I know that you are not up to anything right now, Rach. I thought we could pool together some ideas to help you - for when you are recovered enough to think. I'm going to start all over, pretending I don't know what's been done.

Okay, so you have fatigable weakness. You have ptosis and double vision. The ptosis gets better with rest, cold, Tensilon and Mestinon. Right? Any other odd symptoms that would help us? It would seem highly logical and probable that you have some kind of acetylcholine issue. Did you know that they can test for the amount of acetylcholine in your system? No, they probably didn't mention that. And it would seem that LEMS and CMS would actually need to be ruled out by doing those tests, which include the CMS blood tests and LEMS blood tests. You would think that a standard muscle biopsy would be in order. ALL of the books I've read say that MG/CMS cannot be completely ruled out, when there is clinical evidence of those diseases, until they do a biopsy and blood tests.

Have they done an MRI with contrast? That would probably rule out anything with the central nervous system, brain circulation, brain tumors, etc. as a cause of the above.

I believe they've checked your thyroid. Have they checked your cortisol? Have they checked a comprehensive chemistry panel, which would include electrolytes, liver and kidney function, etc.?

One of the things that struck me when I read your website is that your BP was so low. Was it dehydration, since it went up after you had water? Or something else?

Have they checked your B12 level? Celiac disease antibodies?

Have they looked at your stools? I know, gross. But parasites, etc. can cause problems. Have you seen an infectious disease doctor about possible lymes or other infections?

You have had major surgery of your GI tract, correct? Well, if the vagus nerve was damaged in any way, chances are you could have a loss of acetylcholine from that. Acetylcholine is "produced" there.

This may be farfetched but I had to think of all ideas. Isn't there someone, anyone, in your country that would be sympathetic to your plight and take your situation to the media? Are there any celebrities who are into health issues/not into the NHS? Branson is a little wild but you never know until you ask someone. They can always say no but what if they say yes? When I tried to raise money for a non-profit, I found that most businesses like to give back and that hardly anyone actually "asks" them for help.

http://www.virgin.com/richard-branson/

Have you had a sleep study? What if you have central sleep apnea, which would implicate CNS/brain stem issues?

When you have time, it might help you too to list all of your symptoms and when they began. On a separate piece of paper (or computer page), list all of the tests and results you've had, including things like breathing tests.

There IS an answer here, Rach. I'm much more hopeful about that than I am about your some of your doctors. I think the worst part about this, other than you suffering, is that they think they have done something great by ruling something out (if indeed it's ruled out). They haven't done anything to figure it out and rule something in!!!

Anyone else have any ideas? You guys are pretty brilliant. Rach really needs as much help as we can give her right now. Thanks.

Annie

Thank you so much for starting this thread for me. I really appreciate it.

I'm feeling a bit better today so I can think a bit more clearly and give you some more info all of which the Drs have been given.

Jan 2007 (approx 5th) Horrific migraine. Slurred speech, weakness down left side. All totally normal for me with a migraine. Ive had these since I was ten. As I get older they are disappearing. Last one was Jan 2009.

Jan 6th-11th facial numbeness and tingling like a dentists injection wearing off. Feeling pretty lousey but still working. Jan 11th eyebrow drops as does eye. Diagnosed with Bells Palsy given steroids, does nothing. Have awful pain in forehead where muscles are pulling due to eyebrow droop.

Try to continue working but neck is weak and resting on top of my back. Odd episodes of breathing feeling difficult. Arms and legs becoming weak.

have 2 MRI's both without contrast both revealing nothing.

Before all this time had problems with hands going numb put it down to carpel tunnel syndrome. Wasn't apinful just pins and needles so didn't see a Dr.

Also from 2006 started having really bad night sweats. All over not confined to one area. Now know if I have bad night sweats Im in for a bad day. Sweats are so bad sheets and blankets are wet. Only sweat like this when I'm asleep. So it happens even if I have a nap during the day. Hormones were tested no issues.

Also 2006 lost large patch of pubic hair - Dr checked it out when I was having a pap smear done. No idea what caused it.

2007 -June /July thyroid tests done, FBC and CBC , Liver, Kidney tested all fine. Cholesterol 7.2 - nothings ever been done about that. Glucose fasting blood test done think it was 4.1/4.2

late 2007 sleeping 12 hours a night and sleeping on my two days off. Finding it difficult to concentrate. Staff are telling me that my voice is sounding nasal and sometimes when I go to speak no voice is coming out.

August 2007 do ice pack test eye is open for the first time in 8 months.

Sept 2007 given neostigmine 15mg to try first tablet opens my eye after 20mins effects last about 4 hours. Really don't get on with that so try mestinon.

