so much, so much.

So...Annie had a followup appointment with her plastic surgeon, Dr. Goldstein on Friday. The appointment was originally scheduled for August 15 but my "mommy radar" was on high alert when Annie became more upset (crying more) when we would cradle and/or I would try feeding her. Also, I thought that her head was starting to get harder in places that were always quite soft.
Annie's appointment was at Children's Mercy Downtown and started promptly at 8am...early morning for us all! The purpose of the followup appointment was for Dr. Goldstein to feel/push on Annie's head to make sure her brain was not under any pressure AND that it had plenty of room to grow. Dr. Goldstein did his 'thang' and believed that Annie's head was just as soft as it was when he first saw her in June but wanted her to get a new CT scan to make sure she didn't have any pressure anywhere else. Lucky for us Annie had fallen asleep just in time for the CT scan but woke up right as I put her on the bed to begin. Don't worry, Children's has thought of everything...the tech called in Barbie (yes, that was her real name) to keep Annie still during the scan with light-up toys, a colorful projection screen and her Disney Princess voice. Seriously though, I don't know if we could have captivated Annie's attention like Barbie did. Kudos. After the scan we returned to Dr. Goldstein's office to get the results--he was happy to report that the top of Annie's head was indeed still wide open allowing her brain plenty of room to grow. Although the top of Annie's head was in good shape, Dr. Goldstein was concerned about the thinning of her forehead bones and had requested a neurosurgeon to come over and evaluate Annie and her CT. Dr. Goldstein informed us that although there was a neurosurgeon in the hospital, he wouldn't be available until noon (at this time it was 11:30) and asked if we would stick around...of course we said yes! We almost couldn't believe we were getting to meet the neurosurgeon the same day we had a CT scan and saw Dr. Goldstein--usually these are three separate appointments. At noon, Annie saw neurosurgeon, Dr. Hornig, and he did his own evaluation of Annie's head. He was please with her mid-face and even mentioned her "great looking cheeks!" I immediately liked him! :) After a few minutes with the whole team, Dr. Goldstein informed us that he would be going over Annie's scan again and call us early this week to let us know when surgery is to be scheduled--He believes surgery would need to happen in the next 4-6 weeks. YIKES! Chris and I are ready to get the process started but anxious about it at the same time. We know and understand that the surgery HAS TO happen but it's still crazy to think that in a few short weeks my baby will be having major reconstructive surgery. 


Fast forward a few days...Monday came and went with no call from Dr. Goldstein's office. Tuesday, however, was Children's Mercy phone call overload day. First, I received a call from Laura, our Genetics Counselor from Children's Mercy informing me that the DNA testing was back and that Annie does have Saethre-Chotzon Syndrome. I have very mixed emotions about this diagnosis. Although it's nice to have a name/diagnosis for what's going on, there are still a lot of unknowns. According to the test results Annie has a "full gene deletion involving the TWIST gene", which in layman's terms means that she did not get part of the TWIST gene from either me or Chris. Laura informed me that Dr. Ardinger (Annie's Geneticist) has requested additional testing to evaluate the gene before and after the TWIST gene to see if there were any other deletions. After this testing is completed, Chris and I will have our DNA tested to see if 1) this was passed on to Annie from one of us, or 2) it was a "random" mutation. I then got a call from Jamie, from Dr. Goldstein's office informing me that Dr. Goldstein had put in an order for Annie to see an ophthalmologist and that she had an appointment next Monday at 10:30 with Dr. Waters. The appointment with Dr. Waters will determine if Annie has any pressure behind her eyes. Jamie said that if the appointment indicates any pressure, Dr. Goldstein will most likely move up the surgery date. And to add to the above information, I got a call from Kim, Dr. Goldstein's surgery coordinator informing me that Annie's surgery is scheduled for September 24. Kim then went on to tell me that on September 4 Annie has appointments to meet with the preadmissions department, see Dr. Goldstein for 10-15 minutes and get lab work done. On September 23, Annie will have to have more lab work done and go to her pre-op appointment...it's definitely getting real! To be honest, I'm surprised that I remembered that much--Kim is going to be sending a letter with all the information/appointments and times. 

So, if the last few months haven't been appointment, information and unknown territory overload enough the next month is going be crazy! I must say, we have a great support system--family and friends have been amazing and I don't know what we would do if they weren't around. 

Ok...enough about medical stuff. Annie is starting to roll from side-to-side--she's had a few rollover moments but nothing intentional, yet. She is very observant and loves watching people talk. She especially loves watching and listening to Daddy sing silly songs! She loves baths...so much so that she'll scream when we take her out. She LOVES being held facing out to see the world. She reaches for, grabs and eats all toys. She sleeps anywhere from 4-6 hour stretches. We've even had a couple of all nighters.  She fake coughs AND is starting to fake sleep. She gives kisses and is a total thumb sucker! She is standing up on our legs. She LOVES ceiling fans--moving or not. She grunts when she wants something or we're doing something she doesn't like. I love my girl--she has such personality!