Okay, here are the nuclear mitochondrial exome sequencing results! BEWARE!! The following may be a little technical.. 😉 And I’m still trying to process things myself.
I wasn’t expecting them to find so many mutations! 23 were found in all….! That’s horrible.. :
You want to hear something a little scary? The lab found a mutation in the RYR1 (ryanodine receptor 1) gene which is associated with things like central core disease, minicore myopathy with external ophthalmoplegia, and malignant hyperthermia which can be fatal.
Wait till my pain dr. (who is an anesthesiologist) hears about this! Dr. Boles wrote that “it is prudent to consider this patient (me!) as affected with MH.” He said my parents and siblings should be considered to be at high risk of developing MH as well until proven otherwise.
I also have a mutation in the GARS (glycyl-tRNA synthetase) gene which can cause things like Charcot-Marie-Tooth disease, distal hereditary motor neuropathy, and other disorders like those. My variant, P.K102R, is “rare and predicted to be damaging by algorithms of protein function.”
One of Courtagen’s physicians will be contacting me hopefully by tomorrow to further discuss the report. 🙂 I have a lot of questions! The dr. even forwarded my questions to Dr. Boles—I’m excited to see what he says!
Part 2 of these results will come soon..