Been months since I have posted here, I have been busy playing medical detective and getting to the bottom of my problems.
I finally have a diagnosis- Ehlers Danlos Syndrome that is confirmed and the treatment is starting to work well.
I wanted to post it here, because I had ALL the classic MG symptoms with this. My neuro was Certain I had MG, but all my tests ( including a single fiber emg) came back negative.
I had progressive muscle weakness.
I even had a short lived response to mestinon ( probably because it made the muscle contractions stronger before OD)

I then proceeded to test negative for MS, Brain tumors and most every neuro-muscular disorder.
I was on the brink of being classified as "somatization disorder" ( which can be a medical kiss of death, even though it is a real disorder), when I figured this out.

If you have muscle weakness and test negative for all neuro muscular disorders, find someone who is willing to consider connective tissue disorders and evaluate you.

It turns out that in some cases, your body will "protect" what it detects as an injury and "protecting" it with muscle weakness. If you are weak, you do not move as much. and the injury can heal. Unfortunately, in EDS this natural reaction is about the worst thing that can happen. Sitting down and "resting" because I was weak caused things to fall apart quickly.

What I was experiencing last fall was basically the equivalent of whole body severe tendonitis.

With proper treatment that started at the end of January, I have moved from constant pain ( at about an 8) with weakness to constant pain of about 2-3. And I have very high hopes of this continuing to reduce. I went from hardly able to walk from one side of the house to another to walking a little over a mile last thursday evening ( I needed to ice down afterward, but I did it...).

this may or may not apply to you, but wanted to let those of you who have tested negative or normal on neuro tests forever, but still have problems that there may be another area to look into it. Feel free to ask questions or I am trying to write and share about it here: http://rogueneuro.blogspot.com/ best of luck and blessings to you all.

Thanks for the post and good luck with the improvements!
No doubt any of us with a neuro disorder have fears and seek knowledge as many doctors have limited time to do what we can on our own time...

Thanks for sharing this info. I have been diagnosed with MG, but it's mostly a clinical diagnosis. I do think I have it, but I also have a diagnosis of Benign joint hypermobility disorder. I was told that I would be more likely to develop Osteoarthriits, which I have and that I could develop heart problems. I researched a lot more on my own. This diagnosis was given more as a passing thought by my former rheumatologist, so I'm not sure how much weight it carries. I do know that I am very hypermobile as are both of my daughters. I'm not sure about my son though. I'll check out your blog. I have a blog on blog spot too, which you can find once I sign up to follow yours.

Good luck to you!

Thanks for telling us. I'm so glad you actually have a diagnosis, and that this knowledge helps you manage the symptoms.

Abby

Your story sounds scarily similar to my own.

I am currently waiting to see a clinical geneticist regarding ehler danlos syndrome (EDS) as I score 7/9 on the beighton scale.

I have dysautonomia (partial) my main symptoms are postural orthostatic tachycardia, post prandial hypotension, gastroparesis. My oxygen levels drop on exertion and I find it difficult to maintain my body temperature. I have just started treatment on florinef to see if this can boost my blood volume and increase my low blood pressure.

EDS and POTS tend to run hand in hand, its estimated 60-80% of POTS sufferers have EDS. A good web site with a forum is
http://www.ehlers-danlos.org/forum/i...75c75fca1afa58

However neither my dysautonomia nor the EDS explain my double vision or pretty much constant ptosis bilateral and unilateral. Which is resolved with mestinon. Unfortunately the side effects from mestinon are now too great for me to continue with it. I continue to believe I have ocular MG.

I was I believe unofficially diagnosed with somatization / conversion disorder. I can only guess this is the case due to the way my gp started treating me and when I had to go to the ER I was completely ignored.

I have now changed gp practices and my new consultant and his team - despite the fact they are geriatric specialists - I'm 37- have been brilliant putting me forward for testing etc and actually listening to me.

I congratulate you on getting a diagnosis as I can appreciate how hard it is. By changing drs, eight days after my first visit I had a chronic skin condition diagnosed and treatment started after 13 years suffering with it at my old practice.

When your sick its hard to fight, sometimes you need a break just to regroup and get some strength back.

Well done!

rach,

having conditions piled on top of each other can be so overwhelming. Thanks for the pointer to the EDS forum. I had found the EDNF one, but it is pretty quiet. I will check this one out. I am so glad that you have found doctors who are willing to listen.
What I am finding with a genetic disorder is that too many doctors have the 'it can not be cured, there is nothing I can do about it, so I will ignore it" mentality. We have somehow gone astray in medical education....
please keep in touch, I will probably be over here in frequently.

nan

abby, thanks. You do amazing excellent work here. You touch the lives of many people and helped me a lot in a scary time. Keep it up ;-0

Shalynn
lotsof doctors now consider that BJHM= EDS, just without any complications or complaints. The problem with this is that with good management, you can sometimes avoid developing complications, but if you do not know you are at risk for them, you cann not avoid them ;-)
I will look for your blog.
Huggs and keep in touch.

Nan

In the UK geneticists here say there is no such thing as benign joint hypermobilty syndrome its ehler-danlos syndrome class 3. They seem very keen to get rid of the BJHS label. They believe there is nothing benign about it as many sufferers have lots of pain.

We are lucky here as EDS has been getting a lot of press lately and there seems to be a little more awareness of it. Saying that it is rare - probably undiagnosed if I get diagnosed my sister, father and mother will also get a diagnosis - figures are 1 in 10,000. But obviously it is a mainly x chromosome inherited disorder, so I would expect at least one parent to get the diagnosis!

I just wanted to ask Rogue Puppet do you have problems with local anesthetic's? Mine wear off really quickly or don't take at all. Can make dental surgery an adventure and having part of my toe nail removed was agony. The Dr told me to stop jumping around but I could feel the scalpel he told me I was imagining it! Apparently thats very common.

I also have the problem that my scars go very wide and the actual tissue of the scar looks tissue paper thin.

The forum I told you about is pretty good and there are quite a few people from the states on there. If you can get hold of the EDS booklets they do - I think you can download them - they are a revelation! All the symptoms I have that should have been picked up on years ago!

Good luck

Rach

Rach~I know your question regarding ansthesia wasn't directed towards me, but it struck a nerve.In the past, I've had to have three or four shots before I even get numb enough for the dentist to work on me. Luckily, I haven't had too much dental work.

Is there a good article either of you can point me to for the criteria for EDS?

I can bend my thumbs all the way to my inner arms, I can turn my wrists all the way around pointing down while my arms are turned up. My shoulders pop out of socket as do my knees. I have Osteo arthritis in my knees.. with pain and swelling.

Thanks for all of the info and again for starting this thread!