We met with a metabolic doctor in August who thinks Scott’s symptoms could be caused by a mitochondrial disorder. This was not a complete surprise to us, but definitely good news since we weren’t getting anywhere with the BVVL diagnosis. The doctor based his opinion on an extremely sophisticated analysis of Scott’s acylcarnitine profile and other tests previously completed. More good news—the doctor is optimistic that a “mito cocktail” can prevent any possible degeneration in the future and may even reverse some of the neuromuscular symptoms Scott has been dealing with since 2009. It seem almost miraculous. Thank goodness there are such smart, dedicated doctors and researchers in the world.

I was nearly euphoric after the appointment, but of course, only time will tell if we are now, finally, on the right track.

Read more about the new diagnosis on the Medical Details page.

We continue to wait for the results of whole genome sequencing. It’s been more than a year and a half since we shipped off blood samples to the geneticist in London.