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Personal Experience
The situation that I decided to experience is being told that I am pregnant with a child that most likely has Trisomy 21, also known as Down syndrome. As I place myself into this situation, I begin to wonder how I would feel and what I would do if this event was to happen to me. If a doctor was to tell me that my son or daughter most likely had Down syndrome, I think that I would be upset at first, but would then be thankful. At first, I would be upset because, although I do not have a child of my own yet, I am sure that it is hard to hear that your child has Down syndrome after praying for a healthy baby. It is possible that I may even begin to question if I did something wrong that would give my child Down syndrome. Eventually, I would accept that my child would have Down syndrome and I would be thankful. I would be thankful to be having a child because many women struggle to get pregnant. I would also be thankful for having a healthy child who has Down syndrome. Having a child with Down syndrome would be difficult, but it would all be worth it for someone you love. If I were in this situation, I would have to learn and adapt to meet the needs of my child, but no matter what, I would always be thankful.
Definition of Down Syndrome
According to the National Down Syndrome Society (2019), within the human body, a nucleus can be found in every cell. The NDSS (2019), continues to say that within the nucleus, there are genes that are grouped together in rod-like structures called chromosomes that contain the genetic makeup that is present in an individual. In a common nucleus, 23 pairs, half coming from each parent, of chromosomes are present. However, as the National Down Syndrome Society states that when there is an additional copy of the 21st chromosome, whether it is half or full, Down syndrome results in the individual (National Down Syndrome Society, 2019, para. 1).
The Commonality of Down Syndrome
The National Down Syndrome Society also provides statistics from the Centers for Disease Control and Prevention that clarify how common Down Syndrome is in the United States. The NDSS states that according to the Centers for Disease Control and Prevention, approximately one in every 700 babies in the United States is born with Down syndrome, making Down syndrome the most common chromosomal condition in the U.S. About 6,000 babies with Down syndrome are born in the United States each year (NDSS, 2019, para. 3). These statistics show that this condition is common in the United States.
Causes
Both the National Down Syndrome Society and the textbook, written by Newman and Newman, state that Down syndrome is a genetically transmitted condition caused by a mistake in the division of cells. More specifically, the article explains that the condition is
caused by an error in cell division called nondisjunction. Nondisjunction results in an embryo with three copies of chromosome 21 instead of the usual two& prior to or at conception, a pair of 21st chromosomes in either the sperm or the egg fails to separate. As the embryo develops, the extra chromosome is replicated in every cell of the body (NDSS, 2019, para. 6).
Newman and Newman (2015) add that mothers who are over the age of 40 years old are at primary risk of giving birth to children who have down syndrome. This is due to, in part, the deterioration of the ova. However, Newman and Newman (2015) also explain that aging men can contribute because the number of defective sperm increases with age. With all this being said, Newman and Newman conclude that although age may be a factor, many children who are born with down syndrome have mothers who are under the age of 35 (Newman and Newman, 2015, pg. 118).
Hereditary or Not
Many people ask the question of whether or not Down syndrome is hereditary and can be passed on throughout the generations of a family. The answer is that Down syndrome is a genetic condition, which means it is related to genes. However, according to the National Down Syndrome Society, only 1% of Down syndrome cases are hereditary and travel through genes from the parent to the child (NDSS, 2019, para. 16). All in all, this condition is caused by atypical division in cells, making it a genetic condition and not hereditary.
