[Imatthebeach]

I am now 50 and finally diagnosed last year with Congenital Myasthenia Gravis. I am finding everyones input so helpful. I do not meet much criteria test wise (only the nerve muscle conduction), ha, but my body doesn't really care, it still has the symptoms anyway. I have been in trouble for symptoms since I was a child. I am finally not in trouble, whew.
I have alot of questions and look forward to learning from all of you thruout this site.

[suev]

Welcome! This is a great place to meet folks with MG and to share info about it.

[alice md]

What type of CMS do you have, and what treatment are you getting for it?

why was it diagnosed just now, if you were having symptoms and EMGs for many years. ( or did I get it wrong?).

alice

[Imatthebeach]

Originally Posted by alice md

What type of CMS do you have, and what treatment are you getting for it?

why was it diagnosed just now, if you were having symptoms and EMGs for many years. ( or did I get it wrong?).

alice

I have had symptoms since birth (orphanage til 6mo). It hit very hard when I was 25. I come up neg in the blood tests, so I was told it was psychogenic/conversion. Once that is in your records...............
I would try about every 3-5 yrs to dare get help. Finally I demanded to be diagnosed psychogenic/conversion by a real psychiatrist. The psychiatrist was impressed with the work I have done (massive counselling) , diagnosed no Psy/conv and was so concerned with my symptoms referred me to Wa Univ Med center. They also ruled out mental, leaned toward MG but no diagnoses was given.
I went back to a neurologist who had worked with me years back (he had temp quit his practice for health reasons). He had given me the nerve muscle cond test which was positive. That is the only criteria I meet besides many symptoms. He diagnosed me CMG. I had not realized there were different, forms?, I have no idea. The mestinon did not do anything. He said he felt mine was not treatable and said we would treat the symptoms as we go. He sent in therapists. I am amazed at how many things I had not realized were symptoms! Even chewing! Oh, I would get in so much trouble as a kid with the not being able to chew! Oh my.
My neurologist sadly has quit his practice again so I will have to go back to the Wa Univ Med. I will ask more. I had not asked my Dr anything, to be honest. My daught and I did not even breathe til we were out of the office and were in shock I was given any diagnoses!
There is, of course alot more to it all, but that is the 'short' reason it took so long. It affects all my muscles. The psychiatrist gave me my dignity back. I really appreciat her and will share some of her advice some time.

[alice md]

First, I am so glad that you were finally given a proper diagnosis.

Second, I am so sorry to hear of what you have been through.

Third, there are many types of congenital myasthenias, and some can be treated very effectively. And they are constantly finding new mutations.

If you have a diagnostic EMG (I still find it hard to believe that no one thought of doing this test before!), then you may want to try and get to Dr. Andrew Engel at Mayo clinic.

I do hope you get a more accurate diagnosis and the proper treatment you deserve (and have deserved for many years).

And keep fighting for your dignity and proper medical treatment.

You are not the only one that has to deal with this.

An excellent psychiatrist (probably similar to the one you saw) said this years ago-

"In the main the diagnosis of ‘hysteria’ applies to a disorder of the doctor–patient relationship. It is evidence of non-communication, of a mutual misunderstanding ... We are, often, unwilling to tell the full truth or to admit to ignorance ... Evasions, even untruths, on the doctor’s side are among the most powerful and frequently used methods he has for bringing about an efflorescence of ‘hysteria’... The diagnosis of ‘hysteria’ is a disguise for ignorance and a fertile source of clinical error. It is, in fact, not only a delusion but also a snare.”

Eliot Slater, ‘Diagnosis of “Hysteria”’, British Medical Journal, 29 May, 1965, p. 1399


alice

[Imatthebeach]

Originally Posted by alice md

First, I am so glad that you were finally given a proper diagnosis.

Second, I am so sorry to hear of what you have been through.

Third, there are many types of congenital myasthenias, and some can be treated very effectively. And they are constantly finding new mutations.

If you have a diagnostic EMG (I still find it hard to believe that no one thought of doing this test before!), then you may want to try and get to Dr. Andrew Engel at Mayo clinic.

I do hope you get a more accurate diagnosis and the proper treatment you deserve (and have deserved for many years).

And keep fighting for your dignity and proper medical treatment.

You are not the only one that has to deal with this.

An excellent psychiatrist (probably similar to the one you saw) said this years ago-

"In the main the diagnosis of ‘hysteria’ applies to a disorder of the doctor–patient relationship. It is evidence of non-communication, of a mutual misunderstanding ... We are, often, unwilling to tell the full truth or to admit to ignorance ... Evasions, even untruths, on the doctor’s side are among the most powerful and frequently used methods he has for bringing about an efflorescence of ‘hysteria’... The diagnosis of ‘hysteria’ is a disguise for ignorance and a fertile source of clinical error. It is, in fact, not only a delusion but also a snare.”

