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A Blessing in Disguise

Having a Child with Down Syndrome

By Marie-Helen Goyetche

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Are you expecting a girl or a boy? "It doesn't matter as long as the baby is healthy." Classic words heard from a pregnant mom. But couples Sue and John* and Rachael and Troy* were in for an unexpected surprise when they learned their babies had 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, N.H. "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 some body 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. On July 5, 1986, 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. On August 30, 1994, 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.


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