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!

In the beginning...

Everything seemed fine at first. I went through the first years of my life with no major problems. I tended to hit my developmental milestones on the late side of normal, but it didn't seem to be late enough to really raise concerns. Looking back at old photos now I can see my slightly droopy eyelids and my weak smile.

I was never a fast runner, and always hated games like Duck, Duck, Goose! It was so frustrating to always get caught! But I was still pretty active as a child- jumping rope, playing on the trampoline, roller skating, riding my bike & climbing trees. I started really having problems when I was nine. I was falling down a lot- my legs would just give out. I could no longer do flips on the trampoline, and I absolutely could not run. My gym teacher told my parents there was something really wrong with me. So, the journey began....

Our first stop was an orthopedic doctor. He thought I might have arthritis in my knees, causing them to give out. I was sent to intensive physical therapy three days a week. Well, myasthenia tends to get worse with exercise. So I found myself quickly deteriorating. The doctors were stumped, but eventually someone suggested I go to a neurologist. It seems I spent the whole summer having various tests and procedures done, but finally I had a diagnosis. After about 2 years of struggling, I was finally able to put a name to my condition: Congenital Myasthenic Syndrome (CMS). My parents told me in the car on the way home from the doctor's office. The first question I asked was "Am I going to die?" They said no, so I was a little relieved by that at least. But I saw my dreams of being a cheerleader go up in smoke!

Oh well. Such is life. You never know what is going to happen. It took a long time for me to come to grips with this disease and the physical limitations I would have because of it. But with time came acceptance, and a determination to make the most of my life- regardless of my situation!