To Xanadu
 

I wanted to start a post for you, since you are not having a good time right now.

Do the doctors in Australia realize that the majority of inhabitants came from England years ago?!!!! Just like in America, we all came from elsewhere except Native Americans. Oy. And England and other European countries have one of the highest rates of congenital myasthenic syndrome?

Funny thing about CMS too; some people don't test positive on the EMG's, that's why they go to the genetic blood tests or muscle biopsies right away. And that is what a CMS expert has said about it.

Are you on any medications that might've altered the results? And people with mitochondrial problems may not have a positive EMG. Damn. There are a LOT of neuromuscular diseases out there, and weird stuff like glycogen storage diseases, that cause weakness. I am thinking your neuro is out of his league.

So what can we do to help?

Maybe if you seek out a 2nd opinion, somewhere else, without saying what you've had done before. I don't know, this is a dicey area with doctors. They can often badmouth you to other doctors if they know you are going somewhere else. Been there, done that.

When doctors go directly to the "must be in her head" BS, I go nuts. Do they really think all women are hysterical? I heard a doctor say on TV this week that WAY back when (like yesterday), doctors thought a woman's uterus or "hyst" would move around their body and that would create whatever symptom they are having. I guess yours has migrated to your muscles. :eek: Hyst is the root of the word hysteria. I wonder, she said rhetorically, what the root of the word assuming is, as in a doctor who makes incorrect assumptions.

Most patients do not want to be sick. And it is dangerous to so quickly classify someone as having a psychological problem instead of a real one. You are the one who suffers.

:hug:
Annie

Almost forgot, do you have ptosis/droopy eyelids? Have you tried taking photos of your face? Doctors find it hard to argue - even though they do anyway - with that kind of evidence. And seeing a neuro-ophthalmologist is a good idea too. And having pulmonary function tests done if you are short of breath. Stock up on that evidence!!!!

Thanks Annie for your kind words and thoughts. I am very tired today so hope I can answer OK. I feel very weak. Stress as you know is a killer.

To answer some questions...yes I am on cortisone. It is not Prednislone but hydrocortisone and equiv to about 5mg of Prednisolone. But it works differently ...ie faster peaks and faster lows... ups and downs all day.... My GP did this much for me as I was collapsing but as the Neuro did not see it - it did not happen :eek:

The last Endo I saw said the cortisone I take would affect the EMG. The Neuro said it would not. But he is not familiar with hydrocortisone and only uses Prednisolone.

The day I had the EMG - I was 'crashing' and took extra so in effect had equiv to a massive 10mg Prednislone just before the test. That is 10mg in the bloodstream within 15 minutes and peaking high ...not spread out over 24 hours... do you see what I mean ? I am sure it matters... and the Endo said it did.

Yes I have slight ptosis but it is hard to photograph. I have had lung function tests which show significient lung weakness which is not asthma. I have had sleep apnoea tests which show significicent REM sleep only apnoeas. I have read and researched and found this is a neuro muscular or pyche problem...

Guess what my Neuro does ? Ignores all this.

I have heard my respiratory dr say MG under his breath but he will not write it down. I have heard the Opticians and dentists all say it - but they will not diagnose it. I own 4 pairs of glasses to help me see. I have had myopia for decades and trust me - I know when my eye prescription needs changing or the optician has not done a good job. For 3 years now I have battled to get my vision and it is not working.

For some reasons - the Neuros here do not understand the rarer types of MG. They expect to see the classical MG. If it is not classical and textbook - it is not there. How unscientific is that ?

My only hope at this stage is genetic testing. I am about to see if my GP can refer me for that and to the same Dr as my second cousin. Failing that - there is no hope really until I get worse.

One thing that is annoying me is that now I am less active and fixed to a recliner ... I am gaining weight. Now of course the Drs are saying it is my excess weight causing all my symptoms and I have to get out and exercise more ...:rolleyes:

Thanks :hug:... very tired and sad today... I have read so many posts and people mentioning symptoms and I have so many that I just assumed were normal as I have had them all of my life... and I have learned to live with them. Like holding the phone and styling my hair, and holding the steering wheel... things that I had never thought about before...but everytime I read them it is like a 'me too' moment. But no neuro believes me....

