Quote:
Originally Posted by Stellatum
Yes, this is Abby questioning her diagnosis yet again. How do people with seronegative MG ever banish the specter of adult-onset congenital myasthenic syndromes?
I am the second of eight children. I know some forms of CMS are recessive. None of my siblings have symptoms...or do they? I have one sister who has been dragging herself around as long as I've known her. She's 39.
Besides testing negative for antibodies, I have little or no ocular symptoms. I also don't respond to Mestinon. I am thinking Dok-7. But, my first symptoms hit two years ago, when I was 43, which is unheard of (I read that symptoms can appear as late as age 30, but that even that is rare).
On the other hand, my overwhelming memory of childhood is being tired. I remember walking home from school every day, just dragging my feet. I looked up the distance: it was only half a mile. I spent long hours lying in bed reading.
I'm poking around on the internet, of course. I'm also taking a good look at my siblings. If one drooping eyelid in the family appears, that's going to change everything.
Abby
currently on Imuran, which my doctor is sure is going to send me into remission soon.
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I am relatively new to all this and in the process of getting my son diagnosed, but if you suspect DOK 7, the answer is a blood test away. They have identified the gene, and I believe you either have that mutation, or you don't. In poking around the internet, I also found a study from 2008 where they found that 2/3 of those who test seronegative are not seronegative at all...they just have low titre antibodies...in other words, the test just isn't sensitive to find the antibodies. In 2/3 of those in the study, they tested for the immunoglobulin in the endplate itself..and found it. I sit here in utter disbelief of how little is known about these diseases. At this point, they are suspecting that my son may have limb girdle CMS...the publication disclosing the identification of this gene was in February 2011. The science on this is in its infancy, and THAT is very frustrating.