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Down syndrome's rewards touted as new test looms

/ Source: contributor

David and Annelies Reilly had dozens of questions swirling in their minds when doctors diagnosed their newborn daughter, Melissa, with Down syndrome.

Could she learn? Would she go to school? Could she ride the bus alone? Could she live a normal life? Could they?

Melissa, now 25, is successful by any measure. The college student is a speaker invited to inspire others around the country. She travels to represent the Down syndrome community internationally, and is a Special Olympian who brings home gold medals in skiing, cycling and swimming. Additionally, she interns for a Massachusetts state senator and tutors pre-school students with Down syndrome in math and reading.

“She has taught us compassion for those who are not as strong or so-called perfect and beautiful,” says Annelies Reilly of Boxborough, Mass. "We see her as perfect and beautiful.”

Inspiring portrait of Down syndrome at odds with perfect baby pursuit

The Reillys represent some of the experiences reported in three surveys conducted by doctors at Children’s Hospital in Boston that suggest the reality of Down syndrome is positive for a vast majority of parents, siblings and people with Down syndrome themselves.

Among 2,044 parents or guardians surveyed, 79 percent reported their outlook on life was more positive because of their child with Down syndrome

This is particularly relevant as a new blood test to determine Down syndrome early in pregnancy is expected to be available within months.

Dr. Brian Skotko, a clinical fellow in genetics at Children’s Hospital Boston and lead study author, says he hopes the research on more than 3,000 Down syndrome patients and family members published in the October edition of the American Journal of Medical Genetics, will serve to better inform expectant parents and clinicians providing prenatal care.

“So many American women who are pregnant are getting prenatal diagnoses of Down syndrome, and then they ask all those pertinent, relevant questions: What does this mean for my family? What does this diagnosis mean for my marriage? What impact will it have on my other sons and daughters?” Skotko says.

Skotko also found that among siblings ages 12 and older, 97 percent expressed feelings of pride about their brother or sister with Down syndrome and 88 percent were convinced they were better people because of their sibling with Down syndrome. A third study evaluating how adults with Down syndrome felt about themselves reports 99 percent responded they were happy with their lives, 97 percent liked who they are, and 96 percent liked how they looked.

“I love my life 100 percent,” says Melissa, explaining that her brothers’ and sister’s friends are her friends, too, and she accompanies them on outings and vacation. “I love my life for the things I do, and the places I go. We are one happy, loving family.”

Each year, about 6,000 or one of 691 babies is born with Down syndrome in the United States, reports the Centers for Disease Control and Prevention. The chromosomal disorder carries a range of intellectual impairment and other health problems, including heart and stomach defects, a weak immune system, poor hearing -- and a shorter lifespan. Some with Down syndrome, like Melissa Reilly, are high-functioning, loving and quite healthy. Others, though, are so severely disabled they cannot communicate. Even on the healthier end of the spectrum, people with Down syndrome tend to die younger, in their 50s. 

Currently, some pregnant women get blood tests and an ultrasound to find out if the fetus is considered at risk. But a definitive diagnosis requires sampling amniotic fluid or the placenta – and invasive procedure that carries a small — but unnerving —  risk for miscarriage.

Thousands of women a year opt to terminate pregnancies when their unborn child has Down syndrome. Some estimates put that number as high as 90 percent, according to Boston’s Children’s Hospital.

But soon, the first non-invasive and inexpensive blood test will allow pregnant women to know if their fetus has Down syndrome in the early weeks of pregnancy. The test, expected to hit market later this fall, detects fetal DNA in a mother’s bloodstream.

Bioethicist Art Caplan says the ease of this test raises the possibility that Down syndrome will slowly disappear from our society.

Skotko, the genetics researcher, also has a 31-year-old sister with Down syndrome. He says she is the inspiration for his practice and research on the condition and that it's critical for families to receive accurate and unbiased information, and they should know raising a child with Down syndrome can be a fulfilling and rewarding experience.

“Now, we have heard from 3,150 family members around the country on what this is like. This information will be very helpful as women make many personal and profound decisions about their pregnancies.”

Caplan, a professor of bioethics at the University of Pennsylvania and columnist, notes that the findings are limited by the fact that the families willing to document their experience in a survey tend to be those with a Down syndrome child on the healthier and more high-functioning end of the spectrum.

Still, he says the study provides powerful data, and an important perspective that has been hard to hear, but may not change people’s minds.

“Even though society has learned more about what Down syndrome can do, it still turns out that some prospective parents won’t be willing to accept that story,” he says. “I’m not saying it’s not important to tell that story or explore impact on families or what it can mean for the child themselves, but it may not have a huge impact in a society that’s so obsessed with perfect children, competition, better performance and plastic surgery enhancement.”

Whether they believe it or not, Skotko says, “These results will be quite shocking to many Americans, who might have some misperceptions about what it means to have Down syndrome. Family members have spoken and have said life is positive with Down syndrome.”

Kimberly Hayes Taylor is a health writer based in Detroit. A former staff writer for newspapers including The Detroit News, Minneapolis Star Tribune and The Hartford Courant, she's also written for magazines such as Essence, Black Enterprise and Decisive. Her latest book is "Get It Up: The Ultimate Guide to Overcoming Erectile Dysfunction."