Diagnoses
There are two ways in which Down syndrome can be diagnosed: prenatally or after birth. To diagnose this condition prenatally two tests can be performed, known as screening tests and diagnostics tests. The National Down Syndrome Society provides information on both tests that are performed. According to the NDSS, screening tests give the probability of having a child with the condition and they are not the most accurate; however, they are not harmful to the mother or the child. The tests that are conducted are blood tests, also called serum screening tests. These tests are used to measure different materials in the mothers blood and their amounts. To roughly calculate the probability of having a child with Down Syndrome, this amount of different substances plus the age of the mother is used. Additionally, a sonogram is commonly conducted along with blood tests to examine for characteristics that may be an indication of the condition. Another prenatal test is diagnostic tests, which according to the NDSS (2019), have almost 100% accuracy; however, there is up to a 1% risk of a miscarriage with these tests (NDSS, 2019, para. 23). Chorionic villus sampling and amniocentesis are the two types of diagnostic tests that are conducted. Chronic villus sampling is done in the 1st trimester between 9 and 14 weeks, while amniocentesis, is conducted in the 2nd trimester between 15 and 20 weeks (NDSS, 2019, para. 23). On the other hand, Down syndrome can be diagnosed after birth. This is done simply by looking at the child. Certain physical traits may determine if a child has Down syndrome. According to the article, these physical traits include low muscle tone, a single deep crease across the palm of the hand, a slightly flattened facial profile, and an upward slant to the eyes (NDSS, 2019, para. 24). If these physical traits are present, the child may have Down syndrome, but they also could not. To verify, a karyotype is performed. The NDSS (2019) describes a karyotype as a chromosomal analysis and it is conducted when the doctor draws a blood sample, photographs the chromosomes, then groups them by their number, size, and shape. From this, doctors can examine the chromosomes and determine if Down syndrome is present in the child or not (NDSS, 2019, para. 24).
Effects
The textbook discusses some of the effects that Down syndrome can have on a persons health. Newman and Newman (2015) state that the additional 21st chromosome can have many physical and intellectual effects on a child. These effects include an IQ in the range of 30-80, distinctive facial features, heart defects, intestinal problems, hearing defects, susceptibility to repeated ear infections, and tendency to develop narrowing in the arteries in adulthood, with attendant increase in the risk of heart disease ( Newman, Newman, 2015, pg. 95). Overall, Down syndrome has many effects on an individual and their health.
Down Syndrome Resources in Toledo and Bowling Green
Within the Toledo and Bowling Green area, there are many different resources for individuals with Down syndrome. Two of these resources include the Down Syndrome Association of Greater Toledo and the Council for Exceptional Children. In 1983, a group of parents with children with Down syndrome wanted to create more opportunities for them, which lead to the creation of the Down Syndrome Association of Greater Toledo (Down Syndrome Association, n.d., para. 1). The Down Syndrome Association of Greater Toledo states that their mission is to empower individuals with Down syndrome to achieve their goals and reach their fullest potential by providing support, education, and advocacy not only for the individual, but also their families and communities and have the vision of a community where all individuals with Down syndrome are accepted, included, and given limitless opportunities to pursue their dreams as respected members of society (DSA, n.d., para. 1). This association has various programs and services for individuals of all different ages with Down syndrome. They have programs and services for new parents, early childhood, school-age individuals, teens/adults, aging individuals, and even families and communities. Some of these programs and services include life skills workshops, social dances, and training in inclusion and awareness for schools and businesses. The second resource is the Council for Exceptional Children, which is called the CEC for short. This is a student organization at Bowling Green State University that I just recently joined. The organization works with children with disabilities, including those with Down syndrome. Various events, fundraisers, and more are set up for these individuals, and students volunteer to help. Some of these events include trick-or-treating, prom, sports events, and so much more. This organization also helps family members of individuals with Down syndrome, to ensure that they are not feeling left out or neglected. Overall, these two organizations within the area are great resources for those who have Down syndrome and for those who know someone with Down syndrome.
Resources
- Down Syndrome Association of Greater Toledo. (n.d.). Mission and vision. Retrieved on Sept. 20 from http://www.dsagt.org/page-1586290.
- National Down Syndrome Society. (2019). What is Down Syndrome?, Retrieved on Sept. 20 from https://www.ndss.org/about-down-syndrome/down-syndrome/.
- Newman, B.M. & Newman, P.R. (2015). Development through life: A psychosocial approach, 12th edition. CT: Cengage
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