High Risk and Genetics Apt.

Eden saw the high risk (neonatology) clinic and genetics doctor in Iowa City today.  It was pretty uneventful but educational...the genetics appointment anyway!  At the high risk appointment they basically just watch Eden's development.  They tested her ability on different things.  She tracked beautifully for her age.  The nurse acted like the only thing she was concerned about or say Eden was 'behind' on was that she should be starting to catch herself when tipping in a sitting position.  Eden absolutely is not concerned when you tilt her from side to side.  She will get there though.  I am confident!  She is strong and able to sit up with support so she will be doing it on her own in no time!  We went to genetics next.  They measured her all over!  I didn't understand what they were doing it for until I got home and read the print out they gave us that went into detail about Aicardi syndrome.  Some of the characteristics of AS can be (but don't have to be) facial features out of proportion (ie: one eye smaller then the other, ears are out of proportion, pallet is raised, etc.) and the hands can be out of proportion as well so he also measured the palms of her hands and fingers.  He thought she looked normal in all of her measurements!! 
When Eden was in the hospital (during her stay in the NICU) they did a chromosome test (CMA).  This stuff just fascinates me!!  They are able to break down her 26 chromosomes and see if there is anything missing/duplicated/mutated.  They were able to tell us that on chromosome 1 and 3 there was either a duplication or a missing line.  They said that didn't match any other Aicardi girls that have had this test done so they couldn't specifically say that she definitely has AS.  There is no way to test for it. But it did tell us that she doesn't have anything else that could have shown up.  It was all very interesting.  However, I don't know if I would say it was worth the 2.5 hour drive to get there!  We will continue to see high risk but we don't have any apts. set to see genetics again.  We will see high risk November 1st for another evaluation.  I am ok with uneventful...let's keep that up!!