Friday November 12, 2010

Yesterday, my best friend in the whole world had beautiful twin girls. It was difficult to spend the day in the maternity ward, but also encouraging to know that life goes on and it will go on for us as well. This morning we met with the genetic counselor, she didn't have any information that really changed anything, but did help clarify some things for us. My first question was, “before we had trisomy 18 we could fix his heart and intestines, why can't we still do that? What exactly changed with the t18 diagnosis? The genetic counselor gave the following explanation; the chromosome error that causes t18 occurs before conception with either the egg or the sperm, there is no way of knowing. The body divides its chromosomes (because we have 23 pairs) in half basically as it forms the egg/sperm. In our situation there was an error with chromosome 18 and instead of dividing one and one it divided two and zero. Then those 2 met up with the other parent's one it made three 18 chromosomes. Because this happens at such an early stage, even before conception, this error is in every cell of his body. It affects everything from what we can see on the sono to his immune system and every system of his body. So, if we did do heart surgery and fix his heart, he would likely die from an infection or would be unable to heal because his cells do not reproduce correctly. Even the placenta has t18 because it forms from those first cells as well, that is why t18 babies are often small and die inutero. The counselor also said that this chromosome division error happens equally with all 23 chromosomes. Trisomy 13, 18, and 21 (down syndrome) are the only trisomies that ever make it to full term. The others end in first trimester miscarriages or often before a woman even knows she is pregnant. This information was very helpful for us in feeling more comfortable with future pregnancies. I should note that there are some trisomies that have genetic links and we are blessed to not have one of those.