I have been trying to get a diagnosis for nearly 40 years.
I have finally gotten a referral to a Duke endocrinologist, who said she
thinks I have Schmidt's Syndrome, also known as Polyglandular Autoimmune Syndrome, Type II. I did not know what that involved, so I googled it, and one of the conditions that can also occur in people with Schmidt's is MG. I have asked for (and gotten) a referral to Duke's Neuromuscular Clinic, and I have an appointment this Friday (July 24th) for a single-fiber EMG. I have been researching how to prepare for the test, which is how I found this forum. I can definitely sympathize with the frustration expressed by some posters.
This is the first doctor who has gone in the autoimmune direction, and I think she may be on to something. Autoimmune stuff runs in my family. My dad has CREST, Reynaud's, Sjogren's, Scleroderma, Psoriatic Arthritis, and Fibro, and one niece has Lupus. I don't have any of those things, but nobody has ever been able (or taken the time) to figure out what I
do have. I have had ovarian failure, thyroid failure, and now adrenal failure and pituitary insufficiency. The Duke endo thinks this may be due to glandular antibodies, but did not order lab work to confirm on my first visit. I will ask for these antibody tests when I see her again in August.
I have had severe fatigue, general muscle weakness, sensitivity to heat, exercise intolerance, and unrefreshing sleep since I was about 12. I have been told I was depressed, and that I have Chronic Fatigue Syndrome--neither of which are true. I have been told I just need to exercise and lose weight, but exercise of any kind puts me in bed. I cannot walk or stand for more than 5 minutes. If I don't sit down, I feel like I will fall down. I avoid doing anything that requires standing in line or walking any distance. I cannot climb stairs--up or down. My legs feel like they will simply give out.
I am exhausted all the time, no matter how much sleep I get. I struggle with simple activities of daily living. My hands do things I'm not trying to do, and don't do things I am trying to do. I drop things I just had hold of, and knock things over when I reach for them. Lately, I run out of breath before I finish a sentence--which never used to happen. I have trouble standing on one leg to put on/take off my pants. Not only is my leg too weak to raise it that far, but I lose my balance. My eyelids do not droop, but I have trouble focusing after a few minutes of reading, and by the end of the day, I can't read street signs when driving.
I am curious if anyone else on this forum has Schmidt's Syndrome with MG? It is hard enough to get an MG diagnosis without throwing in the confounding hormonal issues. Adrenal failure is
very hard to manage with oral meds. I never know if the weakness and fatigue are because I need more cortisol, or from this other "something" that isn't diagnosed yet. Taking more cortisol helps within about 15 minutes, but cortisol only has a 100-minute half-life, so it doesn't help for long.
I have to be at Duke for the SFEMG test at 8:00 am on Friday, but I live an hour away from Durham, so will be on the road by 6:30. I will make sure not to eat tomatoes or chocolate this week, and will force myself to not drink any iced tea for 24 hours before my test.
I will be sure to be warm for the test. I will try to walk around to wear myself out before the test, but I'm afraid they may find me rolled up against the wall somewhere in a hallway.
I will let you know once I have the results, but I don't know how long it will take for those. My PCP has given me lab orders for an Anti-Ach Receptor Antibody Panel and the Anti-MuSK Antibody. I think I will get the first one and wait on the second one until I see what the results are for the first one and for the SFEMG. That Anti-MuSK test is reeaaally expensive.
I am on Lovenox blood thinner for life, due to a prothrombin gene mutation. I checked with the EMG Lab at Duke, and they said I didn't need to stop the blood thinner. Does anyone else use a blood thinner, and have you been told the same thing? Are there any other things I should know about for this test? Did you have a lot of bruising or swelling? Has anyone else been to this clinic at Duke?
Sorry this is so long. I have a complicated situation, but I've tried to be as brief as possible.
Rose