Pennsylvania, United States
|Mary Cassatt, Mother Combing Sara’s Hair, 1901.
Private collection. Web Gallery of Impressionism
“I am so sorry.” My youngest sister, Annie, was born during the spring semester of my first year of high school. These four words are etched into my memory, integrally intertwined with the events of that spring. “I am so sorry.”
I remember these words so clearly because they clashed dramatically with my own experience of my baby sister, and constituted my first exposure to the perception that her life might somehow be a tragedy, not a gift. I remember wondering, in a moment of naiveté, why this person had attempted to offer consolation. After all, nothing terrible had occurred. Annie had been born without complications and in good health. She was a beautiful baby. She had come into the world with only one significant medical challenge: Down syndrome.
This attempt at consolation was my first direct encounter with the common conception that the birth of a child with Down syndrome is somehow tragic, or at least unfortunate. I realized, for the first time but not the last, that many people see my sister’s life primarily as an instance of Down syndrome, rather than as a life with intrinsic worth, a life to be celebrated.
My sister Annie certainly has faced many challenges, but her life has nevertheless been one of happiness and love. Annie lives in a whirlwind of exuberance, stubbornness, compassion, laughter, love, and joy. In only six years, she has left an impression that would be impossible to summarize. I can only say that my sister is happy, and she has brought happiness and love to my family in a way that we could never have imagined. Her condition has not defined her. Annie might not live a “perfect” life, but she lives her life perfectly as a beautiful and unique individual. Like all lives, hers is one of great potential, and of great worth.
The greatest challenge that I have faced since Annie’s birth has not been caused by her medical condition, but rather by the great, unspoken stigma associated with Down syndrome. Medical conditions are not unique to Down syndrome. Many children face medical challenges, and overcome them. My sister has been no different, and, although it has not been easy to see her struggle, Annie’s medical history has been, on the whole, a remarkable journey. Yet many people still assume that my sister’s life is characterized by suffering. They fail to see that her life is so much more than a genetic condition, or that she is so much more than Down syndrome. It has been difficult to face the inevitable medical challenges, but it has been almost more difficult to watch her face the unnecessary social stigma.
“Acceptance” has become the professed aspiration of the twenty-first century, and people with Down syndrome have benefited in many ways from this movement. Over the last few decades, people with Down syndrome have been integrated into mainstream school systems, invited into recreational extracurricular activities, welcomed into the workforce, and, in general, treated as peers and as persons.1 In 2009, the “Spread the Word to end the Word” campaign began to decry the widespread use of the word “retarded” as derogatory slang.2 In 2015, Madeline Stuart became the first professional model with Down syndrome to walk the runway during New York Fashion Week.3 In 2016, A&E introduced the reality TV show Born This Way, which focuses on the lives of seven people with Down syndrome.4 Recently, Lucas Warren, a one-year-old boy with Down syndrome, made national headlines when he was identified as the new Gerber Baby.5 These different developments, and many others, seem to all indicate a social acceptance of people with Down syndrome.
However, although society professes an acceptance of those with Down syndrome, the current culture is actually, in many ways, still colored by stigmatization. In 2002, Jain et. al. published a study in the American Journal of Perinatology that described the significant social stigma associated with Down syndrome.6 In 2014, a quantitative study in the United Kingdom found that this stigma is still present, and concluded that “children with Down syndrome may be more aware of their disability and how Down syndrome is viewed socially than has been appreciated.”7
As a medical student, I have found that this stigma is often perpetrated by those in healthcare, but is often motivated by ignorance or a desire to be empathetic, rather than any intention to belittle my sister or others with Down syndrome. When I told another medical student that my sister has Down syndrome, her response echoed the words of my friend so many years ago: “Oh, I’m so sorry.” I could tell by her demeanor, tone, and heartfelt look in her eyes that she was trying earnestly to empathize. She had the best intentions, but was assuming a tragedy that simply is not there. This time, I knew how to respond: “Don’t be.”
|Mary Cassatt, A Kiss for Baby Anne, 1897. Private collection. “Mary Cassatt (1845-1926).” Web Gallery of Impressionism,|
Perhaps the most telling indication of this persistent stigma among healthcare professionals is the widespread normalization of prenatal screening and subsequent counseling that often leads to termination. A systematic literature review that analyzed data drawn from twenty separate studies within several different countries showed that, on average, the termination rate for children with Down syndrome is 92%.8 Iceland has reached a nearly complete termination rate following a prenatal diagnosis of Down syndrome; since the early 2000s when the prenatal test was first introduced, only a few children with Down syndrome have been born.9 Children with Down syndrome are disappearing from entire countries, and despite the push towards “acceptance,” no one seems to be particularly alarmed.
Physicians who provide obstetric care or who deliver the diagnosis have a unique ability to shape the impression that the diagnosis may have on parents, and to talk with them from the beginning, perhaps in the moments they feel most vulnerable.
