Meeting The Geneticist

Here we are 11 days old.  It’s hard to believe my baby is only 11 days old.  It definitely seems like he has been through so much already, and I know he has so much more to go through.  Today we are meeting a Geneticist down in San Antonio, about a 3 hour drive from where we live, so we got up and got the boys ready to leave at 6:00am for a 10:00am appointment – just to be on the safe side.

Meeting the Geneticist it was a like a breathe of fresh air from the doctors we had been dealing with here at home.  Not only is the hospital here at home a teaching hospital, but the doctor’s and nurses just didn’t see babies like Jameson everyday, so they really didn’t know what exactly to do or say.

Our meeting took about 2 hours.  We went in depth about our family history and my pregnancy and he gave Jameson a physical exam where he took measurements of his physical features.  After the exam we talked about the possible conditions that Jameson could have and that he wanted to test for.  He first talked about Apert Syndrome, but with Apert Syndrome he said that the bones in the hands and feet are fused together and Jameson didn’t have that feature.  The other possibility he said was Saethre-Chotzen Syndrome, and then Pfeiffer Syndrome.  My husband and I already believed that Pfeiffer Syndrome is what Jameson has.  Although all three of these syndromes have the same facial features where the coronal sutures are fused, they each have different features with their hands and feet.  With Pfeiffer Syndrome one of the key characteristics are broad thumbs and toes that can deviate in towards the body, which is what Jameson has.

So, he took blood and sent it off to Oklahoma to have the testing done.  It should take about 4-5 weeks to get the results back, and we are crossing our fingers that we do get a conclusive result so Jameson can get the best possible care.

                    

 

 

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