Upon diagnosing her unborn child with Down syndrome, doctors informed Beth Allard of the number of weeks she had left to choose termination.
Diagnosis deliveries like that one have inspired several laws aimed at getting up-to-date information and support to women like Allard. A national law passed in 2008 and two state laws — passed in Virginia in 2007 and Missouri in 2011 — have so far made little impact. The most recent law, passed in Massachusetts last June, has advocates much more hopeful.
Need for information
Allard, who lives in Massachusetts, said of Ben, her now 13-year-old son, “He’s absolutely amazing. He’s funny. He just inspires us every day. The littlest things make him happy.”
|Massachusetts Gov. Deval Patrick signs the Massachusetts legislation into law last June. Newscom/Massachusetts Down Syndrome Congress
But when Ben was in utero and Allard and her husband were first-time parents, she was scared. Doctors delivered the diagnosis and proceeded to tell her that her son would never read or write and that his presence would ruin their happy marriage. Allard told Our Sunday Visitor that she felt “so alone” and wishes now that she could have connected with another mother of a child with Down syndrome.
Although she did not know it at the time, Allard was not alone. Negative information and the suggestion of termination often accompany the prenatal diagnosis of Down syndrome.
A survey conducted by Dr. Brian Skotko, a board-certified medical geneticist and co-director of the Down Syndrome Program at Massachusetts General Hospital, showed that the majority of women whose children were diagnosed with Down syndrome in utero “expressed frustration with the process.”
“Nearly all of them thought their obstetricians had failed to provide enough up-to-date printed material on DS,” Skotko’s 2005 findings showed.
Many women also reported that health care professionals had given them misinformation and used dehumanizing labels when referring to their children.
Skotko’s report went on to say that diagnoses should be given in person with both parents present, and that doctors should use sensitive language, provide accurate information and speak about the positive aspects of Down syndrome along with the negative. It also recommended offering parents contact information for local Down syndrome support groups.
Virginia’s 2007 law was the first to address Down syndrome diagnosis. After receiving a positive test result, the law mandates that women receive “up-to-date, scientific written information” about Down syndrome. The health care provider has the option to “provide a referral to support services providers.”
|Understanding the Disorder
Down syndrome, also called Trisomy 21, is a genetic disorder that may coexist with health conditions including heart defects, gastrointestinal problems and respiratory illnesses. Often, a child with Down syndrome has delayed speech and cognitive development as well as low muscle tone. Early intervention, including physical therapy and surgeries, can lessen the impact of these medical conditions.
Missouri’s 2011 law requires doctors to provide parents with information as well as contact information for support services.
Both the Missouri and Virginia statutes only apply to prenatal diagnoses, but the national Prenatally and Postnatally Diagnosed Conditions Awareness Act includes both prenatal and postnatal diagnoses. Also, the national law is meant to facilitate rather than mandate the dissemination of information and support services.
Advocates for people with Down syndrome say that the Virginia, Missouri and national statutes have been underfunded and had little effect.
Heather Trammell, director of parent support for the Down Syndrome Association of Northern Virginia, called the Virginia statute a “nice law that hasn’t gotten off the ground.”
Amy Allison, executive director of the Down Syndrome Guild of Greater Kansas City, which serves 37 counties on both sides of the Missouri/Kansas state line, said she has not seen the Missouri law impact prenatal diagnosis.
“I still get parents calling and saying they’ve had a bad experience from their doctor and had to find us on their own,” she said.
The Massachusetts law, passed June 22, is the most comprehensive legislation passed so far. Like the Missouri law, it mandates both the dissemination of information and support services. Like the national law, it includes both prenatal and postnatal diagnoses.
Maureen Gallagher, executive director of the Massachusetts Down Syndrome Congress, said she has already scheduled an appointment with the Department of Public Health, the state agency responsible for implementing the law. She said the two organizations have a very good relationship and hope to work together with medical providers.
“Our intention was to augment the federal legislation so that we could develop a relationship within our own Commonwealth,” she said.
Skotko said that the Massachusetts legislation can serve as a model for other states.
“I think what is significant about our state is that people from both sides of the political aisle, people from all different opinions and relationships to the ethical questions that are embedded in pregnancy, were able to find common ground in this bill,” he said.
Proponents of the Massachusetts law tout it as pro-information and sidestep the abortion debate. The vast majority of children with Down syndrome diagnosed in utero never experience a birthday. Three U.S. studies have estimated abortion rates at 87, 95 and 98 percent.
Earlier and more accurate prenatal testing for Down syndrome means that more parents will know their children have the condition before they are born. Last October, a noninvasive blood test that is 99 percent accurate was introduced in 20 major cities in the United States.
Life worth living
Many supporters of these laws hope that their effect will be that more parents understand that life with Down syndrome is worth living.
What it means to have the condition in 2012 is far different than just a generation ago. Life expectancy has quintupled in the last 100 years, increasing from 12 years in 1912 to 60 years in 2012. People with Down syndrome were once raised in institutions but are now brought home. Many of them drive, work, marry and hold college degrees.
Katie Kiley, a Catholic from West Roxbury, Mass., said she hopes more parents come to understand the blessing of a child with Down syndrome like her 16-month-old daughter, Julia, whom she called “magnetic” and “exuberant.”
“She’s so joyful,” she said. “There’s something therapeutic about her.”
While Kiley hopes her daughter will be the “best Julia she can be,” her functionality does not determine her worth.
“She’s a person and that’s why she has worth, and she’s created in the image and likeness of God,” she said.
Christine M. Williams writes from Massachusetts. For more information on the Massachusetts Down Syndrome Congress, visit www.mdsc.org.