One Year Later (close enough!)

I have been on Albuterol for almost a year now. I think I sort of neglected my blog because I was feeling so good! But I will take a few minutes to share what the last year has been like.

I started noticing an improvement right away. After the first week or so of taking Albuterol, I was able to walk so much more. I was starting to feel normal! I was so excited that I planned a trip to Costa Rica, which would give me a chance to finally do some hiking. I went in March, about 6 weeks after starting Albuterol. I am proud to say I hiked 20 km (about 12 miles!) in one shot to get to the midst of Corcovado National Park. Unfortunately I ended up with massive blisters that later cost me some toenails! But it was very empowering, and I knew that the rest of my life would be different.

Because I started walking around so much, my legs were in constant pain. For a while I was worried I would be in pain for the rest of my life! But thankfully, it was just my muscles building up. They had been idle for so long, they weren't used to working so much! It took a few months, but eventually the pain went away.

I've also been able to start running. I can't believe it! When I was in elementary school, I was fairly mobile but a slow runner. I always hated having to run in gym class. I also hated playing games like Duck, Duck, Goose, because I was so slow I always ended up in the middle. I'm still not a fast runner, but I was able to run my first 5k on Thanksgiving Day this year. I'm hoping that in the new year I will be able to keep running and improve my speed.

One disappointment with the medicine has been that it does not improve the strength in my facial muscles. I still have droopy eyelids, a smile that often doesn't work, and my speech gets slurred after talking for a while. But I'm hoping that as more research is done on CMS, more effective treatments will come around. For now, I am so grateful that I can get around so easily. I never have weak days anymore. I no longer have to worry about whether my disease will keep me from doing something. It is truly amazing!

DOK 7 CMS

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!