesses that can coexist with alopecia
areata & other autoimmune diseases. We live with it, but it does not have to define what we can
(or not) do with our lives.
Interview 2: This interview is from two people named a 9-year-old little girl named
Maddie (red) and her 37-year-old mom named Betsy (green). Both are intertwined with
alopecia but Betsy only has alopecia areata since she was six-years-old while Maddie has
alopecia universalis, the condition where there is no hair on the body, since she was nine-
years-old.
1) Sometimes people stare at me but my dad says to just smile at them and they usually smile
back. I am lucky to go to a small Catholic school and I don’t get teased, but some of my friends
with alopecia do get made fun of at their schools.
My alopecia is not a big part of my life because I rarely get a bald spot that other people can see.
2) The scariest day was when I did not wear a bandana to school I was afraid that my friends
would not think I was the same person and would not want to be my friend anymore.
I have spoken to people who had alopecia areata and later in their life developed alopecia
universalis and lost all of their hair. I do fear that I could one day lose all of my hair.
3) I tried a few things (cortisone creams and shots) that my parents and doctors suggested at first
but they didn't work so I don't use any treatments anymore.
When I was a child I received cortisone shots in my bald spots and they worked well to regrow
my hair.
4) Yes, I also have terrible seasonal allergies and eczema.
I don't have any other diseases, but many people with alopecia do suffer from other autoimmune
diseases.
5) I use sunscreen on my head and the rest of my body.
I have never lost enough hair to worry about the sun.
6) I am normal. I just don’t have hair.
People with alopecia are normal and live normal (and often extraordinary) lives. We have
friends with alopecia who are married, have children, and are happy with successful careers
including, actress, Olympic gold medallist, and stockbroker. These people are inspirational role
models to my daughter and I am so happy that she has met them.
Bibliography
Bertolino (2000). Is alopecia areata a hereditary condition? Retrieved on March 11, 2008. From,
http://www.help4alopecia.com/alopecia/what-is-alopecia-areata/
National Alopecia Areata Foundation. What is Alopecia Areata? Retrieved on March 11, 2008. From,
http://www.naaf.org/default2.asp
Web MD. How is alopecia areata treated? Archives of Dermatology (vol. 134, 1998;1349-52)
Retrieved on March 11, 2008. From, http://www.medicinenet.com/alopecia_areata/page2.htm
Your Genes, Your Choices (1997) An online booklet about the ethical, legal, and social implications
of genome research. Retrieved on March 12,2008. From,
http://www.ornl.gov/sci/techresources/Human_Genome/medicine/assist.shtml
Children’s Alopecia Project. An online research on the different factors of alopecia areata. Retrieved
on March 12, 2008. From, http://www.childrensalopeciaproject.org/cap/index.php?
option=com_frontpage&Itemid=1