Stand Tall

Note: for a more complete list of my posts, please visit my new site at www.patriciaebauer.com --

Please also see my related post "Tell them it's not so bad" at: http://www.patriciaebauer.com/2007/10/02/tell-them-its-not-so-bad

Text of my keynote speech about routine prenatal screening

delivered at the 35th annual convention

of the National Down Syndrome Congress

Kansas City, Missouri

Sunday, August 5, 2007

Long ago, my husband and I thought we had the world figured out. We had good educations, good jobs, nice offices, even preferential parking spaces. We thought we had it made.

Then, a little more than 23 years ago, Margaret showed up, providing us with the most important learning experience of our lives. Our first order of business was trying to figure out this whole Down syndrome thing, of course, but ultimately it dawned on us that the effect of an extra chromosome here or there was the least of what we needed to learn. Over time, we came to reevaluate our core values, and to understand that much of what we had been led to believe – about what makes a family happy, what makes a life worthwhile — was misguided.

I’m sure I’m not alone in saying that for the first few years of Margaret’s life we worked very, very hard to do everything we could to help Margaret become “normal.” It was only later that we realized what most families get to eventually: that “normal” wasn’t the point. Our real goal was to help Margaret be Margaret. It was only by letting go of the concept of normal that we were able to see our daughter as the delightful person that she truly is, not obscured by some burdensome word, some arbitrary social ideal that had nothing to do with any of us.

Like it or not, though, we have to admit that we as a nation have been sold this concept of “normal,” and we’ve fallen for it. Somehow, while the disability community was out of the room, the world of medicine established a diagnosable standard called “normal” and now we’re all trying as hard as we can to achieve it.

Starting this year, it is recommended by the professional organizations representing obstetricians and gynecologists in the United States and Canada that all pregnant women be offered prenatal screening for Down syndrome. All pregnant women. Prenatal screening tests are now well on their way to being standard of care. Insurance companies are covering them. And since Down syndrome is not a condition that can be repaired in utero, it must be fairly assumed that the purpose of this testing is to allow – and urge — women to terminate their pregnancies, which is in fact what has been happening about 90 percent of the time when Down syndrome is diagnosed prenatally.

Let me just underscore that, to make sure we’re all on the same page. Studies have shown that nine out of ten pregnancies in which there is a prenatal diagnosis of Down syndrome end in termination.

This is a painful topic to talk about, I recognize, and it’s made more painful by the very ironic fact that these recommendations have come at a time when people with disabilities have more legal protections than ever before.

Not only that, people with Down syndrome are in general healthier and having a better quality of life than at any time in history. This is the first generation to benefit from early intervention, inclusion, improved health care and better educational opportunities, and they are blowing up yesterday’s old data. Increasingly, they’re completing high school, getting jobs, living more independently. Some are driving; some are getting married. Imagine: I met a woman with Down syndrome the other day who was part of a relay team that swam the English Channel. These are people who are living full lives and making contributions to their communities.

We laugh at our house every time we see some article in the media about how people are “suffering” from Down syndrome. Margaret, my daughter, has just moved into her own apartment with a couple of her girlfriends. She’s sure not suffering. And just the other day, self-advocate Audrey Wagnon delivered the same message in her speech to the full NDSC convention. Here’s how she said it: “I’m having the best life ever!”

But – oddly — we live in a time in history in which the faces of our loved ones have come to symbolize something in the public mind that is very much at odds with our life experience. People see our family members and think what they’ve been taught to think. They think our children are tragedies. Yet we who are privileged to live with them know that, despite some of the frustrations of day-to-day existence, our lives are also filled with possibility and love and joy.

So why the disconnect between our lives and society’s vision of them? Perhaps we should start by acknowledging the obvious: prejudices, biases and fears of disability run deep in our society, nourished by years of history and reinforced among other things by ignorance, gaps in the healthcare and educational systems and negative media images.

Physicians tell me that women want prenatal screens because they are very fearful of having a child with a disability.

Among other things, they fear that the financial burden would crush them or that they wouldn’t be able to get a decent education for their child. They’re afraid, too, that they would be held accountable for having a child with a disability, and that there would be people who would blame them for failing to prevent the birth of such a child. They are afraid of stigma and ridicule. Sadly, these are not unreasonable fears.

But that’s only one piece of the puzzle we face. Here are few more:

– Puzzle piece number two. Prospective parents are suing their doctors if they don’t get a so-called “perfect baby,” leading to skyrocketing insurance costs and doctors who want to run every test possible to prevent litigation. Not long ago, a Florida jury awarded a couple more than $20 million because their doctor failed to warn them that their son would be born with a genetic syndrome.

– Puzzle piece number three. Physicians, nurses and other health care providers are giving their patients negative, outdated, biased or incomplete information about Down syndrome, depriving them of the ability to make their own informed choices based on accurate information instead of negative stereotypes.

– Puzzle piece number four. Financial demands on doctors mean they have to process more and more patients in less and less time, giving them scant opportunity to discuss tests and deliver diagnoses in a sensitive, thoughtful compassionate way. Women are reporting that these rushed interactions feel coercive.

– Puzzle piece number five. Medical schools don’t offer clinical training about people with intellectual disabilities.

– Which brings us to puzzle piece number six. Let’s not forget that prenatal diagnostics is a profitable industry, in which hundreds of millions of dollars are spent each year. A substantial portion of that cash flow swells the accounts of the obstetricians and gynecologists who see pregnant women. By contrast, I should point out, the amount of money spent on research into treatments and processes to improve the lives of people with Down syndrome is minimal at best.

All these factors, I’m sorry to say, have combined to create an atmosphere in which there is a growing presumption that pregnant women should be tested for Down syndrome – a presumption, stoked by ignorance and stereotypes, that children like ours are expendable, that children like ours are without value, and that children like ours impose an unwanted cost on society. Somehow, without our knowledge or participation, a cost-benefit analysis has been applied to our children and they aren’t measuring up.

You may be wondering: How did we ever get to this point?

For the purposes of this conversation, let’s start back in the ‘50s. Most of you won’t remember it, but people with disabilities then had not been granted the right to go to public school. Doctors didn’t think that people with intellectual disabilities were capable of learning, and routinely recommended that they be sent away to institutions. During the ’50s in this country, an estimated half a million children were institutionalized, often under the most abusive and degrading conditions.

