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!
Showing posts with label muscular dystrophy. Show all posts
Showing posts with label muscular dystrophy. Show all posts
Friday, June 21, 2013
Thursday, December 29, 2011
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!
Thursday, June 4, 2009
Trying Fluoxetine
Several months ago I started doing some research online to see if anyone else out there was experiencing similar negative reactions to Mestinon and 3,4 DAP. What I discovered was astounding to me! There are different causes of congenital myasthenic syndrome! I couldn't believe I had never heard about these other forms of CMS.
***I started this post 2 years ago in '09, so it's hard to remember all that I was going through at the time. So instead of trying to recreate what I might have been feeling or thinking then, I'll go ahead and pick it up now with some of what I have learned.
The first thing I learned was that Congenital Myasthenic Syndrome can affect different parts of the synapse. (The synapse is the space between nerves that transmits an impulse {like a message} from one nerve to the next) CMS may be pre-synaptic, post-synaptic, or synaptic, which means the defect may occur in any of those areas. Then there are subtypes, including slow-channel (meaning the gateway to the synapse opens/closes too slowly, letting too much of the chemical in) or fast-channel (meaning it opens/closes too quickly and the chemical can't get through). Mestinon works great for fast channel CMS because it keeps the channel open longer. But this is also why it can be disastrous for people with slow-channel CMS. Too much mestinon causes extreme weakness.
Once I read this, I immediately concluded that I must have slow-channel CMS. My previous disastrous experiences with Mestinon led me to believe I needed whatever the opposite treatment would be. I read about two drugs- Quinidine and Fluoxetine.
Quinidine is a drug that is used primarily for heart patients. Because of the warnings, and because my neurologist at the time had not prescribed it before, we opted for the less dangerous Fluoxetine- better known as Prozac.
It seemed strange to be taking an anti-depressant to help me walk, but I was willing to try anything. My experiences with Fluoxetine are described in a couple of other posts.
Unfortunately, my self-diagnosis was wrong (and also unfortunately, my neurologist did not have me undergo further diagnostic tests to confirm the correct form of CMS). So I spent almost two years on Fluoxetine, and my condition continued to decline. I almost could not walk at all, and was feeling like I would never be able to walk again, when I moved to North Carolina and went to Duke Medical Center.
My new neurologist took some blood from me and sent it off for DNA testing. And what they found was a type of CMS that I was not familiar with. I had a defect in my DOK-7 gene. The good news was that they were having some success treating this form of CMS with Albuterol, which has been used for decades to treat asthma.
Throughout this ordeal, I have learned that getting the correct diagnosis is absolutely crucial. It is impossible to know based on the symptoms which type of CMS you have. Even people with the same cause may have varying degrees of severity and will react differently to the medication. I'm so happy to finally be on a medicine that works, and I am looking forward to a very active future!
***I started this post 2 years ago in '09, so it's hard to remember all that I was going through at the time. So instead of trying to recreate what I might have been feeling or thinking then, I'll go ahead and pick it up now with some of what I have learned.
The first thing I learned was that Congenital Myasthenic Syndrome can affect different parts of the synapse. (The synapse is the space between nerves that transmits an impulse {like a message} from one nerve to the next) CMS may be pre-synaptic, post-synaptic, or synaptic, which means the defect may occur in any of those areas. Then there are subtypes, including slow-channel (meaning the gateway to the synapse opens/closes too slowly, letting too much of the chemical in) or fast-channel (meaning it opens/closes too quickly and the chemical can't get through). Mestinon works great for fast channel CMS because it keeps the channel open longer. But this is also why it can be disastrous for people with slow-channel CMS. Too much mestinon causes extreme weakness.
Once I read this, I immediately concluded that I must have slow-channel CMS. My previous disastrous experiences with Mestinon led me to believe I needed whatever the opposite treatment would be. I read about two drugs- Quinidine and Fluoxetine.
Quinidine is a drug that is used primarily for heart patients. Because of the warnings, and because my neurologist at the time had not prescribed it before, we opted for the less dangerous Fluoxetine- better known as Prozac.
It seemed strange to be taking an anti-depressant to help me walk, but I was willing to try anything. My experiences with Fluoxetine are described in a couple of other posts.
Unfortunately, my self-diagnosis was wrong (and also unfortunately, my neurologist did not have me undergo further diagnostic tests to confirm the correct form of CMS). So I spent almost two years on Fluoxetine, and my condition continued to decline. I almost could not walk at all, and was feeling like I would never be able to walk again, when I moved to North Carolina and went to Duke Medical Center.
My new neurologist took some blood from me and sent it off for DNA testing. And what they found was a type of CMS that I was not familiar with. I had a defect in my DOK-7 gene. The good news was that they were having some success treating this form of CMS with Albuterol, which has been used for decades to treat asthma.
Throughout this ordeal, I have learned that getting the correct diagnosis is absolutely crucial. It is impossible to know based on the symptoms which type of CMS you have. Even people with the same cause may have varying degrees of severity and will react differently to the medication. I'm so happy to finally be on a medicine that works, and I am looking forward to a very active future!
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