The MaterniT21 LTD test could make people with Down syndrome a rarity
Nine years and one day ago, I was roused by a panicky phone call from my sister and her husband.
Their first grandchild, Betsy Kate Stein, had arrived 11 days early — and was born with Down syndrome.
I threw some clothes on and raced to the hospital. There was no time to even Google “Down syndrome.” I knew nothing about it. At least nothing good.
“When Betsy was first born it was very bittersweet for both of us,” my niece Cindy Stein recalls of that day. “Like other parents, we were not aware of what Down syndrome is about.”
We all pictured the worst. That’s because medical professionals tend not to be trained for, or adept at, laying out balanced, factual and up-to-date information about the condition.
Children like Betsy, we were led to believe, could only be a burden.
Except that, like so many other children with Down syndrome, she is a total delight.
She’s also a happy, active, imaginative, animal-loving champion swimmer who is a great traveller and is better behaved in restaurants than most “normal” kids.
Last fall, a new blood serum test hit the U.S. market.
It’s called MaterniT21 LTD and it detects the extra 21st chromosome. That’s all Down syndrome is: 47 chromosomes instead of the standard allotment of 46. Twenty-three chromosomes from each parent and boom, a baby has blue eyes or brown, straight or curly hair, this from Mom’s side, that from Dad’s.
Down syndrome kids get a bonus 21st chromosome in whole or part, which is why the genetic condition is also known as Trisomy 21.
That extra chromosome means an array of mental and physical characteristics. In most cases, people with Down syndrome have intellectual disabilities, though they can be mild. Delayed language and motor development are common.
They tend to look different, with flat faces and eyes that slant upwards. Often they are afflicted by congenital heart disease, which can be treated soon after birth, hearing and vision problems, thyroid dysfunction and early-onset dementia. The average life expectancy is 55 years.
The thing about MaterniT21 is that, unlike previously available tests such as amniocentesis and CVS (chorionic villus sampling), it’s non-invasive, carries no risk of spontaneous miscarriage and can be administered early in a pregnancy. Early enough hat prospective parents might not feel so bonded with their fetus — and might be more willing to let it go.
Not that many of them are currently getting to term. It’s estimated that up to 80 per cent of fetuses that test positive for Trisomy 21 and do not get terminated are miscarried or stillborn.
But research shows that the abortion rate for fetuses identified as likely Down syndrome babies ranges as high as 95 per cent.
For McGill University’s David Wright, author of Downs: The History of a Disability and big brother to Susan, who was born with Down syndrome, there is profound irony in society’s increasing acceptance of disability and the persistently high rate of selective abortion of Down syndrome fetuses.
“Today there is a greater understanding of disability, greater support for disability, more public policy and legal mechanisms to ensure accessibility for people in society,” he says. “And yet, on the other hand, there is this modernist desire to have the perfect child.”
Because of MaterniT21 — Canadian women can hop across the border for it — fears are that, like smallpox and polio, Down syndrome could be wiped out.
It’s not an unimaginable scenario.
Dr. Brian Skotko is a medical geneticist at Children’s Hospital, Boston. Because of his sister Kristin, he has become an internationally recognized expert on Trisomy 21 — and a vigorous advocate for people with Down syndrome.
According to his research, with older women having more babies — which increases the likelihood of Trisomy 21 — more babies with the condition should be coming into the world. But they’re not.
“Between 1989 and 2006 in the U.S.,” he explains, “there’s been an 11-per-cent decrease in the number of babies born with Down syndrome. That’s during a time frame when we should have expected a 42-per-cent increase. So the difference between what could have been and what actually is about a 53-per-cent decrease.”
“Will the last person with Down syndrome please turn out the lights and close the door?” laments Toronto bioethicist Tom Koch, who sits on the Canadian Down Syndrome Society’s resource council. “Is this really the standard that we want our society based on?”
These and other questions are mind-boggling.
First, there are the implications for the kinds of research and health or social services that have allowed people with Down syndrome to dramatically increase their life expectancy and quality of life. Public investment also allows them to benefit from education and therapies that make them productive and independent members of society.
If there is no critical mass of people with Down syndrome in the future, there will be no political incentive for any such investment.
The fewer the social supports and medical breakthroughs, the less likely it will be that prospective parents would continue with a pregnancy.
Some would call that state-sanctioned eugenics.
“We’re engaged in eugenics, sure,” insists Koch, pointing out how testing for Down syndrome is not only the original genetic test but also the most common one. “Down syndrome persons have always been the canary in the coal mine for this whole area of abortion, of genetic testing, for perfect people and different people.”
A generation ago, most Down syndrome babies — then called “Mongoloid” — would likely have been written-off, institutionalized, forgotten.
Today, they might not even make it to the neonatal nursery.
And so the ethical issues around eliminating Down syndrome could fill volumes.
Indeed, the Quebec government recently struck a task force to deal with if and when a test such as MaterniT21 comes to Canada. (Its manufacturer, Sequenom, says it can’t predict when that will happen.)
The task force’s 120-page report concludes, among other things, that the greater the termination rate, the greater the likelihood that the ever-decreasing numbers of people with Down syndrome would face even more stigmatization in a society seeking ever greater physical perfection.