So when a French geneticist named Jerome Lejeune discovered the extra 21st chromosome that causes Down syndrome in the late 50s, his discovery caused many to hope that treatments would soon be found. As you of course know, that didn’t happen. A far more straightforward task, from a scientific point of view, was the development of tests that could be used for prenatal testing and screening. Those tests really took off after abortion was legalized in 1973.

Doctors and scientists took a public role in recasting the definition of healthy fetuses and legitimate abortions, and what were called “therapeutic” abortions came to be regarded as a legitimate and desirable way to prevent or eliminate Down syndrome. It was in some ways just an accident of history that these so-called therapeutic abortions became well entrenched before our society was able to see what individuals with Down syndrome, given a chance, could do.

It is, as author Michael Berube has written, a bitter paradox: even though we have barely begun to explore the ways in which we could include people with disabilities in our society, we are devoting precious time and resources to developing better ways of spotting and eliminating these people before they are born.

Particularly troubling is the fact that this shift – to preventing Down syndrome by attempting to prevent the births of children who have it – was largely engineered by members of the healing professions, the very people who are charged with the responsibility of protecting vulnerable populations.

So now we are left with a harsh reality indeed. The implicit message the American College of Obstetricians & Gynecologists seems to be sending is this: even though racial, cultural and ethnic diversity are valued and supported in our society, genetic diversity is not. It seems that it’s more important to be “normal” than to be “human.” Or maybe we should view this as less a philosophical discussion than a pragmatic one. For OB/GYN’s, it’s better for business to deliver only babies that the medical profession calls “good outcomes.”

Somehow, along the way, the professional organization representing these doctors has failed to notice that they have embarked upon the elimination of an entire class of people who have a history of oppression, discrimination and exclusion.

I know we empathize with today’s young parents. Their finances are limited. They have grown up in an era of fear, taught to be afraid of strangers and wary of the strange. In the obstetrician’s office they trade their fears for the illusion of control — but in the process they are giving away much of what defines America at its best: a society that assumes responsibility for those who are vulnerable, a society that accepts those who are different, a society marked by generosity, liberty and freedom of thought.

These may sound like abstract concepts, but they’re not. The consequences of all these uninformed individual decisions, made in the privacy of the obstetrician’s office, are being played out before our eyes every day. We see them when our family members are the subject of unwanted stares. When people talk about how someone “had” to get rid of a pregnancy because it wasn’t perfect. When people tell us that special ed kids “cost too much.” When people ask us, sometimes in ways that seem unfriendly, whether we had “the test.” Or even why we didn’t have “the test.” When medical professionals look at our beloved children and say “that shouldn’t have happened.”

Let’s face it: people with Down syndrome have a catastrophic PR problem. The doom and gloom talk has gone largely unchallenged for far too long.

It gives me great pain to tell you all this, because I know you love your family members as much as my husband and my son and I love Margaret. I know, too, that you share our vision that people with Down syndrome are valued, contributing and vibrant members of our families and our communities.

We come together at reunions like these to affirm the value of our family members’ lives, secure in the knowledge that their extra chromosome is NOT the most important thing about them. They belong; they dream big dreams; they contribute; they deserve respect. What makes their lives difficult is not their genetic makeup; it’s the uninformed attitudes of others.

We know this, of course, but it’s not enough for us to share the message with one another. We need to put it out where all the world can see.

Let’s start with what we can do as individuals. As I’ve gone around the conference, I’ve heard about some great things that people are doing in their own communities. Things like:

–Helping to educate the doctors and genetic counselors in their area by visiting their classes or professional meetings.

–Building relationships with hospitals, and talking with families who have a fresh diagnosis.

– Monitoring their local news media, and holding them accountable for their coverage and their use of language about people with disabilities.

These are great steps, but let’s not stop there. Let’s dream even bigger.

It’s time for us to insist that our organizations advocate forcefully on behalf of people with Down syndrome in ways that are targeted to reach decision-makers, to reach medical professionals, and of course to reach the general public. Here are some of the things we need to do.

1. We need to provide disability awareness training and accurate information directly to obstetricians, to gynecologists, and to the professionals who assist them. They need to hear the nuanced, compassionate message that is at the core of diversity and human rights: all people have value and dignity and are worthy of celebration. We’ve told them this nicely. Now perhaps it’s time to turn up the volume.

2. We need to put out lots and lots of well-designed materials that will teach doctors how to discuss prenatal screening and diagnoses with their patients. Senators Kennedy and Brownback have recently reintroduced their bill on this topic. Whether it’s this bill or another one, we need to find a way for doctors to get the materials they need.

3. We need to improve medical school curriculums, which include almost nothing about children with disabilities.

4. We need to hold publishers accountable for the editorial content of their pregnancy handbooks. Take a look in your local bookstore, and notice what those books say about our young people. If they carry anything at all, it’s more than likely a cold, clinical list of symptoms and diagnoses, guaranteed to strike fear in the heart of any pregnant woman. We must change this.

5. We need to use technology to convey our message. Where does your average 20-or 30-something look for medical information? Right. The Internet. If we truly want to help people make informed decisions, we need to get involved in the Internet in a big way, both in print and in video. Our content needs to be useful and modern.

6. We need to enable prospective parents to see that people with disabilities live good lives, and that they have warm, sustaining relationships with their families and friends. Presently, that information is only coming to them anecdotally, if at all. Imagine how different things would be if people could be referred to a website that allowed them to click on videos that would show them footage of people with Down syndrome, of all ages and ability levels, going through their daily lives. America’s teenagers are communicating actively through Youtube – why shouldn’t we?

7. We need to speak up to challenge the old stereotypes about our family members and ourselves. We’re not victims. We’re not heroes. We’re just ordinary people sharing slightly extraordinary lives with people we love and who love us.

I talked earlier about people who sometimes ask us about whether we had “the test.” Here’s what I think they really want to know. Did you, or would you, choose this person to be in your family? Let me tell you my answer to that question.

