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Down Syndrome?

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Okay, here’s my story.

I’m thirty-one years old and expecting my second child. I have a ten-year-old daughter who was born with congestive heart failure who wasn’t diagnosed until she was five months old and very ill. When my OB told me about this full-integrated scan that’s offered now to check for chromosomal problems, my fiancé and I decided to have it done just in case there was a problem, even though there is no history on either side of our families.

If you aren’t familiar with this test (which I wasn’t), it involves the following: around ten to thirteen weeks, you have an ultrasound where they measure the thickness of the back of the baby’s neck and take other standard measurements of the baby and they also draw your blood. About three weeks later, you have your blood drawn again and they put everything into a computer and you get some sort of result back saying if you are at risk of having a baby with a chromosome problem. (Once again, we were not worried because we have no history of this in our families.)

At about eleven and a half weeks, I had my scan done, but did not get past the ultrasound part of it. When the tech took measurements of my baby, the measurement of the back of the neck was about .4 centimeters thicker than normal. The tech left the room to get the doctor and there I sat thinking everything was okay. In walked this very nice doctor who proceeded to sit down and tell me about this measurement. Since the back of the neck was measuring thick right off the bat, they wanted to do another test on me called a CVS (Chorionic Villus Sampling). During this test, a biopsy of the placenta is obtained through a ultrasound guided procedure that they could do right then and there. This test will give them the chromosomes of the baby and will give us a more accurate explanation of what’s going on.

I immediately started shaking and crying and decided to let them do the test (once again, thinking nothing was wrong because it was just going to be a big baby). They would have a partial result for me in twenty-four hours, but it would take about a week for the final results to come back. This was all done on a Tuesday. The next day I received a call from the genetic counselor telling me that my baby was going to have Down Syndrome and that this test was 99.8 percent accurate. I couldn’t believe it. This was the worst day of my life … or so I thought! Oh yeah, the one good thing about this test was that it also checks the sex chromosome and we found out we were having a boy!

That Friday, my fiancé and I went to meet with the genetic counselor to sit down and discuss the results of the test and to talk a little bit about Down Syndrome. After leaving the appointment, we decided to stop in and see my mother, who was in the hospital just a few blocks away. She had been transferred to this hospital from another hospital because they couldn’t figure out what was wrong with her. She had already been hospitalized for two and a half weeks and all the doctors could tell us was that she had an infection in her abdomen but didn’t know where the infection was coming from.

This new hospital was better equipped with more specialists and this was the next step in my mother’s care to figure out what was wrong with her. My mother looked great that afternoon. That evening, my father called me from the hospital to tell me that my mother’s heart had stopped and the doctor’s were working on her as we spoke. We immediately left for the hospital. By the time we arrived at the hospital, my mother had passed away … this was the worst day of my life!

Now here I am, sixteen weeks pregnant with a son who they tell me has Down Syndrome and no mother to turn to for help. I believe the doctors with the test results, but I am just having a hard time accepting the fact that this is what I’m going to have to deal with. I am not a real religious person, but I believe that god only gives us what we can handle and he feels we can handle this because he saw what I wet through with my daughter. Once again, I just have a very hard time accepting this, but he is my first son and I will love him no matter what!


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