Birth Defects and Down Syndrome: Family Stories
Anna
When I was 5 months pregnant, my husband (shown in the photo with Anna) and I went in for our ultrasound. We were about to learn the sex of our little baby, and our hearts raced in anticipation and excitement as we patiently waited. Finally, the tech told us, “It’s a girl…” I smiled and looked at my husband for his reaction, which was also an elated smile. “…but it looks as though she may have some issues.” At first glance, she thought it may be an omphalocele, but she wasn’t sure. We were given the name of a local specialist who would be able to diagnose her defect correctly.
Two weeks later, we met with the specialist. He proceeded to tell us that the defect was not, in fact, an omphalocele, rather a gastroschisis, put us in touch with his colleague that specialized in this defect. The new specialist explained that gastroschisis is a birth defect in which an infant's intestines stick out of the body on one side of the umbilical cord. She made us feel as though this was a fairly common condition, and procedures that our baby would need were fairly simple. It was the recovery time that took the longest.
Eventually we were meeting with the specialist regularly. We also met with the doctor who would perform her surgery. He gave us a rough estimate of 6 weeks to 3 months before our baby would be well enough to be home with us.
Just as we were coming to terms with the upcoming events, I had a regular scheduled prenatal visit, and my doctor asked me if I was feeling the contractions I was having. I replied that I was, but they weren’t painful, so I wasn’t too concerned about them. I was put on bed rest at the hospital for the remainder of my pregnancy. As the long days passed, I received around the clock care from nurses, interns, on-call doctors, specialists and technicians. Finally, after about 3 weeks, our doctor informed me that our baby girl needed to come out. She scheduled my Caesarean-section exactly 30 days prior to my due date. We were so nervous and excited at the same time. We’d finally be able to meet our precious little girl, but we still felt helpless and unprepared for what would happen after her birth.
In the early afternoon of a February day, Anna was born. The doctor showed her to us briefly before handing her to the appropriate staff. We were told all of her large intestine was outside of her body, as well as a fallopian tube. Anna was bandaged carefully before being wheeled through the hallways of the hospital and over to the children’s medical center. Once there, her intestines were placed in a protective "silo." This “silo” was supposed to gently push her intestines back into her abdominal wall with the help of gravity.
After 3 days, the surgeon informed us that Anna was progressing quickly and was ready for her final surgery. They’d gently push the remaining intestines back into her stomach and stitch up her abdomen. Sitting in the waiting room while Anna was undergoing her surgery will remain to be one of the most nerve-wracking moments of my life. Luckily, it was over fairly quickly. Now came the waiting part. We had to see if she could tolerate the pressure of the intestines in her body, then work on being able to digest breast milk or formula. It was about a week before they attempted giving her my pumped breast milk through a bottle. She took to it quickly but would soon fall asleep or lose interest. Eventually she was eating a decent amount, and the doctors and nurses were pleasantly surprised with her very rapid progress. After only 17 days in the NICU, our little Anna was released and sent home with us. It was as if a great weight had been lifted off our hearts and shoulders. We no longer had to drive an hour to see her, no longer had to get updates from nurses, and we were no longer worried about when we’d finally all get to be together. Our little girl was home!
Learn more about birth defects:
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endorsement by CDC, HHS, or any of its employees of the sponsors or
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www.cdc.gov/birthdefects
www.cdc.gov/ncbddd/Spanish/birthdefects/
www.nbpdn.org
www.marchofdimes.com
www.nacersano.org/
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