Monday, September 23, 2013

Probability of Down Syndrome

    Well, we met with a Genetics Counselor at our new Perinatologist up at the U Hospital.  Dr's have been telling us for a while now that there is a possibility of Jefferson having Down Syndrome.  This heart defect is common with Downs which gives him a 20-50% chance of having it.  Now that doesn't seem like a very high percentage, but there still is that chance.
    I don't think that this percentage will effect us in any way.  My blood test at the beginning of the pregnancy was negative, and he doesn't show any other signs of having Down Syndrome in any ultrasound.  His body's measurements all have been completely normal, and he seems to be measuring over a week to two weeks ahead of schedule.  I really do not think that this will be the case with him.
    I have had 3 relatives, 1 sister and 2 cousins, that have all been told during pregnancy that their child was either tested positive for Downs or has features that are similar to those whom have Downs.  All of which children came out to be perfectly normal.  Maybe a big head, or short little legs, but the kids have all come out completely normal.  This comforts me a little, knowing that family members have had this same problem with uncertainty while pregnant and then having perfect little babies.  I think that's why I am not too worried about baby Jefferson and the probability of him having it.  The tests can be a false positive and the ultrasounds can just be measurements of a typical Tuckett baby (short legs).
    We have been given many options for different tests that we can do to test for this chromosome abnormality.  But come on, what is the purpose of an amniocentesis test when there are so many things that can go wrong with poking a needle into the uterus?  Why do you risk the life of your baby over a little test, when you can find out for sure in a few short months when he is born.  Plus, your asking the person that had to be held down by 3 nurses just to get one shot, to get a big needle stuck into your belly, um no Thank You!  Then there is a very new blood test that can read the babies blood in your blood and see if there is a chromosome abnormality in his blood.  But after a $200+/- bill, and after waiting 2 weeks for the results, you still have that probability of it being a false positive.  Then after waiting those 2 weeks to find out the results, he will be here in 8 short weeks.  And how are you suppose to prepare for that?  You cannot really prepare or plan for a child with a CHD or Downs.  Everything could completely change once he is here, which is making it really hard since I am an avid planner.
    My husband told me, "I want to know so we can plan and prepare for it."  But how does one prepare for a Down Syndrome child?  From my understanding, the chromosome abnormality will not really be a factor when he is a baby.  His development will obviously be slower and he could possibly take longer than most kids, but you cannot really prepare for that.   Heart defects also slow down growth for children any ways, but there is nothing you can do to prepare for that.
    So I don't plan on getting any tests done.  But I do plan on loving this baby to pieces every chance I get.  I cannot wait to finally be able to hold him and look him in the eyes and know that he is mine, forever!  Hopefully I will get the chance after he is born, before he is whisked away for tests and monitoring.  I'm so grateful for modern technology and medicine, but some times you just have to wait it out.  He will be here in 8 more weeks, and then the real fun will begin!
     I love you already Jefferson Daniel!  I cannot wait to meet you!

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