The walk to the Specialist’s office felt like a walk to the electric chair, except I was voluntarily walking towards my end. Josh and I sit down in the stiff and unwelcoming chairs in her office and I take in a deep breath. Lucky for me, I had unknowingly chosen the chair that was smack dab in front of the box of tissues. Good - because I was going to need them. The specialist, let’s call her Dr. R, began to tell us about her findings from the ultrasound. She tells us that the baby doesn’t in fact have Hydrocephaly, he or she has a birth defect called Holoprosencephaly. What, you’ve never heard of it? How strange. Well, neither had I. After the second or third time she said the word I had to ask her to spell it for me, and I plugged it into the notebook on my phone (gotta love technology) so I’d be able to look it up later. Dr. R explained to us that while Hydrocephaly is an excess of CFS (cerebrospinal fluid) that builds up in the brain ventricles, Holoprosencephaly is an actual problem with the brain tissue itself. Damaged - no good. The lobes in the brain fail to separate and distinguish themselves, as normal functioning brain tissue should. This leads to any number of learning and physical disabilities, if the baby even survives the pregnancy and birth. Basically, Dr. R told us that the prognosis was “not good”. There were those stupid words again.
She was able to redeem herself when she told us that Holoprosencephaly and Anencephaly were unrelated and that all the folic acid in the world wouldn't have prevented something like this from happening. I liked her a little bit after that. Next we talked about options. Of course there was the option of terminating the pregnancy (HECK NO) and there was the option of inducing me early so that basically we could "move on". Dr. R explained that they were there to do whatever we wanted and made sure that we understood that it was all up to us. Thanks Dr. R. Isn't there someone who can just tell us what to do? That would be nice. Just, someone tell us what to do!
It was good to hear that she didn't really believe in the idea of termination because there were so many regrets involved - uh, duh! That also earned a her a few more points in my book. "Bad genetics" or not, I just couldn't imagine going through with that. That's my baby in there! So many pro's and con's to every choice. Decisions, decisions, decisions. While inducing early seems like a better choice, is it the right choice? If the baby was for 100% sure NOT going to live at all, then when did it matter if we delivered? But then, if the baby has even a 5% chance of living, then who are we to cut that time short? And then, having a stillborn is a lot different than having a baby that survives delivery, and then dies shortly after. And even still, it terrifies me to death thinking that there is a chance the baby will live long enough for us to take him or her home and bond completely and fall in love with him or her - only to have him or her taken away from us. I can't imagine that devestation! Who wants something like that? Do I? Do we? Could we handle that? And even scarier, what if this baby is one of the few that survives for years - but has learning and physical disabilites so great that all our time and effort go towards caring for him or her and our other fall by the way side. That doesn't seem fair either? None of this is fair! What did we do to deserve this? Why us?
As the meeting with Dr. R continues, Josh and I are also informed that there are possibly some other physical abnormalities that the baby might have, but it was still a little too early to really get a good look. Dr. R thought that maybe the baby might have cleft lip, and some finger and toe deformities, and possibly even something wrong with the baby's nose. This appointment just keeps getting better and better. Next, we are told that while the baby has Holoprosencephaly, it also looks like he or she has a Trisomy defect, namely Trisomy 13 or 18 - neither of which have a good prognosis. Trisomy 18 is non-compatible with life, and Trisomy 13 babies live minutes, hours, or maybe months if we’re lucky (so we’re told). The only way to tell for sure was to have an amniocentesis which would be able to tell us all the nitty gritty. The only bad part was that we have to wait at least 2 weeks for the results. Seriously – more waiting! There was some good news though. There was a preliminary test called a FISH (fluorescence in situ hybridization) that would provide some general genetic information in just 48-72 hours, including whether or not the baby had a Trisomy defect and whether it was a boy or a girl. Days instead of weeks? YES please! I was all for getting an amniocentesis done, and I’m pretty sure that Josh was too. Anything that could tell us more about the situation was good in my book. Dr. R picked up her phone and ordered us an amnio right that minute, and next thing I knew I was laying back on that stupid table, getting ready to have a HUGE needle stuck through me. Sounds like fun, right? No. Trust me, it was anything but. There were two ultrasound techs and Dr. R in the room. They had to keep the ultrasound on so the Dr. could see where she was sticking the needle through my uterus. It was all very surreal. Lucky for me she used a higher gage needle (meaning smaller in diameter), unlucky for me, this also meant it took her longer to draw enough amniotic fluid. I felt every centimeter of that needle going through my stomach, and I felt it when she pushed it through my uterus and I felt the resistance of the amniotic sac when the needle was pushed through it. It was painful and very uncomfortable when Dr. R started drawing the fluid. I could feel every jiggle of the needle. But it was all going to be worth it, right?! Yes. It would be worth it. That was my mantra during the whole procedure. Then she ripped the needle out (OUCH) and told us to watch for certain symptoms related to the amniocentesis (fever, bleeding, cramping, pain) none of which I experienced besides the cramping, thank heavens. Dr. R reminded us that it could be a few days for the FISH results and that we should hear from her by the next Monday at the latest, and that the Amniocentesis results would take at least 2 weeks - and we would come in to see her for those results and possibly another ultrasound. Then we were on our way out of the office and the hospital. Again, it was time to wait.