My paternal and maternal grandparents’ health history has provided me a knowledgeable background of my family and health history. I have learned some interesting information about my family’s health history from the family tree I created. Chong Nhia Vang, my paternal grandfather, was born healthy and now he has dementia/Alzheimer’s due to aging. He also has hearing loss. It is likely not a coincidence that one of my paternal uncles, Rauj Vang, also has dementia/Alzheimer’s at a younger age than my grandpa. Moreover, my dad’s youngest brother, Ger Vang, was the only one born with Down syndrome (DS), which is rare in the family tree.
Now he was diagnosed with type 2 Diabetes. Next, my maternal grandparents had no health issues at birth, but they were diagnosed with deadly diseases before they passed away. All of their children, including my mom, were born healthy. However, both of them passed away with terrible diseases. My grandpa suffered and died from stroke, while my grandma died from type 2 Diabetes. Fortunately, all of my siblings, aunts, and uncles were born healthy even though one of my paternal uncles, Ger, has Down syndrome. These health patterns will remain in my family’s health history.
After I obtained my family’s health history, I will be aware of the potential diseases that can happen within my family. Since it happened in my dad’s family, I chose to research and focus on Down syndrome and the possibility a child is born with this disorder. After I am done with my research, my family and I could use our health history and family tree to predict and prevent having DS in the family line. Down syndrome is the result of an extra chromosome. It is a genetic variation that affects thousands of newborns in the United States. According to Christianson, more than 350,000 people live with Down syndrome.
Even though many people with Down syndrome are born with major birth defects and/or other medical problems, they all have common facial features. Some are born with hearing loss, eye diseases, and ear infections. However, they learn differently in their patterns of development. Their intellectual, language, and movement development are distinctive. Down syndrome causes delays in physical, intellectual and language development. In 1959, Jerome Lejeune and his colleagues found that Down syndrome was due to the triplication of the 21st chromosome.
The extra chromosome leads to the physical features and developmental challenges that can occur among people with the syndrome (Christianson). Even though researchers know that Down syndrome is caused by an extra chromosome, they do not know for sure why this syndrome occurs or how many different factors play a role. One factor that increases the risk for having a baby with DS is the mother’s age. Zampieri agrees that women who are 35 years or older when they become pregnant are more likely to have a baby affected by Down syndrome than women who become pregnant at a younger age.
However, Zampieri adds the majority of babies with Down syndrome are born to mothers less than 35 years old because younger women give more births. Hence, it is best for women to have children at an age younger than 35 years old or older. When doctors try to detect DS during pregnancy, they often use the two basic types of tests which are the screening test and the diagnostic test. A screening test can tell a woman whether her baby has a lower or higher chance of having Down syndrome. Screening tests are not as accurate as diagnostic tests; therefore, a diagnostic test might be needed.
According to Pruthi, screening tests do not provide an absolute diagnosis, but they are safer for the mother and the baby. Diagnostic tests can typically detect whether or not a baby will have Down syndrome, but they are more risky for the mother and baby. No one can predict the full impact of the syndrome on a baby using both the screening and diagnostic tests. Fortunately, a new test has been available since 2010 for certain chromosome problems, including Down syndrome. The test screens the mother’s blood to detect small pieces of the developing baby’s DNA that are circulating in the mother’s blood.
Pruthi recommends this test for women who are more likely to have a pregnancy affected by Down syndrome. The test is typically completed during the first 3 months of pregnancy and it is becoming more widely available and used. Generally, humans are born with 46 chromosomes. Half are contributed by the mother and half contributed by the father, to equal 23 pairs. People with Down syndrome have 47 chromosomes, where there is an extra, or third, copy of chromosome. The other causes can be Robertsonian translocation and isochromosomal or ring chromosome.
Asim defines, “Ischromosome is a term used to describe a condition in which two long arms of chromosome separate together rather than the long and short arm separating together during egg sperm development. ” This is why the scientific term for Down syndrome is “Trisomy 21. ” Today, through a blood test, physicians can create a karyotype by staining the chromosomes with dye and photographing them through a microscope to look for genetic abnormalities. In addition, symptoms can also aid doctors and physicians in determining whether a newborn baby will have Down syndrome.
