There is no event so momentous as the birth of a child, and there is no time when accurate information is more critical than when new or expectant parents receive a diagnosis of Down syndrome.
Affecting about 1 in 660 pregnancies, Down syndrome is the most common genetic condition. Still, learning of a diagnosis can be an overwhelming experience. So, new and expectant parents need lifelines of information and support right away.
Not long ago, upon receiving the news that their newborn child had Down syndrome, parents were told that there were “good institutions” for children like theirs. And yet, this spring a young Lexington woman with Down syndrome who just graduated, with honors, with an associate degree in education from Bluegrass Technical and Community College.
What we now know about the lives of individuals with Down syndrome is so different than what we thought we knew a generation ago. Accurate, balanced information makes all the difference in the lives of children and their families — and in the hope with which they approach a diagnosis that was once considered devastating.
This issue has become even more significant with the advent of Non-Invasive Prenatal Screening, simple blood tests administered in the first trimester of pregnancy that can predict the likelihood of Down syndrome with much greater accuracy than previous screening tests. While the new tests are not considered definitive (amniocentesis or chorionic villus sampling is still required to confirm a diagnosis), many more families will receive diagnostic information during pregnancy. The question is: What else will they be told about Down syndrome?
They may be told that their child will have some degree of intellectual disability (true) and will be at higher risk for other health conditions (also true). But are they also told that, according to self-reports, the vast majority of individuals with Down syndrome are highly satisfied with their own lives?
Are they told that studies have found that Down syndrome brings families closer together? Or that sibling relationships are more empathetic in families that have children with Down syndrome? Are they told that there is a national waiting list of families who want to adopt a child with Down syndrome?
Are they also given referral information to local Down syndrome parent groups, so they can find out firsthand what life is like for a family who has a child with Down syndrome? Are they given information about early intervention services, mandated in all states, for children with Down syndrome? The composite of all these facts is what is meant by accurate and balanced information.
The Kentucky General Assembly recently passed what has become known as the Down Syndrome Information Act, requiring health care professionals and facilities that deliver a diagnosis of Down syndrome, either prenatally or at birth, to provide the family with accurate, written information about Down syndrome and referral to support organizations.
This legislation, introduced as Senate Bill 34 by Republican Julie Rose Denton, passed unanimously in both houses and was signed into law by Gov. Steve Beshear on March 14. The bill was modeled on similar legislation passed in Massachusetts, and other states are expected to follow.
To implement these laws, both Massachusetts and Kentucky rely on materials provided through the National Center for Prenatal and Postnatal Down Syndrome Resources (www.downsyndromediagnosis.org ), housed at the Human Development Institute at the University of Kentucky.
The center’s products are available as free downloads, and several are also available in Spanish. The Center’s materials have been endorsed by the National Society of Genetic Counselors and in the newly published prenatal testing guidelines of the American College of Medical Geneticists and Genomics. The Center’s “Understanding a Down Syndrome Diagnosis” booklet and its "Brighter Tomorrows" website (www.brightertomorrows.org) are the only materials so recognized.
Kentucky’s Down Syndrome Information Act shows that there are still some things we can come together on, regardless of whatever political differences may divide us. As the center's director, I am very proud that our work is one more way in which the University of Kentucky is having a very real impact on families throughout our Commonwealth and the nation.