Official Diagnosis

Friday, February 25, 2011 10:56 PM, CST

Anastasia’s preliminary diagnosis, Holt-Oram Syndrome (“HOS”), was officially confirmed today.  I never thought I would be thankful for such a diagnosis, but oddly enough I am extremely thankful and relieved.  HOS is not known to carry any other significant issues (other than the ones we already know about with the arms, hands, and heart) so that is why I feel such relief!  HOS is often referred to as the hand and heart syndrome, which given Anastasia’s VSD and radial clubbed hands, is fitting for her. 

I feel like I have been marking time since all of this began during that 23 week ultrasound, not knowing what our precious daughter’s fate could be, but now I feel a sense of peace and hope that we can finally move forward with the knowledge that Anastasia will be okay once she gets through her heart surgery and hand surgeries.  We meet with the Geneticist at the end of March, which will hopefully shed some additional light on this rare syndrome (affects about 1 in 100,000). 

Next up is an appointment with the cardiologist on March 1st, so keep your fingers crossed and say some prayers that she is still doing okay.

Thanks for your continued love and support!  It helps more that you can ever know!!  

Here is a picture of the first time I got to hold my sweet baby girl