When my husband and I decided to have children, we were kids. (Okay, we were in our early 30s. But viewed from a distance, that sure looks young now!) Sure, we had lots of education, degrees and experiences, but there was a lot we didn’t know:

– We didn’t know what it meant to be a parent.

– We didn’t know that there was no such a thing as normal.

– And we sure didn’t know that that it was possible to have a happy, thriving, loving family with a child who was not the same as everybody else’s.

Fortunately for us, we have learned a thing or two at the University of Margaret since then. We learned

– No child is “normal” — and neither are we;

– We, like all parents, need to get over the notion of our children meeting some arbitrary standards of perfection that we couldn’t possibly achieve ourselves; and

– We choose our children, and each other, over and over, every day of our lives.

In short, my husband and I have been privileged to share our lives with someone who is a constant reminder of some essential truths: the importance of family, the strength of unconditional love, the dignity and value of vulnerable people, and the fact that IQ points are not a good predictor of personal happiness or quality of life.

As we all ponder how to carry these messages to the outside world, as we get ready to leave the safe haven of our reunion today, let’s remember that we are all stronger together than we are separately.

But talking among ourselves, while important, won’t get the message out. We have to communicate directly with those not in this room.

A couple of years ago, a newspaper running a piece I’d written asked for a family photo, including Margaret. I gulped, feeling exposed, and called my husband to ask his thoughts. He said, “Stand tall; run the picture.” We did.

That is my message to all of us: Stand tall; get out the message.

People will listen.

We can do it.

Together.

A new perspective on prenatal screening

Writing in Canada’s professional journal of obstetrics, representatives of the Canadian Down Syndrome Society raise strong questions about the ethical implications of recent recommendations that all pregnant women be offered prenatal screening for Down syndrome.

“Our vision is of a proud Canada where all are welcome, where diversity is embraced, and where everyone’s genes are valued equally.”

CDSS vice-chair Rhonda Grant and executive director Krista Flint define Down syndrome as “a naturally occurring chromosomal arrangement that has always been part of the human condition.”

They maintain that social constructs and belief systems have aligned to cause perceptions that DS is a birth defect or an illness, a perception they say is flawed. They draw parallels between Down syndrome screening and prenatal sex selection, saying both practices are rooted in cultural biases that cause inequitable treatment and reduced quality of life for the targeted group.

Among their recommendations:

• Professional education for physicians and health care providers about the reality of lives lived with Down syndrome.


• A broad-based effort to provide accurate and balanced information to pregnant women, both about DS specifically and also about the realities of life with a disability.


• The use of value-neutral language by doctors in discussing Down syndrome with patients.


• A comprehensive plan to put prospective parents in contact with support groups or other knowledgeable parties.

Grant and Flint note that two members of the organization’s 11-member board have Down syndrome, as do twelve members of a board advisory committee. They describe the advisory board members as “university students, entrepreneurs, artists, employees and spouses who share our concerns about the new recommendations from the Society of Obstetricians and Gynaecologists of Canada (SOGC) and the implications of those recommendations for them and other people with disabilities.”

The letter is published in the July issue of the Journal of Obstetrics and Gynaecology Canada (JOGC), Canada’s peer-reviewed journal of obstetrics, gynecology, and women’s health.

A prenatal screening story with a difference

Click here to see a thoughtful, nuanced piece about prenatal screening by reporter Amelia Santaniello of CBS affiliate WCCO in Minneapolis. It avoids the old stereotypes and buzzwords, talks about what people with Down syndrome can achieve, and encourages expectant parents to learn more about the lives of people with DS and their families.

MS discovery sparks predictable treatment hopes

Scientists reporting in the New England Journal of Medicine report that three genes will offer new understanding to multiple sclerosis and may lead to new treatments. Skeptics among us will be forgiven for remembering that scientists had the same idea half a century ago, after French geneticist Jerome Lejeune identified the triple 21st chromosome in Trisomy 21 (Down syndrome). And have new treatments for Down syndrome materialized? Nope. There are, however, lots of very profitable prenatal screens and tests that are widely used to prevent the births of infants with Down syndrome.

"My lovely son, the Hollywood star"

Max Lewis and his mother, Sandy.
Max was featured in "Notes on a Scandal." (Daily Mail photo)

Here's a refreshing first-person article by Sandy Lewis in the (UK) Daily Mail. Sandy's 13-year-old son Max played opposite Cate Blanchett in "Notes on a Scandal," recently released on DVD. Sandy documents her personal journey, starting with the emotional story of her son's Down syndrome diagnosis and ending with his successful star turn in Hollywood.

Along the way, Sandy learns to ignore the negative predictions of "professionals" and instead to focus on the many strenths of her son, a gifted performer whose smile can light up a room. She has harsh words for the nurse who counseled her to institutionalize her baby, and for the parents who complained when they found their children shared a classroom with Max. She's looking forward to a bright acting future for Max, who is eagerly seeking roles that are written for "a boy with lots of talent."

Thisislondon.co.uk has another story on Max. Key quote: he likes acting "because I'm brilliant at it." For more information about actors with Down syndrome, go to www.dsiam.org, an online service based in Los Angeles.

Democrats shift policy on abortion

Stephanie Simon, writing in the Los Angeles Times, notes that Democrats in Congress and on the campaign trail are adopting some of the language and policy goals of the antiabortion movement.

"In a striking shift, Democrats in the House last week promoted a grab bag of programs designed not only to prevent unwanted pregnancies, but also to encourage women who do conceive to carry to term.

"The new approach embraces some measures long sought by antiabortion activists. It's designed to appeal to the broad centrist bloc of voters who don't want to criminalize every abortion — yet are troubled by a culture that accepts 1.3 million terminations a year."

The story also notes the return of the Kennedy-Brownback bill, which disappeared in committee in the last session of Congress and was reintroduced last week.

"Liberal stalwart Edward M. Kennedy (D-Mass.) is working with staunch conservative Sam Brownback (R-Kan.) to mandate more support services for pregnant women carrying fetuses with genetic abnormalities, such as Down syndrome. Focus on the Family, an influential conservative ministry, praises that bill as 'lifeaffirming.' "

To headline writers: Two thumbs down

Nominations for least favorite headlines:

Doomed from birth to death. From the (Toronto, Canada) Globe and Mail. On a story about the link between Down syndrome and Alzheimer's disease. See it here.