Steroids are steroids are steroids!!!!! That's not directed at you but your doctors.

Well, I am on Flovent which is an inhaled steroid and it goes systemic in the body. As does what you are on. Anything that suppresses the immune system can make someone with MG have a normal EMG.

And some steroids may be faster acting but the "effect" of the drug on the immune system is something that lasts much longer. This neuro should know that - shame on him.

MG and CMS are two different things. There is no genetic blood test for MG, only CMS. MG is an autoimmune process. CMS is caused by a genetic defect.

It gets confusing because there are genes that can cause MG but they don't have "tests" for them. They have HLA typing, which can show the possibility of having a disease. It's complicated!!!

An eye doctor is not the same as a neuro-ophthalmologist. You need the "NO" to help you figure out if you have fatigable weakness. Sometimes they do the Tensilon test.

You want to know why no one will come out and say "MG?" Because if your neuro screwed up, and someone else said that you have it, he can get sued. Sometimes it actually helps to say, I don't want to sue anyone, I just want some help and to feel better.

You need help. Get someone, anyone, who can pull all this together and make an intelligent conclusion based on SCIENTIFIC EVIDENCE of what to do next.

I'm sorry there are so many medical "professionals" out there who can't seem to help patients, especially with this disease. I hope you get some help soon.

Annie

to xanadu
 

there is a fairly recently diagnosed entity of CMS called DOK7.

a lot of what you are describing in yourself and your family could possibly fit that.

try looking it up.

I am not sure that this is going to be the correct answer, as there are so many different proteins in the NMJ and down stream of it, that they don't know much about, and could theoritically be involved, but its worth a try.


the fact that your SFMEG is normal also suggests an abnormality of a protein that is down-stream of the receptor.

also, your response to steroids could be due to a direct effect on the muscle itself, and that is possibly why you respond to relatively low doses.

alice

Thanks Alice, I did look up DOK7 and without trying to be too hypochondrial ...there are many similarities. I don't know if I have mentioned but my aunties had a strange walk.. This is ,in part , is part of my 'hysteria' to be diagnosed and 'helped' by a Dr NOW ... to try and prevent this...as I saw my auntie and how the weakness affected her. Her walk was one feature that was puzzling to all. I am not sure I would call it a waddling gait as the DOK7 sites mention though - so perhaps it is not this. I would call it more a robotic jerky style gait - which fluctuated and improved with rest etc etc, And I am not sure she had breathing problems like me - but I do know she slept sitting up - which I am also tending to do now a little - so maybe ...

So much of the information I have is just memories and impressions and family gossip and it is not terribly scientific I am afraid. :(

Without an experienced Dr that is prepared to listen and test theories - I will never know. I cannot even seem to get past the first stage at the moment. I have not had a SFMEG done only the EMG. The MG Clinic in Sydney sent me home to my local city - saying they did not think I had MG ( but he said he could be wrong) and that 'surely' someone back home could do the SFMEG. That was 14 months ago and so far ..no one will.

At this last appt I had been resting in the waiting room for over an hour as Dr was running late - he did 3 simple strength exercises ( 3 repetitions) and declared he could not see a problem. :mad:


Thanks everyone! ... I have some clues now to solve this mystery :grouphug:

Otherwise known as Limb-Girdle (DOK7). Ask your primary doctor to test your creatine phosphokinase (CPK) to see if it is elevated. Make sure you walk around before the test. It's a simple blood test.

And some of the CMS take longer to fatigue and are more severe when they do fatigue, so 3 repetitions are not going to fatigue a person with it.

Thanks, Alice.

I am so very sorry that there isn't a doctor taking your situation seriously. Again, gather all the evidence together. Type it up on one page. It's amazing how seriously doctors will take you if something is written up and in an organized fashion.

And take some photos too.

I hope someone will help you soon.

