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... 




Testing day

Tuesday started early, I had to be at Children's Hospital at 6:30 am. Myself, my wonderful husband, and sweet momma got there and got me all signed in. I didn't have to wait to long until they called me back, however I was hungry and that is never a nice thing to do to a pregnant woman. Anywho, we got back to the little prep room and I signed my name for what seemed like a few hundred more times and they took me back to the MRI room. I did get to watch a movie which I appreciated because man was that machine LOUD!! I was in there for total of an hour, which all things considered isn't so bad.I don't think Emma liked it so much though because at certain points I could feel her squirming around.

After the MRI, we went to the hospital where we will be delivering at for an ultrasound. We were all pretty excited at the opportunity to see our little girl again. She was stubborn though and wasn't in the best position for the ultrasound tech to see her lesion so she could get some measurements of it. So I stood up, walked around, drank some water, did some stretching, and a lot of finger crossing that Emma would co-operate. The tech came back in to check and see if she moved, and of course (just like her daddy) she didn't budge. I think we have a strong willed little girl on our hands... UH OH... But the tech got what she could and then we waited for the doctor. He finally got there (he's a busy man) and took his own look at sweet Emma. So we got to see her again (which of course we didn't complain).

Once we were done with the ultrasound we were off back to Children's. We went to the Fetal Care Center and met with the social worker Erin, and the nurse practitioner Avery. Both gals were sweet and compassionate, they gave us as much information as they could, and then sent us on our way. We went to the fetal echo and the cardiologist came back and said our sweet girls heart looked great! AMEN.

Overall this was a good day, it was a long day for sure but a good one!!

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