Saturday, March 5, 2011

Omphalocele and Club Foot Diagnosis (13 weeks pregnant)

      A week prior to this ultrasound, we had had an ultrasound at our regular hospital. The next day, my OB told me that there was something wrong with the baby: maybe a shorter limb and something wrong with its intestines. I wasn't sure what to think...I thought, alright, the intestine is no big deal, but I was a little sad about the "shorter limb," I wanted a healthy normal baby. I never had anyone I know with babies with disabilities. It's the kind of thing that I thought it just wouldn't happen to us. Besides, our first baby Soleil was a healthy 13 month old. My OB could not really tell me too much detail because she hand't received a formal report from the radiologist and she wanted me to schedule a higher resolution level II ultrasound at another facility. I didn't cry until she started talking about believing in prayer and etc. Then I had to break the news to close family. It was hard. I think I get more emotional when people get emotional, otherwise, I can hold my emotions pretty good.

     Five days later, we finally get to do the level II ultrasound at Evergreen Hospital in Kirkland. It was a little nervewrecking. The whole appointment day lasted about 4 hours (we had to wait one hour in between). It started with talking to a genetic counselour, who explained to us different chromossomal disorders (trisomies) and said that babies with this problem usually have chromossomal problems as well. Which can include mental retardation and other physical disabilities. On the more extreme side, she also explained about trisomy 18, where the baby doesn't usually make it. She explained to us our options: tests that could be available that day (depending on how far along I was, CVS or amnio), fragil X test (tests for mental retardation) and of course, terminating the pregnancy. I hated hearing this. After we were done talking to her, we had about an hour break until the ultrasound room was available. We (me, hubby and my mother-in-law) had lunch and talked about the different possible outcomes and tried to stay calm.

     Time for the ultrasound!!! As the technician started the ultrasound, we couldn't see much that we were able to identify as a birth defect, except for the foot looking a little inward, but hey, we are not technicians....the tech was really nice and talked about what parts she was seeing and said that it was too early to tell whether it was a boy or a girl. We were a little bummed. With a level II ultrasound, we thought they would be able to tell. But she said that at this stage, the girl/boy parts are pretty much the same size, so it's hard to tell. Whatever, we will wait till the 20-week ultrasound. Ultrasound was done. we had to wait around 20min until the Perinatologist was done with reviewing the results. The peri. came in and did a little more checking and explained to us that the baby has a club foot and an omphalocele. She explained that usually when a baby has a club foot and the omphalocele, the chances of having Down Syndrome was high. Omphalocele is similar to gastroschisis(sp), except that there is a membrane(sac) covering the organs and they pretrude from the umbilical chord. On the omphalocele, she said that it looked like there was part (or all) of the stomach, all of the intestines and maybe more. But she could not check if the liver was out because it's so small [at this point] that she couldn't see it - but we will be able to tell at 16 weeks. She said that if the liver is out, it's a good thing. Usually if it is out, there aren't necessary any chromossal issues involved. The perinatologist offered to do a CVS and we agreed. A CVS is simlar to an amniocentesis, but instead of drawing cells from the amnionic fluid, they draw cells from the placenta. After 16 weeks, an amnio is a better choice, since the two layers are fused (I think it was the uterus and the sac). She also offered to consider the option of termination. She mentioned that a LOT OF COUPLES CHOOSE TO TERMINATE THE PREGNANCY. I'm really starting to hate this...quit offering to murder my child!!! If this birth is not suppose to be, then it will terminate itself. Of course I didn't say anything.

     Two days later we receive part of the results for the CVS. This test checks for trisomies, which means, they check if all the chromosses are in pairs vs 3s. For example, trissomy 21 is when there are 3 chromossomes instead of 2(down syndrome). We were very anxious and praying praying and praying. I was thinking, "God, I can't handle this, I don't want to handle this," I thought, if it is your will, please heal our baby, take this cup from us. But I follow your will, that your will be done, whatever it is. The genetic counselour called me and I told her that before she says anything, me and my husband decided that if there is anything wrong, we do not want to know the sex. So, she told us that the test came out ok, no trisomies for 13, 18, and 21 chromosse pairs. I asked her to tell me whether it is a boy or a girl, but she said that it would be better to wait for the rest of the results, since there could still be something equally devastating. We felt so blessed that the first part of the test came out alright! Thank you Lord!! However, we were still a little tense. It would be another week until the remaining results.

     Less than a week later, I got a call again from the genetic counselour and she said the the rest of the test was also ok. And she told us that we are expecting a boy!!! I was so so happy. She also offered a test called microarray, where they take a look the genes, inside the chromossome. It's an expensive test ($1,500) and she wasn't sure if DSHS would cover. Now I had a whole other issue to decide: if they don't cover, should we do it? We came up with the conclusion that we would not do it because there will always be a more detailed test available It would be like trying to find a needle in a hay stack. But they wanted to know where the problem was. On top of that, Bobby had started a new job, so we wouldn't qualify for DSHS anymore, which means, I prob would have to quit my job before I wanted fwd.....I call DSHS and find out that I'm eligible until the end of the pregnancy, regardless. This was a blessing to hear. I can continue working and have my ultrasounds covered. I will have to be at the hospital quiet a bit. This pregnancy is considered high risk because of the birth defects. Therefore, I will be having an ultrasound every 4 weeks. $$$$ there is no way I could pay out of pocket.
     We thought it would be another few weeks to get the CVS results, but the genetic counselour called me and said they need a blood draw before they start the analysis :( great, now it's tuesday, I work Wed-Fri, so I can't go in till Monday....more waiting

PS - At 4:25 on the ultrasound video until around 4:35, you can see the onphalocele and she measures it, around 2.5cm

No comments:

Post a Comment