When Beth Allard was pregnant with her son, Ben, her doctor found some abnormalities during a routine ultrasound and told her, "This is not good news."
Amniocentesis revealed that the fetus had Down syndrome, a genetic condition that causes developmental disabilities. But what disturbed Allard more than the diagnosis was the way the doctor told her the news.
"They called me at work to tell me, and then said, 'You have two weeks to decide if you're going to keep this child. Either way, it's an awful thing,'" Allard said.
Allard said she was told her child wouldn't be able to read, write or live any sort of productive life. Outside of that, her doctor gave her no further information or resources, she says.
"They were very negative throughout the whole thing," she said. "I cried every day. I was so scared."
Allard is not alone. In a recent survey, mothers of children with Down syndrome reported physicians are overwhelmingly negative when diagnosing fetuses and newborns with Down syndrome, often advising the mother to discontinue the pregnancy or to put the child up for adoption.
The findings have fueled a complicated debate over termination of fetuses diagnosed with a disability, with abortion opponents citing the survey as proof doctors can influence a woman's decision to keep her baby or not. It has also spurred action in Washington with the introduction of the Prenatally Diagnosed Condition Awareness Act, which would require that women whose fetus is diagnosed with Down syndrome or other conditions be provided with medical information and referred to support groups.
"My prenatal study says that mothers feel they are getting an inaccurate picture of Down syndrome, often without the most current information and balanced description of the possibilities and realities," said the author, Brian Skotko, a joint-degree student at Harvard Medical School and Harvard's John. F. Kennedy School of Government, via e-mail. "This, of course, is coming at a critical time when many mothers are deciding whether or not to continue with their pregnancies."
Skotko mailed an 11-page survey to nearly 3,000 members of five Down syndrome parent organizations and received 1,250 responses, almost 1,000 from mothers who had not undergone prenatal testing and received the Down syndrome diagnosis after delivery. Few called the birth of their child a positive experience.
Down syndrome occurs when an individual has three, rather than two, copies of the 21st chromosome, which alters course and development, according to the National Down Syndrome Society. Down syndrome occurs in about one of 1,000 babies, and the chances of it occurring increases with the age of the mother, according to NDSS. There are approximately 350,000 Americans living with Down syndrome.
Skotko co-authored the award-winning book "Common Threads: Celebrating Life with Down Syndrome," and said he was motivated to conduct the research for the book by his 24-year-old sister, Kristin, who has Down syndrome.
"Kristin is one of my life coaches," Skotko said in his e-mail. "Kirstin has taught me to persevere when life challenges, to smile when others frown, to give while others take. She has taught me to find treasures in hidden places and to understand that happiness really nestles within.
Kristin lives with Skotko's parents outside of Cleveland and works three part-time jobs.
"Physicians often paint a limited picture of today's opportunities for people with Down syndrome, and new parents, with no introduction to Down syndrome, have nothing else to believe," Skotko said. "It is not until they meet other families and receive accurate information that they realize their physicians' words are often limiting."
People with Down syndrome have increased risk for certain medical conditions such as congenital heart defects, respiratory and hearing problems, Alzheimer's disease, childhood leukemia and thyroid conditions, according to NDSS. However, their long-term health outlook has improved. In 1983, the life expectancy for a person with Down syndrome was 25; today it is 56.
"Kristin gives me a charge and a purpose to advocate on behalf of a forgotten segment of society," Skotko said.
After much soul-searching with her family, Allard continued her pregnancy and gave birth to Ben, who is now 6.
It is a decision she hasn't regretted for one minute. "Thank God we went ahead with it," she said. "He's an absolute joy in our lives."
Allard added that Ben, who attends kindergarten at a public school in Franklin, Mass., is doing all the things doctors told her he wouldn't be able to -- and more. Allard also has a son, Max, 2, who does not have Down syndrome.
After Ben was born, Allard became very involved in the National Down Syndrome Congress, and talks to other parents going through the same tough decisions after learning they may have a child with a disability.
"I totally appreciate how somebody feels when they get that information," she said. "It's devastating."
For Allard, the decision to keep Ben was the right one for her and her family, but she says she is not judgmental of parents who may opt to terminate a pregnancy. The most important thing, she says, is that parents be given enough information to make the decision that's right for them and know there are support networks out there.
Based on the comments in his survey, Skotko has come up with the following recommendations for communicating a diagnosis of Down syndrome:
Results from the prenatal screening should be clearly explained as a risk assessment, not as a "positive" or "negative" result.
Results from the amniocentesis or CVS should, whenever possible, be delivered in person with both parents present.
Sensitive language should be used when delivering a diagnosis of Down syndrome.
If obstetricians rely on genetic counselors or other specialists to explain Down syndrome, sensitive, accurate and consistent messages must be conveyed.
Physicians should discuss all reasons for prenatal diagnosis including reassurance, advance awareness before delivery of the diagnosis of Down syndrome, adoption, as well as pregnancy termination.
Up-to-date information on Down syndrome should be available.
Contact with local Down syndrome support groups should be offered, if desired.