But the task force also said it would not deny women their reproductive rights, emphasizing that, in order to have true choice, prospective parents had to be not only fully informed about life with a Down syndrome child but also assured of societal and government support.
The task-force committee repeatedly said that people with Down syndrome are valuable. They tend to have sunny personalities and optimistic dispositions on life. They bring something to the community table.
Which could explain why there are long lists of American couples who actively seek out Down syndrome children for adoption, says Skotko, whose research indicates that Down children are not only much loved by their families but also credited with giving them a much more “positive outlook on life.”
As the Quebec report concluded, “those who have first-hand experience with people with Trisomy 21 firmly believe that the latter help create a better world, precisely through their unique way of looking at life, the simplicity and veracity of their relationships, and because they bring us back to the fundamental values that give life meaning.”
“We all like people with Down syndrome but we don’t want one of our own,” notes Koch with regret. “I understand the allure of being able to say, ‘I’m going to wait until the right fetus comes along.’ But life happens. So as a society, do we want to basically allow fear and prejudice, or do we want to say, ‘We will support you, we welcome your differences along with your strengths?’ ”
Rick Smith is Noah’s Dad, and the blogger behind NoahsDad.com.
Thirteen months ago, when their son was born, the Dallas communications pro and his pediatrician wife, Abbie, had a nasty shock. Not because Noah has Down syndrome — although that did come as a surprise — but because of how everyone around the family acted.
“The first words out of our OB/GYN’s mouth were ‘I’m so sorry,’ ” recalls Rick Smith. “You don’t say that to someone who is holding a baby in their arms. It’s a celebration. We just had a baby. Celebrate with us.”
Regrettably, this is an all-too-common scene.
“Just go to our Facebook page, there are 11,000 families on there,” says Smith. “They say they were painted a very bleak picture, they say, ‘We were scared, we thought we were alone,’ and they don’t get good information. When Noah was born, we left the hospital with nothing. We had a small little pamphlet that looked like it was made in the 1980s and it was horrible.”
If medical professionals have attitudes like that, no Down syndrome fetus will stand a chance.
So Rick is one of the ever-growing number of Down syndrome advocates who — like Wright, Koch and Skotko, and other families and even people with Down who “self-advocate” — are fighting to improve the education of medical professionals as well as to ensure that parents have access to the resources they require to raise strong members of society.
Not impossible. Thanks to advances in therapy, people with Down syndrome are starting to do what the rest of us can do, although it may take them longer to learn to do it.
“Down syndrome people are getting driver’s licences, going to college, getting married, becoming public speakers, world-class musicians who play six different instruments,” says Smith. “I’m meeting people every day with stories like that. The world needs to see that! The kids born today, the sky’s the limit!”
At the Stein house in Forest Hill, the current challenge is for Betsy to stay in West Preparatory Junior Public School, which she has attended since first grade with the help of the same special needs assistant through the years.
Now that she is in Grade 3, the academic gap between her and her classmates is widening significantly. And so the Toronto District School Board is pressuring the family to consider other schools in the system that are specifically geared to children with special needs.
As Kenny Stein, Betsy’s father and Cindy’s husband, points out, “West Prep is where the real world is.”
And the real world is where Betsy most certainly is headed.
“We’re not aspiring for her to be a cardiologist,” adds Cindy, “but she has every chance of having a job in society, in the community, and working and doing — and real-life skills are part of that.”
The TDSB requires that Betsy undergo a series of tests and reviews, which her parents fear will result in further labelling, busing Betsy out of her community, and setting her back socially, emotionally and academically.
That despite how West Prep purports to offer “special education” — thought it hasn’t delivered as much Betsy needs or is entitled to get, her parents contend. So for the Steins it’s a constant battle with the board, the teachers, the union.
“At this stage of Betsy’s life, you move her to any school wherever it is, TDSB, private or otherwise, she becomes a little girl who has Down syndrome — and her name is Betsy Stein,” says Cindy. “At West Prep, she’s like Norm from Cheers. Everybody knows her name: Betsy Stein. And she happens to have Down syndrome. It’s secondary to her name and personality.
“Betsy has humbled us, she has taught us, she has slowed us down, she has made us stop and smell the roses,” Cindy continues. “If there was more of all of that in life — forget about Down syndrome for a minute — we’d have a better society.”
For Skotko, the situation for people with Down syndrome is approaching those experienced historically by women struggling for equality, African-Americans fighting for civil rights, gays and lesbians seeking rights.
“Now is the moment where people with Down syndrome and their family members have joined the debate about their own condition,” says Skotko. “Like the groups before them, their self-descriptions contrast with the way in which others might describe them. But an open question is going to be, will society embrace their self-descriptions or will it cling to society’s old perceptions? Certainly people with Down syndrome are teaching us that they haven’t witnessed all the possibilities yet as they continue to meet higher and higher expectations as more opportunities become available to them.”
Noah’s Dad agrees.
“It’s really an exciting time to be born with Down syndrome because there have been so many advances in technology, in research and in terms of treatment, so people can live lives that they have never been able to live before,” enthuses Smith.
“But, on one side, science makes it easier to get rid of a life and, on the other end, science is trying to show the world that being born with Down syndrome is okay.
“We all feel that we are in a race against science.”