Finally Diagnosed - CMS
 

I have been around these boards on and off since 2008. I was diagnosed with a Muscular Dystrophy of unknown etiology - until last year.

A research study found that I have a defective Agrin (sp??) gene causing a Congenital Myasthenic Syndrome. My doctors said it fits almost all of my symptoms. They also said that this genetic defect is very rare.

So here I am, now most likely diagnosed (finally) with CMS. I'm looking forward to meeting others with this illness and learning more.

Welcome! Glad you finally have a dx, but sorry that it is CMS. I know (from reading Annie's posts) that CMS and LEMs are somewhat different than 'regular' MG. But don't know much more than that.

What treatment have they recommended for you?

I am taking albuterol (4mg) 3x a day. It helps, but it's definitely not a miracle or cure. As of January 1, MY insurance reclassified albuterol as a Tier 4 medication and tried to charge me close to $600 for a 90-day refill. Fortunately, my doctor went above and beyond and found that Walmart would give me a 90-day supply for $12 (it turned out to be $15, but so what!!).

I was taking COQ10 as well, which I think helped a lot, but my Primary Care doctor told me to stop it because my liver enzymes were elevated (more than usual) and despite stopping Lipitor, they continue to rise.

I've noticed a decline in my energy and stamina since stopping the COQ10. I hope I can convince him to let me start it again IF we can determine it's not involved in the liver enzyme issue.