Hi
Just making a thread to hear stories from other parents with children that have mitochondrial disorders.
My ds has a suspected rare mitochondrial disorder after his bloods and spinal fluid showed high lactate/lactic acid levels. His mri came back normal but they think he may have high signals bliterally. (whatever that means) he has severe developmental delay, low muscle tone and learning difficulties, and due to this he cannot sit for long or crawl or walk.
We have had tests done the past year but still not had a proper diagnosis. He has had a muscle biopsy to test for the more common types of mito disease but all came back negative.
They are looking into his mitochondrial dna but we have been told it could take years to find out the cause of the problem. His normal dna which has been tested by genetics has also picked up an abnormality but we have not been told what that means yet as they are still investigating further.
So ive been searching for others that may have been in the same situation but doesnt seem to be many out there! I also know my son is not as ill as other children with mito so i am a bit sceptical!
Would be lovely to hear similar stories :)