While it is indeed tragic that individuals with Down syndrome have a greater chance of getting Alzheimer's than the general population, it seems highly insensitive and unnecessary for the headline writers to refer to them as "doomed." Many, many people with Down syndrome are happy and productive community members; others are trying to make the most of their situations. One wonders: would a story about Elizabeth Edwards, who is living with incurable cancer, have carried a headline referring to her as "doomed"?

When an extra chromosome is one too many: Corruption to genes passed down to the baby from his parents can cause a myriad of problems. From the (Malaysia) New Straits Times. Link here.

As if babies didn't have enough problems -- now they have to deal with corruption. And very long headlines.

UCLA offers college experience to students with intellectual disabilities

The inaugural class of UCLA's Pathway Program is set to begin this fall. Sixteen students with intellectual disabilities including autism, Down syndrome and Asperger's syndrome will be attending classes through UCLA Extension, and they couldn't be prouder. From the story in the university's faculty and staff newspaper, Today:

Their excitement about what's in store for them this fall is palpable. It's in the eager glances and smiles they give their parents at an orientation session when meal plans, roommates and welcome week activities are discussed. It's the pride — even awe — with which their parents watch them assemble around The Bruin Bear for their official class portrait.

"It's inconceivable that our kids are actually doing this," confided parent Kathe Beltran, whose daughter Kate is in the class....

... This long-awaited program has been carefully crafted to offer students a college-going experience as well as a curriculum that blends academics with the practical skills they'll need to live independently.

... Living in apartments near campus, they will take classes in four UCLA Extension buildings and spend 60 hours a month learning to pay bills, budget, make medical appointments, use public transportation and cook, among other life skills. They will study at the library, exercise at the Wooden Center, eat in the dining halls, hang out at Ackerman and participate in campus life. Then at the end of two years, Pathway will help students transition to independent living.

For more information, see the UCLA Extension Pathway website.

Full disclosure: my husband and I are among the founders of Pathway.

Kuwaitis reported biased against Down syndrome

The Kuwait Times reports that Kuwaitis "attach a myriad of prejudice to people living with the Down syndrome." Among the anecdotal evidence cited: parents who subject children to multiple plastic surgeries to disguise their appearance, and parents who tied their child's hands and kept him in the basement as punishment.

A teacher is quoted as saying: "Some people fear them. Others reject them and don't accept them. There is a lot of rejection."

The link to the story is here.

Early screening cuts births of children with Down syndrome by 50 percent in Denmark

Early ultrasound screening, coupled with a blood test, has reduced the number of children born in Denmark with Down syndrome by 50 percent, according to Professor Karen Brondum-Nielsen of the Kennedy Institute in Glostrup, Denmark.

The findings were the result of an analysis of data collected in three counties in Denmark, accounting for about one-fifth of the nation’s population, for the years 2004 to 2006. The analysis followed a recommendation for new guidelines for prenatal diagnosis in 2004 by Denmark’s National Board of Health.

Until September 2004 the Danish government had recommended that only pregnant women over the age of 35 should be offered the combined non-invasive tests, which are carried out between the 11th and 14th weeks of pregnancy.

But Denmark's national health board subsequently recommended that the early tests should be made available to all women who requested them, regardless of age. The combined testing regimen included a nuchal translucency ultrasound along with a maternal blood test.

Brondum-Nielsen reported that women whose initial screen indicated an elevated chance of Down syndrome were then offered an invasive test (amniocentesis or chorionic villi sampling). As a result of the early screening, she said, rates of invasive testing declined during the period studied.

See the reports here and here.

"... The professor concluded that there was a need to analyse the psychological impact of the policy, both in regard to the pre-test counseling available to pregnant women and their attitudes towards screening."

Prenatal screening tied to MD concerns over lawsuits: Economist

In a report from the Economist, ACOG's prenatal testing and screening guidelines are attributed at least in part to physician worries over wrongful birth litigation. See the story here:

Wanted: Perfection. Doctors try not to be sued over Down syndrome babies

Key quote:

The new guidelines may also be triggered by the surge in lawsuits. In November an ACOG survey found that 65% of obstetrician-gynecologists had reduced their practices for fear of liability claims. Clinic workers confirm that women who have imperfect babies tend to blame doctors. One nurse says her clinic can't afford the insurance to ward off the suits. 'If more tests reduce our risks, then so be it.' (emphasis mine)

What's remarkable to me is that more media attention hasn't been paid to the connection between wrongful birth lawsuits, lack of tort reform and the broadening of prenatal testing. Although ACOG has presented the guidelines as a response to requests from women, the Economist makes the point that the guidelines often are not well implemented, and many women are feeling ill-served.

From the story:

Many obstetricians are clearly overworked, with no time to offer more than suggestions and results. And although the guidelines describe these tests as options, many pregnant women are feeling badgered. Some are being asked six times or more whether they want an amniocentesis.

The economic subtext becomes more clear when you read the most recent ACOG report on litigation here. Among the key findings from the 2006 ACOG survey on professional liability:

-- Almost 70% of ob-gyn survey respondents have made changes to their practice as a result of the affordability and/or availability of professional liability insurance, and 65% have made one or more changes to their practice as a result of the risk or fear of professional liability claims or litigation.

-- A total of 89% of respondents indicated they had at least one professional liability claim filed against them during their professional careers, or an average of 2.6 claims per ob-gyn.

-- Top lawsuit allegation made against gynecologists: delay-in or failure-to-diagnose.

In other news:

From USA Today:
A mother's view of a word that wounds: 'Retard'

From the Independent (UK):
Screening IVF embryos 'can damage birth chances'
(See the original report in the NEJM here.)
Childhood asthma gene identified by scientists

From the Guardian (UK):
Benoit son's disability questioned

From WPVI-TV in Philadelphia:
Gifts for every parent

Prenatal screening panic

Dear Pat,

A dear friend's niece is facing a crisis. She is pregnant at 35 with one little daughter, and the prenatal screening tests are showing but not yet conclusively the possibility of Down Syndrome in this pregnancy. She is understandably overwhelmed. She won't have a complete report for another 10 days. Do you know what resources are available for counseling and helping a woman at this point in her life? I am sure there are many and some will presumably come from the OB-GYN, but if you have any suggestions, they would be welcome.

