A Parent Of A Child Diagnosed With Down Syndrome

Jane O'Brien: (In a comforting voice) First, calm down, Miss Anderson. I know it’s hard for you to hear your baby has Down syndrome but please take a deep breath, I will explain everything you need to know. First of all, Down Syndrome is a genetic disorder that involves birth defects, intellectual disabilities, and characteristic facial features. Additionally, it often involves heart defects, visual and hearing impairments, and other health problems. if you thinking what is genetic disorder is. Genetic disorder is altered or faulty gene or set of genes. The four broad groups of genetic disorders are single gene disorders, chromosome abnormalities, mitochondrial

. Down syndrome is not a disease that someone catches and is not caused by difficulties during the pregnancy, it is a genetic condition. This condition is caused by the presence of an extra chromosome in the body’s cells and causes a redundant amount of proteins to be formed. All cells of the body derive from a single cell formed by the fusion of a father’s sperm and a mother’s egg. Each cell carries a nucleus full of genetic material known as genes. These genes are inherited from both the mother and father. Each cell normally contains 46 pairs of chromosomes. 23 chromosomes come from one parent and 23 from the other, hence the 46 pairs. When it comes to children with down syndrome, one of the chromosomes does not separate properly and so the

Thousands of babies are born a day in the United States. One out every 691 babies born has Down syndrome, a disorder caused by an extra copy of the chromosome twenty one. In short, this syndrome shortens the person’s life span, and causes assorted severity of mental retardation. Those carrying this extra chromosome have flattened noses, rounder faces, are petite in size, and are much more prone to additional unhealthy disturbances or effects on substantial systems in the body.

Discovering you are pregnant with a child is supposed to be one of the best days of your life, but finding out your baby has the one extra 21st chromosome could change everything. Author and national correspondent for the New York Times, Amy Harmon, fights for children and families affected by the disease in her article, “Prenatal Test Puts Down Syndrome in Hard Focus.” Harmon recognizes in her article that raising a child with this disease is not easy. She provides evidence of this by including quotes and personal stories from parents and family members whose loved ones are affected by it. She illustrates a genuine passion for the growing number of parents that are “Convinced that more couples would chose to continue the pregnancies if they better appreciated what it meant to raise a child with Down syndrome”(Harmon). To better put it in perspective, an estimated 90% of women chose to have an abortion if they are given a positive diagnosis for Down syndrome.

Kristen Isgro highlights the challenges that the mothers and caregivers go through on a daily basis. Three groups of women, ages ranging from 33 to 66 and all having a child with Down syndrome, discussing the issues such as how they advocate for their children. They also discuss what they have learned from experience dealing with health care providers and educators, and deal with how their children are viewed in different settings.

“When families get a diagnosis prenatally, they use the words ‘shock’, ‘sadness’, ‘disbelief’”, says Sarah Cullen of the Massachusetts Down Syndrome Congress. “ You feel like like the rug is pulled out from under you. You feel very heavy. You feel very, very alone” (Szabo 1). When parents receive the results of their prenatal test, many do not know what to do. They can feel very overwhelmed, because their baby is unhealthy and there may be nothing that they can do about it. Often the doctor does not know what to do either, because there may not be a cure for the disease.This kind of news alone is agonizing for parents. Mothers should not have genetic testing done to see if their baby has diseases because it causes unnecessary anxiety for the parents, tests may not always be accurate, and it is unethical.

Conclusion I. Thesis Restatement: Down syndrome is the most common genetic disorder in the United States and it accounts for much of the learning disabilities found in children today. Every person with down syndrome can display different characteristics, including physical, intellectual, and emotional characteristics. There is no cure for down syndrome but its symptoms are treatable and much can be done to improve the lives of those with the disorder. II. Review: There are three forms of Down syndrome, with three different variations of having an extra chromosome 21. Although there are three different types, they all portray the same characteristics and all individuals with the disorder should receive individualized care based on their disorder.

After trying for many years, a woman was successful in becoming pregnant. As a component of one of her routine pre-natal appointments, she was tested for fetal abnormalities. A blood test confirmed that her baby has Down syndrome and her physician recommended aborting the fetus. Down syndrome is a chromosomal abnormality that leads to intellectual disability, weak muscle tone and a unique facial characteristic. Down syndrome children often have increased risks for heart defects and other medical conditions such as gastric reflux. Taking care of a child with Down syndrome can be both mentally and physically exhausting. Taking care of a child with Down syndrome can be equally rewarding.

Luke Zimmerman, who plays on “The Secret Life of an American Teenager” and “Glee”, is a famous celebrity that is diagnosed with Down syndrome and he is 35 years old and has been involved in early intervention programs from the time he was two weeks old. In this report, you will learn about certain things having to do with Down syndrome. Such as the basic description, the background and history, and the complications for the kids who have Down syndrome and the parents of kids who have Down syndrome. Down syndrome is a chromosomal condition of chromosome 21 that causes intellectual and developmental problems.

