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Mosaic Trisomy 16

Madison was our second attempt at starting a family; our first ended abruptly with a miscarriage at seven weeks. So we were very excited when the pregnancy test confirmed our suspicions. Everything seemed to be going smoothly until an AFP test was conducted at 15 weeks. The physician had left a message on the answering machine to call him. The news we received was certainly not what we expected. The test showed that there was a 1 in 65 chance that the baby had Trisomy 21 (Down Syndrome). We traveled to Little Rock, AR to have an amniocentesis conducted by an obstetrician who specializes in high risk pregnancies.

When we first arrived, we met with a genetic counselor who explained Trisomy 21 to us. It was the most depressing meeting for us because we tried to have hope that everything was going to be OK. However, the counselor was trying to prepare us for what might happen. When the exam started for the amnio, the sonographer placed the ultrasound wand on my stomach. Madison looked one way, than the other as if she was looking for us. We laughed and knew at that point that everything would be all right regardless of what we faced. When the results from the amnio came back it showed that Madison had mosaic trisomy 16.

The genetic counselor was able to locate a woman in Illinois who had a registry of mosaic trisomy 16 babies. She put us in contact with Karen Lange. Prior to talking to Karen we felt as if we faced this genetic disorder alone. There were no resources available and none of the physicians we were seeing were familiar with it. Karen explained some of the challenges she faced and sent us pictures of Shayna and numerous research articles. We felt like we finally had a resource and also had information to educate our physicians. Those pictures of Shayna would serve as a source of inspiration during the difficult times we faced in the months to come. Around the 29th week they noticed that Madison had an irregular heartbeat. An exam would reveal two ASDs, which are common in trisomy babies. The also began to notice growth retardation as Madison began to fall behind on measurements.

The OB induced labor at 36 weeks and Madison was born after nine hours of labor. She weighed 5 pounds 11 ounces and was 18 1/4 inches long. Our prayers had been answered; we had a healthy baby girl. Madison is now 6 months old. According to her cardiologist, one of her ASDs has closed and he anticipates the other will without surgery. She has grown rapidly and currently weighs about 16 pounds and is 25 inches long. She does show some asymmetrical growth and possibly has mild scoliosis. We have recently noticed that her left arm and hand are about 1 cm larger than her right. She attends therapy on a weekly basis to build strength and meet benchmarks appropriate for her age. After we received the results of the AFP our physician and genetic counselor had discussed the option of terminating the pregnancy,. This is a difficult decision that everyone in this position faces. For us, it has been well worth having Madison. Seeing her big smile first thing in the morning confirms our decision.

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