Tuesday, November 23, 2010

Muscle Biopsy Enzyme Results are In...

6 months later.

The original pathology report came back normal.

The enzyme tests had to be sent to New York.

The Dr. finally called back today with the results.

When you have to wait for the Dr. to call...it's never a good thing.

She had one enzyme come back low in the muscle test: Succinate Cytochrome Reductase.

It's part of the respiratory chain.

He had to spell it for me.

They recommend further testing. A Coenzyme q10 analysis. It requires more tissue.

We are starting her on 50mg of coenzyme q10 immediately.

He's sending us back to the Metabolic Genetecist we saw a year ago when her Endocrine System went haywire and we heard of Mitochondrial Disease for the first time.

She will tell us if we should move forward with the "further testing." And what else we should add to her multivitamin cocktail.

Guess what else helps kids with Mito? The Ketogenic Diet.

Happy Thanksgiving.


Reagan Leigh said...

So sorry about that whole mess. Makes me so mad that they didn't send it for the right testing to begin with! Helloooooo...this is our kids' MUSCLE we're talking about! Handle with care!! Please try not to freak out too much til you get the whole story from someone who can decipher those results for you.

Karen Owens said...

I agree with Tara -- it all can be so confusing! It's so scientific and messy. Hang tight. Thinking of you all!

Debbie said...

Not sure what to say....

sorry that there has been much confusion re. the biopsy.

Hudson's deficiency is in the Electron Transport Chain
he gets 50mg of COQ10 2x a day.

My thoughts and prayers are with you!

Anonymous said...

Regarding the Ketogenic Diet:


You are great with your instincts, keep it up!

Cjengo said...

I have been watching for other updates. I am saying some prayers.