Diagnosis & Cedars Sinai Update

Befuddled.  Unsure.  Doesn't match any patterns; constellation of symptoms don't point to anything definitive.

Those were some of the words I heard this morning when our high risk OB called to tell me he had received word from Cedars Sinai about Will's scans last night.  I had known this call would likely be coming this week so I jumped up with anticipation when I saw the number on my cell phone this morning.  I was actually excited for the call...excited to hear someone else's opinion on our sweet boy.  At the same time, I have learned enough from other parents that have been through similar things to know that nothing is definitive and even the experts can be wrong.  So, I was excited to hear what they thought, but not ready to put all of my faith in their diagnosis.

I guess the short version of the story is that the primary doctor at Cedars Sinai that reviews ultrasounds of babies expected to have a skeletal dysplasia was stumped by Will's scans.

• I'll start with what the doctors did agree on: his chest is really small and within the lethal range (his is .45 and they usually say anything less than .6 is lethal).  It's so awkward when this comes up, though.  I can tell our high risk OB is very uncomfortable talking about lethality and making any statements that sound too definitive.  Anyway, it is within the lethal range numerically, so we'll just have to wait on Will to show us how strong he is when he arrives in a few weeks.  We also have another ultrasound next Wednesday to look at those measurements again in utero.
• Now for the part that isn't so cut and dry according to the doctors:  the rest of his body doesn't perfectly match any of the dysplasias (there are over 380 types).  For months now, we have been headed down the path of osteogensis imperfecta (OI) because the doctors have spotted likely fracturing in one of his femurs and humeri.  I say likely because we haven't spotted any obvious fracturing, like sharp angulation, etc.  His femurs are also measuring short, less than the 5th percentile, but his humeri are measuring close to on-time.  According to the doctors that spoke last night, that leaves them kind of stumped.  
• It doesn't appear to be a classical case of OI, so they're not exactly sure what it may be.  

SOOOOO, we're really where we started in this whole journey.  We won't know until he arrives.  :)

I actually find it pretty amusing..we've taken all these steps to further an in utero diagnosis and we always end up right back where we started.  Will keeps stumping us all, even the experts!  I guess part of me is excited by the fact that he's not a clear cut case.  I was really expecting them to come back and say he has lethal type 2 OI and be done with it, but the fact that they don't really know what's going on gives me a little more hope.  This little boy has made me cry tears of grief on many occasions and yet he always surprises me.  I pray that he continues to surprise us all and I know that with God's help we're all in for an amazing journey.

This information does leave us with the quite little predicament.  We were all settled to have a c-section on May 2, but this week I've had two different doctors tell me that they would try to deliver naturally.  On Monday, we met with a pediatric geneticist that advised us against a c-section.  She was mainly basing this off the fact that I haven't had a c-section before and that Will's chest is within the lethal range.  Her thinking was why risk a c-section if he won't make it?  I expressed my hopes to her that he would prove everyone wrong and that if he does have OI, I wanted to try to minimize any additional fractures.  She suggested we wait to see what Cedars Sinai had to say and then decide.  Basically, she said if Cedars Sinai said it was lethal to deliver naturally.  SOOOO, we all know now what Cedars Sinai said... lethal but they don't know that it is OI.  I asked my high risk OB this morning what he thought and I also told him what the geneticist had advised.  He agreed with her and advised that he would recommend a natural delivery.  All of this is still an ongoing point of discussion for us and I really think the final decision will be left up to Carlton and me.

So, here's the thing.  From everything I've read and all the parents I have been in contact with that have gone down this road, most always advise to go the c-section route.  I'm so torn about what to do.  I know I'll be praying about it and hopefully He will help me make the right call for us.  In the meantime,  if you're a parent that has gone through something similar, I would love to hear from you.  What is your opinion?  What advice do you have?  Feel free to email me (thetallchickblog@gmail.com) or leave a comment below.

So, that's where we stand right now...exactly where we have been standing the last 34 weeks.  :)  Please continue to pray for our family and our miraculous little boy that loves making people scratch their heads.  I just have to say that I absolutely L-O-V-E that about him already...  mischievous!

Will @ 33 weeks...just hanging out!