Someone please help me. I dont know what kind of help I even need. Im so scared, and dont know where to turn.
My Newborn son's blood was screened in the hospital 2-weeks ago for any genetic abnormalities, and the test came back reading that he had higher then normal Trypsinogen. This prompted them to conduct further more extensive testing on the sample. While doing so they discovered the presence of the Delta F508 gene Mutation, which signifies the presense of Cystic Fibrosis (as most of you probably already know). Our pediatrician informed us of this posetive reading this morning, and my wife and I have been frantic ever since. (I am not showing it on the outside, in effort to keep her calm. However, she is border line hysterical.)
The Pediatrician told us that the presence of this mutation alone does not automatically mean that our son has CF, but that he is at the very least a "carrier". In turn, it means that one or both of us (My wife and myself) are carriers. He explained that a second test will need to be done, which can confirm CF. This is called a "Sweat test". Using this test they should be able to find out for certain, whether or not he has this awful diesese. I am scared out of my mind right now. The test is not for another week (Sept.7), It is the most painful thing I have ever had to hear, and this waiting period is going to be almost unbearable for us.
Has anyone else ever experienced this? Also, are the chances good that he will NOT be infected? Or are the Dr's giving us a false sense of hope just to keep our spirits up?
I just dont know what to do..I am so confused. From most of what I have read, the Sweat test more often then not (when performed on infants this young) is usually inconclusive (aka Boarderline). This will lead to even more waiting and the agony that comes along with not knowing.
Can someone tell me what the most cmmon symptoms in newborns with CF are? I hear allot about bowl issues... what types of bowl issues? Lack of Bowl movement? Color? Smells?
BTW- My son is 2-weeks old, and has put on 9ounces since birth. He was Born @ 9lbs 1ounce, and is now 9lbs 10ounces. The DeltaF508 Mutation was detected in a newborn screening, and we are waiting to take the Sweat test next week.
Any and ALL advice is appriciated.
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