Down syndrome, also known as Trisomy 21, is a naturally occurring condition in which a person has three copies of the 21st chromosome rather than two copies. It is the most commonly occurring genetic mutation, and the one most frequently diagnosed prenatally. It has no known cause. Although medical research is proceeding, no treatments have yet been developed to improve cognition in people with DS. It is estimated that 350,000 Americans have Down syndrome. In the United States, between 85 and 90 percent of prenatally diagnosed cases of Down syndrome end in abortion.

People with Down syndrome have historically faced discrimination and exclusion, and were regularly institutionalized, imprisoned and involuntarily sterilized well into the 20th century. Until the 1970s, they were routinely denied access to education. They still lack appropriate health care and housing in many cases.

Educational access is now protected by law, and as a consequence people with Down syndrome are increasingly completing high school, embarking on post-secondary study, and living and working semi-independently. Many of the characteristics that were once thought to be endemic to Down syndrome now seem to have been caused by institutionalization and social ostracism.

All of them have unique personalities and interests, as their family members can tell you. Recent studies report that families of people with Down syndrome are affected more positively than negatively. Waiting lists of families wishing to adopt children with Down syndrome are now being reported. (See Lindh, Heidi L., et al., “Characteristics and perspectives of families waiting to adopt a child with Down Syndrome,” Genetics in Medicine, April, 2007.)

Down syndrome is characterized by developmental delays that are most often mild to moderate, but occasionally can be more severe. It is impossible to predict the extent of these delays based on prenatal diagnosis or observation of other physical symptoms. People with Down syndrome are at a heightened risk of heart problems, most of them surgically correctible, as well as early onset Alzheimer’s disease and leukemia. They often have recognizable facial characteristics, most notably the epicanthal fold of the upper eyelid that is also common in people of Asian descent.

Historically, the condition now known as Down syndrome was wrongly believed to be a racial degeneration, perhaps caused by disease or alcoholism in the mother. In Victorian England the disorder was labeled “mongolism” by doctor John Langdon Down, reflecting the popular Victorian belief that Mongolians were a lower form of human.

The genetic basis of the condition was discovered by Dr. Jerome Lejeune in Paris in 1959. Dr. Lejeune campaigned unsuccessfully against the use of his discovery for the purpose of prenatal screening and abortion, and called for ongoing scientific research into possible treatments for people with DS. In the years since, prenatal screening and abortion have flourished, while funding for research to treat the cognitive symptoms of people with DS has been meager.

In the 1960s, the British medical journal the Lancet recommended that the name “mongolism” be dropped after receiving a letter from leading geneticists charging that the name was “misleading” and had “embarrassing” connotations. Subsequently, the World Health Organization dropped references to the term “mongolism” after receiving a complaint from a Mongolian delegate.

While considered offensive, the term is still in use among some medical professionals and appears in some medical texts as well as in the online prenatal guide of Harvard’s Brigham and Women’s Hospital. “Down syndrome” is the accepted term among professionals in the United States. In France, it is called “Trisomy 21.”

Prenatal testing is making your right to abort a disabled child more like ‘your duty’ to abort a disabled child.

By Patricia E. Bauer

The Washington Post

Tuesday, October 18, 2005; Page A25

SANTA MONICA, Calif. — If it’s unacceptable for William Bennett to link abortion even conversationally with a whole class of people (and, of course, it is), why then do we as a society view abortion as justified and unremarkable in the case of another class of people: children with disabilities?

I have struggled with this question almost since our daughter Margaret was born, since she opened her big blue eyes and we got our first inkling that there was a full-fledged person behind them.

Whenever I am out with Margaret, I’m conscious that she represents a group whose ranks are shrinking because of the wide availability of prenatal testing and abortion. I don’t know how many pregnancies are terminated because of prenatal diagnoses of Down syndrome, but some studies estimate 80 to 90 percent of those diagnosed prenatally.

Imagine. As Margaret bounces through life, especially out here in the land of the perfect body, I see the way people look at her: curious, surprised, sometimes wary, occasionally disapproving or alarmed. I know that most women of childbearing age that we may encounter have judged her and her cohort, and have found their lives to be not worth living.

To them, Margaret falls into the category of avoidable human suffering. At best, a tragic mistake. At worst, a living embodiment of the pro-life movement. Less than human. A drain on society. That someone I love is regarded this way is unspeakably painful to me.

