Friday, June 21, 2013

Albuterol, the wonder drug

It has been a long time since my last post, mostly because I feel like my disease is hardly an issue any more.

In 2011, I was diagnosed as having the DOK-7 gene mutation, which was causing my congenital myasthenic syndrome (CMS).  The cause of this disease that had been sapping me of my strength for so long was finally pinpointed.  At the time I had the genetic tests done, my disease had been steadily progressing for about a year.  I was at the point where doing simple household chores was nearly impossible.  I was exhausted all the time, and I could barely walk more than a few steps at a time.  I was beginning to think my strongest days were behind me and that in the days ahead I would be completely wheelchair-bound.  Who would have thought pinpointing the problem gene would lead to such a drastic turnaround?

There were cases of people with the DOK-7 mutation who had responded well to ephedrine.  However, ephedrine is pretty much impossible to get in the States now.  So doctors tried albuterol, with much success.  My doctor decided to put me on the medicine, and the difference was unbelievable.  You can read more about my initial experiences here.

It has been over two years since I began taking albuterol, and I feel like a pretty "normal" person.  I still have facial weakness, but it is so great to be able to walk and not worry about my legs giving out.  I have attempted running, and have done a couple of 5k runs, but I struggle with shin splints.  So I usually stick to walking and hiking.

I am optimistic that the albuterol will keep working for me, and I am hopeful that some day there will be a medication that will improve my facial muscle strength as well.  I would love to have a big smile!