I have always told my daughters that in any critical situation there is time, as strange as that may sound, to still examine things and think them through. This definitely feels like one of those moments. This woman is utterly overwhelmed and I have tried to offer my friend encouragement to help her slow down, gather information, think carefully and proceed with care. The stakes on either side of her choice are very high.

What can we tell her?

Claudia
______

Yes, you're right: there is time to gather information and think it through. Unfortunately there’s a lot of confusion out there, and it seems that we’ve been much more successful in developing tests than in helping people interpret the results.

First, there’s the confusion about the tests themselves. Your friend should be aware that the prenatal screens used in the first trimester produce data in what is called a "probabilistic" format. In other words, they are not definite; they say that you may have one chance in X number of a particular result.

It's important to know that what the woman receives are odds (sort of like Saturday night in Las Vegas), and that the screens are designed in such a way that they deliver many false positives as well as false negatives. I've had email from women who have been told they had a high probability of a child with DS only to have a child without it, and women who were told their child would likely not have DS and then did have it. In all likelihood, her doctor will recommend followup testing of amnio or CVS, which will offer more definitive (although not infallible) information.

Then there’s the confusion about what a diagnosis of Down syndrome could mean. Everyone is unique, and there’s no way to predict what a person will be able to do by looking at their chromosomes. Recent advances in education and healthcare have brought about marked improvements in outcomes for people with DS these days, according to parent reports. (See "Prenatal tests put Down syndrome in hard focus" in the New York Times.) But national outcomes data is not kept, so it's understandable that medical professionals who have minimal contact with people with DS may well be unaware of progress that parents are seeing.

In a recent survey of mothers of children with DS published in the American Journal of Obstetrics and Gynecology, Dr. Brian Skotko found that parents feel obstetricians and genetic counselors fall short when it comes to delivering a prenatal diagnosis of Down syndrome to pregnant women. (You can access the study here.) Mothers who received a prenatal diagnosis of DS reported that doctors did not give them a balanced view of the possibilities and realities of life with Down syndrome, and did not provide up-to-date information.

With that in mind, your friend might want to contact her local Down syndrome organization. In my experience, predictions by doctors and lists of symptoms in medical textbooks can be very limiting. It’s not until you meet other families and get current information that you begin to see the possibilities. The National Down Syndrome Congress and the National Down Syndrome Society, available on the internet here and here, may be able to help you find a local affiliate.

And if that’s not enough to think about, you should also be aware that OB/GYNs are feeling the bite of rising medical liability insurance costs as courts in some states have been awarding damages in what are being called "wrongful birth" lawsuits. With that kind of backdrop, it's understandable that many doctors are insisting that women get prenatal screening (or sign a waiver declining it) as a way of warding off potential lawsuits. Sadly, this only adds to the level of anxiety that surrounds the topic of prenatal screening.

As I'm typing this, my daughter Margaret is busily reading "Julia and Jacques Cooking at Home" by Julia Child and Jacques Pepin, looking for recipes for tonight's dinner. She has completed high school and a post-secondary culinary arts program, and is excited that she will be moving into her own apartment with a couple of girlfriends (with some help from mom and dad) later this summer.

I guess I'd want to tell your friend that in the final analysis, being a parent to any child is both work and a gift. Like many things in life, it mostly requires that we keep smiling and keep showing up. Having a few good friends also makes a world of difference.

P.S. Here's a link to a story from the Sacramento Bee the other day about a "precocious" third-grader who's performing in her local junior production of "The Music Man." Her name is Katina and she's got DS. The photos are adorable.

Michigan woman with DS killed in apparent murder-suicide

Glee Bengel and her 24-year-old daughter April were found dead of shotgun wounds at their Lansing-area home this week, and police say they suspect the mother killed her daughter and then herself. Glee Bengel left a note saying that her colon cancer had returned and she feared that April would not be cared for in the event of her death.

A news report described April as a "delightful" young woman who operated the cash register in a local training program and was working on living independently. Links here and here. John Schneider, writing in the Lansing State Journal, extends his sympathy to the mother, writing that murder-suicide in such a case is not unprecedented. His words:

"... I don't know what other alternatives Glee Bengel had - for herself, or her daughter. But the world, minus the sheltering arms of a loving parent, can be a harsh place for people who depend completely on the selflessness and forbearance of other human beings. That's why we sometimes read about parents who just aren't willing to send their children to that place."

Sigh. Am I reading what I think I'm reading? The columnist finds it understandable for this mother to kill her daughter because her daughter had Down syndrome? That this case is a tragedy is not in question. But the tragedy was not that the daughter had a disability. (In fact, it sounds as though she was pretty capable.) The tragedy here was that her mother was not willing or able to seek the help that her daughter may have needed to maintain a secure and satisfying adult life in her mother's absence.

My hope, for this columnist and for the rest of us, would be that a case like this would provide an opportunity to examine the services that are available for families of people with disabilities, and to make reasoned recommendations about what improvements are needed. Instead, we find a writer who implicitly excuses this young woman's killing because he sees death (by shotgun blast) as preferable to a life in which she must depend on people other than her mother.

Attitudes like the ones expressed here serve only to extend unwarranted public stigma against people with disabilities, and to excuse society of the responsibility of caring for its more vulnerable members. If we aren't providing adequate support for individuals and their families, then let's be more forceful in advocating for needed changes in the memory of April Bengel. She deserves nothing less.

Note to the media: We can do better

Kudos to Susan M LoTempio for her essay "How the News Media Handicap Those with Disabilities." Writing for the Poynter Institute, a school for journalists, LoTempio rightly skewers "feel good" stories about overcoming disabilities and takes writers to task for using language that reduces people to pitiable stereotypes. She targets a recent NPR report using the phrase "confined to a wheelchair" as inaccurate and disrespectful. Also receiving a dart was a story in Editor & Publisher bearing the headline: "Deaf Photog and Blind Editor Overcome the Odds Together."

