We have just received the results of my son’s muscle enzyme analysis. The report says its completely normal. Instead of low enzyme levels, a common finding in mitochondrial disease, his levels are high in 3 different complexes.
We have reached the end of diagnostic options. His doctor says our last option is Whole Exome Sequencing (WES).
So far we have a mild muscle involvement, dysmotility, and ketoacidosis with hypoglycaemia. He fits no profile for metabolic disorders and was negative for the mitochondrial disorders (the 22 most common). His muscle biopsy was basically normal though did not rule out mitochondrial disease.
Right now I’m considering our options. He is doing really well with the G-tube and has put on around 5 kg in 2 months after not gaining for 2 years. So on the one hand, things are going well. I’m disinclined to pursue any invasive or painful tests for now. Intestinal biopsy is on the table due to the intestinal issues, but since things are going well, no one (including me) is very interested in pursuing this option.
Basically, we are left with WES and getting a second opinion. I’m inclined to do the latter as I really need some new eyes to look at his issues.