Hi Jan,
This thread brings up an interesting point for me. I see Dr. Phillips, an excellent neuromuscular specialist at the University of Virginia in Charlottesville, VA. However, UVA is a teaching hospital, and since Dr. Phillips has numerous patients, I always see the young doctors who are learning and working under Dr. Phillips. I don't mind that they are learning from what I am able to tell them, but at the same time, I don't understand why I am going there. There is no cure, and there is not much they can do for me. Do you think I feel this way because it is a teaching hospital, and I don't feel like a patient, but more like a learning tool?
Mary

Type of Myotonia: Thomsens

Country: USA

Mary, I'm 35, was diagnosed with MC at 14 and experienced symptoms as long as I can remember. The doctor who diagnosed me in Cincinnati, OH was one of the leading researching and medical doctors in the country at the time -- he's retired since--but like you said, after my doctor diagnosed me and tried some medicines that didn't work, there was nothing else for him to do for me.

I would go for yearly check-ups, but eventually I stopped seeing him. He was seeing people with MC from all over the country, but he would tell me things that didn't fit what I experienced, and he was constantly changing his mind about "the facts" of the disease.

I'm not him, but I think it's very difficult for people who don't have MC to wrap their minds around it. Once you get a DNA test and find out where it came from--through dominate or regressive means--there is little or nothing else you will get from doctors that you won't get from this site. Personally, I would listen to Jan's opinion on MC before I would listen to any medical researcher.

This is part of the reason why I think having a yearly conference would be a great idea. We would be able to meet and discuss the things that we only get to see in print.

Type of Myotonia: Thomsen's

Country: US

Hi Mary -
As you probably already know from my many other posts, I wasn't diagnosed until I was 54, as everyone my entire life believed I was "faking", clumsy, attention-seeking, "just chubby", etc.

Since there is really no true treatment for this, and because it is so rare, and there are many doctors who will never encounter it during their practices, I was more than happy to attend the Neurology Grand Rounds at the UCSD Medical School, so neuro residents could hear the dive bomb sound in real life, and see a real 'patient' and have questions answered.

Additionally, some of the things my diagnosing neurologist told me about MC were really quite inaccurate and culled from old information, so as I learned more about my condition, I wrote to him, to thank him, and tell him that some of the documents were woefully inaccurate, and asking him to adjust his mindset about this, factoring accounts from this forum into his knowledge base.

Because he is a scientist and professor, I believe he was interested and appreciative to have real life input. I feel the time has come for those of us who have MC to stop being put off or dismissed or superficially acknowledged by physicians. If they have a patient with a rare condition, it behooves them to know about it, and not just the most convenient, if inaccurate or inadequate, info. We need to demand that a physician entrusted with our medical care be at least as current as we are - and I always print out articles and forum threads to bring to any doctors I see!

I think a yearly conference is a good idea - but I'll bet it would be ill-attended unless it was paired with something else. ...unless we could offer CME's!

Type of Myotonia: Myotonia Congenita, Becker's type

Country: USA