Myotonia Congenita

Thank you Rachel, the people at the Mayo has been a lifesaver for me. They are very understanding that I do not have no one in the medical field to talk to except them. They were more than happy to acknowledge any questions or concerns that I have and very quick to respond. I have search all over the internet for a support group regarding this disease but there is nothing. I was excited to see that the Mayo has started this and I am hoping to not feel alone even though I have not found anyone with this disease. It’s nice to know that there are people that can understand to some point on what you are going through.
Thank you and hope to chat with you again soon.

Kim

Looks like you might be a trailblazer Kim! Starting a thread on Connect may eventually payoff as people from all over the world tune in. Good luck and yes, I'm here if you you need to vent, cry, rejoice or just chat. Wishing you a tolerable day. 😊
Rachel

Hi @kimcvi, Since Myotonia congenita is a congenital neuromuscular disorder, I added this discussion to two related groups:
- Brain & Nervous System: https://connect.mayoclinic.org/group/brain-and-nerve-diseases/
- Bones, Joints & Muscles: https://connect.mayoclinic.org/group/arthritis-and-joint-conditions-268850/

Kim, did you only recently start to have symptoms of MC or is this something you’ve been dealing with since childhood?

Hello, thank you for adding MC to the other sites. I have had the symptoms as far back in my early teens. My mom just said it was going pains. As I reached adulthood I noticed it more in the winter and when I was pregnant. I spoke to my doctors here and they couldn’t figure it out. Then about 3 years ago I fell at work and my husband said this is enough. So I was referred to the Mayo.

Kim - Perhaps joining the Chronic Pain group, as well, may be of help. Get your feelers out there.

Thank you, I will do that😊

Hi Rachel @rwinney. I have discovered, at least for me, the increased strain on my eyes is due to my muscle weakness and neuropathy. I had started taking an alpha lipoic acid(ALA) supplement. After a couple of months I stopped taking it when I figured out it was causing my stomach and esophagus burn. Since I stopped I learned that it was the supplement that improved my energy. I believe it is the ALA that helps the body better utilize the glucose for energy. I had noticed an increase in burning pain from my neuropathy, a decrease in energy, and an increase in eye strain. My photobia remained unchanged for now. I just need to figure out how to take the supplement for its benefits without the side effects. I have emailed the manufacturer for advice and waiting for their response. Hope you find this helpful for your health.

@avmcbellar Hi and thank you for the advice from your personal experience. I take the "Protocol" (@johnbishop) -supplement regimen for my neuropathy which contains high levels of R- Alpha Lipoic Acid. My neurologist recommended ALA as well as Acetyl L Carnitine for neuropathy. I've been on the regimen since last September and just recently vacationed from it for one week. I cant specifically tell you I felt a difference in my eyes being off it, but definitely my neuropathy. I'm sorry your stomach didn't handle ALA well but. I think it's a great idea to reach out to the manufacturer. Are you aware of the Protocol (through Facebook)?

@rwinney, Rachel thanks for the information. Unfortunately, I am no longer on facebook to be aware of Protocal. I did hear from the manufacturer but I was disappointed with their advice to contact my physician. Seems like an easy way out. I plan to continue with trial and error until I find the right solution for myself. I want to avoid medications. I will follow up with Protocal, the supplement John recommended. How is your photophobia, decreased any after the opthalmology visit?

Hi @avmcbellar my wife and I both take RALA. from Life Extension. We both are aware of gastro issues with it, but usually are okay when we take it with food. If you have not done so you might try ordering it in 100 mg pills (I believe Drs. Best offers it in 100mg) and take more pills spread across more time or with different meals in the day. Linda did try the Protocol at one point but decided it was not for her, but I do remember that they ramp you up to the 1200 mg.day by starting you out with the 100mg dose several a day for a few days to get people past the stomach upset. Anyway, something to try if it helps. Hope you are doing well. Best, Hank