Vision inceasingly distorted, stationary objects appear like they are moving. Nodepth perception and double vision.

June 2008 end up in hospital as I can barely walk. iven steroids walking by day 4 of steroids.

July 2008 start going down hill again spending a lot of time in bed.

Blood tests for MG been done about 4 times at this point all come back negative. SFEMG done Aug 2008 negative.

See Oxford Oct 2008, tell me I don't have MG I'm stressed and I have ME. Told to come off steroids. As I come off steroids more symptoms appear, issues swallowing, choking and vision gets worse. Breathing becomes an issue. Taken to hospital Jan 2009 as O2 sats at 92%.

Now have issues with feet going numb.

Very recently having problems with an area of my left hip going numb. Basically where your knickers sit. Know its numb as have dragged a pen over the surface and can't feel it.

At present have a gland in groin swollen about the size of a quails egg. Keeping an eye on it.

After coming off steroids developed a very itchy rash, red discs, that flake in the middle. Mainly on trunk and arms. A few on buttocks and thighs. Been told its discoid eczema. Goes with cortisone but leaves a scar.

As for the BP wasn't dehydrated as had drunk through the night and the morning. I hadn't had anything when BP raised half an hour later as they hadn't got me any water at that point.

The only other thing I can add is heart rate. Can swing from 47bpm at rest then the slightest exertion eg sitting up it can go to 130bpm.

Also get bilateral ptosis especially in bright sunlight.

And if you didn't think I was a hypochondriac before you do now.

Nope, Rach, don't think you're a hypochondriac at all! I think you're brave, smart and funny and have put up with more than most can handle.

Okay, so they "thought" it was Bell's Palsy. What if it was Guillain-Barre? Of course, steroids don't help GB but the do BP. Love all the abbrev. in medicine!

What about the metanephrine hormones? Did they check those? Did they look for a pheo? Of course, then your BP would be high.

Did they redo the cortisol, fasting and in the morning?

If you have a tumor of any kind, they can sometimes spit off hormones and be hard to test for. You should get that lump looked at immediately.

Are they absolutely certain you don't have a hole in your heart (due to the migraines, drop in O2 saturation)? My cardio said the only way to be absolutely certain is by doing a transesophageal echo or contrast cardiac MRI. She wanted to do those for me to verify whether I had a PFO or ASD. Won't do the gadolinium though.

Do you have any nodules around your neck area? Have they checked your thyroid antibodies? The hair loss is odd. I wonder about hormones or nerve damage. Things can't "grow" or live without a nerve signal.

I wonder about your kidney infections and how that might relate. Is there a stenosis somewhere in the arteries down there?

I have to wonder about a brainstem issue. Can you get your actual MRI's? Do you have the rest of your records? Or do they make you pay through then nose to get them?

The thing is, doctors will sometimes not tell patients everything.

I wish doctoring involved a "team" of doctors, sitting in a room TOGETHER working on patients who are not diagnosed. I can take a stab at things, as can everyone else here, but you need a doctor who is absolutely committed to getting you answers no matter what.

I hate that you are going through so much. Maybe what you've written will spark an idea with someone. Thank you so much for being so honest and thorough when you are feeling so subhuman. Keep fighting the good fight.

Annie

One more thought. Do you have any signs of arthritis or inflammatory disease? Lupus popped into my head as a possibility. CNS lupus, specifically.

Rach, have you been checked for sarcoidosis? The loss of hair rang a bell. I worked with a teacher who suddenly lost a patch of hair (although hers was on her head). She had breathing, heart, BP, lymph node swelling, and visual problems. It took AGES for them to figure out what was wrong with her. Steroids would mask her symptoms somewhat, too.

http://www.stopsarcoidosis.org/sarcoidosis/symptoms.htm

Hi Rachel,

I'm so sorry that again you are at step 1.

So even if you *don't* have MG (Which I'm sure you do), they are supposed to figure out what's causing your sx. You can't imagine a swollen groin lymph node. Your blood tests and electrical tests may be negative, but your sx are postive.

Did you ever mention those ryanodine antibodies to the doc., btw? It's a far stretch, and i'm unsure about it, but I've read about seronegative MGers having them. Musk-positive people have them, and they have no thymus problems, so it doesn't seem too 'out there' for achr-negative person, who also has no thymus problems, to have them too...

I'm worried about the swollen lymph node. Does it hurt? It's only the one? Maybe you can be referred to an oncologist. I don't know what all the symptoms of lymphoma are, but I know that night sweats, and swollen, painless lymph nodes are some (especially when they are asymmetrical). That tends to have paraneoplastic diseases too (like MG). I'm not trying to freak you out, but by this time, I'm sure you want any answer, as long as it's correct! The sx you're going through sound much more painful than whatever the diagnosis might be.

