This had to be one of the longest, most stressful months of our lives. On January 2nd, we had a regularly scheduled ultrasound appointment. It seemed as though things were going fine - when the little on felt like cooperating. At the very end, at least when the tech was done, she paused and looked at us so seriously. She said, “I usually don’t say anything and let the doctor come in and talk with you but since I’ve worked with you for so long, I have to tell you, I see some problems.” WHAT?!? Just a month ago things were fine. We asked what the concerns were and she said with the face and the limbs. What did that mean? She said the doc would be right in to go over things with us. When the doc came in, he basically repeated the entire ultrasound, showing us the trouble spots in 3D. He said that there’s a cleft lip (unsure of the palate since he can’t see it) and two clubfeet. He also said that the umbilical cord only has two of the usual three vessels. Any of those taken independently, he said, we no big deal BUT when found together (and he also thought that there was a problem with the hands too) they can be indicative of a fatal chromosomal defect called trisomy 18. With trisomy 18, if the fetus makes it to birth the lifespan is no more than a year.
We were devastated! Well, I guess that’s an understatement. The doc said only an amniocentisis would rule out trisomy 18 definitively so we did it right then and there. Unfortunately, even the preliminary results would take 2-3 days with the final absolutely conclusive results taking 10-14 days. Waiting for the preliminary results was absolutely horrible. We ran through every possibility good and bad. And we waited. Finally, the doc called on Friday morning to tell us that the prelim results were normal - no indication of trisomy 18 but we’d have to wait for the final results to be absolutely sure. So...we waited. The doc called the following Friday with the final results....normal - NO trisomy 18 nor any other chromosomal problems.
WHAT A RELIEF!!! This meant that yes, we will in fact have a child. The little one will need surgery for the lip and probably casts for the legs but both are fixable and well suited to a normal, fully functional life. That left us with a question about the hands. Since there’s no chromosomal problems, one of the other docs (there’s 4 in the group) told us that it would be REALLY rare for there to be any problems with the hands. Chances are, the little one isn’t opening his/her hands during the times we’ve had ultrasounds. Oh yeah, we also had a fetal echocardiogram to check the heart, it’s all good, as is the brain.
Our next steps involve starting to meet with a team that includes a maxillio-facial doc, a pediatric orthopedic surgeon, our ob’s and a social worker. We’ll meet with them for the first time early next week to discuss everything from what we can do now until birth and what will happen after birth. From what we’ve read, most of the fixing will start almost immediately after birth. So, it’ll be bumpy at first but eventually smooth! Keep the good thoughts, prayers, support, and love coming. They say it takes a village and we’ll need all the help we can get.
More updates to follow as we know more!
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