So here we go. With all that's going on, I thought it would be easier to keep people updated via a blog instead of random e-mails. We'll see how it goes.
So lets start with a general overview of what's happened so far. (Do I sound like a boring high school history teacher?)
August 18, 2008--Positive pregnancy test. While not planned, I was elated. We have 2 beautiful healthy happy boys who at this time were almost 5 and 3.5 years old. I knew I wanted one more, but we had never sat down and discussed it. And the timing was perfect. The baby would be due in April. An ultrasound on 9-10-08 confirmed the pregnancy.
October 30, 2008--(Nicholas's 5th birthday) Blood work was done this date which included a quad screen. We'd had the test done with the other 2 pregnancies with negative results. I was aware ahead of time the possibility of false positives.
November 4 2008--A telephone call from Dr. Brazus's nurse. The results of the blood work were back and the quad screen indicated an increased risk for Down Syndrome. Because of this, I would have my next ultrasound at St. Vincent Carmel Maternal Fetal Medicine. 1 in 733 babies are born with Downs. I was currently 35 years old and my risk increased to 1 in 300.
November 20, 2008--Appt at Maternal Fetal Medicine. First we met with a genetics counselor who had reviewed our quad screen results. I was absolutely floored when she told us our risks were 1 in 10 for a baby with Downs. She asked lots of questions including what our "intentions" were should we learn that the baby had Downs. The way she worded it, I didn't realize she was asking if we would terminate the pregnancy. Again: floored.
Next came the ultrasound. Oh the joy! It's a girl! I was elated!!! The ultrasound took about 30 minutes and I especially loved seeing the 4D pictures. They didn't do this when I was pregnant with the boys. After the tech completed the ultrasound, she took all the results to the MD who reviewed them and came in to see us. He was looking for "markers" that indicated possible Downs. The heart, kidneys, and neck looked fine. But he did find 2 markers: the three bones in the pinky had not yet calcified and the bowel line was bright. He stated that this probably confirmed the 1 in 10 chance of the baby having Downs.
The MD then discussed the risks of amnio. Because babies with Down's have a 50% chance of heart defects, we thought we should know for certain if the baby had DS so we'd be prepared. I also knew I would not sleep without knowing for certain. We had the amnio done immediately and would get our results in 4 days. The excitement of knowing that the baby was a girl made it MUCH easier for me to get through the weekend. I would never admit it to myself at the time, but looking back on it now, there was definitely a gut feeling that the baby had Down Syndrome.
November 24, 2008--1:40 p.m. Telephone call from Brianne, the genetics counselor. "We got the results of the FISH test (the amnio results). It came back indicating the extra 21st chromosome meaning the baby does have Down Syndrome."
Somehow I managed to get through the telephone call where I declined her offer to come in for immediate counseling. I managed to tell Jason who's only response was, "Really?" and put the boys down for their naps. Then I fell apart.
I managed to get out 3 phone calls, a few e-mails and text messages (impersonal, I know, but the only thing I could do at the time). I didn't take any calls for the rest of the day. I allowed myself 2 days of grief and guilt and all the miserable feeling you have when you find out your perfect baby girl isn't going to be the perfect you have in mind.
After a couple days I could talk about the DS without falling apart. I did some research, but not too much because I wanted to enjoy my pregnancy without scaring myself with all the possible things that can go wrong. I had always been aware of the physical characteristics of people with DS and the learing disabilities they have, but had no idea the large number of medical issues that can come with DS.
December 16 2008--another ultrasound at Maternal Fetal Medicine. This time it's a growth scan because the baby is measuring small. The MD stated that so far the heart looks good, but a future appt with a cardiologist would have to confirm this. He did diagnose the baby with duodenal atresia, a blockage between the stomach and small intestine which causes the baby not to be able to digest things. Because the baby can't ingest amniotic fluid, my level of fluid is high. The duodenal atresia requires surgery after birth and there's no reason to think that the baby wouldn't be totally cured by the surgery. I will also have to deliver at St. Vincent Women's hospital because they have a NICU. And my OBGYN, Dr. Brazus (who I loooooooove) wouldn't be able to deliver the baby.
January 13, 2009--echocardiogram. "no evidence of cardiac structural abnormalities" Don't you just love medical jargon. The heart if fine. Whew. I hate the thought of duodenal atresia and surgery on my infant, but at least it's not a heart defect.
February 16, 2008--ultrasound at maternal fetal medicine. The have 4 MD's, 3 of whom we've now met. One of them will deliver the baby, but no way to know which. I'm still measuring a high amount of fluid, but not so much that the dr is terribly concerned. Baby is about 3 lbs 2 oz and in the 29th percentile. I voiced a concern that with all the preparation for the baby's surgery, I do not feel at all prepared for the actual child birth. I don't even know what door to go in at the Women's hospital. The dr. had a nurse show us where to check in and we got to see the maternity ward. Nice, but no where near the spa atmosphere that we had at Riverview.
We then drove across the street to Peyton Manning Children's Hospital in St. Vincent. Doggone, Peyton wasn't there. We met with Dr. Kokoska, one of the pediatric surgeons, who gave us a rundown of the surgery (too technical for this maternity brain to comprehend) We did learn that the surgery would take place 1-2 days after birth, baby would have a PICC line or central IV (I can't feed or nurse since she can't digest which also means a baby with no diapers to change. Never thought I'd be so disappointed about that one), baby would be in the NICU the whole time (I was hoping she'd be with us up until the surgery) and, the hardest news, was that she'd be in the NICU for 3-4 weeks. That shocked me and it was very hard to hear. Everything we'd read up until this stated 5-10 days recovery time. We learned though that after the recovery from the surgery, the baby would have to be monitored, started on food, monitored for digestion, etc.
So now you are caught up on all the details up to this point. Future posts won't be nearly this long. Tomorrow I will be 32 weeks along and starting weekly OBGYN appts and weekly non-stress tests due to the excess fluid. We are doing well and are so grateful for our supportive family and friends. Our little girl will be a perfect little girl to us. She's already an overachiever--she just had to have that extra chromosome...