Annie

I can understand how you feel, when they make you appear as if you are trying to convince them that you are ill. at some point you do start to look like a hypochondriac, who is over obsessed by her minor and unimportant medical problems.

a few years ago, one of my well-intentioned colleagues said to me, that all I need to do is stop thinking about my illness so much. I asked him- is this what you say to your leukemia patients as well?

this is a catch-22 situation. you can't be your own doc and read on your own and reach conclussions, because then you are a hypochondriac. but, then no one in the world is going to do it for you, either.

my current neuro was the only one that could say to me- I am learning from you. the only one that was not intimated by the fact that I am a physician, with quite a lot of knowledge and understanding. the only one that said- if you have searched the literature and think that this could be of benefit, then I am with you. the only one that didn't suggest I seek psychiatric advice when I "dared" to say what I think, or mention a paper that he himself didn't read. the only one that honestly admitted that manging my illness is like sailng an uncharted sea, and that it is OK if we try to find the best way together.

all the rest were not able to accept the fact that I know something that they don't. all the rest were mostly busy with their own ego trips.

more then 10 years ago, when I was a medical resident in philadelphia, I was very unhappy with the managment of one of the patients. I thought that the treatment he was getting was not correct and clearly said what I think.
the next day I was called to the office of the head of the dept. he asked me to sit down and I could see it was not something pleasant that he was going to say to me. he said to me- look, the problem I have with you is that you are very bright and what you say can't be ignored, so I can't just kick you out of the program. and right after that, he reluctantly changed the patient's mangment according to what I said.

it is one thing to be treated like that as a healthy physician, for being your patient's advocate ( it did not make me change my ways, just learned to be more diplomatic about it, when possible), and being treated like that as a patient, who desperately needs proper treatment and support, and is fighting for her own life.
almost all of them treated me just like that head of the dept.-
learning from me, improving their patient's managment based on what I said, and giving me the feeling that they would really love to kick me out, and get me as far away from their sight as is possible.

the only one that ever said- I am sorry, for the serious mistakes, for trusting your physicians more then trusting you, for not understanding how severely ill you are, was my father, and to some extent my husband and my rehab. physician.


so I really do understand how you feel, but don't let that stop you from finding the right answers and recieving proper care.

alice

Dok7
 

sorry, I got carried away in my previous post.

let me tell you why I thought about DOK7.

first, it is not the waddling gait that is specific (this can happen in any weakness of the hips), but the tendency to point the feet inside.

second, the weakness and fatigubility are not the typical myasthenic, when it becomes more severe at the end of the day, but varies over weeks, and you seem to have very good weeks, in which you are almost normal and very bad ones.

third, the neurological examination does not show the classical fatiguability seen in patients with myasthenia.

fourth, there can be a large variability among family memebers in the way they are affected (although this is true for other types of CMS as well).

fifth, in many patients there is a progressive course, and it is not rare to have significant respiratory muscle involvement requiring nocturnal respiratory support, with time.

sixth, this is a fairly recently described entity, and they are learning more and more about it, and realizing the huge variability, and it is very likely that an average neurologist has no knowledge and understanding of it, and would not even consider it as a possibility. and as the clinical features are very atypical for myasthenia would "rule out" this possibility.

I hope this can help you in some way.

alice

This is all very interesting.

Alice - you may be interested to know I am pigeon toed, and have memories of my brothers and school mates laughing at the way I walked from about 10. Not just the walk but the lack of arm swing as well. I guess it looked different - don't know now - kids can be cruelly honest! My calf bones actually curve - no one else in the family has this - but I have long forgotten about it. Could this mean the muscle weakness was there before the bones had grown strong ?

And I seem to be remembering another uncle that had swallowing problems and another great aunt ? Nothing serious ever found but very problematic for them. May mean nothing of course but they are siblings to the ones with severe general muscle weakness.

And I also found that a treatment for DOK7 is salbutamol. Interestingly enough I have been prescribed this on and off for the last 10 years to help my breathing episodes. The pattern of asthma I had was odd but the GPs kept using it. I did not have asthma as a child and was told it is very unusual to develop it as an adult - but non the less that was my 'diagnosis' until last year. Last year I had tests which confirmed the poor lung function but was told it was not asthma and to stop the puffer. Hard to know really ( trying to stay neutral here) but I think I have worsened in the last year.

