So we've been waiting since November 5th to hear if Cadence has the genetic deletion or mutation associated with Sotos Syndrome. As of my last post, neurology had called to say they'd re-looked at his MRI and now found some abnormalities. Rather than sad, as I was when we started looking at a name, I was optimistic. Even more evidence that we were not only heading in the right direction, but might actually be able to put all these puzzle pieces into the complete diagnostic picture.
So I waited for the call, but was pretty confident I knew the answer and was just planning our next step. That call came the Friday before Christmas, and once again, was not what I wanted to hear. He does not have the mutation or deletion. I was completely dumbfounded. This was not at all what I expected to hear. Now I understand, it is counter-intuitive to be wanting an abnormal test result. Most people would be jumping up and down that their kids chromosomes all look normal. But when you know there is something abnormal going on, but can't quite figure out what it is, having one more test saying everything is "normal" is disheartening.
I went through this several times when Cadence's seizures started. We had several EEG's that said everything looked normal, even though I knew all wasn't normal. I had to push and push to get an overnight EEG that finally showed what I had been saying all along - that he was having seizures. In fact, it showed many more seizures than I was even aware of.
Now I'm not going into every test hoping they'll come back quirky or bad. Hearing his MRI was normal was very relieving. At that time we didn't know if he had a tumor or something else horrible going on that was causing his seizures, so that was fantastic. But living in this world "undiagnosed" is very unsettling. There is part of me that wants to think that all the pieces are unrelated. Maybe he's just got some weird quirks. But there's a much larger part of me that knows that the chances that all of these things are not related is pretty slim.
So the roller coaster continues. I let this result sit with me over the holidays. I let it soak in, did some more research and reflecting. And I know I said I wished I hadn't asked the question, but now that I got so close to a diagnosis, and started to feel what it would feel like to be able to say this is what Cadence has, I don't want to let that feeling go. So we may be having some more tests. Talking to some more doctors. Now I want to try to finally get an answer. We'll see where it takes us. I might flip flop again and stop looking. I might have to decide to wait for research to catch up to us. But for now, I'm pushing on.