The diagnosis: What’s next

Lots of info on the different potential diagnosis we are working toward. But right now she doesn’t cleanly meet the symptoms of any. So they are all theories right now, that’s all. And now what you know, is what we know. And that isn’t much. 

Currently treating and testing for…

Auto-immune via steroids, until we have more info

Genetic disorder, just not mapped yet to DNA testing

Metabolic tests

Potential outcomes

Option A: If it’s auto-immune, it’s something in this family of paraneoplastic encephalopathy. Not a picnic, but not impossible, either. Just never seen in a baby is what we gather. An account of a grown up shows how severe it can be.

Option B: Rare form of epilepsy – Lennox-Gastaut or Dravet syndrome. Our astute epileptologist pointed out having a name doesn’t really make you feel better if it doesn’t help you solve the problem. But I think for now it’s a start for us.

Option C: Her brain needs help breaking down the creatine for a rare condition that she doesn’t make the enzyme or protein to break it down on her own. Could mean supplements and diet changes.

If you noticed the trend of all these you get the cookie! Well, maybe I already ate it, but you might have noted no matter what our options are at this point, it’s all rare.

I didn’t say it was exciting reading.