She offered instructions — friendly warnings, really — to every doctor and nurse she saw. No one in the delivery room needed to feel sad or concerned, and, above all, no one should say they’re sorry.
Janise Turso was ready to welcome her much-studied daughter.
For months, doctors had used three-dimensional ultrasounds to spy on her in the womb, and already there were slides of her chromosomes. Genetic experts speculated on both her current condition and future potential, while Janise and her husband, Andy, amassed their own private mountain of information, too.
The only thing left to do was be happy.
“I know this baby has Down syndrome, and I’m cool with it,” Janise told hospital staff members. “ I want this to be a joyous occasion. Just like any other birth.”
Anna Maren Turso arrived at 3:29 p.m. on May 28, a month early but otherwise healthy. A few people at Riverside Methodist Hospital did cry, but not because despair was in the room.
“As soon as I saw her head come out, I just burst out laughing,” Janise said. “We’ve seen so many ultrasounds of her, had so many meetings about her, and we’ve done so much research. To finally see her was just amazing.”
The dark-haired girl weighed
4 pounds, 6 ounces, and all the prenatal fuss about her suddenly seemed outsized.
“Hey,” Janise whispered to her new daughter, “it’s you.”
Because the Tursos knew about Anna’s genetic condition long before her birth, the new-baby joy that ultimately enveloped them didn’t travel the usual path. It had to be decided upon, accepted and claimed.
Expectant parents who receive a prenatal diagnosis of Down syndrome confront a host of frightening facts and emotions, not to mention one whopper of a question: Should we continue this pregnancy, committing to care for a child who is certain to have intellectual disabilities and possibly physical ones, too?
The answer is profoundly personal. But its implications ripple broadly, through science and society and, perhaps most jarringly, the lives of families who already include a person with an extra 21st chromosome.
National and local advocates feel as though they are engaged in a high-stakes campaign to counter the image of a grim diagnosis and a bleak future.
“It’s a picture of a life painted in such a dim light,” said Nancy Whetstone, president and CEO of the Down Syndrome Association of Central Ohio.
Most parents don’t know for certain that their baby has Down syndrome until after the birth. But among women like Janise, who opt for prenatal testing and receive a definitive diagnosis, studies have found that an estimated 92 percent worldwide choose to have an abortion.
The actual number in the United States, including its fluctuations and trends over time, isn’t known because state and federal abortion statistics don’t track women who terminate pregnancies because of a prenatal diagnosis of Down or another condition.
“It just really makes me sad because Jonathan’s been such a blessing, not only to my husband and me, but to others,” said Ginger Shaw, a Newark mother whose 23-year-old son has the condition. Ethical discussions, however, are pressed to keep up with science. A new, noninvasive blood test that became available in October promises to predict the probability of Down syndrome in a fetus earlier and more accurately than ever before.
Researchers expect that more women will want the test, eventually increasing the numbers of parents who receive prenatal diagnoses for Down, the most-common genetic cause of intellectual disability. About 400,000 people in the U.S. have the condition, which affects about 1 in every 700 births.
“One of the fears with this new testing is that there’s going to be an even-larger population of babies not born,” Whetstone said. The Down syndrome organization does not take a broadly anti-abortion position. But where Down syndrome is at issue, “We do take the position that we want a well-informed public,” she said.
Andy and Janise knew nothing of such concerns last fall, when a technician first saw something troubling on the ultrasound screen.
“She kept talking and talking, and then she got really quiet,” Andy said. “We knew something wasn’t perfect.”
Janise had just turned 41, so the Tursos knew the possibilities. The risk of Down syndrome increases with the mother’s age, going from about 1 in 1,000 for a 28-year-old to 1 in 100 at age 40.
Their doctor had even advised the couple to have “the conversation” before trying for a sibling to join son Will, 4.
“We decided at that time that if anything was wrong — like Down syndrome — we would terminate,” Janise said.
“It’s easier in the abstract.”
There was nothing abstract now. Janise was 12 weeks pregnant. The maternal- and fetal-medicine specialist was scrunching his face as he looked at the screen, noting a suspicious, but not definitive, thickening in the back of the neck. Janise now knows that there are other signs, such as a missing pinky bone and an absent nasal bone that makes ultrasound images of the nose look especially cute.
