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Down Syndrome: A Death Sentence?

By Emma Barrett

Published: July 31, 2021

A boy with down syndrome smiling up at his father with their foreheads pressed together

As I entered the hospital, my chest tightened. I marched down the long white hallway, flanked on either side by my grandparents and two younger sisters, and braced myself for what was ahead. My eyes were puffy, but I was determined that I was not going to cry again. Instead, I plastered a smile on my face and entered the Neonatal Intensive Care Unit (NICU), ready to meet my baby brother.

Immediately following his birth, Benjamin had been transferred to the NICU. Instead of the anticipated joy and excitement, his birth had brought me and my family worry and confusion. That week, I saw my dad cry for the first time. I did not see my mom at all. I was desperate to know what was going on and I hungrily latched onto whatever information my grandparents could tell me, which was not much. Slowly, I pieced what I could together. I learned that Benjamin had a hole in his heart and that he needed surgery. I learned that he could not breathe on his own and that he needed an oxygen tank to perform even this most basic function. Finally, I learned that Benjamin had Down syndrome.

When my grandma told me this, I sprinted up the stairs and into my room. I then collapsed onto my bedroom floor and, surrounded by piles of laundry, broke down in tears. I had no idea what Down syndrome was, but it didn’t sound good. And if this week was any indication, it was bad. It sounded painful and hard. I thought that it meant my baby brother wasn’t normal.

My reaction to my brother’s diagnosis, which could be dismissed as an overblown response from a fifth grade drama queen, is, in fact, not uncommon. In a study examining the social stigma surrounding Down syndrome, Dr. Renu Jain, from the Department of Pediatrics and Medical Humanities at the Loyola University Medical Center, found feelings of anger and grief to be very common among families who have just learned their infant has Down syndrome. In fact, Dr. Jain found that “upon the diagnosis of a [Down syndrome] fetus or infant, the parents go through a mourning process no less severe than the mourning of a death of an infant” (Jain). Parents who find out the diagnosis of Down syndrome before birth, through prenatal testing, terminate the pregnancy at a rate of 92%, an exceptionally high rate that is significantly higher than if the parents had learned of a physical disability (Lawson). These findings point to a very bleak view of the life of a person with Down syndrome. They suggest that the diagnosis of Down syndrome is comparable to death, that an individual with Down syndrome cannot live a good life, that this individual is inherently less than another without the same disability.

In a stark contrast to these views, a survey conducted by Dr. Brian G. Sokto, a doctor in the Division of Genetics at the Children’s Hospital in Boston, Massachusetts, found that individuals with Down syndrome report that “they are living happy and fulfilling lives” (Skotko). In a similar study, Melissa Scott, a researcher in the School of Exercise and Health Sciences at the Edith Cowan University, found that individuals with Down syndrome have a positive perspective on life and hold the general consensus “I have a good life” (Scott). They have desires similar to their peers, “including the rights to the same life opportunities” (Scott). They “like who they are and how they look” (Skotko). They love their families. This data points to a very different view of life than suggested earlier. What is the reason for this contradiction? If individuals with Down syndrome say that they have good lives, why are their voices not heard? Why is there such a strong prevailing social stigma against them?

Many researchers in this field suggest that this strong social stigma is, in part, a result of the lack of public knowledge and awareness of Down syndrome. Many people have never met or interacted with an individual with Down syndrome. Some do not know what Down syndrome is. Before my brother was born, I did not either.

Down syndrome is “a genetic disorder caused when abnormal cell division results in an extra full or partial copy of chromosome 21” (Mayo Clinic). The average human has 46 chromosomes, while those with Down syndrome have 47. This extra chromosome can cause both developmental and physical changes. In the United States, the Center for Disease Control estimates that there are 6,000 children born with Down Syndrome each year, making it the most commonly occurring chromosomal disability and learning disability.

While all individuals with Down syndrome have an extra chromosome 21 and share many of the same physical characteristics, Down syndrome does not affect all individuals in the same way. As the Mayo Clinic states, “Each person with Down syndrome is an individual — intellectual and developmental problems may be mild, moderate or severe” (Mayo Clinic). Down syndrome does not mean the same thing for every person.