Symptoms of Down syndrome vary, but the most common symptoms are decreased muscle tone and loose joints, upward slant of the eyes, flattened face, and depressed nasal bridge with smaller nose. It also includes mental retardation, small mouth, and abnormally-shaped ears (Christianson). Other features include big toes (a wide space between the big and the second toes), abnormal pattern of fingerprint and short fingers (Asim). Some children with Down syndrome also have visual, hearing, heart, and gastrointestinal problems.
Down syndrome is associated with a high risk of stroke, expressed across all ages. “[For instance,] Ischemic stroke risk in [children with] DS appears mostly driven by cardio embolic risk. The greater risk of hemorrhagic stroke and lower risk of coronary events in males) in DS remain unexplained” Sobey points out. Nonetheless, doctors are uncertain with exact statistics to illustrate their point in regards to their findings. Even though there are many diseases and conditions associated with individuals born with Down syndrome, there are ways to treat and prevent these conditions.
Asim adds, “Down syndrome is one of the most leading causes of intellectual disability and millions of these patients face various health issues including learning and memory… ” Many of these diseases and conditions can be corrected and treated through medical interventions and, most importantly, families support. Although Down syndrome is a lifelong condition, there are services early in life that often help babies and children with Down syndrome improve their physical and intellectual abilities. Most of these services focus on helping children with Down syndrome develop to their full potential.
These services include speech, occupational, and physical therapy, and they are typically offered through early intervention programs in each state. Children with Down syndrome may also need extra help or attention in school, although many children are included in regular classes. Individuals with Down syndrome benefit from loving homes, early intervention, inclusive education, appropriate medical care and positive public attitudes. In adulthood, some people with Down syndrome hold jobs, live independently and enjoy recreational opportunities in their communities.
Furthermore, social support leads the person to believe that he or she is well cared for and loved, valued and is important in a mutual obligation and communication (Siklos). Examples of social support include support from one’s spouse, extended family, and friends; the availability of leisure time in which one can engage in recreational activities; as well as support from community programs, professional help, and the availability of services and programs geared toward families with a disabled child. Lifestyle is significant in improving health issues and preventing diseases like DS.
Even though this syndrome runs in my family’s genetics, I am fully aware of how to prevent it, even when I’m a man, from happening it again by having children before the age of 35. I am currently a full-time student at North Hennepin Community College. Most of the time, I do my school work in the Phi Theta Kappa (PTK) room in the library. In the room, I sit on a comfortable, rolling chair doing all assignments quietly by myself all day. I attend every course lectures, but do homework in the same place where there is no noise and anyone to disturb me.
I know that my lifestyle habits need to change, and I am planning on improving my habits of living a sedentary life most of the time. My short and mid-term goals are to exercise, go out, and have fun with friends and families. I would, at least, like to play volleyball for an hour every day and continue to work out at the gym every night. My long-term goals are to incorporate school with exercise and work with families. If I succeed in any goals I set, I would treat myself a delicate and delicious meal at Applebee’s and sometimes at a greasy, junkfood restaurant.
Down syndrome remains the most common chromosomal condition diagnosed in the United States. Each year, about 6,000 babies born in the United States have Down syndrome. This means that Down syndrome occurs in about 1 out of every 700 babies. While the likelihood of giving birth to a child with Down syndrome increases with maternal age, 80% of babies with Down syndrome are born to women under 35 years of age, as women in that age group give birth to more babies overall. There is a wide variation in cognitive abilities, behavior, and physical development in individuals with Down syndrome.
Each individual has his/her own unique personality, capabilities and talents. Although, Down syndrome is a lifelong condition, there are services available to help babies and children with Down syndrome improve their physical and intellectual abilities. Individuals with Down syndrome benefit from numerous things such as loving homes, wide-range education, and positive public attitudes. In adulthood, with social support, some people with Down syndrome hold jobs, live independently and enjoy recreational opportunities in their communities.
