Down Syndrome

What is Down Syndrome?

"Most people have 46 chromosomes, which are the filing cabinets for our genetic blueprints or genes," says Dr. W. Carl Cooley, medical director at the Crotched Mountain School and Rehabilitation Center in Greenfield, New Hampshire. "Genes provide directions to the systems in our bodies determining their structure and function. People with Down syndrome have 47 chromosomes due to an extra chromosome No. 21." Dr. Cooley says that Down syndrome, sometimes referred to as Trisomy 21, results in an "overdose" of somebody chemicals or proteins that are programmed on the 21st chromosome.

According to the National Down Syndrome Society (NDSS), Down syndrome occurs in approximately one of every 800 to 1,000 live births. And contrary to popular belief, 80 percent of babies born with Down syndrome are born to women younger than 35. There's no way to prevent it. It's not caused by something the mother did or didn't do during her pregnancy, but the exact cause has not been discovered.

Receiving the News

Sue was 26 years old when she had baby Marc. Sue was a registered nurse, and, aware of the possible problems that can occur during a pregnancy, she asked her doctor for an amniocentesis. She was told she was too young and had nothing to worry about. Sue had a good first pregnancy without any complications. During Sue's 38th week of pregnancy, Marc entered the world. He was just 3 hours old when his parents were told he had Down syndrome.

Rachael was 22 years old when she had baby Abbey. After a full-term and uneventful pregnancy, Rachael gave birth. After two weeks, her doctors were suspicious and ordered tests from another lab. The results validated their suspicions: Abbey had Down syndrome.

These couples reacted as any loving parents would. At first, Sue and John were surprised, while Rachael and Troy say they were in denial. "Overall, the news that Marc had Down syndrome was difficult, but it never took the love we felt for him," Sue says. "Like all new parents, we grieved the child we had imagined during my pregnancy. We had imagined him or her and fantasized how he would be, but reality quickly sank in."

"I cried as soon as I heard, but it only took a few days before it sunk in and I realized it didn't really matter," Rachael says. "It wasn't until we found out about her heart defect that I became terribly upset, scared, and angry. Troy was great from the start. As soon as he was told, he said, 'She's just a special little girl—that's all.'"

Most parents require some adjustment to the situation. "There is much to discuss with parents about this diagnosis," Dr. Cooley says. "Every parent has different needs, different personal and cultural backgrounds, and different resources affecting their response to this news. I remind all parents that their new baby is first a baby and new family member and that Down syndrome should remain a secondary, though obviously important, factor."