Muscle Biopsy Results

Early this afternoon our Neurologist's nurse called to tell me our sweet Kendall definitely does not have a Mitochondrial Disorder. There apparently are several factors that determine this, and all of those tests came back normal. Yes. Normal.

I started to cry happy tears.

Then, the nurse told me she had a Type II Muscle Fiber Atrophy, but it was not specific to any disease.

Then I was confused. She had these tests run on the 16th, and they all came back quickly. It made me think we didn't have a full report. I called a friend who had been down this road recently, to discover they had the same experience...the initial pathology report came back normal, but the enzyme testing which identifies the different chains, Complex 1, 2, etc....later came back positive.

I then called our Genetecist and asked her to look up the results (thankfully they are in the same system as our Neurologist) and call me back. She reviewed them, and I just got the call. She stated that it was definitely NOT Mito. There are several factors and they all came back normal. The Type II Muscle Fiber Atrophy is very non-specific. It simply means that because of her brain issues, she has hypotonia which is picked up on the test...which really isn't anything new to us. She said there were no results for the enzyme tests and she said it didn't look like they were run in the first place, but she would check with our Neurologist. I asked if we needed to add them if they weren't already, and she said absolutely not.

So there you have it. I guess I had prepared myself for the worst. Hearing this news makes me very grateful that she does not have an identified progressive disease. It brings me back to my optimistic mindset with her. It has removed the looming dark cloud that made me constantly question when the other bomb was going to drop. I could focus on making sure the rest of the enzymes were normal, and figuring it all out, but I've had enough! I need to trust our genetecist that we're in the clear. I don't want to know anything else :)

Thank you all for your prayers.