Writes LoTempio:

"Overcoming the odds" is one of several troubling formulas that journalists choose when writing about people with disabilities. The others are, sadly, making people into heroes, objects of pity or sources of inspiration. None of those formulas will ever give a full and accurate portrait of a person with a disability because it crams the individual into some preconceived notion of what his or her life is like (but rarely is).

LoTempio also offers laurels to a New York Times story about an amputee sprinter who wants to compete in the Olympics. He uses carbon blades instead of feet. (See my earlier post here.)

A comprehensive discussion of troubling stereotypes in the media would take more time than we've got, but here's a recent nominee of mine:

USA Today's story "Despite Down Syndrome, sons compete -- and win," in which the writer profiles a single woman with multiple sclerosis who adopted four children with Down syndrome. The usual upbeat quotes about "doing your best" and winning medals in the Special Olympics are highlighted. It's hard to imagine the writer finding a less typical, and more stereotypical, subject for a story. If the writer has ever encountered a person with a disability before, or has any concept of what their lives may be like, it's not apparent here. My favorite quote: "Not surprisingly, Teri, a single parent, is considered a minority, if not an exception, for doing what she does." No, do you think?

Susan's earlier essays can be found here.

Prenatal diagnosis and perceptions of bias

Data here on the unintended consequences of prenatal diagnosis, this from the journal Intellectual and Developmental Disabilities. Mothers of children with Down syndrome in Germany report a much greater feeling of being involuntarily segregated in society today, compared with data collected before the widespread acceptance and availability of prenatal chromosome analysis. The authors note this finding comes even as the prognosis for newborns with Down syndrome is better than ever before in terms of life expectancy, health care and psychosocial support.

“Accordingly, parents of children with Down syndrome may experience a somewhat paradoxical contrast in society between prenatal rejection and postnatal acceptance of their child.”

More quotes:

“…. In a recent survey in Germany of parents with children who have Down syndrome, 26% reported that they had been confronted with accusations that the birth of their child could have been ‘‘avoided’’. This rate was as high as 40.5% among those parents who had received the diagnosis of their child’s disability prenatally. This observation supports the widely discussed assumption that the availability of prenatal diagnosis puts affected families under social pressure by undermining the acceptance of their child with disabilities. “

The authors conclude that mothers experience feelings of greater personal stability and self-confidence than they did 30 years ago, presumably aided by parents’ self support groups, but that they also increasingly feel that their children are being discriminated against.

“... mothers of children with Down syndrome, which the general public widely recognizes as the most prominent example of a prenatally diagnosed genetic disorder, tend to experience the availability of prenatal diagnosis as an emotional burden. Nonetheless, mothers wishing that their child would not live anymore remain rare exceptions. The improved medical care and psychosocial support for children with Down syndrome and their families seems at least to outweigh the emotional stress caused by the option of prenatal diagnosis.”

The report appears in Volume 45, number 2: 98-102. The journal is published by the American Association on Intellectual and Developmental Disabilities. Lead authors: Wolfgang Lenhard, PhD, Erwin Breitenbach, PhD, and Harald Ebert, PhD, institute of Special Education, Wuerzburg University, Wuerzburg, Germany.

Public man, private father

Nowadays, pregnant women regardless of age are offered prenatal screening and testing for Down syndrome. That wasn’t the case in 1984 when my daughter Margaret arrived, all blue eyes and strawberry curls. She was just about the biggest surprise my husband and I ever got. We resolved to give her the best start we could and hope for the best.

Fortunately, health care for people with Down syndrome had started to improve, and there was a fresh federal law on the books guaranteeing our daughter the right to a public education. We were relentless in seeking out people who could help.

This fall Margaret will move into her own apartment with a couple of girlfriends. She’s giddy with excitement. Like many parents of young adults, her dad and I are holding our breath.

For years I hadn’t wanted to know too much about what had happened to people with Down syndrome in the years before they began to get education and health care. I feared that their sad historical legacy might dampen my resolve to help Margaret achieve her potential.

But when a friend sent me a note recently saying that Charles de Gaulle, too, had had a daughter with Down syndrome, I had to find out more. Who was she? What was her place in history? And what lessons might her life hold for those of us who have followed in her family’s footsteps?

My quest leads me down a shaded, winding road in France’s jewel-like Chevreuse Valley, near the little country town of Milon-la-Chapelle, just outside Versailles. Embraced by the arms of a mighty oak that is said to represent the great man himself, there stands the elegant Château Vert-Cœur.

The chateau is home to a few dozen souls, some of them refugees taken in by Charles and Yvonne de Gaulle after the Second World War, all of them with intellectual disabilities of one kind or another. I am welcomed by its inhabitants, gracious women with soft hands and kind faces, as well as by members of the de Gaulle family, and by representatives of the foundation that bears the name of Anne de Gaulle.

The general’s nephew Etienne Vendroux roars his approval upon glimpsing the photograph of my children I carry. “Margaret!” he cries. “My grandmother, Madame de Gaulle’s mother, was Marguerite. We have many Margarets in the family.” We laugh at the unexpected bond. My grandmother, too, was called Margaret. My daughter’s middle name is Anne.

An enthusiastic tour of the grounds begins, followed by lunch in a sunlit room. Over champagne, I learn the story of the relationship between one of the world’s most powerful men and his cherished, vulnerable daughter.

___


Scholars from all over the world have long combed the archives for clues into the puzzle that was de Gaulle. How did one young general find the courage to stand alone against the Nazis, breathing life into a dying nation? Even as the Germans marched into Paris in 1940. de Gaulle’s stirring call to arms via a BBC radio broadcast put a thumb in the eye of the would-be conquerors and created the French resistance: “"But has the last word been said? Must hope disappear? Is defeat final? No!”

There are many theories about the roots of de Gaulle’s indomitable resolve, most originating in ideas about a haughty man marked by boundless ambition, an iron will and a passionate allegiance to France’s ancient glories. But for those who knew him in his private moments, some part of the answer to the riddle resides in the influence of a girl who was not like the others.

The general’s youngest child Anne arrived on New Year’s Day, 1928. Her face carried the characteristic signs of Down syndrome, a condition now known to be caused by an extra copy of the 21st chromosome. Adding to the family’s woes, Anne had also experienced birth injuries that left her with motor impairments. Despite the family’s best efforts at teaching her, she would never be able to walk alone.