In fact, many of the qualities previously associated with Down syndrome are no longer connected to the disability. In recent years, many of the perceived attributes of Down syndrome were found to be situational, rather than a result of the disability itself. As recently as 1980, the life expectancy for a person with Down syndrome was just 28 years (Global Down Syndrome Foundation). At this time, many individuals with Down syndrome were institutionalized and denied access to proper medical care and education. This institutionalization put individuals in an environment that facilitated “the rapid spread of infections between patients” (Bittles). Thus, poor health came hand in hand with Down syndrome, but sometimes as a result of the environment individuals were in, or their lack of access to even basic medical care.

Today, those with Down syndrome are not forcibly institutionalized. The life expectancy of an individual with Down syndrome is 60 years old, with some people living to their 80s and 90s. The medical community has made huge strides in addressing and treating some of the more negative effects of Down syndrome. There are now integrated school programs in which individuals with Down syndrome are able to attend school and learn alongside other children their age. There are better resources in place, especially for young children, to ensure they are cared for and stimulated in their early years (Jain). Maternal and familial support groups can be found in almost every area of the country, offering a fountain of encouragement, support, and advice for new families. In the United States, there are governmental financial entitlements available to families with a member who has Down syndrome. The diagnosis of Down syndrome is no longer a sentence to a short life with many barriers to success.

When my brother was born, I was unaware of all of this. All that was staring me in the face was the inside of the NICU. All I could hear was the puffing of the oxygen tank Benjamin had to be connected to at all times. My family, however, was surrounded by support. The doctors and nurses at the hospital were unwavering in their care and encouragement. Families who had children with Down syndrome reached out to us and shared their stories. This network of people assured us that everything was going to be more than okay, that it was going to be good.

The support we received, however, has not been found to be a shared experience. Families with members who have Down syndrome “have consistently reported that the initial information received from their healthcare providers was often inaccurate, incomplete, or offensive'' (Sokto). In medical literature, professionals tend “to present negative reports of Down syndrome” (Alderson). While these attitudes are not common to all medical professionals, those that do exist can spread misinformation and further stigmatize the disability.

Dr. Jain argues that “it is time for professionals to move from the medical to the psycho-educational field” (Jain). He says that “health professionals have the responsibility to help make public attitudes more accepting of [Down syndrome]” (Jain). If doctors are to do so, they must start with their own perceptions of Down syndrome first. A diagnosis of Down syndrome does not have to be something that is mourned. As seen in the move from institutionalization in the 1980s to today, the assistance of medical professionals has been crucial in improving the quality of life of those with Down syndrome. A shift in medical attitude can make a world of difference in countless lives. One key way this shift can occur, which is surprisingly lacking in both the medical field and wider literature, is hearing from the voices of people with Down syndrome themselves.

On finding out that a child has Down syndrome, questions that first come are ones such as, “What does it mean to have [Down syndrome]? Will my baby with [Down syndrome] be happy? Will my baby have a good life?” (Skotko). These are questions that can be best answered by individuals with Down syndrome themselves. And, as noted earlier, the response is a resounding “Yes.” Yes, they can be happy. Yes, they can have a good life.

In a moving speech to the United States Senate on Capitol Hill, Frank Stephens, a man with Down syndrome, petitioned for more research concerning Down syndrome. This speech came in response to the recent shift away from research into Down syndrome and advancements that can improve them, to research in how to detect and prevent Down syndrome, primarily through termination. Stephens addressed the Senate saying, “I am a man with Down Syndrome and my life is worth living.” He went on to say that not only was his life worth living, but that “we are an unusually powerful source of happiness: a Harvard-based study has discovered that people with Down Syndrome, as well as their parents and siblings, are happier than society at large. Surely happiness is worth something?” He asked the Senate for “answers, not ‘final solutions.’”

Stephens’s words mirrored those of other individuals with Down syndrome and their families on their happiness. In Skotko’s study, when individuals were asked, “What would you like to tell doctors about your life with Down syndrome?”, the top two responses were “Life is good/I’m happy to be alive/positive” and “Please take care of our medical needs.” These two appeals cut to the heart of the matter. Down syndrome is not a death sentence. Those with Down syndrome can live a happy and fulfilling life; their disability does not undercut this. Their medical needs should have as much of a voice as anyone else’s. They, too, deserve supportive doctors who want to help. They deserve doctors who do not see their lives as less. This recognition is the start of changing the social stigma against Down syndrome.