Eliot Slater, ‘Diagnosis of “Hysteria”’, British Medical Journal, 29 May, 1965, p. 1399


alice

I really do appreciate your reply. I see your responses and involvement with others and you are amazing! Thank you for the Dr's name at the Mayo, I will keep it in my paperwork. This neurologist wanted me to go. Had me set up with an appointment and everything, but, my disability does not cover it. Felt like my neurologist was as let down as I was. I still wish I could go.
The quote is so true. I had read while looking up the psychogenic/conversion that this is what doctors call hysteria. Interesting. They seem to cause it.

I read some of the threads of ones not diagnosed yet, oh, what a painful spot. It really wears on you. I feel so bad for them. I hope they all get their diagnoses, atleast close enough to get the help they need.

One factor that held back getting help was I was in Alaska for half of that time. My general practitioner was so encouraging. He hung in there with me thru alot of years. He always said he tought it was either MG or MD. He was seeing me when it hit so hard.

Many neurologists tested me in the past for MS. Everyone has thought I had MS. So, I get tested for MS. I do not meet the criteria and I am dismissed. 'Let me know if you get any worse' I am told. Ha! If I come back, worse, I am told it is mental.
Truely it only takes one report saying it is mental and this stops many from being willing to go any further.
I had gotten to where I only went in to the neurologist when I was doing better. That didnt go over well, but I could no longer bear being treated so awful while at my worst.
I also realized many have assumed it is my legs that make it hard for me to walk. But actually it is more my hips. I clarify this now and insist the physical therapist reports are actually read and considered!

The psychiatrist I had seen answered alot of my questions and her response to why all the overboard diagnosing of conversion/psychogenic, etc, made alot of sense. My friends kept telling me it must be my insurance, I did not agree. She said the doctors have a reputaion. Alot of their reputation is their percentage of diagnoses. They want to maintain a high ratio, 98/99%. If you are not text book and will take time, this will lower their diagnoses ratio. So...they throw out the easy 'mental' diagnoses. Voila', they maintain their high ratio, sadly the patient suffers. Sure explained alot to me and helped me look at them different.

Anyway, thank you for your response. I am so glad your friends and you are on here. All of you are obv very intelligent, caring and full of useful information.

[AnnieB3]

Hi, Iamatthebeach. Do you have a more informal name we could call you?

I would like to be at the beach too.

The important thing is to make absolutely sure what you do have. Has the acetylcholine receptor antibody test (binding and modulating antibodies) been done lately? What about the MuSK antibody test?

There is autoimmune myasthenia gravis, which you can get at any age. Saying "congenital" myasthenia gravis sort of confuses the issue. That would simply mean that you have had autoimmune myasthenia gravis, aka MG, since birth or shortly thereafter. It might be better to say that you've had MG since birth, if that's what you have. Doctors don't say CMG. It's either MG or CMS.

Then there are the congenital myasthenic syndromes, which are mostly since birth since they are genetic diseases and not autoimmune. That's an important distinction since the treatments would be different. Some CMS's have onset at birth or in childhood but some do have adult onset. There are over one hundred mutations, so far.

http://neuromuscular.wustl.edu/synmg.html

If you have one of the congenital myasthenic syndromes, it's essential that you find out if you have too much acetylcholine or not enough. You said that Mestinon did not work for you. What happened when you took it? If you have a sodium channel CMS, then you would have too much acetylcholine.

Dr. Engel at Mayo (Rochester, MN) does not see patients anymore. I'm not sure if I would recommend them or UC Davis. Dr. Engel is listed but, again, he is not seeing new patients or at least wasn't in 2007.

http://www.mayoclinic.org/neurology-rst/doctors.html

What EMG evidence do you have? Have they done the repetitive nerve stimulation test? A single Fiber EMG?

Breathing tests are not enough to diagnose asthma. They usually do a methylcholine challenge test. I would NOT recommend you do that until you know what is going on with you!!! The drugs they give could make your condition get worse.

Getting a 2nd opinion on your breathing is a good idea. MGers often have restrictive breathing patterns, not obstructive like with COPD. COPD can involve asthma, emphysema or chronic bronchitis.

http://www.lakesidepress.com/pulmona...athe/Secth.htm

How do your symptoms fluctuate? Do you get worse the more you do? Or do you get better the more you do? I know that second question sounds weird, especially to MGers who get worse the more they do but with LEMS and some of the CMS's, a person can get better after they do some amount of activity. If you have too much acetylcholine, you "use it up more" by doing things.

