Wednesday, June 8, 2011

Today's meeting with the Genetic Counselor 6/8/2011

   Yesteray Cathy got a call from Dr. BK...  The 2nd round of amnio results came back abnormal.  I can't tell you how this completely took the wind out of our sails.  We were delighted about the preliminary amnio results (normal - see previous post), but that feeling was short lived.  They indeed found a chromosmal disorder (Chromosomal Translocation), but more testing will be required to determine exactly what is going on.  They "suspect" Grant may have DiGeorge's syndrom for 2 reasons (1) Truncus & related heart defects are common in DiGeorge's (2) The abnormal amnio indicated a problem on chromosome 22 (which is where DiGeorge's has missing genetic material). 
   What now?...  They will do additional genetic testing over the next few weeks to determine if Grant has any missing or extra genteic material (unbalanced translocation).  We are hoping that Grant has a Balanced Translocation (nothing missing and nothing extra, just not arranged correctly).  Some people have a balanaced translocation and never know it (no symptoms). Cathy and I gave blood today to be tested as well.  Either of us could have the same condition, we could be a carrier, or we could both be clear.  If either of us have the same translocation (and not know it), it could be good news for Grant that he could also not show any symptoms or signs (wishful thinking I guess)
   For now, we wait to hear the final results from the Amnio testing (2-3 weeks...)  Within 3 weeks we will know everything we can know during pregnancy (genetically speaking).  We have our first meeting with the Cardiologist on 6/17.  I am very curious to see what he says about Grant's heart defects.
   Thanks to everyone for the love and support.  We are very fortunate to have such wornderful friends and family to lean on.

1 comment:

  1. He is beautiful. Continued prayers. Keep us posted.

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