Another frequent response to Skotko’s survey was the simple statement that “It’s okay to have special needs.” These individuals who responded embraced what society as a whole has yet been unable to, the message that it’s okay to be different. As Rhonda Faragher, a professor at the School of Education at The University of Queensland puts it, “Those of us in the disability sector...have learned to value human diversity.” Different doesn't mean unhappy. Different doesn't mean better off dead.

Many of those with Down syndrome do not factor ability into their happiness. Skotko found in his study that different functional abilities in fact had no bearing on self-esteem and reported happiness. In her study, Scott found that in their descriptions of their lives, not one of the individuals mentioned “impairments of body functions and structures.” Instead, in both groups, individuals pointed to struggles and hopes very similar to those of their peers. Some of these included the desire for independence, a relationship, and education.

In interviews with parents, researchers have found that their perceptions of their child with Down syndrome change over time as well. By spending time with the child and interacting, many parents found their initial perception to change completely. Lawson and Walls-Ingram, two researchers at the University of Saskatchewan, conducted a study in which they found that “personal contact with individuals with [Down syndrome] was associated with more favorable attitudes toward [Down syndrome].” The more time and awareness that is devoted towards looking at people with Down syndrome as just that, people, not as problems, can disprove many of the stereotypes and misconceptions surrounding the disability.

In one month, Benjamin will turn eight years old. He is enrolled in a nearby public school’s special ed program and is close to completing second grade. He loves swimming, drawing, and Taylor Swift. He is also one of the happiest kids I know. His birth did change my life, but not in the ways that I thought it would. For me, Benjamin has been a constant source of joy and love.

This is not to say that Benjamin has not presented a set of difficulties; he has, just like all my other siblings. His are of a different variety and are sometimes more extreme. Through all of this, however, I have never questioned if his life is worth living, worth as much as mine, or if he is happy. The answers to these questions are all the same. Yes, of course. If I could tell my fifth grade self anything, it would be that Benjamin is an unbelievable gift, from top to bottom. There is no need for worry or fear.

Works Cited

Alderson, Priscilla. “Down's Syndrome: Cost, Quality and Value of Life.” Social Science & Medicine , vol. 53, no. 5, Elsevier Ltd, 2001, pp. 627–38, doi:10.1016/S0277-9536(00)00365-8.

Bittles, Ah, and Ej Glasson. “Clinical, Social, and Ethical Implications of Changing Life Expectancy in Down Syndrome.” Developmental Medicine & Child Neurology , vol. 46, no. 04, 2004, doi:10.1017/s0012162204000441.

“Down Syndrome.” Mayo Clinic , Mayo Foundation for Medical Education and Research, 8 Mar. 2018, www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977.

Faragher, Rhonda. “Research in the Field of Down Syndrome: Impact, Continuing Need, and Possible Risks from the New Eugenics.” Journal of Policy and Practice in Intellectual Disabilities , vol. 16, no. 2, John Wiley & Sons, Inc., 2019, pp. 130–33, doi:10.1111/jppi.12305.

Friedersdorf, Conor. “'I Am a Man With Down Syndrome and My Life Is Worth Living'.” The Atlantic , Atlantic Media Company, 31 Oct. 2017. https://www.theatlantic.com/po...

Jain, Renu C., et al. “Down Syndrome: Still a Social Stigma.” American Journal of Perinatology , vol. 19, no. 2, Copyright © 2002 by Thieme Medical Publishers, Inc., 333 Seventh Avenue, New York, NY 10001, USA. Tel.: +1(212) 584-4662, 2002, pp. 099–108, doi:10.1055/s-2002-23553.

Scott, Melissa, et al. “"I Have a Good Life": The Meaning of Well-Being from the Perspective of Young Adults with Down Syndrome.” Disability and Rehabilitation , vol. 36, no. 15, Taylor & Francis, 2014, pp. 1290–98, doi:10.3109/09638288.2013.854843.

