I just got a new neurologist, and she decided to run some new tests on me, since the last one were done over 20 years ago. A lot has changed since then in the world of congenital myasthenic syndrome!
She did an EMG and sent off blood work for DNA testing. After the results came back, she said I have a genetic mutation of DOK-7, and not the slow-channel form of the disease I thought I had. This is why testing is so important! The new diagnosis means trying a different medication. I have just started taking Albuterol (just this week). So far, so good. No major changes yet, but I do feel like I have a little more strength, and climbing stairs already feels a bit easier. I should know more in a couple of months. It takes a while for the effects to build up. Meanwhile, I'm going to see what other research is out there for DOK-7 CMS sufferers!
Friday, January 28, 2011
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