Jan Mueller regularly talks with parents about life with a new baby. And when that baby has Down syndrome, questions abound. Dr. Mueller, a pediatrician with Mercy Children’s Hospital, is medically qualified to answer them. And Mueller also is personally qualified to answer them—her 12-year-old daughter has Down syndrome.
People with Down syndrome carry an extra copy of chromosome 21, and about one in 800 babies born in the U.S. each year has the condition, according to the March of Dimes. Prenatal tests may indicate an increased likelihood that the fetus will be born with Down syndrome, although many new parents are not aware that their baby will have the disorder and its associated physical and mental symptoms.
Such was the case for Mueller, who had no warning that her daughter would have Down syndrome. Her own experience informs her ability to counsel new parents in the same position. “I felt like I was hitting a brick wall at about 60 miles per hour when I found out. It was a real shock for me,” she says. “And so I understand those feelings. It’s normal to feel that way when you’ve planned one thing and something happens that’s very different. But if we’d just known how happy we were going to be and how good it was going to be, we would have laughed instead of cried in those first days.”
While some families are familiar with the condition and well prepared for a baby with Down syndrome, others experience a period of ‘grief and adjustment.’ Yet support abounds. The Down Syndrome Association of Greater St. Louis offers a variety of services and resources. Additionally, Mueller serves on the board of directors for the Pujols Family Foundation, another local organization that provides support to families of people with Down syndrome.
“People with Down syndrome typically have developmental delays and some degree of cognitive impairment. However, their abilities can vary widely. A few people function in the low normal range of intelligence, but most are mildly to moderately developmentally disabled,” says Dr. Dorothy Grange, a pediatrician specializing in genetics with Washington University Physicians and medical director of the Down Syndrome Center at St. Louis Children’s Hospital. She says that early intervention is important for optimal mental, social and physical development. “Special education programs are extremely important in helping people with Down syndrome achieve their fullest potential,” Grange notes. “Many children with Down syndrome can attend regular schools with differing levels of educational support. Most graduate from high school and some may enroll in vocational programs.”
Medical issues that may be related to Down syndrome include a risk of a congenital heart defect, gastrointestinal abnormalities, recurrent ear infections, sleep apnea, vision problems and hypothyroidism. “We are certainly screening for particular health issues right when they’re born, but I think most kids do really well,” Mueller says. To help diagnose and monitor medical conditions, the Down Syndrome Center accepts patients through age 21 and offers access to a variety of medical specialists.
“With strong family support, proper medical care, surgical intervention as needed, and early and continuous educational and developmental intervention, people with Down syndrome can live happy and healthy lives,” Grange says.
Mueller enthusiastically agrees that Down syndrome is not cause for grief. “They’re in the moment, and they’re about relationships,” she says. “If people saw what a joy it is, that would convince them. Kids with Down syndrome are their own best advocates.”
And in many ways, they’re just like anyone else. Mueller laughs as she notes that for her daughter “a party involves the people she loves, some food containing chocolate and good music.” Sounds like a party to me!