I tested positive for this genetic mutation. But what does it really matter? The treatments are just the same whether your EM is primary (genetic), secondary (coming as a result of another disease), or idiopathic (meaning, we don’t know where the heck this comes from). Genetic testing is fascinating, but it makes no difference in our treatment. Just didn’t want you guys stressing out over getting tested. L, p
I think it is important knowledge to have as it makes certain drugs more appropriate. Dr David Bennett at the John Radcliffe in Oxford UK who specialises in primary EM says he would try mexiletine for primary but not for secondary. If you have primary EM it is the mutation that is causing the EM and the mutation can be approached directly. As you know if it is secondary it is the disease that is causing the EM and it makes sense to tackle the disease and tackle neuropathic pain.
About 2 years ago they found two more sodium channels SCN10 and SCN11 which are less likely even than SCN9. So in the future there may be drugs targeted at these two channels as well.
Hi AJ, Oddly enough, I took my first dose of Mexiletine yesterday. Had a lidocaine IV Weds. The Mex is reported to extend the cooling effects of the IV. Am having a normal morning. Ofcourse a flare could come any minute, but I’m trying to appreciate right now. I’m fascinated with our losing the genetic lottery and will check to see if I have the additional mutations you mentioned. It’s really soooo fascinating. Have a cool day. P