If the node hurts, along with the sweating, and the old bell's palsy diagnosis, maybe you do have system-wide infection, like viral...I've heard about people diagnosed with ME having traces of herpes virus in their spinal fluid. Herpes viral infections of the brain can cause migraines, night sweats, vision problems, muscular problems, etc...

Something's going on- no doubt about it...If they do think you have ME, then they can at least test you for viruses. I've heard of people doing well on meds. like acyclovir/valtrex. Even people with other autoimmune diseases have kept their sx at bay with these meds. because having constant herpes outbreaks (and not just the ones that cause sores, like hsv1, 2 and the one that causes shingles, but also hsv6, and a bunch of other ones) keeps the immune system 'on guard,' and so all the other antibodies that attack self are on high alert too..

Anyway, this must be so tough on you- but don't let it beat you...As others said, the squeaky wheel gets the grease. Be loud!

nicky

I'm going to try and answer your questions as best I can. Please if I miss something out remind me!

I have my MRI scans as I paid for one of those which is the most detailed scan. I forgot to say that I have also had CAT scans of my head and Thymus. All ok.

Cortisol- hasn't been tested.

Lymph node- Ive had one come up onmy neck hang around for a few weeks and then disappear. The one in my groin, makes my leg ache a little, reminds me of when I had Mono. No other nodes are up as far as I am aware. Ive been on the internet and had a look at what it could be because I have so much time on my hands! LOL. The advice there was to watch for 4 weeks, apply heat etc. If it gets bigger I will see a Dr. At the moment I am watching and waiting. There are lots of things it could be, but as it came up very rapidly its more likely to be an infection than something really nasty.

LP- had one done and they checked it for everything.

Annie I have absolutely no idea about those hormones you mentioned! Never heard of them, but hey I'd never heard of MG either!

ME- My sister has it, ME gives you leisons on the brain stem and there is actually a protocol set down by the world health organisation of tests you should complete before giving this diagnosis. Unfortunately many Dr's seem to think they know better. (haven't I heard that before somewhere?). Yep and you are right ME patients do have traces of viruses in their blood. They also have hearts that work at 50% capacity. That's why ME can be fatal, another fact covered up by the medical profession (some of them realised thats a sweeping statement and unfair to the good ones out there).

Sarcoidoisis - heard about it on HOUSE! god I wish he was my Dr! I will take a look tomorrow. With the time difference I'm going to bed once Ive done this post!

Heart has never been tested other than your basic ECG.

I have my records but only the bits I am allowed to see. Under UK law a Dr can withold all or part of your notes if they believe the information contained within them could cause you harm. I'm not joking this is the law. It cost me £10 to get them and my local consultant has witheld all his notes!

I have had an MRI with contrast as well and that showed nothing as far as I know.

My concern is theres more than one thing going on.

I do have joint pain, I always have had pain in my knees ankles and hips. Always told it was growing pains, Im 5ft 9in and haven't grown since I was 14! Ive been tested for arthritis but nothing. I do have one leg longer than the other and have put the pain down to that. The joints are never hot or swollen.

Had an ANA test and that's negative.

Forgot to mention Dry eyes, which I had a couple of years before I got ill.

Checked B12 thats ok. Checked coeliac, but everytime Ive been tested Ive actually been wheat free. Had a colonoscopy around 1999-2001 time I had inflammation in my bowel, but it was within normal limits. I have a hiatus hernia around 4cm - had an endoscopy in 2002.

Forgot to mention the Ryanodine antibodies. Probably because I felt like I was going to collapse at the time. Sorry!

Thats all I can think of at the moment and I want to go to bed! So night night and thank you!

Love
Rach

Nice catch, Jana!!! You might have figured it out. Go boffins.

Thanks for the input, Nicky. Rach needs all the help we can give her. Ally too, for that matter.

http://emedicine.medscape.com/article/1229262-overview

I feel stupid. My Uncle died of sarcoidosis, while I was in the hospital during my crisis, and I knew about this from lupus patients too.

That article is very good, Rach. See what you think.

I think the interesting thing is that you were given steroids and you got better. Steroids do help sarcoidosis but they also help MG. Not CMS though. Steroids help Bell's Palsy. But maybe it wasn't Bell's but sarcoidosis. Dry eyes can be caused by sarcoid but also by MG due to the lack of acetylcholine.

I cannot believe they haven't tested your heart with such low oxygenation. An echocardiogram and chest CT are often done to rule conditions in or out when someone needs oxygen!!

They can withhold records here too but ONLY if it means you are of imminent harm to yourself or others. As in a psychological problem or if you are suicidal or something like that. They cannot withhold records here "just because." Like one of my past neuros did. And especially not when they are withholding evidence of any condition or disease.

