You may think that people who have Down syndrome (DS) aren’t capable of the same things as you. That may be the biggest misconception out there about the condition, caused by an extra copy of chromosome 21.
“The most important thing for people to know is that individuals with DS may have different abilities, but they are completely capable of learning, living independently, working and doing anything any other person can do,” says Christy Klaus, family support coordinator for the Down Syndrome Association of Greater St. Louis (DSAGSL). “There is a saying that’s used a lot in the Down syndrome community: We’re more alike than different. And this couldn’t be more true.”
Down syndrome causes a variety of potential physical and developmental challenges. However, prenatal testing can identify the condition in pregnancy so parents have time to adjust and prepare before the baby is born.
Asked whether she encourages expectant parents to test for Down syndrome, Dr. Janet Mueller says, “Knowledge is good, and the more information someone has, the better able they are to make decisions and understand what lies ahead.” Mueller, a pediatrician with Mercy St. Louis speaks from personal experience: Her 14-year-old daughter has DS.
While Mueller recognizes the value of being fully informed, she notes that how information is handled and shared with expectant parents is important to their ability to process and plan for a child with DS. “Learning that your baby has Down syndrome can be overwhelming, and it can seem devastating if the test results are presented as a terrible tragedy,” she says. “But it doesn’t have to be that way. In fact, if parents are given accurate information presented in a helpful way, they can digest the news, prepare, and be ready to enjoy their baby when he or she is born.”
Planning can begin with the DSAGSL, which offers a ‘Down Comforter’ resource packet to parents who receive a confirmed or possible prenatal Down syndrome diagnosis. “Our expectant parent packet contains books, a DVD and other helpful information,” Klaus says. “We also can connect expectant parents with other parents who had a prenatal diagnosis, we have an extensive lending library at our office, and many of our expectant parents attend our special events or community group meetings. When their baby arrives, they feel informed and well connected to the Down syndrome community.”
That community is flourishing in St. Louis, Mueller says. She points to the DSAGSL and the Pujols Family Foundation as local resources that provide a wide array of services for individuals who have Down syndrome and their families. “These organizations really focus on celebrating life, and life with Down syndrome,” she says. “They are both real gifts to our community, and word is spreading—people who have a family member with Down syndrome are hearing about what St. Louis has to offer and even moving here because there is such strong support.”
New research in mice is beginning to unlock the secrets of genetic abnormalities like Down syndrome and is even providing clues about potential ways to ‘shut down’ specific chromosomes and possibly block their expression. This could someday provide a way to ‘turn off’ the extra chromosome 21 and prevent or reverse the unique characteristics related to DS.
Given the choice, however, Mueller isn’t sure whether she’d want to tamper with her daughter’s chromosomal makeup. “As a parent, of course I’d like to make her life easier and smooth the way, but I wouldn’t want to change who she is,” she says. “She’s the happiest kid I’ve ever seen. She has friends, family and teachers who all love her, and she loves them back. Who would want to change that?”