We had a rough weekend. Friday we went to the perinatal clinic for our routine 20 week ultrasound where they do an anatomy scan of the baby. All was going well, the baby was cooperating, moving around a lot, they looked at her genitals and she was indeed a girl, and she grew a ton. Then the ultrasound technician went to get the Doctor and he came in and started focusing on her heart and brain and didn't say much to us. We started to get a little worried but then he said he sometimes gets in his zone and forgets to talk to his patients and it gets them worried. He asked me who my OB was and what I did, made chit chat with us. Then he dropped the bomb that no new parent, or any parent ever wants to hear...."Your baby has some birth defects that have me concerned." We were in shock, 7 weeks ago they told us we had a perfectly normal, healthy baby and Friday our baby girl had birth defects. He then showed us what he was seeing. Our daughter has 2 clubfeet and another condition called clinodactyl, which basically means her pinkies curve in instead of being straight. The fingers aren't considered a birth defect but since she has curved fingers and club feet he was concerned. If he had seen one but not the other he wouldn't have been worried but since he saw both conditions he wanted to do an amniocentisis to test for Down's Syndrome. Marc and I were in a state of shock, two weeks ago I was my OBs star patient and now we were talking birth defects.
So we did the amnio, I hide in Marc's arm and cried the whole time, mostly because it hurt. The Doctor said he's done 4,000-6,000 and this one was text book and she didn't even know he was there. Marc later said he watched it on the screen and he went in between her legs and took the fluid while he legs were wiggling around it. They showed us the fluid, which looks a lot like pee, and they told us it was clear which is what they like to see. Then we met with the Genetic Counselor who was super nice and explained everything they were looking for, the office there is so compasionate and the Doctor came in several times to see how we were doing. I kept asking how this could be happening to us since I was only 29 and our first trimester screening gave us a 0.1% chance of having a baby with Down Syndrome. So we went over what they saw on the ultrasound and basically the only thing that worried them were her feet and her pinkies, everything else was normal, her brain, her heart, and her limbs (which usually show signs of Down Syndrome). At 5:30 we finally left the clinic, my appointment was at 2:45 and I was sent home on basically bed rest for the weekend to reduce the risk of miscarriage that amnio's can cause. We went home in a state of shock. The weekend was absolutely draining for us as we tried to wrestle with the fact that we could possibly be the 1 baby in 900 (the odds they gave us in our first trimester screening). I hardly slept, Marc was a wreck, Homer was a sweet boy, I think he sensed our moods. We told our neighbors who were so supportive and both brought me a bouquet of flowers.
Then it was Monday and it was the waiting game. At 10:30 I got off of a conference call and walked Homer because I was going crazy sitting around waiting, I worked at home since I didn't want to get the news in the office. Marc had confiscated my cell phone because I was too afraid to hear the news myself. While I was walking Homer the call came, and the news was what we had hoped for. Based on the amnio she has a 99.96% chance of not having Down Syndrome, Trisomy 13 or Trisomy 18. And she's definitely a girl. We're still waiting to hear about Spina Bifida but they were less concerned about that because we have seen her move her legs in the ultrasounds and her spine looks fine in the ultrasounds. So next week we get the full results but they are confident that we have a healthy baby with club feet.
So what does that mean? Treatment on clubfeet is very successful. Before she's born we will meet with a pediatric orthopedic surgeon and talk to him about the ultrasound and talk about a treatment plan. She will most likely be in casts her first 6 weeks of life as they gradually work her feet back into position (fortunately clubfeet is caused by tight ligaments and tendons and not deformed bones), they will have to change her casts every week in the first 6 weeks. After that she will have her casts changed every 2 weeks until they are in the proper position. Then she will have to wear braces at night. When she starts standing and walking she won't have to wear the braces as much because her ligaments will be strong enough to stay in place. Within a few years no one will know she was born with clubfeet. Kristie Yamaguchi had club feet and several NFL players were born with it as well so her treatment looks good, especially since we hope to start it shortly after birth. My mom is happy because that means lots of dresses (which I normally wouldn't put her in) because of the casts. There is no treatment for the fingers, but it won't affect her motor skills. We also have an appointment on Friday at a pediatric cardiologist for a fetal echocardiogram since Marc had a heart murmur. They are just sending us as a precautionary measure since Marc was born with a heart murmur even though they didn't see anything wrong with her heart.
One thing Marc and both learned out of this whole ordeal is how incredibly much we love this little person! We also learned what a wonderful support system we have, we have the most supportive family and friends and we and our baby girl are so lucky.
So all iss well that ends well and our little girl is going to be just fine!
Here are Marc and Homer taking a nap, I saw them when I was coming downstairs from my nap and I couldn't resist, they looked so cute together.
Here are the two pictures they gave us of her, the top is her profile and the bottom is confirmation that she's a girl...it looks like a real tooshy now!
And at long last and after many requests, a picture of my baby bump at 21 1/2 weeks!