Yet many physicians, perhaps motivated by the assumption that children with Down syndrome will suffer, seem to perpetrate outdated stereotypes and pressure parents towards termination. A study released in 2004 from Harvard Medical School found that the majority of expectant mothers who received a prenatal diagnosis of Down syndrome were frustrated with the manner in which it was delivered. About half of the women in this study report feeling “rushed or pressured” when deciding whether or not to keep the pregnancy.10 Another study found that negative experiences outnumbered positive experiences 2.5 to 1, with participants citing a variety of negative factors, such as an insistence on termination, a lack of compassion, and the incorporation of negative stereotypes of Down syndrome, especially since there seemed to be no evidence for the stereotypes presented.11 Both of these studies illustrate the significant pressure that a physician is able to introduce, and demonstrate the impression that such pressure has on parents.
The prevalent misconceptions that inevitably lead to the stigmatization of those with Down syndrome ought to be corrected, and certainly should not be perpetrated by those in medicine. Of course, my experience with my sister is not representative of the experience that every family will have with their child or sibling with Down syndrome. Every child, and every family, is unique. Down syndrome does not change that. It is, therefore, especially incumbent upon medical professionals and those who counsel parents to educate themselves with the most current literature regarding those with Down syndrome, and also – especially – to educate themselves by listening to families and taking seriously their lived experiences.
When you encounter a person with Down syndrome, whether it is in your medical practice or at your child’s soccer practice, do not say – or think – “I am so sorry.” Do not impulsively attempt to empathize. Instead, listen. Listen to the person with Down syndrome and to their families. The value or quality of a life cannot be predicted by the presence of an extra twenty-first chromosome. People with Down syndrome and their families are acutely aware of stigmatization, and those of us in the medical profession are in a unique position to combat these outdated stereotypes, and to promote true acceptance.
Rather than saying “I am so sorry,” instead ask yourself, with deep sincerity, “What sort of society do I want to live in? What kind of society do I want to promote?”
Does my sister have a place in the society that you imagined?
- Mandal, Ananya. “Down Syndrome in Society.” News Medical Life Sciences, 26 May 2014, www.news-medical.net/health/Down-Syndrome-in-Society.aspx.
- “R-Word | Spread the Word to End the Word.” R-Word Main, The Joseph P. Kennedy Jr. Foundation for the Benefit of Persons with Intellectual Disabilities, 2017, www.r-word.org/r-word-history-campaign.aspx.
- “Madeline’s Story.” Madeline Stuart Model, Madeline Stuart Management Pty Ltd, 2017, www.madelinestuartmodel.com/.
- Murray, Jonathan, and Laura Korkoian. Born This Way, A&E, 2015. <https://www.aetv.com/shows/born-this-way>
- Diaz, Andrea. “For the First Time in Its History, the Gerber Spokesbaby Is a Child with Down Syndrome.” Cable News Network, 8 Feb. 2018, www.cnn.com/2018/02/07/health/first-gerber-baby-down-syndrome-trnd/index.html.
- Jain, Renu, et al. “Down Syndrome: Still a Social Stigma.” American Journal of Perinatology, vol. 19, no. 2, 2002, pp. 099–108., doi:10.1055/s-2002-23553.
- Deakin,, Karen Anne. “Perceptions of Down Syndrome: A Growing Awareness? Investigating the Views of Children and Young People with Down Syndrome, Their Non-Disabled Peers and Mothers.” University of Glasgow, 2014, theses.gla.ac.uk/5700/.
- Mansfield, C; Hopfer, S; Marteau, TM (Sep 1999). “Termination rates after prenatal diagnosis of Down syndrome, spina bifida, anencephaly, and Turner and Klinefelter syndromes: a systematic literature review. European Concerted Action: DADA (Decision-making After the Diagnosis of a fetal Abnormality)”. Prenatal diagnosis. 19 (9): 808–12. doi:10.1002/(sici)1097-0223(199909)19:9<808::aid-pd637>3.0.co;2-b. PMID 10521836.
- Boyd, Pa, et al. “Survey of Prenatal Screening Policies in Europe for Structural Malformations and Chromosome Anomalies, and Their Impact on Detection and Termination Rates for Neural Tube Defects and Down Syndrome.” BJOG: An International Journal of Obstetrics and Gynaecology, vol. 115, no. 6, 2008, pp. 689–696., doi:10.1111/j.1471-0528.2008.01700.x. https://www.ncbi.nlm.nih.gov/pubmed/18410651
- Skotko, Brian G. “Prenatally Diagnosed Down Syndrome: Mothers Who Continued Their Pregnancies Evaluate Their Health Care Providers.” American Journal of Obstetrics and Gynecology, vol. 192, no. 3, 2005, pp. 670–677., doi:10.1016/j.ajog.2004.11.001.
- Dixon, Darrin. “Informed Consent or Institutionalized Eugenics? How the Medical Profession Encourages Abortion of Fetuses With Down Syndrome.” HeinOnline, 12 Sept. 2008.
JEANNE FARNAN is a first year medical student at the Perelman School of Medicine at the University of Pennsylvania with an interest in pediatrics and the medical care of those with Down syndrome. She is also concurrently pursuing a Masters of Bioethics at the University of Pennsylvania. Jeanne graduated from the University of Notre Dame in May magna cum laude with a double major in Honors Philosophy and Science Pre-professional Studies.