If you don't get enough oxygen to your extremities, they can feel weak or numb. I am now wondering about your low BP. I wish I could swear right now.

And it makes what happened with your GI tract make sense too (sarcoid).

If you can get your hands on the chest CT, that would help. Not very many doctors know about sarcoid or understand it. It usually does involve Pred. And oxygen.

At your young age, to be on oxygen, is not normal. That alone should've kicked these doctors into high gear. They haven't even gotten out of neutral. I have my doubts that they even have keys to the doctor car.


Annie

I am so mad I could spit. So let me get this straight: you can't walk, your eyelids are falling down, you can't breathe, you need supplemental oxygen, horrific things are happening to you, you can't get any medical support, you have been physically devastated yet you've managed to survive all this *but* if you read your doctor's notes you're going to go into a swoon and kill yourself?!?

That is just a bunch of paternalistic baloney. Probably you should also know: if you exercise your uterus will fall out. Huh!

I would like to see how many women versus men are denied access to their own records. It's probably a huge difference. Also: it must be nice to be in a profession where you can cover your little behind whenever you like.

Let me give you just one example of what I've found when I've gone back and looked at my records. My last bloodwork showed that I had elevated alt and ast which are liver enzymes. Turns out they can also be released by muscles and can indicate muscle problems and are two indications of the disease I think I may have. The third is an elevated ck level. Which was also high on the same bloodwork. Good thing I was informed of that, right? Nope. I had a dozen doctors walk through my hospital room and tell me that all my tests came back normal. It wasn't until two months later when I received my medical records that I saw the results.

Okay, to get back to you. Wow, you have a lot of strange symptoms! Just like me (but different) they seem totally unrelated and bizarre. No offense! I think people here have given you some great ideas. I know I mentioned some of this to you in the email I sent you, but all of those systemic problems make me wonder about metabolic disorders. There are so many of them. And since they affect every cell they can cause some funny systemic glitches that seem totally unrelated. Maybe some of them *might* ring a bell to you. The good news is that some of these diseases can be controlled with diet, or at least helped so it would be worth it to at least take a look. Here is a link to an overview of the diseases:

http://www.nlm.nih.gov/medlineplus/m...disorders.html

It's hard to believe that with all your muscle weakness nobody has thought about getting a muscle biopsy done. That is what you would need to get these checked out. There are two types: fresh and frozen (gross, I know). Fresh is best because it's more accurate and more tests can be done on the biopsy but even in the US there are only 2 or 3 places that can do that.

I've looked into this a lot because I've thought in the past that I might have a mitochondrial problem. Who knows, maybe I do. I arranged to have a biopsy done and then backed out because the guy who does it here is an idiot (insisted that mg isn't in any way related to the thymus, etc, etc) and the woman at the university metabolic clinic told me that they don't accept any of his patients because he makes too many mistakes. I'm going to talk to the new neuro about it though. Anyway, in the US the best doc for this is Dr. Cohen at the Cleveland Institue. However, I was getting messages from two mitochondrial yahoo groups for several months and there were a few people who were from the UK. I went back and searched for information for you. Apparently there are 3 centres which can do the muscle biopsies and diagnose these types of illnesses. Here is a link to the website:

http://www.mitochondrialncg.nhs.uk/

In particular, there is a doctor, Dr. Hanna, whose name comes up again and again as a very compassionate doctor who was able to help a lot of people who had been searching for an answer for years and years.

What I am thinking (hoping) is this: wouldn't it be nice if you could get a referral? Even if this turns out to not be your problem, you could at least talk to a doctor who is used to seeing unexplainable cases and maybe he'd have some great ideas and be able to send you to other docs who would take you seriously. By the way, one person mentioned that they just emailed doctor Hanna and was able to get an appointment with someone on his team.

If you want to look into this yourself, the message group on yahoo is called mitoldies. You have to register and then be given permission to look at the messages which I think takes a couple of days. If you then enter "London" into the search box you will find messages from people in your same situation: Living in England and told there was no answer and to deal with it. Maybe you could start posting messages there and get some help and ideas. In the meantime, I will send you the most informative post. I don't want to post it here because the group is private.

I don't know if this will help you, but it's worth throwing out there. Please. just keep fighting, don't give up. And remember - we're all in your corner!


Ally

if you ever decide to fly over the pond and give the docs over here a try, fly into Kennedy, Ill pick you up and take you wherever as long as its New York.

I forgot to say that if you look at the UK site I posted above, and then click under contacts you will find phone numbers and emails for all of the doctors, nurses and secretaries at all three centres. Very nice!

Ally