She would need further blood screening and then an amniocentesis to know for sure. Andy remembers hearing the doctor say something about how there still would be options available then. He reached for his wife’s hand.
They scheduled the amnio for three weeks later, on Dec. 23, and decided to keep their plans to go on a family vacation to the Caribbean island of St. Lucia.
There, against an almost-surreal backdrop of blue skies and ocean breezes, they sat by the water and burned up their wireless connections with Internet searches on Down syndrome. Andy, 40, and Janise, now 42, are college-educated, and both work in the textbook industry. Self-described news junkies, the Short North couple make a living plying knowledge. Their instinct was to learn.
“Andy was still pretty positive at that point,” Janise said. “I felt like I knew. I just knew it was happening.”
She was on a business trip in Morgantown, W.Va., when a phone call from the doctor’s office said the results of another blood test put the chances at 1 in 5.
“The discussion we had then was, if somebody tells you there’s a 20 percent chance of rain, you don’t leave home with an umbrella,” Andy said, smiling.
Their doctor performed the amnio two days before Christmas, using a needle to extract the amniotic fluid that allows for an analysis of fetal cells. Because of the holiday, the Tursos had an extra-long wait for the answer.
Carolee Noonan, a genetic counselor at Riverside, phoned the following Tuesday. “We hung up the phone, and it was almost a relief,” Janise said. She and Andy looked at each other, held each other and talked softly about strength and hope and love.
This was their daughter, and they knew they were going to have her.
“I feel like there’s nothing we can’t handle,” Andy said. “Most people just don’t get tested like this.”
He confessed that there was one more thing in the genetic report that troubled him: two X’s in the gender column. “I’m more freaked out by the idea of having a girl than I am by having a child with Down syndrome,” he said.
He and Janise laughed, ready for whatever was to come.
Down syndrome comes with a wide range of symptoms and effects, the Tursos learned.
Some, such as the congenital heart defects and digestive problems that occur about half the time, can be diagnosed shortly after birth or even prenatally and treated with surgery in many cases.
Low muscle tone; short stature; an upward slant to the eyes; and a single, deep crease across the center of the palm are other characteristics that frequently occur. Vision and hearing problems are fairly common, too.
But one of the questions that weighs heaviest on parents might not be answered for months or years.
“People want to know whether their child is going to be high-functioning, low-functioning or somewhere in between,” said Dr. Patricia Nash of the Down Syndrome Clinic at Nationwide Children’s Hospital. “I get that question a lot.”
Sometimes, the people most desperate for clues are trying to decide whether to continue a pregnancy. They feel as though they could manage a best-case scenario. They’re not sure about the worst.
Nash recalls one couple who had seemed ardently anti-abortion but then struggled with their convictions after receiving a prenatal diagnosis of Down syndrome. They feared that the child would suffer, if not physical pain then ridicule, and they worried about ascribing the role of future caregiver to one of their other children.
All people with Down syndrome have mild to moderate intellectual disability, the preferred term for mental retardation. That often makes it difficult for them to live independently.
“They were so torn,” Nash said. “I remember asking them, ‘Do you wish you didn’t know?’ And they said yes. But you can’t go back and unknow something you know.”
She never saw them in the clinic with a baby, so she can only guess the decision.
Janise and Andy say they understand why some people might not want the testing. But for them, it was better to know. They had time to research, to prepare, to make peace.
“I wanted all that behind me so that I could just enjoy the rest of my pregnancy,” Janise said.
Now, they’re enjoying Anna’s first year. They feel lucky already because her heart is strong and she is healthy.
“I know there will be challenges,” Janise said, cradling her sleepy daughter. “OK, she’s probably not going to MIT. But she’s an awesome, awesome girl. How could you not just love all this cuteness?”
Anna started receiving services and in-home visits through Franklin County’s Help Me Grow program when she was just days old. Early intervention can go a long way toward lessening the severity of both physical and cognitive delays, experts say.
Physical therapist Vicky Macklin of the Childhood League Center shows the Tursos lots of techniques and activities that can help Anna strengthen her muscles and control her tongue-thrusting. She reminds them not to expect too much or to push too hard.
“Follow her lead,” Macklin says. “She’ll let you know when she’s had enough.”
Andy and Janise say the support they receive through the local Down syndrome association and from other parents is a lifeline. “It’s like a whole network that goes into action,” Janise said.
