Terry Ann is Born Abel!

After several miscarriages and a high-risk first pregnancy, I was elated when I found out that I was pregnant with my second child.  At my 20 week appointment, my baby was not as big as she should be. Either I wasn’t as far along as I thought or she was “failure to thrive.”  At my next ultrasound, it took at least 5 different doctors almost 6 hours to try to determine what was going on.  I was told that they believed that she had skeletal dysplasia and that her lungs may not grow to support her lungs and she would ultimately suffocate.  I was devastated at the news.  After shutting down for days at the thought of losing my precious baby, I decided that nothing was certain and she deserved me to be all in.  At this point, I was only seeing high-risk doctors and continued to get scans for several weeks.  Over those several weeks, the scans led to even more questions as more “red flags” or  indicators kept appearing.  The doctors kept telling us that there were several anomalies, but had no clue how they were connected, and that there was still a possibility that she could be born completely healthy.  They were almost certainly able to confirm the presence of Craniosynostosis, but we would have to wait until birth to actually diagnose.  They also spotted white spots on her heart, a disconnected top vertebrae, and of course the short limbs which led us to this place to begin with.  I agreed to have an amniocentesis performed where they did a skeletal dysplasia test and a full chromosome microarray panel so they might be able to find what was going on.  The results of the microarray panel came back negative, which led the doctors to believe it was most likely skeletal dysplasia.  I received the results of that test on a Friday night and was told the test was negative.  My hopes were that she may possibly be a completely healthy little girl.  Fast forward to Monday (3 days later) and I went to have my second non-stress test done.  Her heart rate was all over the place so they set me to the hospital to be monitored for a longer period of time.  To my complete and utter surprise, I delivered her just 2 short hours later at 33 weeks, 3 days.  She was rushed off to the children’s hospital since they still were unsure of what exactly was going on.  That night, there was a revolving door around her bedside with all the specialists gathering any information they needed to determine or rule out any possibilities.  My husband and I were also asked to get another genetics test done but would not know the results of that for a while.  We were feeling good about how things were going, especially since she did not have to be intubated at birth and was maintaining her sats as well.  The doctor even told me that he thought at most she would be in the NICU for about a month or so.  During that time, the doctors confirmed that she did in fact have Bilateral Craniosynostosis and was also diagnosed with an ASD, VSD, and a bicuspid aortic valve.  Even with those issues, she was still considered the “healthy baby” in the NICU.  At about 2 months old, the genetic testing came back and confirmed a diagnosis of Trisomy 9 Mosaicism, which is why nothing showed up on the microarray panel.  I again was devastated.  There was very little information about Trisomy 9 and it appeared that what information there was, may  not tell us much about her.  As we progressed on with our sights on home, we were immediately shut down as she struggled a great deal with feeding.  After weeks of many attempts, we made the daunting decision to proceed with a g-tube.  After all, we wanted to go home and it could always be removed.  Still with our sights on home, we were beginning to see concerns with her need for oxygen, not so much the actual oxygen, but the flow.  Again, we began the rounds of doctors and trying to determine what was going on.  ENT officially diagnosed her with severe laryngomalacia.  She had several procedures to try and correct the issue, but all were unsuccessful as she was still so tiny.  As the issues continued to persist, we knew we needed to make another difficult decision and get a trach because we knew it was best and that too could be removed.  After 164 days in the NICU, she was transferred to another unit where we would learn how to care for her at home.  About a month into her stay in the new unit it was determined that she was exhibiting signs of central and apoxia apnea.  She was then put on a ventilator.  It took several weeks trying to adjust the settings for her tiny body.  After 90 days in the transitional care unit (with a total of 254 days in the hospital), my “healthy” baby was abl