What a day

What. A. Day. So we had our appointment down at Children's Memorial today with the head of Genetics and the head of Orthopedic Surgery. We were really hoping to leave there with answers, at least the best we could get. Unfortunately the x-rays they got from our previous dr. visit were not clear enough for them to diagnose the specific type of metaphyseal chondrodysplasia that little E has. So yes, she does for sure have this, just not sure what type. A tiny little part of me (well, probably a lot of me) was hoping that we'd get there and they'd say 'oh, that x-ray reading was not right, she does not have this'. So it was definitely a blow to hear that it is real and she has this. After meeting with the doctors we were sent to get a new skeletal survey done of her in the x-ray department.

First we met with the geneticist. He did a full physical exam on her, and did not really seem to see anything outside of her elbows (the contractures - they don't extend all the way). Everything else seemed healthy and normal. I asked him if he thought surgery would be likely in her future and his guess was yes, at some point she would likely need some surgery to address an orthopedic problem.  But said that many of them are quite simple now and typical surgeries to do. We of course talked about her height and really there's not a clear answer there and I don't think will be as noone can tell the future. Once we have the specific type identified (hopefully on Monday) they can give us a general range, which of course won't be helpful either. Perhaps something like 4' 3" to 5' 3". Obviously a big range that can mean very different things. So we will have to accept that and move on, she will be what she will be.

Then we met with Dr. Sarwarck, the orthopedist. He seemed a lot more comforting to us. He also did a full exam and did not see any issues outside of her elbows right now. His 'guess' was that she may go through life without needing any surgeries. He said seeing her right now, he figured that may be the case. He kept saying likely this is an 'academic' case, I think meaning that the condition exists inside her body and there is not a ton to see or speak of in her clinical evaluation and physical being. Which I think is meant to be a good thing. It's just we hope it continues this way and that her bones continue to grow as proper as they can.

Also, we talked about her height. Right now (at least at her 2 year appt) she's at the 17% of height. He said that often kids at this point will follow the curve they are on. So there is a chance she could follow that 17%-ish curve. Which is obviously quite normal. But again, who knows, she may not. So we cannot let ourselves hope for that I don't think. I hate even sounding like I'm focusing on the height things here, b/c I'm not. I will love little E to pieces no matter what height she is. What does that matter to me? It's just for her. As a parent, I want her to have the most 'normalcy' she can have and don't want her to go through any more hardships than needed.

So here we are, now waiting likely until Monday to get a call from the genetic counselor who will advise us what came of the x-ray readings. Many of these dysplasia's have a blood test that will allow for genetic testing, though some will not. So if it is id'd to be a type that we can do the blood test, we'll do that for a full confirmation. I am just praying now that it is a form that does not carry alot of additional health risks along with it. Seems alot more comforting if we will know we will likely just need to handle/manage orthopedic issues.

At this point, I think we are in an acceptance phase, where I am going to need to work through the 'why us and why my child' phase. This is so incredibly rare and I am just having such a hard time getting my head and arms around this, how in the world could my little pumpkin be affected with this? She is so perfect and wonderful. But she still is perfect and always will be. Nothing will change that. It's just a LOT to get my head around right now. So overwhelming.

I think her little sister will be arriving at just the right time in a few months to bring some sunshine to all of us and get our minds in the right direction. She is going to be such a blessing and I can't wait for my little munchkins to start their sisterly bond.

So that is all for now...we will see what the results bring and our journey will continue.