Skotko, Brian G., et al. “Self-Perceptions from People with Down Syndrome.” American Journal of Medical Genetics. Part A , vol. 155, no. 10, 2011, pp. 2360–69, doi:10.1002/ajmg.a.34235.

“What Is Down Syndrome?: National Down Syndrome Society.” NDSS , National Down Syndrome Society, www.ndss.org/about-down-syndrome/down-syndrome/.

Take a look at the fourth paragraph. How does Barrett transition from her personal narrative to an academic source?

What academic sources does Barrett use to offer the point of view of people with Down syndrome? At what points in the essay does Barrett use academic sources to build her credibility and authority to speak beyond her own first-person experience?

What are the author’s inquiry questions, and where does they first appear in the essay? In a few sentences, how would you summarize the author’s answer to her inquiry questions?

What did you learn from reading this essay?

What seems to be the author’s purpose in writing this essay? What audience(s) does the author seem to want to address?

Emma Barrett

Emma Barrett is a current sophomore majoring in the Program of Liberal Studies with minors in Business Economics and Constitutional Studies. She is originally from South Bend, Indiana, and is the oldest of seven. In her essay "Down Syndrome: A Death Sentence?" Emma sought to answer questions that arose for her after her youngest brother was diagnosed with Down Syndrome. She would like to thank Professor Joanna Want for her help and guidance in this essay.

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The Causes and Physical and Mental Effects of Down Syndrome

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Down Syndrome - Essay Examples And Topic Ideas For Free

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Free Down Syndrome Essay Sample

Down syndrome refers to a genetic disorder caused by an additional 21 st chromosome. John Langdon Down described the condition hence named after him. Statistical studies about downs syndrome reveal that it affects 1 of 800 live births and this is the major causative factor for cognitive impairment. Children having mild to moderate learning disabilities, low muscle tone, distinctive facial characteristics and growth retardation are most likely suffering from the disorder. Individuals with Down syndrome also suffer from leukemia, Alzheimer’s disease, heart defects and gastrointestinal problems. Down syndrome’s indicators range from mild to severe. Formerly, individuals affected by Down syndrome have a shorter life expectancy compared to the current life expectancy which is averagely 55 years. This paper discusses the aspects of Down syndrome.

The characteristics of Down syndrome are linked to genes present in the additional copy of chromosome 21. A normal human cell contains 23 pairs of varying chromosomes and every chromosome has its own genetic materials. The genetic materials are necessary for maintenance and development of the human body. During conception, both parents contribute 23 chromosomes. Unfortunately, one can inherit an extra chromosome from mother or father. Frequently, individuals inherit two copies of chromosome 21 from the mother and one copy from the father. The inheritance of the three chromosomes 21 causes Down Syndrome, and that is why it is also known as trisomy 21. An estimation of about 95 per cent of children and adults affected by this disorder has the whole chromosome 21.

Apparently, scientists have not clarified how the extra genes on chromosome 21 cause Down syndrome. However, they believe that the additional genes interrupt the relations between the actual genes of the chromosome 21 and other genes. As a result, the activity of some genes will be more than usual or below the usual. The severity of the condition depends on the types and number of extra genes inherited by an individual. Various scientific studies are attempting to identify the specific gene or genes from chromosome 21, present in the three copies inherited from parents, which causes Down syndrome. Presently, approximately 400 chromosome 21 genes have been recognized, but their functionality is still a mystery. Human and animal studies are also playing a critical role in understanding the functions of the identified genes.

Maternal age is a risk factor for conceiving a child affected with Down Syndrome. The older the mother is at the time of conception, the greater the vulnerability of conceiving a child suffering from Down syndrome. For mothers at 25 years, 1 in every 1250 conceives a child with Down syndrome and for mothers at 45 years, 1 in every 30 conceives a child with Down syndrome. This affirms that the older the mother, the higher rate of exposure. A risk of 1 per cent also exists for parents who have conceived a child having Down syndrome. Parents who are carriers of chromosome 21 translocation have the highest risk of 100 per cent of conceiving a child with Down syndrome.