Yes I can see this is would need a specialist working with the new discoveries. But why does a Neuro who is obviously out of his field try to intimidate and ridicule me ? Why not say - this is atypical, I do not know - let me think about this and make some calls ... :(

salbutemol via inhaler can increase the diaphragmatic muscle stregth.

it may not be as effective as taking pills, but will still have an effect.

its mode of action is probably by increasing the calcium induced calcium release, brought about by the depolarization of the muscle membrane (which is in turn caused by activation of the recpeptor with acetyl-choline).

an inexperienced pulmonologist can easily mistake respiratory muscle weakness, for asthma, as both can lead to a decrease in the peak flow.

as to your question about the neurologist, all I can say is a quote of william Osler- the more the ignorance, the more the arrogance.
you need a certain amount of knowledge and understanding in order to know that you don't know.

hope you do find one that does, just like I eventually did, soon.

alice

Hi Xanadu....My mom is pigeon toed too and was traumatized by people making fun of her when she was little as well...She has extremey tiny feet and she can't move any of her toes individually either...I don't know if that's normal for some people, but I can move all of my toes...

Not sure what this all means, but wanted you to know that I can relate sorta.

:hug:
Nicky

Thanks Nicky, There is so much about this disease that we have to carry with us. The lack of understanding and cruel taunts are something I just grew up with - never realising that there may be a reason. My Grade 1 teacher called me a special child and I believe we are all special - for the way we cope and continue and carry on with this invisible 'foe' with us.

Would you believe that Day 3 into using salbutamol inhalors and I feel a little better ? I have more energy and deep refreshing sleep and am waking up like a new person each day. I have no idea if this is a placebo effect or a sign of CMS but I don't care ! :D For years Drs have put me on and off salbutamol and I am only starting to wonder if this actually MEANS something :rolleyes:

Now to the next stage ... finding some Dr that believes in me enough to order a genetic test...

glad that you are feeling better, what ever the reason is...

what you need to find is a Dr. that believe in you enough...

the genetic testing may or may not be fruitful, as even when there is clear evidence for CMS, they are not always able to find the gene responsible for it.

but you doctor, should be ready to be your partner and try to find the best managment options, even if he/she doesn't have "objective" evidence. trust you and what you tell him, more then his books. think about you and not about how to best cover his *****.

hope you find one soon...

alice

I feel really well !! The best I have felt in years and years!! I cannot believe that a simple puffer can do this! But it is - I am sure. I can even feel when it wears off a little. Could many of my symptoms have been CO2 ?

The most amazing change has been my sleep. I SLEEP and wake refreshed. Even my 30yo headache is starting to change. It is so important to have quality sleep but why did my Specialists not help me even when the tests showed the problem ?

I have a great Dr. But she is 'only' a GP and sneered at by the Specialists. She can only do so much. Can she order an expensive genetic test ? I do not know. The system can be so frustrating at times. I have a Dr that cares and knows so much more but may not be able to help me due to political correctness....

But meanwhile ... there has been a miracle !!!! :grouphug:

Would you believe another relative had the wobbley leg syndrome ? My family were talking about great aunt today. She died 30 years ago and versions of the story varied but it seems she got 'wobbley legs' and 'walked funny' when she was about 40 or 50 and was in a nursing home by about 60. I have to check more and try and find out more details... but she was a sister to my maternal grandma.

Xanadu,

I'm so glad you finally got some relief and you're feeling better. Keep working at it and in time you'll get some answers and the proper treatment. I'll be keeping good thoughts. Take care.;)

Hugs,
Pat

Your primary doctor can order breathing tests and an arterial blood gas. That's a start. She can refer you on to a neuro-ophthalmologist who can assess your eyes and their muscles.

Gather evidence. Take photos. Pull it all together to show a clinical picture. Then get someone, anyone, to help you!!

Annie

Have had the breathing tests. They show a problem but no one takes any notice of that. I can go back to that Dr again. My eyes are not really a problem - its only slight there. I don't think my State has a NO. Once again its all about the travel and expense. Hoping to get some genetic tests done re CMS when I see GP next but am not sure if she can order those or not. Or if the tests are done in Australia even. If Neuro can't or won't order the CMS gene tests - who will /can ? There is a genetics dr that my second cousin went to - would that be the person I need to see ? Would he get upset if GP writes a referral telling him to test for CMS ? Won't he wonder why the Neuro has not written the referral ? I get confused by all the paperwork procedures and how to be pc to Drs.