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!

Assistive Walking Devices

Several months ago, out of curiosity, I googled "exoskeleton legs." It seemed to me that surely someone out there might be working on a robotic device, like leg braces, that would allow someone like me to be able to walk farther, maybe even climb mountains.

I found a couple of things that were interesting. One is being developed by Honda, and it has a small saddle-type seat (kind of like a bike) and attaches to the feet. It runs on a battery, and apparently works by taking some of the weight off your legs and helping to lift your legs up for walking. Pretty cool. But kind of funny-looking. Still, I'm willing to look a little funny if it will allow me to walk further!

Another device I found is called HAL- Hybrid Assistive Limb. It's made by Cyberdyne, and looks a bit like a Storm Trooper outfit. But apparently they also make a half-body version for the legs only. This one attaches around the waist, and also uses a battery pack to lift the legs. They say it can increase your strength by a factor of 2 to 10, and they said it was specially designed for climbing mountains! Unfortunately it's not available in the US yet. But they say to be patient, it will come!

For now, there is a device that is a little lower tech, but may help me out. It's called Mu Smate, and it was developed by a man in England whose wife has multiple sclerosis. It straps around the back and goes down to the feet, and works by lifting the feet up. Others with MS who tried the device and were able to increase their walking speed and distance significantly. And even though I have Congenital Myasthenic Syndrome and not Multiple Sclerosis, they are both degenerative neuro-muscular disorders. So maybe, just maybe, this little device could help me too. I think it could be worth a try.

Here are links to each of these devices:

Honda device (I don't think they've named it yet!) http://www.hondanews.com/search/release/4872?q=walking&s=honda

H.A.L. by Cyberdine: http://www.hondanews.com/search/release/4872?q=walking&s=honda

Mu Smate: http://www.musmate.co.uk/index2.html

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!

wheelchair tennis? cool!

This morning on the Today show, there was a story about people who are disabled and play tennis in their wheelchairs. I love stories like that! There are so many people with disabilities that just want to live as fully as possible. Many disabled people find ways to participate in sports, music, film, theater.

Often the world looks at those of us with disabilities and thinks that we are incapable of doing practically anything. But most of us do not desire to lie around our houses, alone, watching TV and feeling sorry for ourselves all day. We want to LIVE! We want to experience so many things. Yes, we have to be creative in finding ways to do what we want to do. But it is worth it. There are disabled people who have created a way to ski (chair skis), surf, ride horses, drive cars with hand controls. I even recently read about people who hike-mountains!!!!- in wheelchairs! It is incredible, and so inspiring!

I want to be one of THOSE people. Not for glory or fame, but for my own personal satisfaction. I want my life to be full, and extraordinary. I am so thankful for the strength I have, for how much I am able to walk. So thankful that I can dance sometimes, that I can even now run- even if just a little bit! But I don't want my times of weakness to keep me from experiencing the world. I know it is not always easy to find a way to get around in a world that is built for people who can walk. But, I have been able to manage so far. And I want to do even better. I am going to keep working toward my goal of doing a 5k. I've already hiked down a mountain, and next I want to work on climbing UP!

Check out these links to some truly inspiring people:

Ester Vergeer: wheelchair tennis champ

Wheelchair hiker


Ivan Kozhouharov: paralyzed man attempting to climb Mont Blanc

Disabled Surfers

Oh yeah, I'm also an artist...

Here is a link to my art website, just in case you want to check it out: www.lizhume.com