You might want to write down or type your basic symptoms. When they happen or get worse, how bad they get, etc. Seeing things in writing helps a doctor. They can read faster than hear you say things!

I hope you do get answers soon. It sounds like you have been suffering since you were young. But you probably did what I did until I got worse, which is simply "adapt" to your physical shortcomings. I didn't get diagnosed until I was 42 (now 52). I've had MG my whole life.

Keep asking questions. People here are great!

Annie

[Imatthebeach]

Originally Posted by AnnieB3

Hi, Iamatthebeach. Do you have a more informal name we could call you?

I would like to be at the beach too.

The important thing is to make absolutely sure what you do have. Has the acetylcholine receptor antibody test (binding and modulating antibodies) been done lately? What about the MuSK antibody test?

There is autoimmune myasthenia gravis, which you can get at any age. Saying "congenital" myasthenia gravis sort of confuses the issue. That would simply mean that you have had autoimmune myasthenia gravis, aka MG, since birth or shortly thereafter. It might be better to say that you've had MG since birth, if that's what you have. Doctors don't say CMG. It's either MG or CMS.

Then there are the congenital myasthenic syndromes, which are mostly since birth since they are genetic diseases and not autoimmune. That's an important distinction since the treatments would be different. Some CMS's have onset at birth or in childhood but some do have adult onset. There are over one hundred mutations, so far.

If you have one of the congenital myasthenic syndromes, it's essential that you find out if you have too much acetylcholine or not enough. You said that Mestinon did not work for you. What happened when you took it? If you have a sodium channel CMS, then you would have too much acetylcholine.

Dr. Engel at Mayo (Rochester, MN) does not see patients anymore. I'm not sure if I would recommend them or UC Davis. Dr. Engel is listed but, again, he is not seeing new patients or at least wasn't in 2007.

What EMG evidence do you have? Have they done the repetitive nerve stimulation test? A single Fiber EMG?

Breathing tests are not enough to diagnose asthma. They usually do a methylcholine challenge test. I would NOT recommend you do that until you know what is going on with you!!! The drugs they give could make your condition get worse.

Getting a 2nd opinion on your breathing is a good idea. MGers often have restrictive breathing patterns, not obstructive like with COPD. COPD can involve asthma, emphysema or chronic bronchitis.



How do your symptoms fluctuate? Do you get worse the more you do? Or do you get better the more you do? I know that second question sounds weird, especially to MGers who get worse the more they do but with LEMS and some of the CMS's, a person can get better after they do some amount of activity. If you have too much acetylcholine, you "use it up more" by doing things.

You might want to write down or type your basic symptoms. When they happen or get worse, how bad they get, etc. Seeing things in writing helps a doctor. They can read faster than hear you say things!

I hope you do get answers soon. It sounds like you have been suffering since you were young. But you probably did what I did until I got worse, which is simply "adapt" to your physical shortcomings. I didn't get diagnosed until I was 42 (now 52). I've had MG my whole life.

Keep asking questions. People here are great!

Annie

Hello Annie, I am Eileen,

I 'wish' I was at the beach! Ha!

I know my neurologst said he felt it was neurological. So, that is all i know there. did not realize there were many forms. I was so amazed to be given a diagnoses it took me a few days to recover. I regret not asking for a copy!

both antibody tests come out neg, normal. Many have done them. The Mestinon....I did not notice anything. I was really disappointed.

The EMG... I believe was the single fiber? I should not guess. I am not good at any of this medical stuff. It was done on my leg, came out positive for MG.

You said it with the breathing, it is restrictive. My diaphram, everything is alot of work, very restrictive. thank you for your input there. He was like an asthma sales man. I can not tolerate medications well at all. He had me take one breath of the Advair in the office (I did not want to). I was nodding off while talking withing minutes, hives all over that turned into huge blisters. I jsut cant take meds.

Oh, definitely worse with movement. Seems my whole body has some problem.
You worded it well, we adapt. Do whatever you have to. You definitely know! I always wondered why some things were so difficult or impossible. I started out strong! Beat all the boys.....at first. Ha.
I was adopted. My dad sent me a paper he had from the adoptoin. I was born not breathing. they had to work alot to get me breathing and then I was needing oxygen for a while as an infant.

It really is a good day when things make sense.

I will take all the advice adn questions and be ready for my next appointment.

Thanks for your input.