The Decker Family

As many know by now, but as of yet we have failed to blog, Tim and I are pregnant with our second baby. We have known for quite some time now, but have only gradually been making announcements. The sad news is that I went in for an OB check at 11 weeks last week and the midwife found an abnormality on the ultrasound. The baby is still alive and has a strong heartbeat, but there is definitely a problem.

After the initial ultrasound, we went to radiology and had a level II ultrasound with better resolution. We knew instantly that there was a real problem when the tech sent for a doctor to explain the findings. We were given some preliminary thoughts form the radiologist and booked immediately for the next morning to see a maternal-fetal specialist.

On Friday, we travelled to Topeka for a series of appointments that lasted over two and a half hours. I received another ultrasound and we spoke with the genetic counselor and the the doctor. The genetic counselor explained that the baby has a cystic hygroma. This is caused by a blockage of the lymphatic system that results in a collection of lymphatic fluid in the soft tissue behind the neck and base of the head. This is the cystic hygroma that was seen on the ultrasound. According to the genetic counselor, this marker carries with it a 30-50% chance that the baby will have a major genetic problem. The top three possibilities are Turner's Syndrome, Down's Syndrome and Trisomy 18. All of these conditions are seriously problematic for various reasons and have different prognoses. We have several options for getting a definitive diagnosis, but those testing options are several weeks away. The genetic counselor said that the most likely cause for a cystic hygroma is Turner' Syndrome, but there was another soft marker (lack of formation of nasal structures) that would also be a soft marker for Down's Syndrome.

We spoke with the genetic counselor for quite a while and then met with the doctor. The doctor painted a much different picture. He felt very certain that the condition was Turner's Syndrome because of the size of the cystic hygroma. Turner's Syndrome is a genetic condition that only affects females and can carry with it a number of health problems. From what we have read, girls with Turner's Syndrome generally lead happy, healthy lives without the cognitive disability that is seen in Down's Syndrome. However, there are very few women/ girls with this condition because it generally carries a 98-99% miscarriage rate. The doctor was confident that the condition was Turner's and very confident that the pregnancy would end in miscarriage. He was very compassionate but also very blunt, straightforward and confident in his assessment that we should prepare mentally and emotionally for the end of the pregnancy. Usually miscarriage happens with this condition prior to 12 weeks, but he did warn that it could take 20 weeks or even more before the miscarrriage happens. The timing depends on how quickly the cystic hygroma progresses and the effect that it has on the heart. As of 11 weeks, the baby's heart was doing fine.

From an emotional standpoint, Tim and I are deeply saddened, overwhelmed and a little scared for our uncertain future. We do not have many options at this point other than to wait it out. We plan on receiving weekly or bi-weekly ultrasounds to check on the baby from this point on. Other than that, we will probably be doing a lot of waiting, worrying and talking about the future. Should we end up having a special needs child, that will obviously change a lot about our future and the vision that we had for our lives. At this point, we just don't have enough information to really make any plans, so we wait.....