We got the diagnosis today. Jonah has some form of Junctional Epidermolysis Bullosa. We are not sure which kind. If he did not have Collagen 17, we'd know for sure he had non-Herlitz. He does. If he did not have Laminin 5, we'd know for sure he had the Herlitz form. He does. So both things are present, but obviously not in correct proportions or something. I don't really understand it. Basically, there is a wide spectrum, and all we know at this point is that Jonah falls somewhere on that spectrum.
The short version is that we don't really know where Jonah stands, and we still don't have a prognosis. Herlitz is the form where babies don't make it out of infancy. Non-Herlitz has a much better long-term prognosis. In any kind of Junctional, there is a risk for respiratory issues and teeth/mouth problems... among other things. The tests have told us all they will tell us. Observing Jonah over time will tell us the severity. We will probably not really know anything more until Jonah is close to a year old.
Here's the link to the DebRA site to give you an overall idea:
That'll catch you up to speed as far as what we know. Like I said, I haven't really done much research on the different types until now.
I really have no idea what it all means or if this is good news or bad news. Please just be in prayer for all of this - as I know you already are... that Jonah will lean the less severe way... that we will continue to see improvement and healing in Jonah's skin. He is SOOO strong. I really can't believe it. Even the OT and PT were talking about how strong he is. It is so hard to bandage him and do his range of motion exercises. But man, he's a fighter.
Maybe it's okay that he doesn't fit into a specific category. I think I like that Jonah's diagnosis is not so set - leaves it pretty open to God's interpretation, doesn't it? Leaves lots of space for prayer and miracles.
Thank you for joining us in praying without ceasing - all days, all hours, all time zones. Jonah is covered. You guys are amazing.