Thanks again, I will see the Neuro opthamologist next month and ask for a breakdown but I had a cursory glance (upside down) and only one figure shown. I imagine that other bloods that would be relevant.

I do have my SATS taken fairly regularly and have a portable finger gauge, so I know I sit at around 96% during the day. Night is my scary time dropping well below 90% without cpap. 94-96 with cpap which is ok.

The problem arises should I knock mask off, even partially. Then the crazy dreams etc kick in. I think hypoxia plays at least a part in that and as I had surgery to remove Uvula and take some palate away it is not obstructive sleep apnoea. Somehow my lungs revert to a very shallow breath, obviously not getting the message to pick up and raise O2.

As they would say here, I am ready for the hills.

Fatigue makes us depressed.

Look after yourselves everyone and I will let you know how it goes.

My father had MG and was acetycholine receptor POSITIVE. I spent 14 years being tested, tested, tested and getting all kinds of different diagnoses. My tests for MG came back negative, but my doctors felt it was related to my father's condition.

All the symptoms described fit me. I began having trouble breathing when laying down in 2009. I currently sleep using a ventilator (cpap & bipap failed because my breathing is too shallow). I'm lucky that I can still use a regular mask instead of being trach'd.

Several years ago, Children's Hospital was conducting a research study and my blood was sent. It took over 3 years, but the results came back last year. Most tests were normal BUT a very smart doctor (not my regular one but one of his Fellows) saw that it did show a defective AGRIN gene, which causes a Congenital Myasthenic Syndrome. They said it fits ALL of my symptoms.

DING DING -- we have a winner and I am finally diagnosed.

So just because the standard MG test isn't coming back positive doesn't mean that there isn't some Myasthenic disease at play.

Thanks Madalot. I do think that the medical profession is becoming totally dependant on results, scans etc. It's like the old pilots, they flew by the seat of their pants but they knew exactly how the plane should perform and made instinctive judgements. Now autopilot, computer and technology have removed the instinctive feel.

I will pursue this but as you say yourself it can be an uphill struggle.

Take care.

I spent the first 38 years of my life being a weakling and being teased and tormented because of it. Then it took another 14 years to get a FIRM diagnosis. And if not for the Children's Hospital study (which is done and not available now), I'd still be in the land of the undiagnosed.

My doctors claim that my particular genetic mutation is extremely rare. Regardless, there ARE some treatment options for CMS and my doctors are working on them with me.

Before this, I was diagnosed with Myotubular Myopathy, then Limb-Girdle Muscular Dystrophy, then Mitochondrial Myopathy. But we kept going back to my father's (deceased) FIRM MG diagnosis. It just made sense that it had to have something to do with that, even though I was testing negative.

All I can say is don't give up and keep pressing on, taking advantage of any opportunity for testing. You just never know what they will find.

Madalot, that sounds so like me. teased for being a weakling, no stamina as a child. As a young adult, friends got into distance running, I collapsed after 200 metres. Stress convinced A&E that I was in shock, I was actually delivering a friend who was really hurt.

And now I am being told that as I am seronegative and have no ptosis, then I can't have any Myasthenia. At the last meeting with the Neuro, my partner did ask... "CMS?" "No not possible." says the expert.

Trouble is I am getting worse, and at a worrying rate. So I have no idea where it will end.

I feel for you juliejayne. I truly do. My decline continued at a fairly steady rate for years. I feel so fortunate that my doctors did NOT give up and now that we have confirmed CMS, the treatment options they are giving me are making a positive difference.

I had forgotten what it feels like to feel like doing something. I still need my power chair and use a rollator when walking, but I just FEEL so much better than I did.

I didn't realise that you were wheelchair dependent Madalot. Good for you for keeping at it and tackling life.

I was at a meeting recently to raise awareness of Functional Neurological Disorder (which is part of my present diagnosis). I have an interest in Genealogy and often in searching my family tree I would often look at census from say 1901 1911. In these you will see the Imbecile, Idiot, Dumb or Lunatic. Most suffered from fits from epilepsy, learning difficulty or depression. You were useless if you had no hearing and speech, depressive states could get you locked up indefinitely and given electro convulsive therapy (still used to a lesser degree today).

What was believed then was wrong and I have no doubt whatsoever that todays assumptions will also be found wanting.

My point is you are all right, neurologists, psychiatrists and psychologists DO NOT KNOW IT ALL. Most are I suppose genuinely trying to help but making the patient feel a fool is not the answer.

Every time I have my yearly appointment, I meet with Physical Therapy and Occupational Therapy (my University has a HUGE MD program). In speaking with my Occupational Therapist a few years ago, my walking struggles were becoming too much and the risk of falling too great. She said that as much as she admired my desire to keep walking, it was time to accept that the dangers outweighed the benefit.

I look at my situation like a bank account. Every morning, I get a deposit of strength/energy and I have to budget it to get through the day. Using the power chair to move back and forth through the house (and when we go out obviously) allows me enough strength/energy to get my own lunch, clean up, etc. If I am organized and very, very careful, I can do laundry. But I can only do this because I use the power chair to conserve strength.

And trust me - it's a balancing act to be sure. And I frequently "overdraft" and pay dearly for it.