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we suspect mito

Posted: November 4th 2009

andnowtheres2

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We most recently went back to genetics because of issues with my daughter. She has Classic Autism, Noonan Syndrome, abnormal eeg(with excessive electrical discharges happening at different times-labeled seizure prone), musty body odor(hard to describe), blood sugar issues, hypotonia, a normal MRI and C-Spine etc- just to name a few.
She had Chromosome analysis by high resolution genome-wide SNP arrays to rule out aneuploidy
metabolic testing including:
ammonia
chemistry panel
lactate/pyruvate
Plasma amnio acids, quantitative
Plasma carnitine(total, free, acyl-carnitine)
T3
T4
TSH
Von Willebrand(had done in 2006 for her easy bruising and everything was normal but they wanted to run it again)

We got all of Ky's results back and everything came back normal despite her saying about discrepancies everything looks to be normal. Well if there is discrepancies what are they and why say but they look to be normal. I put in a request for a copy. They gave us no recommendations etc and said that we should followup in a 3-5 years as technology continues to grow. I just don't know what to do!!! Any suggestions?? Thanks!!!

I will say this to everyone

Submitted by arktjk on Wed, 11/04/2009 - 10:09pm.

I will say this to everyone I know over and over-you must get a copy of every single test you or your child has done, no matter what the disease/problem is, even if you are healthy and get regular blood work done. You have the right to it. Look at the numbers and if they are at all are out of the normal range, they need to be questioned or if a CT/MRI/xray says there is an abnormality question that. If your current doctor will not discuss it or blows it off, fire them and move on. I recently have come across thousands of pieces of paperwork here and there throughout our house which were our daughter's medical records. We had a copy of everything and I am glad we did. We ended up seeing so many doctors over 8 1/2 years,and we were able to bring past medical records to the new doctors which makes things go much quicker end sometimes eliminates repeating tests. I am sorry I don't have any other suggestions about whether you are dealing with mito, but good for you for asking for the medical records! I hope you will have answers soon. Beth
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