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I.

INTRODUCTION

Genes are the building blocks of heredity. They are passed from parent to child.

They hold DNA, the instructions for making proteins. Proteins do most of the work in the

cells. Heredity is the passing on of traits from parents to their offspring, either through

asexual reproduction or sexual reproduction. Through heredity, variations between

individuals can accumulate and cause species to evolve by natural selection. The

complete set of observable traits of the structure and behavior of an organism is called

phenotype. Moreover, phenotype is the physical appearance or distinctive trait of an

organism that is visible to the naked eye, Johnsen (1927). The study of the genes,

genetic variation, heredity in living organisms, and generally considered a field of

biology is called genetics.

Sometimes there is a mutation, a change in a gene or genes. The mutation

changes the genes instructions for making a protein, so the protein does not work

properly or is missing entirely. This can cause a medical condition called a genetic

disorder. And one of the common genetic disorders that experiencing nowadays is the

Down syndrome. In every cell in the human body there is nucleus, where genetic

material is stored in genes. Genes carry the codes responsible for all of the inherited

traits of human body and are grouped along rod-like structures called chromosomes.

Typically, the nucleus of each cell contains 23 pairs of chromosomes, half of which are

inherited from each parent. Down syndrome occurs when an individual has a full or

partial extra copy of chromosomes 21. Furthermore, down syndrome is a chromosomal

condition that is associated with intellectual disability, a characteristic facial appearance,

and weak muscle tone (hypotonia) in infancy.


People with down syndrome may have variety of birth defects. About half of all

affected children are born with a heart defect. Digestive abnormalities, such as blockage

of the intestine are less common. There are different types of down syndrome. Down

syndrome is usually caused by an error in cell division called nondisjunction, as the

embryo develops, the extra chromosomes is replicated in every cell of the body.

Mosaicism or mosaic down syndrome is diagnosed when there is a mixture of two

types of cells, some containing the usual forty-six (46) chromosomes and some

containing forty-seven. And the other one is translocation, which accounts for about four

percent (4%) of cases of down syndrome, however, an additional full or partial copy of

chromosome twenty-one (21) attaches to another chromosome, usually chromosome

fourteen(14).

Thus, down syndrome is cannot be cured since it is a natural genetic abnormality

of genes; however, treatment can help many people with down syndrome to live

productive lives well to adulthood. Treatment are based on each individuals physical

and intellectual need as well as the personal strengths and limitations. It is understood

that people or a child with down syndrome will need to receive proper care physically

and socially while living at home and community.

The purpose of the study is to explain how down syndrome occurs and what is

the cause of having it. It also provides internal definition of down syndrome. It touches

on the importance of being aware of down syndrome symptoms. It is for ones

information to develop understanding and consideration to the affected people.

Furthermore, this case study will provide extent and understandable meaning.
The findings of this study will redound to the benefit of society considering that

down syndrome is one of the most common known genetic abnormalities of human

being. The significance of the study is to provide the informative insight into the issue. In

addition, it is hoped that this study will be the beginning of an ongoing body of the

particular case into the issue of being aware about down syndrome. It can help in

students, parents and readers because of the information that the researchers will give.

It can help people in becoming well-knowledgeable about the situation of the affected

people. For parents, especially the beginners and still not have any idea about the case

of down syndrome, it can gives better understanding and clear insights about the

possible outcome that may lead into ones mind awareness and can be prepared if it

may happen. To the readers, an explicit and useful information can be collected in this

study in answering ones mind questions regarding to the case that has been focused. It

gives useful information to be more open-minded and be considerate of the natural

happenings in surroundings.

II. DEMOGRAPHIC PROFILE

Rowena G. Vida was born on September 2, 1978. She is now 39 years old. She

live in #4455 Kap.Rado St,Santolan Road,Gen. T. De Leon,Valenzuela City. She

finished her elementary level at Gen T. de Leon Elementary School in 1985, her

secondary level at Gen T. de Leon High School in 1992. And she accomplished her

college degree at Our Lady of Lourdes College in 1992.


She finished in BSE-History and MaEd Sped. Currently, she is working as a SPED

teacher at Gen T. de Leon Elementary School. She was married with Mr. Ronielo Vida,

a high school teacher and blessed with four kids.

III. ADVERSARIES

Health problems are common to the people who have a down syndrome than

the general population, When a baby was born with down syndrome, it is prone to the

higher risk of certain health problems, fifty percent (50%) of babies born with down

syndrome are also born with a congenital heart defect, due to the anatomical

differences and also complication by the weaker immune system. Infections are prone

among people with down syndrome especially during the five years of life. There are

different kind of health problems that being experience by the people who have down

syndrome like dementia, dementia is the common problem of the people who have

down syndrome the inability to thinks clearly or to understand what is real or not. Also

Sleep problems can lead to behavior problems and impair learning, there are studies

that had been report the high incidence of a sleep disturbance to the adolescence and

children who have a down syndrome, another kind of health problems is vision, people

who have a down syndrome are more likely engage to vision disorder such as

astigmatism that prevents from seeing clearly, people with down syndrome are delays in

developing of their effective focusing, depth perception and sharpness of vision. People

with down syndrome also experience of hearing loss that lead to difficulties of

developing speech and language, hearing is extremely important for mental

development and learning, mild or moderate hearing loss affects the children for
learning new words. There are many health problems that being faces by the people

who have down syndrome until now our medical advances their studies to increase the

life expectancy of people with down syndrome.

IV. INSIGHTS

People are often judgemental. They used to judge others disabilities without

even knowing the behind story of such person. Nowadays, people are living in the world

of discrimination. If one is being discriminated then the other person is the discriminator.

People should not only see the physical aspects but also the one that is within. Down

syndrome people are very sensitive. They are more likely to consider as a kid. They are

usually have a slow cognitive processing, and physically poor due to the health

defection such as heart. Basically, they are not active in academic performance.

Otherwise, they are the type of sweet-loving people and surely ones might carried

away. Adjustment, long patience and determination are the qualities of a person they

needed to be with them. But truly sometimes, there are some cases that cannot be

prevented because of the judgemental people that surrounds. Most important, they

deserve to be treated in a special manner because they are jewels that need to be

protected and secured. They were blessings from above. Everyone must be treated

fairly and not accordingly. Abnormalities do not matter at all.


V. APPENDICES

Our group provided few questions for the interview. Mrs. Rowena G. Vida was

asked this way:

What are the problems that you experience when you take care of a person with

a Down Syndrome (Trisonomy 21)?

She answered, There are lot of problems to encounter when it comes to taking care of

DS people. Since they have slow cognitive processing mind, it is hard for us to give

instructions to them. They are more likely babies that need extra care because they are

very sensitive. Moreover, their health especially heart. They are not physically active but

they excel in some ways, like being generous and helpful.

What are the good things or benefits in taking a person with down syndrome

(Trisonomy 21)?

She answered, Like what Ive said, they are sensitive people but a sweet-loving kind of

person. So if they are sweet to you, you might carried away.

How does having down syndrome (Trisonomy 21) affect you in your daily life?

She answered, In taking care of DS people, adjustment is one of the factor you may

consider to invest. As well as being long patience, and determined to help or teach

them. And they are more likely close to my heart.

What are the adjustments made when dealing with the problems in taking care of

a person with Down Syndrome (Trisonomy 21)?


She answered, Since they are very sensitive, they dont want to be shouted by others.

They must be treated special and of course talk them sensitively. Then, being long

patience. Patience is really important when dealing with them, you must be the one to

adjust for them. Lastly, their being sweet and I was really carried away. But most of all, I

enjoyed working and helping them as their second mother.