Re: Very Frustrated With biopsy results

[Guest guest]

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Don't be so disappointed. A muscle biopsy, like a skin biopsy can havetwo totally different restults! Dr. Cohen told us that you rarely have FALSE Positives but do see tons of false negatives. Skin cells are affected differently in different areas. One area may be more affected than another. It depends on the sample condition, time it was tested, and so forth.

If your child was TOTALLY ASYMPTOMATIC, then they might lean more toward the negative result. ..However, when you have a symptomatic child, whose biopsy have revealed this defect, you can usually go by the positive result. I mean, how many times does one want to test the muscle/skin? How many different results would you get? We have had the exact same thing in our sons enzyme analysis testing. One gave us a DEFINITIVE answer and showed that his ETF-QO enzyme was only working at 25% and the next run, 6 mths later from another section of the same biopsy, showed NO defect!

This is all bogus and should NOT even be considered from what I understand. Why rerun something when you get an answer the first time. It was NOT our decision to rerun our sons test, it was the lab's protocol and it caused nothing but an upset. It left us with a Probable diagnosis instead of the concrete dx we had 6 mths prior. After hearing the dr's explanation on how the skin cells will range from good to bad to much worse in certain areas.....I do NOT see how a second Normal result can even take away from the initial diagnosis. It makes no sense.

After all, our sons blood labs, and urine tests have all suggested MADD or GAII and then came in the definitive GAII dx from the enzyme analaysis. We got it in writing and so forth that this is what he had and then....due to the new result, we had to take a step back to Probable. I think it must be a legal issue or something. Even though the dr's know all of the technical stuff that can happen in testing, legally they have to state it's probable if their are conflicting results. It's so crazy but just wanted you to know that the first one was probably the correct one if he's symptomatic and I presume he is or you wouldn't have had it done.

Feel free to email me any time.

Krystena s

GAII/MADD mom

Caden 5 yrs

Carsen 6 mths

Very Frustrated With biopsy results

Ronan had a muscle biopsy three years ago when he was 18 months old. They did the biopsy while doing his fundo so they took rectus abdominus muscle instead of muscle from his thigh (long story). The results showed a decrease in Complex IV enzyme and subsarcolemmal staining, but since they did not have the same muscle to compare as a normal the pathologists would not give a definative diagnosis of mito.When we were in Dallas at the conference Dr. Cohen had a quick look at our biopsy and said "he has mito" even though I said the biopsy was taken form the abdomen. He also said that subsarcolemmal staining is a sign of ragged red fibers.Two months ago we had a second biopsy. So far the histopathology says "no ragged red fibers" but did not comment on and subsarcolemmal staining. We don't have the enzymes back yet. I am so frustrated. I put my little guy through another biopsy and now it doesn't seem to have helped his diagnosis, in fact it will probably end up taking his mito diagnosis away!I just want to know what he has, I don't want ot go back into the black hole of no diagnosis. A mito diagnosis was better than not knowing at all!Please contact mito-owner with any problems or questions.