Loooong Day of Doctor's Appointments & a New Diagnosis

Our next appointment up in Madison was going to be a marathon day. April 14th, 2009. My husband had to take off of work and he didn't have much vacation, plus, they had been doing staff reductions every few weeks at his work so we weren't keen to take any unnecessary days off, so we asked to fit as many into a day as we could. We were scheduled to meet with a pediatric cardiologist, our perinatologist, the pediatric surgeon, the neonatologist and take a tour of the NICU.

First up was Dr. Weinhaus, the cardiologist. Jonah's heart looked pushed off to the right in the last ultrasound and babies with Duodenal Atresia often have heart problems, so they wanted to get that checked out (turns out that babies with CDH often do too, so it ended up being a good thing we had it done). He confirmed that all four chambers of Jonah's heart looked good but said that the heart was indeed pushed towards the center of his chest. He also saw something that he didn't like the looks of, it looked like something was up in Jonah's chest cavity, but he said he'd let Dr. Davidson, our perinatologist and next stop, look at that.

The perinatoligist looked at Jonah on the 4D ultrasound and now with the new way he was laying she said that she believed he had a Congenital Diaphragmatic Hernia. We asked her whether this was better or worse than a Duodenal Atresia and she said it was more common, but also more serious. She had us go back to talk to the genetics counselor and we cancelled the rest of the appointments for the day since now we couldn't even deliver at Madison, we had to go to Children's Hospital in Milwaukee since they were the only hospital in the area with ECMO, a machine Jonah might need to act as his lungs temporarily in a worst case scenario.

With this new diagnosis I'm ashamed to say I started to shut down. I cried openly in the genetics counselor's office as she told us that this was a condition where a hole in the diaphragm allowed the intestine, stomach, spleen and other organs to move up into the chest cavity, pushing on the lung and not allowing it to develop. She talked compassionately but candidly about the fact that this condition has a 50% mortality rate. Oh my goodness, you're giving my baby 50/50 odds on whether he's going to make it?!? She also told us that if he did make it, he may need a feeding tube or oxygen long term or have asthma or other life-long problems. She also told us that the condition was associated with chromosonal abnormalities. We had talked about this already since the old diagnosis (you know, the one where I was upset that there was a 5% mortality rate?!?) had a high correlation (approx 30%) with Down's syndrome. This condition was more closely correlated with Trisomy 18, there was a smaller chance (I believe 5-10%) but Trisomy 18 is much more serious, it is nearly always a death sentence, especially for boys with less than 10% of all babies making it to their first birthday. There were just so many statistics flying at us the last few weeks and especially today, that my husband and I eventually just told people to stop giving us "one in so many" numbers...every time we heard that, we were the one! We later heard an excellent quote from one of the pulmonary staff, "one in so many doesn't mean anything, if you're the one, its 100% for you, which is all that matters".

At this point, I just wanted as much information as possible. I agreed to do the amniocentesis, which my husband was hoping we would wait on till the next appointment. But I wanted to know if there were any chromosonal abnormalities and the genetics counselor urged us not to wait too long as the results take around 2 weeks to get back. Dr. Davidson fit us in about an hour later, which was very kind of her. The procedure itself didn't hurt much, they did it right in the ultrasound room with an ultrasound tech, two nurses and the doctor. She had me lay down, checked the position of the baby with the ultrasound, marked my stomach, made it sterile and used a needle to extract a sample. I made sure not to look at the needle but my husband said it was very long and very thin and the fluid they extracted sure looked like a lot since they said they only needed a little. I asked what the window was for premature labor (given our great history with small chances) and was told the next three days generally but if I felt anything to let them know. I began to pray in earnest that I could handle whatever we were going to encounter in two months. I didn't really think that Jonah had Trisomy 18 as there are often symptoms they can see on the ultrasound, but I was scared to death of Down's Syndrome and the CDH, plus they couldn't rule out that he had a Duodenal Atresia on top of the CDH and possible chromosonal abnormalities.