This view is probably particularly pronounced here in blue-state California, but I keep finding it everywhere, from academia on down. At a dinner party not long ago, I was seated next to the director of an Ivy League ethics program. In answer to another guest’s question, he said he believes that prospective parents have a moral obligation to undergo prenatal testing and to terminate their pregnancy to avoid bringing forth a child with a disability, because it was immoral to subject a child to the kind of suffering he or she would have to endure. (When I started to pipe up about our family’s experience, he smiled politely and turned to the lady on his left.)

Margaret does not view her life as unremitting human suffering (although she is annoyed that I haven’t bought her an iPod). She’s consumed with more important things, like the performance of the Boston Red Sox in the playoffs and the dance she’s going to this weekend. Oh sure, she wishes she could learn faster and had better math skills. So do I. But it doesn’t ruin our day, much less our lives. It’s the negative social attitudes that cause us to suffer.

Many young women, upon meeting us, have asked whether I had “the test.” I interpret the question as a get-home-free card. If I say no, they figure, that means I’m a victim of circumstance, and therefore not implicitly repudiating the decision they may make to abort if they think there are disabilities involved. If yes, then it means I’m a right-wing antiabortion nut whose choices aren’t relevant to their lives.

Either way, they win.

In ancient Greece, babies with disabilities were left out in the elements to die. We in America rely on prenatal genetic testing to make our selections in private, but the effect on society is the same.

Margaret’s old pediatrician tells me that years ago he used to have a steady stream of patients with Down syndrome. Not any more. Where did they go, I wonder. On the west side of L.A., they aren’t being born anymore, he says.

The irony is that we live in a time when medical advances are profoundly changing what it means to live with disabilities. Years ago, people with Down syndrome often were housed in institutions. Many were in poor health, had limited self-care and social skills, couldn’t read, and died young. It was thought that all their problems were unavoidable, caused by their genetic anomaly.

Now it seems clear that these people were limited at least as much by institutionalization, low expectations, lack of education and poor health care as by their DNA. Today people with Down syndrome are living much longer and healthier lives than they did even 20 years ago. Buoyed by the educational reforms of the past quarter-century, they are increasingly finishing high school, living more independently and holding jobs.

That’s the rational pitch; here’s the emotional one. Margaret is a person and a member of our family. She has my husband’s eyes, my hair and my mother-in-law’s sense of humor. We love and admire her because of who she is — feisty and zesty and full of life — not in spite of it. She enriches our lives. If we might not have chosen to welcome her into our family, given the choice, then that is a statement more about our ignorance than about her inherent worth.

What I don’t understand is how we as a society can tacitly write off a whole group of people as having no value. I’d like to think that it’s time to put that particular piece of baggage on the table and talk about it, but I’m not optimistic. People want what they want: a perfect baby, a perfect life. To which I say: Good luck. Or maybe, dream on.

And here’s one more piece of un-discussable baggage: This question is a small but nonetheless significant part of what’s driving the abortion discussion in this country. I have to think that there are many pro-choicers who, while paying obeisance to the rights of people with disabilities, want at the same time to preserve their right to ensure that no one with disabilities will be born into their own families.

The abortion debate is not just about a woman’s right to choose whether to have a baby; it’s also about a woman’s right to choose which baby she wants to have.

Here’s a pleasant surprise — a story from the New York Times about disability that tells the tale with the nuance it deserves. No heroes, no victims, no crocodile tears. It’s the story of South Africa’s Oscar Pistorius, a paralympics athlete who wants to compete in the Olympics. He’s an amputee, and uses carbon fiber blades instead of feet to tear up the track.

A quote:

” … Pistorius is also a searing talent who has begun erasing the lines between abled and disabled, raising philosophical questions: What should an athlete look like? Where should limits be placed on technology to balance fair play with the right to compete? Would the nature of sport be altered if athletes using artificial limbs could run faster or jump higher than the best athletes using their natural limbs?”

The story uses the lens of disability to broaden the discussion about the perpetual pursuit of athletic advantage. Performance enhancing drugs, adaptive devices, and even self-mutilation get consideration here. The headline sums up the conundrum: “An amputee sprinter: Is he disabled or too-abled?”

Here’s an essay by my daughter Margaret, which she did for a middle school writing assignment. It was not an easy task for her, and she went through many drafts. She did research, including interviewing her pediatrician. All the opinions expressed are hers.

Margaret’s essay came to the attention of the Washington Post health section, and was printed there in September, 1999. It is available through the Post archives.

