Turns out there is a common thread.
Tetrasomy i(5p) Mosaicism.
I heard back from her awesome geneticist last week. The results of her skin biopsy that was collected back in December were in. She has a rare genetic condition. How rare? Really. He said there were only a few documented cases. I suspect there are a lot more actual cases because it took this long for me to push and push for test after test and bring up issue after issue until we landed at the right place. And honestly, most parents just aren't as insane as that.
But what does it change? Not much. We had already identified scoliosis, heart defects, growth issues, digestive issues, speech delays, motor delays, skin issues, and probably a lot more that I am forgetting. She already sees many doctors and maxes out on therapies at school and through private facilities. The only thing that all other identified patients exhibited that she has not are seizures. It makes me nervous to think about it because those are a real game changer. (That being said like everything else isn't...ha). But managing life for a child with seizures is complex and I'm fine with our current level of complexity.
It's nice to have a diagnosis, but it doesn't change a thing about this amazing girl.
(As an aside, if you see me regularly and think "I only ever see you in gym clothes....or pajamas." Well, it is more about practicality at this point. I still love pretty clothes; I just can't justify buying them when I don't have a job earning an income and I wouldn't want to just let stuff sit in my closet.)
She also is quite the helper in the kitchen. (Here she is "helping" make whipped cream). She loves to bake and anytime there is something that involves pouring or mixing, she is on top of it.
And she LOVES her brother (and his messy room...this was after Nolan and Ben got back from a ski trip to Colorado, thus all of the clothing all over the floor). I know she was blessed with a strong-willed, big-hearted (and traditionally terrorizing) big brother in Nolan. She loves to wake him up every morning and give him kisses and hugs before bed at night. They can finally play together and when I hear the giggles, I know they were created for each other. And that makes me so insanely happy.
So we have this diagnosis. And it really doesn't change anything. I did find a couple of blogs/social media pages of a couple of other kiddos with the same diagnosis. I reached out, but didn't hear back. Which is a little disheartening, but you never know where they are in the journey. I just hope in the coming weeks, her geneticist can find the complete research papers and let us know if there is more that we need to be doing.
In the meantime, I'll just continue to soak up all of her preciousness.
(And kind of related, we saw her orthopedic doctor a couple of weeks ago. Now that her heart is repaired and her sternum has healed, she will go back to serial casting next week. Fingers crossed that will a little bit of growth she can see some positive results from casting and get her thoracic curve to a more manageable place and we can delay surgery for a long long time.)