Hypotonia

Oh, Cheryl:(

that is so frustrating:( it happened to me too before that the appointment was cancelled and I wasn't notified but we didn't have to travel an hour...

somebody, somewhere doesn't do the job and then you end up wasting so much time and it causes you so much stress:(

I loved seeing all of Bricen photos:) he is such a cute boy:)

(((((((((((((((hugs))))))))))))))))

The blog is wonderful!  Thanks for posting the link, the information is priceless and Bricen is adorable!  I'm curious, how did you find out that Bricen has optic nerve atrophy?  Were there symptoms and is there a test for it?  I've had by 2 year old daughter at the eye doc twice and this last time she said that she doesn't need to see her again until she's 5-ish.  I took her b/c one of her eyelids is slightly droopy or not exactly like the other eyelid.  Apparently it doesn't impede her vision and it's barely noticeable but I was still concerned.  The first visit they dilated her eyes but they didn't do that this past visit, said it wasn't necesarry.  It's silly but I'm still paranoid about whether or not docs are "right".

I too worried about Mito or something else metabolic.  We finally got in to see a neuromuscular specialist.  She looked over all of the testing we've had done, which is everything except muscle biopsy or the electrode stuff (can't think of the name).  She examined my daughter and got a history.  After all of that she said there was nothing to lead her to think that anything metabolic was wrong.  She said Keira's issue is not neuromuscular.  So, I'm relieved but still wondering what could be the cause of the low tone and developmental delays. 

Our next stop is a pediatric developmental clinic.  At that point, we need a break from docs!

I'll be praying for Bricen.

Mary