By Margaret Muller

Today I’d like to tell you about Down syndrome. My purpose for talking about this is to be able to say, “Yes, I have Down Syndrome. Sometimes I have to work harder to learn things, but in many ways I am just like everyone else.” I would like to tell people that having Down syndrome does not keep me from doing the things I need to do or want to do. I just have to work harder.

Down syndrome is a condition and not a disease. You cannot catch Down syndrome like you can catch a cold or virus. It is something you are just born with–like blond hair and blue eyes. If you have Down syndrome when you are born, you will have it your whole life.

People without Down syndrome have 46 chromosomes, which carry all the genetic information about a person, in each of their cells. People with Down syndrome have one extra chromosome. So a person with Down syndrome has a total of 47 chromosomes in each cell. Doctors and experts are not really sure what causes it, but they say it occurs in about one of every 700 babies. This happens randomly, like flipping a coin or winning the lottery.

Everyone with Down syndrome is a totally unique person. The extra chromosome makes it harder for me to learn. Sometimes I need someone to say, “Settle down and get busy!”

Even though I have one extra chromosome, the rest of my chromosomes carry information from generation to generation just like yours. Chromosomes control certain genetic characteristics, like eye color, skin color, height and some abilities like music, art or math.

For example, I get my blue eyes from my father, my fair skin and freckles from my mother, my blond hair from my grandmother, my long thin feet from both my mom and my dad, and my need to wear glasses from both my grandparents and my parents. I like to concentrate on the ways that I am like everyone else.

I am very lucky to be alive today rather than 50 years or even 20 years ago, because back then the doctors and experts believed that people with Down syndrome were not capable of learning. But now we know that people with Down syndrome are capable of doing many different things.

I personally am doing things that some people didn’t think I could do. When I was born, somebody told my mom that it was too bad that I was named “Margaret” because I would never even be able to say my name. That person might never have expected that I could win four medals in Special Olympics swimming, be a green belt in karate, cook a pizza, read a novel, run half a mile or get up in front of the class and give a speech! With a lot of hard work and encouragement, I have been able to do all these things.

I am not sad about the fact that I have Down syndrome. It is just part of me. I have a great brother (most of the time), and parents who love me a lot. I have wonderful friends who enjoy hanging out and having fun with me. I have teachers who help me keep on learning new things. I am glad to be a student at Lincoln Middle School, because it is a great school and almost everyone is really nice. Down syndrome has not stopped me from having a worthwhile life.

By PATRICIA E. BAUER

December 11, 2005

The New York Times

SANTA MONICA, Calif. — WHEN Edward Barbanell was growing up in Florida, he didn’t have a quick retort for the kids who would bully him and call him names on the playground. “I just learned to walk away from it,” said Mr. Barbanell, an actor who has Down syndrome. “They can call me what they want, but I am not a ‘tard.”

Now, he knows exactly what he would tell those kids: go see his performance in “The Ringer,” a PG-13 comedy directed by Barry Blaustein and produced by the Farrelly brothers’ Conundrum Entertainment with the active endorsement of Special Olympics. “This movie will touch people’s hearts and give them a sense of hope about what people with intellectual disabilities can do,” he said.

For Mr. Barbanell, the Dec. 23 opening of “The Ringer” would seem to represent an important moment in movie history. This film, as no major Hollywood film before, features a substantial number of actors who have intellectual disabilities. They are portraying reasonably competent, genuine characters – not the stereotypical victims, villains and heroes who have most often defined the disability experience in studio movies. And in a particularly striking turnabout, these actors with disabilities are playing comedy, inviting the audience to laugh with them, not at them.

Anxiety persists among some in the disability world that the filmmakers may have something other than their best interests at heart. They worry that the Farrellys’ signature bawdy humor, as seen in their blockbuster hits “Dumb and Dumber” and “There’s Something About Mary,” could exploit and demean people who are already stigmatized, making them again the butt of the joke.

“They’re sensitive, but they want to have it both ways, and that’s what frustrates me about them,” said Kathleen LeBesco, chairwoman of the department of communication arts at Marymount Manhattan College. She recently published a paper on the Farrellys’ “contradictions of freakery” in Disability Studies Quarterly.

But Peter Farrelly argues that America needs to understand the inherent humanity of people with intellectual disabilities, and that includes seeing them make jokes, engage in hijinks and dance close to “Full Monty”-style in the shower. “My whole point in making this movie is to make people with mental disabilities accessible, make people know who they are and feel comfortable with them,” he said during a recent interview in the brothers’ office here.

