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!

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!

Creatine?

I remember hearing about Creatine several years ago, but I've never had a doctor recommend it for me. Last week I had a follow-up appointment with my neurologist, and I asked if there was anything to do to improve my muscle recovery time. And he suggested taking Creatine.

I'm not sure how long it will take to see if it makes a difference. It's bad enough I get weak so quickly, but then it takes so long to recover! It's really getting in the way of my 5k training! There is such a delicate balance, trying to push myself enough to improve, but not so much that I overexert myself and can't do anything for a week or two!

I've been really weak the last week or so, and there doesn't seem to be any explanation for it. But I am still determined to keep moving forward, to keep trying to figure out how to be STRONG! I already see that being more active leads me to having more energy and endurance, so that I am able to have more "strong" days. But man, on those weak days it is so hard to make myself be active. And I KNOW that even doing a little bit on those weak days is better than doing nothing. It's like I get "over-rested." So the more I rest, the longer it takes for me to recover. But if I walk, even for just a few minutes, when I'm weak, I tend to improve faster. Amazing!

Sometimes I really wish I could look inside my body and see just what is going on in there. What happens when a message is sent from my brain to the muscle? What exactly is the problem? Why is it so complicated? Once a muscle gets over stimulated, what is the best way to help that muscle recover? And there is the problem of the weakness in my mouth & eyes. That seems much more difficult to overcome than even my legs! My eyelids just do not want to open all the way! How can I give my eyes and mouth adequate rest, without sleeping? Should I become a mute and walk around with my eyes closed 80% of the time? Then the other 20% of the time maybe I could smile and my eyes would be wide open! Ugh. Wish I had the answers.

Well, if anyone has suggestions for how I might get stronger, please let me know! I am always open to suggestions! For now, I'll try the Creatine and see how it goes!

Road Block

I've been taking Fluoxetine for about 5 months now, and I seem to have hit a wall. Everything was going so great a month ago. I ran! I ran a half a mile! It was unbelievable. In fact, I did it twice! But I haven't been able to do it since then.

I have been feeling pretty weak. My mouth especially has been bothering me- trouble talking. I've lost my smile again. It is so frustrating. I had been so excited to see my smile- even if it was just for a little part of every day. Even my eyes were starting to open up. Now it's as though I'm not taking anything. I just don't understand it. How can it just stop working? Do I need to take more? Less? My doctors are just guessing.

I just want so much to be better. To be WELL. I love to travel, and it would be so great to be able to walk around the old cities without getting tired. Or to be able to hike, and see all the amazing places I can't get to in a wheelchair. I am still amazed that I was able to hike a bit in Switzerland. I think that really awakened something in me. I have seen so much beauty- even from the seat of a wheelchair. I went to Alaska and to Rocky Mountain National Park in a wheelchair. But it's a very limited way to view the world. And you have to find places that are accessible. Sometimes I just want the freedom that comes with being able to walk.

I have thought about attempting a 5k. Especially on the two days that I was able to run. There have been days when I have been able to walk as far as two miles. A 5k is slightly over 3 miles. So maybe it is possible. I just wonder how in the world I could train for that. It seems like it takes so long for my muscles to recover. If I could just figure out how to work out enough to get a benefit, without overdoing it, maybe I could really get stronger. Maybe I could really increase my endurance.

I keep wishing there was some easy solution- like some apparatus I could put on over my legs that would enable me to walk without getting tired. I've seen the exoskeletons they are developing, but they aren't available for sale yet, and they are too expensive for me any way. But I do wonder if they work on mountains! Maybe they will come down in price in the next few years so that the average handicapped person can actually be able to "walk" instead of having to use a wheelchair. How amazing that would be!

There is a woman with MS, Wendy Booker, who is so inspiring to me. I first read about her in Prevention magazine several years ago. She was able to compete in marathons even with MS. When she was diagnosed, she was determined not to let it keep her down, and worked out with a trainer to develop and maintain her muscles as much as possible. She said there were days when she was so weak she could only lift a 1 lb weight, but she did it any way. Now she is working on climbing the Seven Summits. I know that MS is a different disease than congenital myasthenic syndrome. But both are neuromuscular diseases, and neither has a cure. Both have varying degrees of weakness, and affect each person differently. My case of CMS is relatively mild. Perhaps it is possible to train my body to work more effectively and efficiently. Maybe it is possible for me to be able to climb mountains. I just have to figure out how!

4 months on Fluoxetine

Back in March my doctors and I decided to try something new. Since mestinon and other similar drugs always made me significantly weaker in just a short period of time, we decided to try Fluoxetine. Mestinon is used for several types of Congenital Myasthenic Syndrome, and works to allow more acetylcholine to reach the receptors in the muscles. Fluoxetine works in the opposite way, blocking acetylcholine from the receptors.

Generally after a week or so of treatment on mestinon, I start to notice I'm getting weaker. The longer I take it, the worse I get. So I started researching on the internet, trying to see if there was anyone else going through that. I found a story about a boy who had been taking Mestinon since he was a young child, and at age 14 was on a respirator and confined to bed. The doctors discovered he had Slow-Channel CMS and switched him to Fluoxetine. Within a month he was able to breathe on his own, and after about a year he was able to play on his high school football team! I was so inspired and hopeful that perhaps this could work for me as well.

