Tuesday, August 29, 2006

Level II Ultrasound with Dr. Read

We just came out of our Dr.'s appointment with Dr. Read, who's a maternal/fetal specialist, with a focus on genetics. It was overall a really positive appointment. Emotionally exhausting, but postive. He spent about 2 hours with us, going over our quad screen (the blood test I took a week and a half ago) and he spent about 45 minutes on the ultrasound. We knew the screening for down syndrome/spina bifada was negative, but our results were even better than we thought. They basically tell you your risk factor for having a baby with those chromosomal issues. Our risk for down syndrome was 1:38,000 and for a problem with trisomy 18 (or chromosome 18) was 1:10,500. So that was excellent news. He also found not one other physical marker on the ultrasound that would lead him to believe something was wrong besides the heart defect. And they look at everything! He measured femurs, ulnas, the radius of the skull, he looks at the brain, kidneys, stomach, toes, fingers, etc. And everything was perfect. (I'm sure rog would want me to include that his boy parts looked good too =)

So that was great news. Because of the heart defect, they still put us in a category of about 10-15% risk of some kind of chromosome anomoly. The average person w/o the heart defect would be at about a 3-5% risk. He thought we should do the amnio for a couple reasons. 1. It's always good to know what you're dealing with and 2. If there was something seriously wrong with the baby's chromosomes, it would help them decide whether to intervene if I had pregnancy complications. For instance, if I went into pre-term labor, but they knew the baby wouldn't survive anyway, they would not do a c-section and risk my future fertility. So for those reasons, he recommends we know. Rog and I weren't ready to make that decision today, so we asked what our options are. We set up an appointment with him for four weeks and at that point, he'll do another ultrasound to check the baby's growth. If the baby is not growing well, that could be a marker something's wrong, and we would then do the amnio. But if everything's a-ok in 4 weeks, I don't think rog and I will have the amnio done. It's about a 1in 200 risk of miscarriage with an amnio, and I don't feel right about putting my baby at risk when there's no other markers.

Chromosome anomolies can be as small as a learning disability, we found, or an anomoly on a small chromosome like 22 may never even show itself to be a problem. It's very interesting. He was throwing around words like meiosis ... took me back to Biology 101!

So we are celebrating today that our baby looked great and was right on for size (a little smaller than 50%, but look at Rog and me =) and we'll take the next step when we get to it.

I thank you all so much for your prayers and support. We feel so blessed to have such amazing friends and family around us. And we are still praying for God to heal this boy's heart! We know He can do it!

Last but definitely not least, we are thinking baby is going to be Luke!
(Lucas Scott would be his full name ... Scott after Rog's brother). Little

Monday, August 21, 2006

Ultrasound news

We had our ultrasound on Friday morning, August 18th and found out we're having a baby boy! We're thinking Lucas Scott for his name, but we'd call him Luke.

In addition to finding out the sex, we also found out that something didn't look quite right with baby's heart. The ultrasound technician couldn't expound on her findings, but felt like we needed to see a specialist to follow-up. Thankfully, a pediatric cardiologist at Northwest Children's Heart Center had an afternoon cancellation, so we were able to get an appointment with him that same day. Numb, Roger and I sat in our car, trying to figure out what just happened. We knew we had to make phone calls, since our family was anxious to hear about our appointment, but how do you break this news when we ourselves didn't even know what to think or feel. We called my mom first, but all I got out was that it was a boy and then I broke. Rog took over the phone call and let her know that they were sending us to a heart specialist to look at baby's heart. Over the next two hours while we waited for our appointment time, we grasped onto the hope that it was the baby's activity and position that caused the tech to have concerns.

We prayed together as the time crept along. What were we looking at? Since the technician could tell us so little, we didn't know if a heart concern meant nothing or if it meant the baby wouldn't survive. We prayed some more. Finally, we checked into NWCHC, met my mom there, and were ushered back to the fetal echo room. I cried and cried, scared of this whole unknown process, wanting to be at lunch with my husband, then on my way back to work to share the good news of our baby's health.

Our technician, Mickey, spent about an hour doing the fetal echo, and was as calming of presence as you could hope for. She finished up and then Dr. Stefanelli came in to take a few more pictures. We were sent to an exam room to wait for the diagnosis. We still clung to the hope that everything was okay, that the baby's heart was perfect.

Dr. Stefanelli came into the room and quickly shared with us that our baby has a heart defect called atrioventricular septal defect. Basically, a hole in both the atrium and ventricle, so blood and oxygen don't flow in the correct way. He painted a very optimistic picture of this defect and the fix. It would require an open-heart surgery when baby is 4-6 months, but only one, not a series. The surgery will patch the holes and our cardiologist was encouraging that most children after this type of surgery are able to compete in sports and live active lives. There are also other complications that go along with AVSD, but our baby's heart didn't appear to have those. There is a high success rate with this surgery, so we have took comfort in that. We thought to ourselves, "OK, we can do this. We're going to be fine."

The second piece of news was much harder to swallow. We were told about 40-50% of these defects are also seen in Down Syndrome babies.

I had declined the 16-week blood screen, so we headed back to our doctor's office to get my blood drawn. This was all happening on a Friday and thus had to endure the weekend until we received the results. The wait was agony. I just kept telling myself "you have to eat, you have to nourish your baby." But I felt sick and scared and wanted this not to be happening. Our family surrounded us and we somehow made it to Monday, when we received the great news that our screen was negative for down syndrome, spina bifada, and trisomy 18. Even so shortly after such a horrific weekend, I see how God is using those two days to strengthen our marriage and family.

The plan is to meet with a maternal/fetal specialist, to have a level II ultrasound performed, and to follow-up with another echocardiogram in one month with Dr. Stefanelli.