“If you don’t know someone who’s mentally challenged, and you meet them, you’re afraid of them because you don’t know what to expect,” he said. “It’s not bad. It’s just normal. But if you do know them, you’re very comfortable.”

This is obviously uncharted territory. Nobody really knows how audiences will react to seeing people with intellectual disabilities in a big-screen comedy – this is a considerable step beyond “Life Goes On,” the last decade’s Down syndrome-centered television dramedy – or whether they will show up in the first place.

Years of conditioning have taught Americans that it’s not appropriate to stare at people with intellectual disabilities, much less to laugh at them. But what if a movie goes over adults’ heads and appeals directly to teenagers?

And is it even remotely possible for these actors to pry open doors in the entertainment world so that others in their cohort may follow, as Bill (Bojangles) Robinson and Hattie McDaniel did for African-American performers in the 1930′s?

These are the kinds of questions that have been floating around ever since Peter Farrelly and his brother, Bobby, received a pitch from Ricky Blitt, a writer from television’s iconoclastic “Family Guy.” His script idea had a simple, if explosive, premise: a guy fakes a mental disability in an effort to rig the Special Olympics.

More than five years ago, 20th Century Fox agreed to bankroll the $15 million project, but only if the brothers could secure the unqualified endorsement of Special Olympics. It was not an easy process. After an initial positive response from the Special Olympics president (and now chairman), Timothy P. Shriver, the Farrellys spent a couple of years in negotiation. They pared out some situations (a strip club) and some language (that can’t be printed here). Dialogue was scrubbed. (“Mentally challenged” and “intellectual disabilities” were in. “Mentally retarded” was out, except in special circumstances.) There were arguments. During production, a Special Olympics representative stayed on the set to make sure nothing untoward slipped in.

The resulting film stars Johnny Knoxville, best known as the star of MTV’s gross and dangerous stunt series, “Jackass,” as the anti-hero. It would not be giving away too much of the plot to reveal that he is befriended by disabled athletes whom he comes to admire, and that he sternly admonishes another character who labels his new friends ” ‘tards,” a variant on the widely used playground insult “retard.”

The hope is that Mr. Knoxville’s high-octane persona will draw in the adolescent boys whom Mr. Shriver sees as susceptible to an attitude transformation. “We’re taking a risk with humor that might be edgy, and language like ‘retard’ that might be offensive,” said Mr. Shriver, who is executive producer of “The Ringer.” “I think it’s time to zing it and zap it and make it go away.”

Supporting Mr. Knoxville are five actors with intellectual disabilities in speaking roles, including Mr. Barbanell as Mr. Knoxville’s wisecracking roommate, and Leonard Flowers, a hunky Special Olympics athlete who has earned two gold medals in worldwide tennis competition and was immortalized on a Wheaties box. An additional 150 Special Olympics athletes are featured as extras, and the film includes scenes in which an out-of-shape Mr. Knoxville struggles to keep pace with them.

The soundtrack also includes some tracks from the Kids of Widney High, a band composed of students from a special education school in Los Angeles. Their big number? What else: “Respect.”

Attitude research recently conducted by the Center for Social Development and Education at the University of Massachusetts Boston underscores the band members’ implicit message: they could definitely use a little respect. A national survey of 6,000 middle school students found that young people consistently underestimate the abilities of peers who have intellectual disabilities. In addition, the survey found that 67 percent of young people surveyed would not spend time with a student with an intellectual disability if given a choice, and almost 50 percent would not sit next to one on a school bus.

These findings come 30 years after landmark federal legislation opened the schoolhouse doors to students with disabilities, granting them the right to a public education alongside their peers. Although these students have now been educated in public schools for more than a generation, are performing at higher levels than ever before and are increasingly graduating from high school, they still face substantial stigmas.

Research financed by Special Olympics suggests that negative stereotypes in movies, television and newspapers are a big part of the problem. Another recent study, financed by the Screen Actors Guild and performed by the National Arts and Disability Center at the University of California, Los Angeles, reported that people with disabilities remain “virtually invisible” in American film and television.

That is certainly not the case in the world of the Farrellys, whose comedies use disability as a paradigm to explore life’s quirkiness. Actors with real-life disabilities appear in virtually every film, both in featured and incidental roles, to the extent that it is often difficult to tell exactly who is disabled and who isn’t.

“We have used a lot of disabled people in our movies, and I’m not exactly sure why,” Peter Farrelly said. “I know one reason is I happen to know a lot of disabled people. I am amazed more people don’t.”

