Disheartening Day!

Our day started out with mixed emotions. Today was the day that we were to see a perinatologist at UCSD in La Jolla based on a recommendation from our OBGYN. The reason for this visit was based anomalies present in our last ultrasound and our OBGYN wanted a "specialist" to provide a 2nd opinion. 

With all the news and horror stories that are out there of the possible things that can go wrong with babies in utero and pregnancies, we were worried about our situations and didn't know what to expect. My spouse had a "gut" feeling of something very bad while I took the "let's wait and see" attitude to balance our emotions out.

Our appointment was at 1PM but we were told that we needed to proceed and be at UCSD at 12:30 PM to speak with a genetic counselor. 

We arrived as planned at precisely 12:25PM and checked in at the Fetal Care and Genetics facility for our appointment. At about 12:40PM we met with the genetic counselor and the counseling began. Up to this point it felt status quo for us since we have done this before with or previous pregnancy with our Twinkies. 

At exactly 1PM we were led into another room where the ultrasound and testing were to take place. Again the whole process of looking at the baby appeared normal and nothing alarming. However, after the initial session were completed and the radiologist met with the perinatologist to discuss the ultrasound we started to feel something ominous. 

After the radiologist left, she returned back to the testing room after 15 minutes accompanied by two perinatologists. They started to perform more tests but this time with the look of concern on their faces. At that point I started to feel that there maybe something very wrong with our little baby.

After 10 minutes of follow up testing, we were escorted into another room for a wrap-up counseling of the results of the test they performed.

We waited in the room with anticipation on what the issue could be. After about 5 minutes a perinatologist comes in and pulls out a blank piece of paper and starts to draw a diagram for us. She then proceeds to explain on her diagram the location of the heart, stomach, and spine. She then explains that a typical baby would have their heart located slightly to the left side of the body. She also then say that the stomach would be located on the left side as well. 

She then draws another diagram similar to the 1st. This time she explains that our baby's heart is somewhat located in the middle and that the stomach is located on the right side of the body. 

The perinatologist continued by explaining that the heart has 4 chambers and that Aorta is connected to the Left Ventricle. However, our baby may have the Aorta connected to the right ventricle or one of the atriums. 

When we heard this, we knew this wasn't good. We needed to know if this condition had a name. 

We were told that this condition is known as Heterotaxy Syndrome. This as it turns out is a very rare Congenital Heart Defect. So rare that every 1,000,000 babies born, 4 of them will have Heterotaxy syndrome. 

My spouse and I were saddened for our little baby. This baby already has an uphill battle in life and possibly many surgeries to face.

We were told that we need to schedule a fetal echocardiogram with a heart specialist to get a more detailed picture of how the baby's heart is actually functioning and also an MRI for our baby's brain, since the perinatologist did mention she wanted to get a better look at the brain.

This has been a disheartening day for us and all we can think about is to know more and increase our awareness about this syndrome, and we need all the prayers we can get.