Sorry, I haven't responded sooner. Was waiting for the results of my DOK-7 testing which was negative. I am so frustrated because I don't think anything further will be done. The geneticist didn't even want to do that test because she felt strongly that whatever I have displays dominant characteristics (although I gave no paternal family history). I asked her what she thought it could be and she said she would not investigate or take two separate paths and since I insisted on the dok-7 that is the path my "treatment would take". She gave no input and now I am wondering if I should have picked the colQ testing or ???. I saw a powerpoint presentation on CMS that gave the order of CMS tests and how they should be done (Duygu Selcen, Mayo clinic) and dok 7 was number 3. My testing was at Prevention Genetics in Wisconsin and I am wondering if they can use the same blood sample to do testing for rapsyn and colQ if I can find someone to order them (I know many physicians but trying to convince one to do it may be tough).

So far I've only had the MG panel that my HMO performs, not sure what exactly it looks for but it was negative. The neurologist wanted to do an anti-musk but it was denied by her chief. I've been through 3 neurologists and am currently working with one that specializes in neuromuscular disorders, the first two had no knowledge about CMS and one laughed in my face until I sent her one of Dr. Engel's papers.

My symptoms are not severe and I've always been able to adapt but about 40 years of age they have become a little more pronounced and interfering with my daily activities. Odors are especially troublesome. Perfumes will drive me up a wall unless they smell like something edible (I can handle fruity, berry, citrus smells). Fertilizers, tire rubber, and weed killers also trigger a reaction. My mother used to insist that a cleaner she had to use in her job made her worse, I looked up the cleaner and it contained glutaraldehyde. That got me wondering because I work with photographic chemicals (developer and fixer) and formalin for preserving lab specimens and have had my job for 25 years. Now I am wondering if I could just have some kind of chemical induced MG but that wouldn't explain my childhood symptoms. Time will tell since we are transitoning to digital and the chemicals will be gone.

I am so frustrated and feel this forum is the only place where there are others like me.