Wednesday, July 7, 2010

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.


Jessica said...

WOO-HOO!!! Happy tears indeed!! Lots of love to you guys!! Give her sweet kisses for me!

Reagan Leigh said...

Glad to hear that you were able to get everything cleared up. I just can't imagine them doing a muscle biospy for mitochondrial disease without looking at the enzyme assays (the single most important factor in diagnosing mito). So just assume they did and everything checked out just fine. Is the scar really 3in long?? I hope not!

Mo said...

Wow...such an emotional ride you're on. Glad to know that Mito does not follow that sweet girl's name. Whew.

Debbie said...

glad your family and Kendall are not joining our "club"...
she is so beautiful and it should give you much hope to have many, many years with her with much progression and growth as the years go by!

Praise God!!!

Anonymous said...

Horray!! Happy tears indeed.

Laura G

Anonymous said...

Happy for you, too, that she does not have a progressive diagnosis!

I am not an expert on biopsies. But many times I have read 'lab reports' that state a mundane physiological fact - like they just have to put in something.

There are two types of muscle fibers - I and II or fast-twitch and slow twitch. I suspect most children with multiple diagnosis have some 'atrophy' or reduced muscle development. Doh.

The good news is, she can develop more muscle mass while she well!

ParkerMama said...

THRILLED for you. Simply thrilled. Keep up that optimistic attitude. It's the best gift you can give that sweet girl of yours.

Tammy and Parker
@ParkerMama on Twitter

Dawson said...

This is GREAT news.... and we couldn't be happier

What a beautiful girl!!