The news of Anne’s disability devastated her father, a war hero and an officer posted to Trier, Germany, and his wife, the former Yvonne Vendroux. He was a studious and driven young man wedded to the nomadic life of the military; she, the daughter of a Calais businessman, was not yet 28. They already had two other small children, Philippe and Elisabeth.

In the years between the great wars, public awareness of disability was shaped by the ideal of military casualties: brave men bearing injuries with honor in the service of a noble cause. By contrast, Anne’s condition was perceived as a cause for shame and social stigma. The couple concluded that their family life should be kept very private.

The discovery of DNA was still decades off, so scientists had turned to racial stereotypes in an effort to explain what they could not understand. They labeled Anne’s condition “Mongolian idiocy,” reflecting a popular Eurocentric belief that Mongolians occupied a low rung on the evolutionary ladder.

Children like Anne were viewed in that era with superstition and were often wrongly regarded as an indication of degeneracy, venereal disease or alcoholism on the part of their parents. The recent advances in medical care and education that have enhanced the health and welfare of people my daughter’s age were not yet dreamed of. Commonly in Europe between the wars, as in the United States, such children were sent to institutions that offered little more than subsistence living.

Photographs of the young Anne reveal a pretty child with an earnest gaze and a strong resemblance to her mother. The de Gaulles rejected public stereotypes and came to view Anne as a gift, their nephew says, an attitude that may have been rooted in large part in their deep Catholic faith. Though Anne’s speech did not progress beyond the realms of childhood, her unconditional love became the emotional center of the de Gaulle family. Her father described her as “my joy,” adding, “She helped me overcome the failures in all men, and to look beyond them.”

Charles and Yvonne set about trying to create a life in which each of their three children felt accepted and cherished. They insisted that Anne travel with them everywhere – Germany, Lebanon, Algiers. The general sang songs for her and read her stories, displaying an affection and tenderness that he did not readily share with the other members of the household. The family had one rule above all: Anne was never to be made to feel different or less than anyone else.

When the Nazis invaded and the general hastened to London in a desperate effort to spark the resistance effort, Madame de Gaulle embarked upon a resistance of a more personal sort. She saved the lives of all three of her children, driving them and a nurse through the flood of desperate refugees to the last ferry to leave Brest before the Germans arrived.

If Madame de Gaulle thought the journey might be made more perilous by the presence of a 12-year-old girl who was not able to walk alone, her actions did not reflect her fears. “We always had to take Anne, never abandon her. God gave her to us. We keep her,” Anne’s brother Philippe later wrote. “We have to take care of her as she is and wherever she is.”

The family spent the war years with the general in the Hampstead section of London, where he came to know in more detail the full horrors of the Nazi activities. Looking back, I wonder: did he learn then of the Nazi Aktion T4, the eugenic program which systematically exterminated some 200,000 people with physical and intellectual disabilities between 1939 and 1941? Had he known about it earlier? And how, given his very personal commitment to his daughter, might that knowledge have informed and shaped the outrage with which he denied the legitimacy of Vichy?

Although the archives don’t reveal whether the general knew the specifics of T4, there was no mistaking the eugenic winds that were blowing across Europe. In the years before the war, men who later assumed influence under Vichy had been publicly espousing forcible sterilization for “defectives,” a philosophy that fit neatly with Nazi desires for cleansing society of “racially unsound” elements. The implicit attack on Anne and on the de Gaulle family must have been all but unmistakable.

After the war, Charles and Yvonne’s love for their daughter inspired them to create a welcoming home for young women with Trisomy and other intellectual disabilities. Vert-Cœur has been the focus of that effort for almost sixty years, and it still maintains the aura of quiet serenity and protection that first drew the couple to walk its paths.

Management of the foundation today has been passed to the de Gaulles’ nephew and granddaughter, who maintain a discreetly low profile in keeping with family tradition. Although the foundation was originally focused on protection of vulnerable people, in keeping with modern thinking it is now moving more toward integration of people with disabilities throughout society. An expansion is planned in Brittany that will bring young people with disabilities together with their school-age peers.

Still, there are serious questions being raised about the level of acceptance that greets these people in modern France. Ethicists have questioned the essential paradox posed by a society that pledges support for people with disabilities while also providing public funding for the prenatal screening and termination that is believed to eliminate more than 90 percent of fetuses affected by Down syndrome. Within the foundation, there are concerns that these trends represent a shocking social schizophrenia. There is also a new determination to bear witness to the dignity of people like Anne.

In the end, the Man of Destiny who brought hope and life to millions could not do the same for his cherished daughter. Pneumonia overtook her, aggravating her weak heart, and Anne coughed her last in her father’s arms in February of 1948. Her life and death were defined by her era; tragically, the medical techniques we now know might have helped her did not come in time.

As far as her family knows, the brimming de Gaulle archive does not contain any writing by Madame de Gaulle about her daughter. But a letter her husband wrote to Elisabeth shortly after Anne’s death captures the couple’s profound grief: “Her soul has been set free,” he wrote. “But the disappearance of our little suffering child, of our little girl with no hope, has brought us immense pain.”

The self-created man who commanded soldiers and negotiated with great powers on his own terms woke each day with the certain knowledge that there were limits to his authority. Something he had dearly wanted – that his daughter be whole and strong and proud -- had eluded him, but he stood by her nonetheless and did everything within his power to serve her best interests and celebrate her memory.

Late in the afternoon, after hands have been shaken and cheeks kissed, on the ride back to Paris my mind keeps churning. Anne and Margaret. Margaret and Anne. Two extraordinary girls, two eras, two continents. Two lives joined by a common diagnosis. Two loving families who may have wished away their daughters’ impairments, but cherished their girls nonetheless.

Perhaps the general’s fierce devotion to Anne and his courageous resistance to Hitler were unrelated, two coexisting expressions of the ethical and moral sense of a religious and traditional man. But those of us who have been changed by the unconditional love of a person like Anne continue to wonder.

This young woman’s life was a constant reminder of the dignity and value of vulnerable people, a message delivered like an arrow to the heart of one of the twentieth century’s most influential men. I would like to think that Charles de Gaulle may have found in Anne an exhortation to stand up for what is right in the face of overwhelming public ignorance and cruelty. Perhaps, just perhaps, she helped to change the course of history.

