When you've spent much time around the world of special needs, you learn a few things. One of them is, people don't tend to have lots of random things going on, and none of them be connected. There's usually an overarching diagnoses. A genetic disorder. Something.
So with each new thing that has come up with tiny, I have known, the day was coming when we would get our third diagnoses. A couple of months ago, after tons of hours of researching, and reading medical journals, I came to the conclusion of what I thought it was.
I mentioned it at our ortho appointment, and he sort of agreed he fit the criteria, but wasn't interested in diagnosing him. It was frustrating for me because I want answers at this point. It helps to know which way to go. It alleviates fears of bigger things. It makes state insurance for kids with special needs easier.
Yesterday morning we made our second trip to the developmental pediatrician. I made the appointment for stupid early in the morning so we could see the actual doctor. Then, I showed up, and somehow they had made the appointment with a nurse practitioner. I'm not a great person when sleep deprived, and I nearly fell apart.
It really turned out to be the best thing. The n.p. we saw had seen Abigail five or so years ago. She remembered us. I listed our 'things we have noticed' and she immediately said, 'sounds like we should see a geneticist.' I asked at our first appointment six months ago. I didn't even have to ask this time.
There was lots more to it. But, I won't wade you through all of that. We have a diagnosis. It will be confirmed with a geneticist. It is what I thought it was going to be. And, it was nice to put all of the pieces together.
So Asher's list of medical junk: single umbilical artery, vertebrae anomalies causing congenital scoliosis, lipoma at the base of the spinal cord, genitourinary defect, hydronephrosis (this has already resolved for him, but is still included), congenital heart defect (it is very small and doesn't cause any issues), shoulder girdle weakness, clinodactyly in a couple of fingers and toes, and thumbs that tuck under. It's possible that after a little more upcoming testing there may be more added to the list, but these are the knowns for now.
Asher has what is called VACTERL association. It is not a genetic disorder. It is a group of congenital defects that often occur together. You only have to have three letters for diagnoses. There are some other defects that can happen with it, but aren't part of the diagnostic criteria.
Asher has V,C,R, and L. Sometimes there is an S on the end, that isn't part of the diagnoses, but stands for single umbilical artery. The genitourinary defects are sometimes linked with the A, but also not part of the actual diagnoses criteria. And, the lipoma also isn't uncommon with all of it, but not part of the diagnostic criteria.
We will see a geneticist because sometimes there are genetic disorders with lots of these things, and they'll want to make sure nothing is being missed. It's possible that the diagnoses could change, but it's unlikely at this point.
Even with all of that, he is doing great. He's a very active almost fourteen month old. He's trying to stand on his own, and has taken a few steps. He love blueberries and oranges, black beans, and olives. He has started to give lots of hugs and kisses voluntarily. He smiles at everyone. Our lives are so much better with him in them.