Wednesday, March 18, 2015

A "little" update

^^ See what I did there? 

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:
  1. Achondroplasia (the most common form with the least complications)
  2. Osteogenesis Imperfecta (aka: Brittle Bone Disease - often comes with many complications)
  3. Thanatophoric Dysplasia (this form is fatal)
The good news is that the signs mainly point to the 1st one - Achondroplasia. The docs said it is "extremely unlikely" he has #3, but they can't officially rule out #2 until he is born. Based on the U/S pics his bones look straight and solid (without bowing or breaks) which is more indicative of Achondroplasia so that is a very good sign.  However, until he is born we will not know if it's actually OI which is affiliated with reoccurring bone breaks throughout life, deafness, respiratory or heart failure, spinal cord and brain stem problems, and permanent deformities often requiring use of a wheelchair. Obviously we are hoping that the signs and "best guesses" are correct and once our son is born we will learn that is it the most common form.

"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.



  1. Hi Chicken. Your 'little' news is big news! It sounds like you may get your healthy baby boy after all. It is impressive to read how fast you have come full circle to embracing this challenge. That is sign of a mature parent. I'm going to have to stop worrying about you. (((Hugs)))

  2. Your tone sounds more at ease, which I am happy to hear! It sounds like you have a plan for the "what ifs" and I am relieved to hear that the doctors are leaning more towards Achondroplasia. I'm praying that he will cook for as long as possible and that he is healthy as can be :) <3 <3 <3

  3. When I am troubled by something, I often pray for a perspective change. It seems like you have a achieved this. I will continue to send good energy your way as you navigate this uncertainty.

  4. I'm glad you're working through the shock and figuring out a new plan for your family. I'm sure the waiting will be difficult, but hopefully you can use the time for rest, research, and preparing for your little guy. Keep him cooking in there - you're doing an amazing job, mama!

  5. continued T&Ps - for a safe & healthy delivery of a healthy little boy!
    (Also - just really wanted to share this blog I found: from a mom raising her toddler who has Achondroplasia (and is so adorable!))

    1. Thank you for this Kate!

    2. absolutely! (I'm sure you'll discover on that blog - she's got Achondroplasia growth charts to plot Baby Boy's stats on!)

  6. I love that sentence "Regardless of what happens, the one thing we do know is that we are going to love the SHIT out of this little guy." That is a true mother talking right there!

  7. "love the SHIT out of this little guy" - hell yes. AND I WILL TOO!!! No matter the circumstance, this little boy is a perfect little miracle. I'll be praying and hoping that you get the best and most reassuring results possible.

  8. I'm so glad to read that the doctors are thinking it is Achondroplasia. I know nothing is for certain right now, but I hope it provided a little comfort knowing that they think it is very unlikely it is fatal. As you said, no matter what you are going to love him and we are all going to support you and love him too. Hugs.

  9. Loving him from the DR!! Praying for you...

  10. Thank you all so much :'-)