Monday, December 3, 2012

Results day..

This was the Thursday following testing day. Our appointment was at 2:30 pm and that started with the geneticist team. They were very sweet, although I was a bit distracted because I just wanted to see my girl. They gave us some information about SB which we kind of already knew, and told us that a recurrence for future pregnancies would be 3-5%. And that once Peter and I wanted to start trying again they would give me a higher amount of folic acid.

After the genetics team, came Dr. Oppenheimer, she is the head doctor at our local SB clinic. She is a sweet older lady. She told us what can typically be expected out of children with the same lesion level as Emma's. She told us that if Emma's lesion is at her L2 then there wouldn't be much feeling below the hips. That walking is possible with long crutches, and leg braces, however many children with this lesion level chose a wheelchair later in life because it uses less energy and is quicker. If her lesion is at the L4 level then there is a much greater chance that she will walk, with short leg braces and possible crutches. She also told us that even though she does have the Chiari malformation it doesn't impact their cognitive abilities greatly. That most kids tested at just about 10 points less then their siblings on a standard IQ test. Dr. O (we'll call her this for short) told us that generally SB kids are more chatty, because they can't keep up physically  Well coming from our family we already knew this girl was going to be a talker.

Then we headed into the team meeting. A little intimidating if I do say so myself, however we out numbered them which was our goal! HAHAHA!! There were five doctors, one nurse practitioner, and the fella from the geneticist team. We got to see some of the images from our MRI done on Tuesday, and then got into the nitty gritty. We were told that she has a thickening in her Nuchal fold, which could be an indicator for downs, although everything else they look for in Downs isn't apparent on our little girl! THANK GOD!!! They told us that she has a kidney duplication, which shouldn't cause her any problems, one of the doctors shared a personal story about her friend that had a kidney duplication but it wasn't detected until she had to have an unrelated surgery and then it revealed itself. Her miconium (baby poop) isn't as far down into the rectum as typically seen, but again this isn't cause for concern. Her ventricles were measuring at 11.7-11.9 and normal is considered 10. So while they are a little high they aren't out of this world! AGAIN THANK GOD!!!!! It was confirmed that she does have movement in her legs, from the MRI they could tell that she was moving them at her ankle and knee joints. PRAISE GOD!!! We were told that her feet look perfect. PRAISE GOD!!

So while this day came with some tough things that a momma doesn't want to hear we also got good news!!

Thanks for reading this lengthy post but just wanted to let you all know what we know at this point!!


At the end of the day this is what matters...


Here's her PERFECT feet... 




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