The Specialist

Actual Date: November 18, 2010: So after what seemed like forever, a day & a half passed, and our appointment with the perinatal specialist was here. We were both excited and apprehensive about what she would find. We met with the ultrasound tech first who scanned my belly and took measurements along the way. This was more exciting for me because there was a monitor on the wall that both Jason & I could watch. Our little girl was putting on a show - rolling, stretching, and moving all around. As the u/s progressed, the tech began to give us some news. Our baby was definitely smaller and showing signs of dwarfism. Her "long bones" were measuring shorter and her torso seemed to be a normal length (signs of achondroplasia). She also confirmed for us that we really are having a GIRL! She stepped out to let the Doctor know she was ready and to go over the pictures she took. Jason & I sat in silence for a minute then almost simultaneously said, "so she's just going to be little," and kind of laughed to break the silence.

When the Doctor came in, she had the tech scan my belly again so she could see things in "real time." We got to see on the monitor again and I overheard the Doctor & the tech whispering, "bossing, club foot, and heart." I got tears in my eyes just listening as I wasn't sure what all of this meant. When they were done, she explained: Our baby definitely had a form of dwarfism, probably achondroplasia - the most common form. She has frontal bossing of her head (which means that her forehead is a little bigger), she has one clubbed foot, possibly both, and her chest cavity was smaller. She asked us if we had any questions. Umm.. yeah... at least a million, but as thoughts are racing through your head and trying to take in this information... it's hard to put a sentence together. We wanted to know more about the club feet and her small chest and what this would mean for her. She explained the the club feet could be corrected soon after birth with bracing & casting and that she "was concerned with her small chest too." She said that it could mean a different form of dwarfism that was "lethal" meaning she would die soon after birth. Her chest would be too small for her lungs & possibly her heart to develop properly. She said she was almost convinced that it was NOT this form of dwarfism. She also mentioned that since I was at 19 weeks, I had to decide soon if I wanted to terminate the pregnancy (24 weeks is the "cutoff" in Florida) and offered to do an amniocentesis to find out for sure which form of dwarfism the baby had (there are around 200 different kinds). We asked for a few minutes of privacy to discuss what we had just been told. I told Jason immediately, that there was NO WAY that I was aborting this child! I would consider the amniocentesis though if it would confirm her diagnosis so that we could prepare & be able make informed decisions about her care once she arrived. Jason agreed and said "why would we terminate the pregnancy just because she's going to be small?" (I'm sure the Doctor was just doing her job, but this just seemed like the most ridiculous suggestion to us.) When the Doctor came back in, we told her that we would not even consider terminating the pregnancy, but still wanted the amnio (as long as the risks were low) to determine what kind of care our baby girl would need. She assured us that the rate of miscarriage was much lower at their practice because they insisted on bed rest and taking it easy (no lifting, etc.) for a week. The nurse saw the question in my eyes ("How am I going to take care of my baby at home?") and reassured me that as long as I didn't pick him up from the floor - but have him get up on a chair or the couch - it'd be okay. We gave her the go ahead to do the procedure.

I think even though this was probably, one of the scariest & most nerve wracking moments I've experienced as a mother so far, it was also amazing. They prepped my belly and explained to us everything that was going to happen and continued to do so as it happened. The size of the syringe and the needle were very intimidating and I tied not to look. As Jason held my hand, they started the u/s to guide the needle to ensure not to go anywhere near the baby. As the needle entered, our baby was amazingly calm and being such a good girl! She must have gotten curious because she reached her hand slowly up toward the needle (she didn't touch it) and slowly pulled her hand away. This was the amazing moment in a time of such uncertainty for Jason & I, that she was having such a normal reaction to something invading her space. This made me smile and again know that everything was going to be alright. When they were done, the nurse showed us the fluid (it kind of looked like pee, lol). The took some blood work to accompany the amnio to the lab and told us that we'd have the results in approximately 3-4 weeks because of the Thanksgiving holiday the following week. They scheduled a follow-up appointment for 3 weeks.

After we left the office, I was supposed to go back to work, but called and told my substitute to stay for the rest of the day. We sat in a cafe in the medical building and had random discussion about everything that just happened. First, our baby might have just been small, then she just had dwarfism, and now she might die? Did someone really just suggest aborting our baby? We also decided that we had to give our baby a name soon. (We never told anyone Bryce's name until he arrived... there had to be some suprise element!) We wanted more of a connection with her. So the name search would begin! Then we began to look at the positive... we live in a city where there's an amazing children's hospital so there had to be resources around us. We have supportive friends and family. And God won't give us more than we can handle...right?