Among those he knows best is his childhood friend Danny Murphy. One summer day in 1974, when the two young men sailed with friends to a familiar spot in Oak Bluffs Harbor on Martha’s Vineyard, Mr. Farrelly climbed onto a piling and prepared to dive into the water. Mr. Murphy waved him off, took his place and dove in himself. He struck a hidden silt mound and broke his neck. The injury left him a quadriplegic.

YEARS later, when the first Farrelly film came out, Mr. Murphy asked sharply why it didn’t include anyone in a wheelchair. “I’ll never forget Pete’s face,” Mr. Murphy said. “It was as if I had just told him that his parents had died.”

WHEN the next movie came around, Mr. Farrelly invited Mr. Murphy to appear. In “Kingpin,” he played the bad guy who flipped the switch to chop the bowler’s hand off, and he has appeared in virtually every Farrelly film since.

Another recognizable Farrelly star is Rene Kirby, an actor with spina bifida whose self-deprecating and humorous performance provides much of the heart of “Shallow Hal.” “When I meet a guy like that, I feel so blessed to come across such a spirit,” said Mr. Farrelly, who grew up in a Roman Catholic household. “It makes you feel small. It just makes me want to put him in the movie. And it’s not just any exploitative thing. It’s not like, you know, this will be odd. It’s just that I’m impressed with a guy like that, and I want to put that spirit on-screen.”

Then there’s Ray (Rocket) Valliere in “Stuck on You,” the intellectually disabled waiter who works in the twins’ hamburger joint and provides a comic foil for the film’s stars. Scores of other people with disabilities turn up in Farrelly films where you don’t expect them, or may not even know they are there – an amputee and a woman with a mobility impairment who play casting agents in “Stuck on You,” for instance.

Of course, it is true that Farrelly films have won many laughs at the expense of high-priced actors in disability drag. In addition to “Dumb and Dumber,” think of Woody Harrelson as “Kingpin’s” handless bowler, and Jim Carrey as a man with a split personality in “Me, Myself and Irene,” a film that the National Alliance on Mental Illness accused of stigmatizing schizophrenia.

(In the Farrellys’ office, a California Media Access award recognizing the brothers’ “lifetime commitment to the advancement and inclusion of people with disabilities in the media industry” is displayed. The office, which is wheelchair accessible, also contains two life-size sculptures of the human buttocks and vestigial tail that were a key plot point in “Shallow Hal.”)

Still, Farrelly films have consistently tried to portray disabilities in a normalized and sympathetic fashion, free of inflated admiration, condescension and crocodile tears.

The conjoined twins in “Stuck on You” are a couple of sensitive, regular guys whose disability proves to be both a hindrance and a help. The main character in “Hal” learns that his true love’s disability, morbid obesity, should not keep him from appreciating her beautiful inner self. And in “Mary,” the audience is cued to assess the fundamental goodness of characters by judging how they relate to Mary’s disabled brother.

This time around, the Special Olympics’ Mr. Shriver is hoping the conundrum posed by the Farrellys’ comic touch is irreverent enough to appeal to the target teenage demographic but not so blatant as to alienate the general public or the organization’s traditional supporters. It’s a delicate balance, and the stress occasionally shows. “I haven’t gotten a lot of hate mail in this job,” he joked. “That may change.”

Patricia E. Bauer is the mother of a young woman who has Down syndrome and has participated in Special Olympics in Southern California.

By Amy Harmon in the New York Times:

Families of people with Down syndrome are working to spread public awareness, amid worries that broader prenatal testing will increase abortions of fetuses with the genetic condition.

Convinced that more couples would choose to continue their pregnancies if they better appreciated what it meant to raise a child with Down syndrome, a growing group of parents is seeking to insert their own positive perspectives into a decision often dominated by daunting medical statistics and doctors who feel obligated to describe the difficulties of life with a disabled child.

They are pressing obstetricians to send them couples who have been given a prenatal diagnosis and inviting prospective parents into their homes to meet their children. In Massachusetts, for example, volunteers in a “first call” network linking veteran parents to new ones are now offering support to couples deciding whether to continue a pregnancy.

The parent evangelists are driven by a deep-seated fear for their children’s well-being in a world where there are fewer people like them. But as prenatal tests become available for a range of other perceived genetic imperfections, they may also be heralding a broader cultural skirmish over where to draw the line between preventing disability and accepting human diversity.

“We want people who make this decision to know our kids,” said Lucy Talbot, the president of a support group here who prevailed on the hospital to give Sarah and two teenage friends an audience. “We want them to talk to us.”