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Pieces to the Puzzle

I have always loved doing jig saw puzzles. Not those little ones you can finish in an afternoon - but those giant ones that have thousands of pieces, and take weeks to finish (if you ever finish them at all - let's be honest, they usually spent weeks taking up the entire dining room table until I need the table back for silly things, like dinner).

These days though - I feel like our whole life is one giant jigsaw puzzle. And the puzzle pieces are more, and more abnormalities that each different doctor finds when they see Asher.

We recently met with a new geneticist to try to help find a diagnosis for Asher. As he scrutinized Asher's most recent xrays, he noticed these tiny little "fracture like" pieces at the corner of two of Asher's bones.

Ok so Public Service Announcement: if you tell a mom of a 7 month old baby that her child has fractured bones, and she will proceed to go into full blown deer in the headlights - wide eyed - heart stopping - PANIC mode.

That being said - turns our that what he was pointing out were not actually fractures. But bone abnormalities that are a common trait of a very rare type of dwarfism called Spondylometaphyseal Dysplasia (Corner Fracture Type). Corner fracture's even right there in the name. So that is good news right? How can we confirm, you wonder?

Bubble burst #1 - this particular type of dwarfism does not have a specific gene mutation that has been discovered yet - so blood work cannot be done to definitively confirm this diagnosis.

Ok - well if he does have it, what all does that mean for Asher's future? What all does it affect, what do we need to look out for? Where can we look to research and learn everything there is to know about this so we can be super-duper prepared for everything that is to come?

Bubble burst # 2 - this particular type of dwarfism is so rare that there are only approximately 31 children worldwide known to have it. So there is very little information out there on it (other than the fact that it presents with progressive hip deformities that we would need to monitor and eventually intervene with)

Ok. So we can't really confirm for certain yet that is what it is. Even if we do confirm, we don't know much about it.

Alright doc - give me some good news here. I'm getting a little tired of trying to put this puzzle together and would like to see the finished masterpiece (and I'm ready for my dining room table back...aka, my sanity that is currently spent obsessing over the unknown).

That was when Asher's geneticist told me that he was going to send his X-rays to the radiologist at the International Skeletal Dysplasia Registry in California so that they can (fingers crossed) help us get an official diagnosis for him. They are the experts, afterall. At this point - I am over the moon. This is what we have been waiting to happen for 7 months now.

When my husband and I met with Asher's initial geneticist when I was still pregnant, he told us that the last resort would be for him to send Asher's information to a group at UCLA - the International Skeletal Dysplasia Registry. The International Skeletal Dysplasia Registry would be the group of people who our doctor would send his information to if he just frankly couldn't figure it out himself, and he would see if they would take the time to review Asher's case and help determine a diagnosis. But how long does it take to get to a "last resort"? How many years was this doctor going to try to run random lab test after random lab test, before eventually seeking out their help?

Thankfully Asher's new geneticist was all too willing to suggest jumping right to that resource. So here we are - waiting to see if in a couple months we get an answer. A confirmed diagnosis.

Or, which we are all too aware is a possibility, confirmation that our son is one of a kind. That God truly broke the mold when he created him, and that Asher is an entirely unique individual with a previously unknown type of skeletal dysplasia.

So until then, here's to the People's Champ - the coolest puzzle I've ever seen.

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