Hi. I am especially interested in your post because I'm seronegative too, and diagnosed by SFEMG. Mestinon doesn't really help me. IVIg did once and didn't twice, so I don't know. I'm always a little in doubt because the first neuro did two SFEMGs and found them inconclusive. The diagnosis was made by a different neurologist who did a third SFEMG.
Your doctor is wondering whether you have CMS, a congenital myasthenic syndrome. Here's the difference. MG is autoimmune. If you have MG, your nerves aren't communicating with your muscles properly because your immune system is attacking your muscle receptor cells and either blocking them or damaging them. But CMS is not an autoimmune disease. It means you're born with a defect in the communication between nerves and muscles. It might be that your body just doesn't produce enough acetylcholine, which is the chemical your nerves release to communicate with your muscles; or it might be a defect in the way your receptor cells receive the signal from the nerves.
The symptoms of MG and CMS are similar, but the treatment is completely different. MG is treated by suppressing the immune system. There are drugs for CMS, too.
In your shoes, I would push the neuro to find out who can make a CMS diagnosis. My understanding is that the Mayo Clnic is
the place to go for that. My doctor doesn't think I have CMS because I'm older (43 when I got my first symptoms), and for some other reasons I forget. I have been on Imuran (one of the drugs that suppresses the immune system) for about a year, and it's finally working for me. I'm getting better.
I hope you get some answers.
Abby
Quote:
Originally Posted by sunflower1116
I am a 25 yo F who works in the medical profession and was extremely active. After a miserable and frustrating, yet mild, Winter 2011 in NYC I was finally diagnosed with MG- and also told I had had it for 15 years (I have had ptosis and double vision that long).
I know many of you have difficulty reading long posts so I will try to keep myself brief. I need some advice/help.
My diagnosis via SFEMG MS was also ruled out just as a precaution- and in some magic most likely never to be repeated in the history of medicine- 3 neurologists agree I have MG. As of now I am Sero neg and MuSk neg. My Thalmus is fine.
Initally I was put on Mestonin, but it made me weaker and I was hospitalized because I could not clear the excessive secretions in my throat. Even when we played with the dosing it didn't matter.
We started IVIG and initially I thought it was the miracle all the nurses were calling it, but 4 months later I still feel like crap; I am realizing that the IVIG in the hospital worked because I was laying in a bed not doing anything, and not in my real life.
At my last visit my neuro mentioned doing plasmapheris, but we ruled that out because I am Sero neg and MuSk neg- she stated there is one more kind of type to test me for (a genetic autosomal recessive) but it would require a muscle biopsy and her hospital doesn't do them she needs to send me somewhere and isn't sure where she wants to send me. She also said treatment would be radically different because the type doesn't respond to IVIG or plasmapheris; which is why she thinks this is the type I have, but we are going to keep doing the IVIG anyway.
Does anyone have any idea what the heck she is talking about? Does anyone have and suggestions for me?
I have already cut everything out of my life except for work & IVIG. I don't even walk up the stairs in my house anymore, I use a chair lift- which is actually extremely depressing for someone who used to walk up 5 flights to her office.
When all this started I wanted to get back to the "old me." Now I just don't want to be exhausted and feel like I am dragging 50lb weights on my limbs by 10AM anymore.
Sorry I ran on for so long. I appreciate all of your suggestions.
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