This blog is a chronology of our story and should not be used as the basis for medical treatment or diagnosis. From time to time, you will find links to other websites that we have found helpful, however we offer no guarantees as to the accuracy of these websites. At all times, please use your own good judgment and the advice of qualified medical physicians and specialists.

Before Our Story Begins ... Being Pregnant

Monday, April 5, 2010

Our original Carepages blog picked up when our son, let's call him Michael, was a little over three weeks old and had already been through two surgeries. So, before jumping right in to the original posts, I figured a little bit of background was necessary.

My pregnancy with Michael was more eventful than anyone would have liked. We started out with a bad nuchal translucency test result at about 11 or 12 weeks, which immediately put us in fear of our baby being born with Down's or a severe heart defect. We (Michael and I) undertook test after test to see if they could find out what was causing the high nuchal measurement, including a chorionic villus sampling test (which is what they do instead of amniocentisis when the pregnancy is too early along) and a fetal echo cardiogram. To this day, I think Michael and I had more sonograms than most people have for all of their children. Every subsequent test came back normal, but despite these subsequent "normal" results, from that moment on, we were treated as "high risk," and I never quite got over the nagging fear.

Here are two pictures from the original sonogram, showing the significant gap at the back of Michael's neck which so concerned the doctors:

nuchal #2 watermarkednuchal #1 Talking is Golden watermarked

Little did we know, at the time, the real cause of all our future problems was staring us in the face in the sonogram that was done at 11 weeks. My son had a frighteningly small lower jaw, a condition known as micrognathia. We all saw the small jaw on the pictures, at 11 weeks and later, at 20 weeks. The doctors even discussed it with me at one point, but "small chins" have been in my family for years. When the doctors heard about our family, they dismissed any real concern over the condition. Micrognathia can be a hallmark for several genetic syndromes, and it could be an indicator of a lot of potential problems, but if the condition ran in my family and we didn't have any genetic issues, no one saw any reason to pursue the matter.

Here is one of the pictures from the 20 week sonogram that shows how small Michael's chin is:

20 wk weak chin watermarked

We all missed another clue, though. We missed that not only did our little guy have micrognathia, but I also had polyhydramnios, meaning I had too much amniotic fluid. Months would pass before we would make the connection between the two conditions, but they were related. Michael's micrognathia was causing my polyhydramnios. To be more specific:

Michael's micrognathia was crowding out his tongue and causing some birth defects that no one could see on the sonogram. Because Michael's tongue didn't have enough room, it got pushed up into the roof of his mouth, so his roof never closed and he was born with a cleft of his soft palate. (This is not a cleft of the hard palate or the lip, but just of the soft palate, basically, the roof of his mouth had a big hole in it.) Because of the position of Michael's tongue (being pushed up and back), and because of the cleft palate, Michael wasn't swallowing the typical amount of amniotic fluid and it was building up. In hindsight, we had a big sign of what was coming, but we weren't looking in the right place. The large nuchal translucency was a red herring. Insofar as anyone knows to this day, it was simply a false positive -- a fluke -- and of no bearing whatsoever on Michael's chin or the problems that was causing. We had been looking for any number of defects, except the one that blindsided us when Michael was born.

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