This isn't about MG exactly, but I hope it's allowable--if not, I ask the moderators to delete the post. It's just that in your research, I know many of you have learned a lot about related conditions.

I'm not diagnosed. I think I probably have MG, but the antibodies tests are negative, and my SFEMG is only slightly abnormal. I have weakness in my arms, legs, and neck, but by far my worst symptom is truncal weakness that makes me tilt left and right and sometimes back and forth as I walk, from the waist up. This weakness is much worse in the late afternoon. There are times when I can't walk at all.

I have seven kids. My 12-year-old is put together strangely. He is gangly, with long thin fingers and hyperflexible joints. I took him to the cardiologist, thinking he might have Marfan's, and his aorta measurement is borderline, so he has annual echocardiograms to follow it. At his last appointment, the cardiologist said he seems to have some connective tissue disorder, probably an undiscovered one. It's mild.

One of my other kids has a genetic syndrome, Alagille's, that gives her cardiac and liver problems. It's a dominant gene, but she's a new mutation (the doctors think). But she has some of the skeletal characteristics of her brother.

The other day, I was watching my son with his shirt off. He was just sitting on the floor playing a game. I noticed that his back bends backwards in a strange way--almost reminded me of myself when I'm especially "tilty."

So: some possible connection? Every disease I find that seems like a possibility creates high serum CK levels, and mine are normal.

A lot of you are in the same boat as me--no diagnosis, so no treatment. You know how frustrating that is. I've had symptoms for a year now, and suspect it's going to be a loooong time before I get a diagnosis, if I ever do. So, thanks everyone, for your help, and for your support. It's nice to talk to people who understand!

Abby

have you ever been referred for genetic testing?

It seems like there is something going on in your family.

I think Annie posted something about the rare disease program they have in the NIH. it may worthwhile to look into it. They may be quite happy to have more then one person in the same family, which makes it much easier for them to find the faulty gene.

It could or could not lead to treatment, but it may possibly give you at least more clear information regarding the correct diagnosis.

alice

http://www.marfan.org/marfan/2407/Find-a-Doctor

Or ask these guys who might be an expert in your area!

Nothing is farfetched when you are trying to solve a medical puzzle.

There are usually places at Universities where they test for genes like that. That's a good idea, Alice.

I hope whatever is going on that you can figure it out. Don't rule anything in or out until you know for sure!

Annie