That makes it easier to shake off the occasional barb. Andy said one genetic counselor told them, matter-of-factly, that Anna would not mature beyond the level of a 9-year-old.
“They believe in limits,” Janise said. “I don’t believe there are limits to what she can achieve. You have to believe in your heart.”
What shouldn’t be lost in what is now an international discussion about prenatal testing, pregnancy termination and Down syndrome is how people with the condition feel about their lives, said Dr. Brian Skotko of Children’s Hospital Boston. He and two colleagues published results in October from three related surveys that found largely positive experiences for people with Down syndrome, their parents and their siblings.
“The No. 1 common response was ‘I’m happy,’” said Skotko, who has a sister with the condition. “ That, to me, of all the research I’ve done to date, is the most meaningful.”
However, Skotko acknowledges that the surveys are subject to “selection bias.” Because there is no population-based registry for Down syndrome, respondents were taken from the mailing lists of Down-syndrome organizations, and they tended to be white and middle- to upper-middle class.
Still, Skotko thinks such reports should be used to balance what he says is sometimes inaccurate, incomplete and offensive information about Down syndrome from health-care providers. As a result, expectant parents might seize on only the negatives, he said.
“They’re talking to someone who can only relate the medical information,” said Marge Barnheiser of the Down syndrome association. Her daughter, Aly, is 25 and has the condition.
“What’s not shared is that they are just so inspiring. They change you and change your family, yes,” Barnheiser said. “But often for the better.”
Kyle McKay, 22, has Down syndrome and serves on the board of the local association. He lives in his parents’ Upper Arlington home and works an information desk at Ohio State University Medical Center.
McKay says he’s glad for the chance to show that many people with Down syndrome have busy, meaningful lives. “I’m a self-advocate,” he said. “It’s good to express yourself, and I like being a role model.”
He also likes sports, playing the guitar and hanging out with his sister, Alison McKay, 28. Alison said her love for her brother helped cement her decision to become a lawyer specializing in disability rights.
“I see disability as a natural part of life,” she said.
She thinks society is becoming better at accepting differences now that more people with disabilities are visible, working and living in their communities instead of in institutions.
The termination rates, whether they are as high as some studies indicate or something lower, trouble Alison, but not because she thinks that parents of children with disabilities should expect others to happily jump into the same boat.
“The reason all this is so hard is that it makes me, in one sense, feel as though they’re saying that having Down syndrome is not a life worth living,” she said. “Kyle is my blood.”
The future bond between son Will and his little sister is often on the minds of Andy and Janise, too. So far, they know that he loves to kiss her.
The occasion of Anna’s christening at St. Christopher Catholic Church on a late-October afternoon drew family from Arizona, Florida and New Jersey and friends from throughout central Ohio.
Most everyone was beaming.
“She’s a blessing in so many ways,” said Jill Hollon, Janise’s sister. “Anna’s worked all kinds of miracles already in her little life.”
Soon, doctors and developmental experts say, Andy and Janise might notice that their younger child has a particularly high emotional I.Q., or uncanny sensitivity to the family dynamic. Although many of the popular assumptions about people with Down syndrome don’t hold true — they are not, for example, happy all the time — there is a lot of evidence that they are loving and insightful.
Dr. Murugu Manickam, who sees patients in the Adult Down Syndrome Clinic at OSU Medical Center, knows that those are among the traits that so endear children and adults with Down syndrome to their families.
“They have an extraordinarily strong empathy,” he said. “They know when something’s up, when someone in the family is sad or upset.”
John and Donna Andrews came to Anna’s christening with their daughter Kelsey, 24, a Special Olympics athlete who has Down syndrome. They would be the first to admit that life isn’t easy. But that acknowledgement shortchanges the joy, they said.
“The thing about kids with Down syndrome is that they give so much more to the world than they get,” John Andrews said.
He paused, his eyes filling with tears as he tried to think of another way to explain Kelsey’s heart.
“At Christmas, she doesn’t care what she gets,” he finally said. “She cares if everyone else is happy.”
Today, the Tursos are again in St. Lucia, where one year ago they spent the strangest of vacations, unsure of everything except their love.
“You most fear what you don’t know,” Janise said.
They know their girl now. She’s wearing a hot-pink swimsuit and her first pair of sunglasses.
Be gentle.
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