DiGeorge Syndrome

I don't know why I haven't mentioned this but my Tuna may have DiGeorge syndrome. I took him to the geneticist because my bio father (estranged but thats a post for another day) found out he has a rare blood disorder called alpha1antitrypsin deficiency. Our pediatrician was not sure exactly how to test for it so she sent us to the geneticist. Well turns out he is not so concerned about the blood disorder but he has some features that make him suspicious of DiGeorge Syndrome. He has a bifid uvula (the hangy thing in the back of the throat is double/split) and a tiny VSD (hole in his heart) he also has hydronephrosis. From what I understand, and I am not going to google for a better explanation because I am trying not to obsess, but it is a deletion on the long arm of the 22 chromosome. It can cause mild mental retardation, physical delays, feeding issues, and heart issues.

It can range in severity but if he does have it the geneticist is thinking it is mild. He is meeting all of his milestones on time, he is strong, and huge at 17lbs, he is 5 months. That is good news but hubby and I would need to be tested if he is positive. Any future children could have it more severe and that is something we will need to take into consideration. Even before this info I didn't know if I could go through pregnancy again. Besides the whole fertility issues I was scared out of my mind. Literally. I just don't know if I can do it and worry the whole time. I know that I should not even worry about it now but worrying is what I do best!

So we wait. We wait for the results. The call. It could change everything. But I don't wanna think about it. What does it matter anyway? Will I love him any less? No. Hell no! Is knowing, having a label gonna change the fact that he is rolling over, laughing, jumping, playing, filling our hearts with love? NO, NO, NO! He is my baby, my perfect, beautiful, amazing baby and nothing will change that. So we wait. It has been 1 week it could take several. I don't wanna think about it anymore. I can't think about it anymore.