After the first week of treatment, I could already tell I was walking more easily. By the end of the second week I was walking up stairs like they were nothing! Over the last 4 months my strength has continued to improve. I no longer have problems breathing, chewing or swallowing. My eyes are more open, my smile is bigger. I can walk farther than ever before. And recently I was able to start running! I haven't run since I was about 8 years old! That was 24 years ago! It was so exhilarating, being able to run. My first run only lasted about a minute. But recently I have been able to run up to 1/2 a mile. This is astonishing for me. I never thought I would be able to run. My hope is to be able to start hiking. I have read about a woman with Multiple Sclerosis who is hiking the 7 Summits (the highest peaks on each of the seven continents). I would love to be able to do something like that! I know it will take time, and a lot of hard work and determination. But it would be worth it.

Mestinon (and other unsuccessful treatments!)

Mestinon is pretty much the first line of treatment for patients with congenital myasthenic syndrome (CMS). It seems to work pretty well for most patients- enabling them to live near-normal lives. I can't tell you how many times I would read statements like that and be filled with frustration! Mestinon always made me worse! It was the first drug we tried, and I very quickly became weaker. So we decided to try another drug. My doctor prescribed Guanidine Hydrochloride, and I was on that for a few years. I was 11 when I was diagnosed, and started using a wheelchair at age 12. I'm not really sure if the Guanidine helped. It became increasingly difficult to obtain, so my doctor had me stop taking it just to see what would happen. And nothing happened. I was exactly the same. So I went through the rest of my teenage years being on no medication, and continuing to get weaker.

When I was in college, I was really having a lot of problems. My doctor suggested we try Mestinon again, thinking perhaps we just didn't get the dosage right in the beginning. So we tried again. And within a couple of weeks I was having serious problems chewing and swallowing, and was literally afraid I was going to choke to death! So, I stopped taking it.

I felt so hopeless, thinking that there was no treatment for me! How could other people have so much success with Mestinon, and it just made me worse? I really didn't understand. But I was hopeful that eventually there would be something that would work for me.

A few years later, my doctor mentioned a new drug that was showing a lot of promise. People who hadn't been able to walk at all were now able to take a few steps! I thought that since I could already walk a little, maybe this would help me be normal! I was so excited. The drug was 3,4 Diaminopyridine (DAP). Now, I should have had second thoughts when my doctor said you have to take it with Mestinon. But, being the optimist I am, I thought maybe Mestinon combined with 3,4 DAP would somehow end up working for me! I was wrong! I went from being able to walk around the house with no problem, to not being able to get out of bed- within 2 weeks! It was awful. I had never been so weak in my life. I was afraid I wouldn't recover. The doctor told me to stop taking it immediately. Thankfully I recovered within about a week. I was 24 at the time.

After that experience, I knew I needed to find ways to be as strong as possible, without medication. I didn't know if or when there would be a treatment for me, but I wanted to do as much as I could. I'll write more about that later!

When I was 27, my doctor suggested we could try the 3,4 DAP again. He said it had been re-formulated since my first experience with it, so there was a chance maybe it would work better for me. Ever hopeful for something that would make me stronger, I decided to give it another chance. We used a lower dose, but unfortunately I had the same result. Only this time instead of taking a couple of weeks to make me unable to walk, it took about a month. Finally my doctor said we would never try that again!

I was so discouraged by these attempts at medication that I didn't even go back to my doctor for several years. It wasn't until I read an article about Monarsen- the latest drug being tried for CMS- that I decided to go back to the doctor. My doctor was no longer working for the MDA clinic, so I got to see a new one. So, last fall I headed back to the neurologist for the first time in 4 years. I told him all about my past experiences, and asked if he was familiar with Monarsen. Unfortunately there are currently no trials in the U.S. for this drug. So that was out. He asked if I had ever been on Prostigmin, and I said no. He said it's kind of like Mestinon, only different. Well, I was apprehensive, but since it was a little different than Mestinon I was willing to give it a try.

No luck. During the last few years, my strength has improved significantly without medication. I haven't used a wheelchair in two years. But I was not able to run, or walk for long periods of time. And there were many times I had to hobble along. So of course I wanted something that could make me strong all the time. Unfortunately, Prostigmin was not the answer. Within a couple of weeks I was no longer able to take my daily walk. At first I told myself it was just a coincidence and I was just going through a weak time (it happens!) But after a couple of months, I was again completely unable to walk.

Thankfully I have again recovered and am back to my normal self. But I started doing some research to see if I could find anyone else who had such negative reactions to treatment. That was when I started reading about the different types of Congenital Myasthenia. I had had this disease all these years, and never knew that there were different forms of this disease!

I have just recently started taking Fluoxetine, which is used to treat the slow-channel CMS. I do not have a confirmed diagnosis for slow-channel CMS, but we decided to give the Fluoxetine a try since it works the complete opposite way from Mestinon. I've only been on it a month, but I definitely notice I have more endurance. I'm able to walk longer, faster, climb stairs with absolutely no problem. It's been pretty amazing. I don't see any real improvement in my facial muscles, but maybe that will come. At least now I finally feel like I could be on the road to recovery!