Occupational therapy is a way of changing lives by means of improving skills used in daily activities and therefore increasing quality of life. Occupational therapy enhances everyday experiences for a diverse group of individuals ranging from infants to the elderly, including those with cognitive, developmental, mental, and physical disabilities. I am excited to pursue a career in occupational therapy because I realized at a young age that occupational therapists understood my younger sister with Down syndrome in the same way that I did. They saw her first as a person with many strengths and abilities that they worked to build upon. OTs acknowledged her ideas and how she enjoyed playing, which they used as a basis for creating meaningful therapeutic activities. I observed OTs adapt the environment within my home to fit the wants and needs of my sister while understanding and developing her as a whole person throughout each therapy session. OTs tremendously impacted my sister’s life by helping her with activities of daily living from infancy to young adulthood, such as learning to swallow, gripping a spoon, or figuring out modification strategies for getting dressed. For these reasons along with the foundation of a holistic approach to therapy, occupational therapists tend to be my favorite healthcare professionals involved in my sister’s care. My personal experience along with my education, research, and professional experiences have led and prepared me to study occupational

Although there is no technique to prevent the onslaught of Down syndrome, it can nevertheless be identified prior to a child’s birth. Many of the health issues associated with this illness can be treated, and a multitude of resources can utilized

Often people who have disabilities or have family with such an issue look at screening as discrimination because Dr.’s are finding out whether the baby will be healthy or if it will have further issues. The families with such abnormalities continue to believe that it is wrong to conceive a child with disabilities and further abort it rather than continue. Opponents fear the result of aborting with screening procedures and thinks it expresses a side of negativity to people who are disabled. According to The New York Times, a mother of three, Amy Becker states, “I declined the bloodwork, amniocentesis, and declined to return the insurance calls to line me up with a nurse for my pregnancy”. Becker has a child with down syndrome, the oldest. The doctor’s assured Amy that “Penny”, the oldest, would have learning disabilities and development wouldn’t come easy. Penny was smart, and was able to tell small tales and sing songs about fairytale dreams. She was also able to at the age of two point out a man in distress in a book and want to help him. There are many forms of down syndrome and they can often lead to issues with internal organs such as the heart. According to the NIH, “almost one half of babies born with down syndrome have congenital heart disease”. Doctors also concluded that due to the abnormality that children with down syndrome have often lead to other issues such as

Marisna is a 39yo, G3 P2002, who is currently 21 weeks 0 days as dated by LMP using a due date of 04/25/17. This was consistent with her 1st ultrasound in your office that measured just slightly ahead with a due date of 04/18/17. She is AMA. She had a quad screen in your office that returned screen positive with an increased risk of Down syndrome of 1:100. This is close to what her age based risk would be. Open neural tube defect was screen negative. In reviewing her analytes, AFP was slightly elevated at 2.15 MoM and inhibin was borderline at 1.87 MoM. She was diagnosed with chronic HTN fairly early in her last pregnancy. She did not have preeclampsia with that pregnancy to her knowledge. The baby was quite small, as it weighed just over 4 lb at term. She was not on BP medication chronically, but coming into this pregnancy at 19 weeks her BP was elevated at 162/90 and she was started on labetalol. I cannot tell in the records if she had protein in her urine but she did have 2+ on her dip in our office today. She reports that she has collected a 24-hr urine last week, although we do not have those results. Because she entered care late, she is not on baby aspirin for the prevention of preeclampsia.

When such a condition is detected, or highly suspected, what then? According to Farrell et al., (2014) physicians are most concerned with the ethical issue of pregnancy termination. In the case of Down Syndrome, this is with good cause. A systemic review by Natoli, Ackerman, McDermott and Edwards (2012) found a weighted mean termination rate following a prenatal diagnosis of Down syndrome was 67%, with a range of 61% - 93%. The evidence they presented suggested that termination rates varied according to maternal age, race, and gestational age. (These variances alone open another ethical can of worms). But one can see, after only brief examination of this one genetic screen, why physicians, and society in general, should be concerned. There is no concensus regarding whether or not pregnancy termination is ethical in and of itself, let alone when one decides to terminate due to knowledge of specific genetic markers or

Down syndrome was named after John Langdon Down, who was the first person to discover Down syndrome. In the earlier years it was called Mongolism, which is no longer used because it is offensive to the Mongolians. James N. Parker and Philip M. Parker state “Down syndrome is a chromosomal disorder caused by an error in cell division that results in the presence of an additional third chromosome 21 or ‘trisomy 21’” (10). There are different types of Down Syndrome according to the National Down Syndrome Society (NDSS), there is Trisomy 21, Mosaicism, and Translocation (What is Down syndrome?). There is no way to prevent having a baby with Down syndrome although chances increase as the woman gets older. The NDSS says, “A 35-year-old woman has about a 1 in 350 chance of conceiving a child with Down syndrome, and this chance increases gradually to 1 in 100 by age 40” (What is Down syndrome?). Although the risk is greater for older women, it is still possible to have a child with Down syndrome at a younger age.