So the verdict is that our son definitely has dwarfism. Unfortunately, the doctors will be unable to fully determine what kind until he is born. Technically, we could run testing to determine this - it would be an amniocentesis with a microarray - but this far along that makes very little sense since it would take about 2 weeks for results and it's likely I may go into labor around that time (more about that below) and having an amnio at this stage when my ute is full of fluid and already measuring at 41 weeks is a very bad idea and would likely cause me to go into labor (think: sticking a needle into an overly full water balloon). So even though it will be tough over the next couple/few weeks, our best bet is to just wait until he's born to see.
We talked about three major forms of dwarfism:
- Achondroplasia (the most common form with the least complications)
- Osteogenesis Imperfecta (aka: Brittle Bone Disease - often comes with many complications)
- Thanatophoric Dysplasia (this form is fatal)
"Common" is a funny word: According to the docs, the chance of this happening is somewhere in the range of 1 in 25,000 to 1 in 50,000. Both Hubs and I are of normal stature (EDIT: I've discovered the proper term is "average height"), there are no instances of this in any sides of our families and no reason whatsoever to think this would ever happen. After the "fluke" that was Petey's deformities and now this, the doctor joked that we should be playing the lottery. Har har. He also said we are an "interesting case study" (gee, thanks) as the only things he could see in common were the renal issues. (Both Petey and this baby only had/have 1 kidney but luckily this baby's one is working well whereas Petey's was not.) He said he does not know of any established correlation due to this but down the line when we start thinking about adding to our family, we will first be getting extensive chromosomal and genetic testing to see if there is anything to be found.
I can't even think about that yet though. For now, we are just going to have to live in this place of uncertainty while trying to remain positive and optimistic that our little guy has Achondroplasia and will be able to live a relatively "normal" life just as a little person. Thankfully there are no mental issues related to this... condition (I don't even know what to call it. Is it a disability? A disorder? I have a lot of research to do) and I will just continue to hope that any physical complications won't be too severe and we'll be able to get good help.
Regarding delivery, they've scheduled an induction for 39w but said it is unlikely I will make it that far due to all the pressure in there (mainly from the excess amnio fluid). As of now I am already measuring at 41 weeks so they are just hoping I make it 2 more weeks to 38 so that his lungs can better develop. However, this will depend on how my upcoming bi-weekly appts go (will consist of measurements, non-stress tests [NSTs] and Biophysical Profiles [BPPs]). If he ends up getting too big or is in any kind of distress they will induce earlier. The plan is still to try for a vaginal delivery but realistically it's quite likely I'm looking at a C-section since his head may not be able to clear my pelvis. It's also possible that the best decision may be to switch hospitals and deliver at one in Boston that is equipped to deal with any emergency surgery that may be required immediately after birth. The docs were leaning toward this being unnecessary but did agree to consult with others with more experience in dwarfism to make this determination.
So for now I am on modified bed rest with the hopes of keeping him in there as long as possible (until 39w) but I've been told that at the first sign of any kind of leakage I need to go immediately to the hospital. This is because although our son's head and belly are large, the rest of him is small, and with me having so much excess amnio fluid in such a big belly it is very possible he may not fully engage in my pelvis until many hours into labor (if at all) so there is a high possibility that the umbilical cord could be pushed out through my cervix instead and that would be a major problem.
That's all I can think of right now. The shock is starting to wear off and Hubs and I are working on coming to terms with the fact that our family will be different than how we always pictured. It will be challenging for sure but we just hope at this point he will be healthy. Regardless of what happens, the one thing we do know is that we are going to love the SHIT out of this little guy.
The next step (besides doing a whoooole lot of research) is telling family and friends. At this point I don't even know how to start that conversation.