Wednesday, September 8, 2010

Kryptonite :)


We got our results back from genetics yesterday. The verdict is Jonathan has the same missing info on Chromosome 21 that I do. This explains a lot about the challenges I faced when I was younger with gross motor,fine motor,speech and learning. I had not made any connection before between what Jonathan was dealing with and what I had to overcome when I was younger.    


We  asked is since Daniel doesn't appear to be having any developmental issues if he could possibly have this too. The Doctor said that if we had not seen any issues with him, that probably he was unlikely to have this problem. This was really good. We asked about if Jonathan needed any further testing my the neurologist and he said no. That was the thing that made me HAPPY. I don't want to make Jonathan do a blood test that is unnecessary and painful and would be hard to do. He is a very sensitive child and it's rather very traumatic to do anything medically invasive. Besides I feel really rotten having to do that to him anyway after everything in his life he's been through.       

















Then the conversation got a little different because  the focus changed t o the unborn baby inside of me. Because I carry the missing info on that gene, there is a 50% chance that she could get this too. It is the same gene that would produce Down's Syndrome (with 3 copies of the gene). I carry a minor deletion on one of the 2 genes..We asked if this was in any way related to the pulmonary and surfactant issues that both of our other children had. The answer from that doctor was that these issues were probably independent of each other and should be treated as such.  Because I knew that this doctor had ties to the work up in prenatal genetics (where my Peri is). I asked him if there were any way of getting the peri the  results from this and help us to get in to see him and make contact. He said he would and we would probably be receiving more care earlier
.So there is our Kryptonite for my OB.. Whether or not he likes it is tough
although we were supremely happy that at least we had an ally in our corner once again

Honestly I do not know what the deal is with blogger today in it's formatting. but Be blessed and know that what ever it is you face with your family, please know that the more pro active you are for them, the better it will be in the outcome.

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