So, this afternoon we had our follow-up with Dr. Hawlthore.
Jacob’s MRI turned up clean, as did his DNA blood work. I’m relieved, but then that means we’re back to the same thing as before where we don’t know any more as to why he has these muscle problems.
The doctor started talking about how it could be a genetic disorder which wouldn’t show up on a DNA scan. He gave me the contact information for a geneticist in St. George because he said it would be easier and sooner to get in to see her than the geneticist here in Vegas. Go figure!
His other option was to go ahead and do a muscle biopsy! It would be an “open biopsy” due to the size of the muscle, which means that they would have to put him under and surgically remove a piece of whichever muscle they choose.
Again, as with everything else that’s dealing with this child, I’m very conflicted. One side of me says, “Heck no! He’s just started to form visible muscle and you want to cut into it!?!” I remember how long it took me to recover from my c-section and I was a grown woman. Of course it wouldn’t be that drastic of an incision. Still, I can’t help but feel sick when I think of this route.
The other side of me feels like this could really give us some answers. By researching the muscle under a microscope the doctors could tell if his weakness comes from his nervous or vascular systems as well as maybe being affected by some sort of connective tissue defect. The biopsy would just be able to distinguish between several different myopathies (muscle diseases).
I think, for the time being, we’re just going to let everything be. We’re getting him fit for braces in a couple of weeks and we’ll see how that goes. The braces coupled with therapy could do a world of good. We can always revisit this at a later date, when he’s much stronger and we’ve exhausted ALL of our options.