The bone marrow sample results came back. None of the samples viewed showed evidence of the cells needed to make platelets. While they have sent out the samples for genetic testing, the hematologists have informed us they believe Olivia has an EXTREMELY rare condition called Congenital Amegakaryocytic Thrombocytopenia (http://www.danafarberbostonchildrens.org/Conditions/Blood-Disorders/Congenital_Amegakaryocytic_Thrombocytopenia.aspx). This has NOTHING to do with her prematurity and adds yet another layer of complexity to her situation.
The hematologists are confident they can keep Olivia’s platelets high enough to complete the PDA surgery and move forward. As she is just a baby and does not move around a lot, her risk of bleeding is minimal outside of the medical procedures she endures. She can be managed for now.
We will have the genetic testing results within two to three weeks. The only treatment for Olivia at this time (if she tests positive for the condition) is a bone marrow transplant. The hematologist informed us there may be a few experimental treatments. All of this would take place after Olivia has gotten through this period of prematurity and probably after infancy. We would still have to be careful to make sure she does not sustain injury.
While this news was quite heavy, I laughed as I processed this information (in front of the doctors, no less). What are the odds that our child would be born premature AND with an extremely rare blood condition??? We have this peaceful, happy, nurturing home–the perfect environment for a sweet baby. I can’t help but ponder the story of Job. I wonder exactly why God has decided to test us to this extreme. The beauty in all of this is that I believe we are stronger as a family unit as a result of this experience. I really do hope we get Olivia home so we can enfold her in our love.