Many individuals with Down syndrome have identifiable physical symptoms, though these symptoms depend on the severity. Some of the features include flattened nose and face, small mouth and occasionally long tongue, small ears, short neck and slanting eyes having small skin folds. People with Down syndrome also have white spots on the iris. They have short and broad hands with short fingers. Presently, various prenatal screening tests, such as alpha-fetoprotein (AFP) and nuchal translucenc, are available for Down syndrome. AFP involves measuring the three hormones namely unconjugated estriol, inhibin-A and chorionic gonadotropin in the mother's blood, from which the disease can be detected.

In conclusion, Down syndrome is a genetic disorder caused by an additional twenty first chromosome. The disorder affects 1 of 800 live births and the dominating causative factor for cognitive impairment. The symptoms of Down syndrome are linked to genes present in the additional copy of chromosome 21. Maternal age and previous conceptions of children affected by Down syndrome are risk factors for conceiving a child with the disorder.

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Down Syndrome, Essay Example

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Down syndrome is alternatively known to be a chromosomal condition which associates directly with intellectual disability (Epstein, 2006). The Disorder carries with it poor muscle tone in infancy and a characteristic facial appearance (Dykens, 2007). Patients suffering the disorder, however, have varying degrees of intellectual disability. Medical practitioners, however, classify the levels of Intellect as either being mild or moderate in a patient suffering the disorder (Epstein, 2006). Normally, people born with Down syndrome suffer a number of birth defects (Dykens, 2007). Statistics indicate that almost past half of all children born with this genetic disorder suffer a heart defect (Dykens, 2007). Among other abnormalities common in children with this disorder are digestive abnormalities, in which the medical practitioners describe as a blockage to the intestine (Epstein, 2006). However, these abnormalities are not exceedingly common.

Conversely, Individuals suffering this genetic disorder have an increased risk of suffering other medical conditions which develop to the extremes (Dykens, 2007). The conditions most common include gastro esophageal reflux, described as an acidic stomach contents backflow into the esophagus, and other serious cases of celiac disease, described as an intolerance of a wheat protein normally referred to as gluten (Epstein, 2006).

Most cases of this genetic disorder result from Trisomy 21, meaning that each human cell in the body develops three copies of direct chromosome 21 and not the usual two copies (Dykens, 2007). The extra generated chromosome is descried as a genetic material which causes disruptions of the normal course of growth and development, and thus resulting to characteristic features of this genetic disorder referred to as Down syndrome (Epstein, 2006). As opposed to many arguments, Down syndrome is not inherited but rather a biological genetic disorder (Dykens, 2007).

Dykens, E. (2007). Psychiatric and behavioral disorders in persons with Down syndrome. Mental Retardation and Developmental Disabilities Research Reviews, 13 (3): 272–8.

Epstein, C. (2006). Down’s syndrome: critical genes in a critical region. Nature , 441 (7093): 582–3.

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Down Syndrome Essay Examples

The overview of down syndrome disease.

Cause of Down syndrome is genetics. Any genetic disorder in chromosomes may emerge during pregnancy. This can be observed even if the family has no history of Down syndrome before. As an example, an ordinary mother may have a baby with Down syndrome with a...

Inclusion: Primary Schools that Includes Children with Down Syndrome

In very cell in the human body there is a nucleus. In the nucleus our genetic material is stored in our genes, which carry all the information responsible for our traits inherited from our parents. They are grouped in rod like structures and are called...

Down Syndrome: a Different Development

The word “retarded” has been used in many ways throughout this society. Once said out loud, people don’t understand how offensive it is to others. We all may know a couple of affected individuals, therefore, this word should not be in use by those who...

The Impact of Down Syndrome on the Individual and Their Family

This paper explores seven published articles that report on the psychological and sociological impact of Down syndrome for the individual and their family. Parents discuss the many familial effects of having a child born with Down syndrome. Most parents report having a child with Down...

An Overview of Common Genetic Disorders

Genetic testing has been a popular trend lately due to the success of websites such as 23andMe, Ancestry, and many others; and the amount of information these testing services can provide by a simple swab or mouth rinse is amazing. While some use these services...

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