PWD* reacts to prenatal screening

The Washington Post runs letters in response to "Haunting Echoes of Eugenics." Bridget Brown, a woman with Down syndrome, compares widespread prenatal screening and termination with genocide directed toward people with disabilities. Her words:

I have a full and wonderful life, and the world needs to know that I do not "suffer" from Down syndrome. Most people I know with disabilities have full and productive lives. My heart breaks when I think that I might be part of the last generation of people with Down syndrome. The world will never again benefit from our gifts. But I will continue to hold hope for people with disabilities. And I will pray for all the people who think we don't have the right to live.

Ms. Brown's letter goes to the heart of the ethical conundrum surrounding universal prenatal screening, which Michael Sandel powerfully explores in "The Case against Perfection: Ethics in the Age of Genetic Engineering" (just out on Harvard University Press). Is total reproductive choice completely beneficial to society? Ms. Brown's experience doesn't lead her to that conclusion. As a person with a disability* (PWD), she encounters daily the uninformed and negative preconceptions people have about her and the quality and value of her life.

Sandel explores the issues around reproductive choice and views it as a mixed blessing. He worries that individuals who are granted this kind of control over their children will come to be held accountable for their children's perceived flaws. The implication: that those who screen and terminate will come to be seen as "responsible" parents, thus justifying a society that lacks empathy and compassion for the lives of those who differ from accepted norms.

Taken together, the aggregation of our private, individual decisions seems to reflects a deep and undiscussed discomfort with those who are different. The implicit message we seem to be sending is that while ethnic diversity is valued and supported in our society, genetic diversity is not. How comfortable would any of us be explaining that paradox to Ms. Brown?

Further reading on this topic: "Confessions of a 'Genetic Outlaw'", by Elizabeth R. Schlitz, in Business Week, July 20, 2006.
____

It's worth noting: this is not a discussion about Roe v. Wade. It is a discussion about the paucity of informed consent in prenatal screening, and the collective social effects of individual decision-making.

The paradox of "normal"

Penn State University professor and author Michael Berube, writing in Toronto’s Globe and Mail, asks whether widespread prenatal screening is a reflection of society’s negative views of people with disabilities.

An excerpt:

“ … as a society and as a species, we still don't seem to know what "normal" really is. We could think of the norm as (a) what's left over when we get rid of all the abnormalities, or (b) nothing more than the statistical mean in a fully inclusive society that incorporates every single one of us into public life to the greatest extent possible.

"I prefer (b) myself, and I think you should too; but I worry that uncritical advocates of prenatal screening are thinking in terms of (a). Which leaves us with a bitter paradox -- that even though we haven't begun to explore the ways in which we could include people with disabilities in our society, we devote precious time and resources to developing better ways of spotting them before they are born."

The whole piece can be accessed here.

An introduction

When my children were in middle school, they participated in a schoolwide effort called the “Worthwhile Life Project.” The students were assigned to take stock of their lives and their dreams, and to write an essay in which they explained how they planned to use their talents for the benefit of society.

Margaret’s essay was both elegant and direct. She wrote that she had Down syndrome, explained that it is a genetic condition that causes her to learn more slowly than other students, and said she did not think it would stop her from having a worthwhile life. When Margaret presented her essay to the class, she caused a sensation. Some students wept. She was invited to present her work in several other classrooms around the school, with much the same result.

The reporter in me wondered at the time why Margaret’s presentation seemed to elicit so much emotion. In retrospect, I think now that she was challenging the subliminal messages that her classmates were picking up elsewhere. A worthwhile life? How could a person with an intellectual disability have a worthwhile life? And yet there was Margaret advocating for herself and talking about her dreams just like everybody else. It was a powerful statement.

A few years have passed since then, but the need for those powerful statements hasn’t gone away. This spring, the American College of Obstetricians and Gynecologists recommended that all pregnant women regardless of age be offered prenatal screening and testing for Down syndrome.

This recommendation, which is perhaps the perverse unintended consequence of concerns about “wrongful birth” lawsuits and high malpractice insurance rates, seems to me to fuel public fears of disability. It sends an implicit message that people with Down syndrome aren’t capable, don’t have worthwhile lives, and aren’t welcome members of loving families.

In my experience, that’s not an accurate assessment. Thanks to changes in federal law that have opened doors to education and healthcare, people with DS are increasingly finishing high school, working in the community, and enjoying more independence than ever before.

Anybody who has had the pleasure of spending time with Margaret knows that young adults with DS are not heroes or victims but real people trying to live ordinary lives under slightly extraordinary circumstances. Margaret’s got friends, a part-time job, an exercise class, a can-do attitude and a smile that can light up a room. I asked her recently what she thought people need to know about Down syndrome. Here’s her answer: “Tell them it’s not so bad.”

While raising my children, I’ve used my journalistic training in an effort to understand the ways in which our society treats people with disabilities. I've been encouraged by improved access to education and health care; I also know firsthand the frustrations of trying to exercise those legally protected rights.

At the same time, I've been struck by the paradox posed by the new reproductive technologies. While they hold the promise of great medical progress, it must also be said that they will further marginalize a class of people who have historically faced discrimination, social ostracism, stigma and abuse.

With neither a coherent public discussion nor a concerted effort to obtain true informed consent, we seem to be sleepwalking toward a collective intolerance for genetic diversity. Absent as well is a public conversation about the vast sums that will be spent on prenatally diagnosing DS, as compared with the relatively meager amounts currently dedicated to research into medical treatments for people with DS.

Margaret’s girlfriends from elementary and middle school are child-bearing age now. I try to picture them in an obstetrician's examining room, listening to a well-meaning doctor offering a gloomy and outdated vision of the life of a person with DS. What will they think? Will they remember the cute blond girl who shared sandwiches with them at lunch, who dusted them off when they fell on the playground, who loved them? Will they remember her “Worthwhile Life” project?

My husband likes to say that Margaret asks nothing of us except that we change the world. I invite the readers of this blog to contribute to my ongoing exploration, which recognizes the essential contributions of people with disabilities and searches for ways to assure that they are respected and valued.

Down syndrome in lay language

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."