Got a DX

[vantec]

I saw my Neurologist on Thursday, and I had NVC and EMG tests, the last time he did those tests was 4 months ago. They came out normal (which really surprised me), but my blood work came back with a high reading of GAD-56 AutoAntibody. The normal range is 0.0-1.5 U/mL, but mine was 10.3U/mL. The doctor said I had Moersch Woltmann Syndrome or Stiff Person Syndrome. Has anyone ever heard or know anything about it? I checked the Internet, and there is a lot of conflicting information. It doesn't sound any better than ALS. The longest anyone has ever lived with this disease after being diagnosed is 17 years. There is no cure, and the treatment is with very high doses of Valium (up to 1000mg a day!), long-term intrathecal baclofen therapy, and intravenous immunoglobulin in the hospital for up to 5 days. Only 1 in 1 million people have Stiff Person Syndrome, which means that there are only about 300 people in the US with it. How could I be so lucky?

The doctor wanted me to go right to the hospital, but I told him I wanted the test done again. The reason I asked him to do the test again was because I don't have the symptoms that Stiff Person Syndrome should have. My first symptoms started June of 2006, so I would be in the early stages of the disease, but I has some of the symptoms of the late stage of the disease. There should be an abnormal EMG, but mine was normal. I don't have an exaggerated upright posture, nor do I have severe spasms, or any kind of spasms. The spasms can be so strong that a person can break their bones. I can tell you that is not going to happen to me, because I am getting less mobile, weaker, and again, I don't have spasms. I have muscle twitching, but that is not a symptom of Stiff person syndrome. I have muscle wasting, but I don't see that being a symptom. My legs are very weak and stiff, but sleep is supposed to give relief, but it never does. My voice is very nasal now, and I sometimes choke while I am eating, and drinking water, but from what I read, that might happen near the end of your life. I've read some stories by people that have Stiff person syndrome, and they are nothing like what I am going through.

Anyway, I should get the second blood tests next week, and then they are going to want me to stay at the hospital for a week. I don't know if my insurance is going to cover all these expensive treatments. I'm wondering if I should get a second opinion?

Conrad

[John1]

Conrad,

I would certainly visit an ALS clinic or neurologist for a second opinion. You don't say what province you are in (or country) but I would check out your regional ALS experts. It seems unlikely given the number of people with stiff person syndrome that your doctor has ever seen anyone with it either. Another negative EMG is good news though.

[ltr]

Hi Conrad,

I'm really sorry that you have been given a lousy dx. I have also come across stiff person syndrome in my research and have read different scenario's. Is it possible that that blood test could point to other diagnoses as well? Or maybe the syndrome comes in different forms? Because of the classes I am enrolled in, research is something I do everyday, so I will be glad to see what I can find if you would like. Let's think positive and hope for the best. Leslie

[patricia1]

I would go for a second and third opinion People make mistakes and your neuro may be one of them I had 4 dx before ALS So go i dont know where you live bur there are get neuros in pHilly and Baltimore Maryland If you need names I would surely give them to you Pat

[CindyM]

Hi Conrad - I think you should trust your instincts. You know your body better than anyone. And you have the time to research where a busy doctor with many patients may not. As for the insurance- if they won't pay for the tests then I'd appeal. Persistence is the name of the game, it seems! Good luck! Cindy

[vantec]

I really think I should get another opinion, like you all suggested. For a doctor to make a major dx of such a rare disease from just one blood test, seems to me like he hasn't tested me enough. The funny thing about getting a normal EMG, is that with Stiff Person Syndrome, the EMG should not be normal, it should show continuous muscle firing, and mine did not show that.

Leslie, you make a good point about it could be something else. There is a correlation with higher than normal GAD-56 AutoAntibody's in people with Type I diabetes, but not the high reading that I have. If you could do some research on Moersch Woltmann Syndrome, I would really appreciate it. If you could find out what the average GAD-56 AutoAntibody serum levels are with people that have Moersch Woltmann, that would be great. I'm trying to think positive, but I know my body, and I don't have the symptoms I should have. All my symptoms match up with ALS (I'm not sure which is better, ALS, or Moersch Woltmann).

Maybe someone can answer this. Why is it that it takes sometimes 4 or 5 EMGs before they can dx a person with ALS? If your muscles are so weak, there is atrophy, and twitching, why are there so many clean EMGs, and finally on the 4th or 5th one, it shows that you have ALS? A lot of people get a dx, and they can still drive a car, walk, even exercise. I can just barely walk now, and driving a car is out of the question.

Conrad

[CBowman]

Conrad,

Did they ever mention to you the possiblity of having MMN (multifocal motor neuropathy). This is also treated with IVIG.

I have weakness in my legs so much so now that I am in a wheelchair. They thought I had MMN or ALS. I am going to Mayo in two weeks to see what they have to say, but I think it will be ALS. They tried 3 rounds of IVIG and the first two showed some improvement and the last one did not. My nero doctor told me on 2/15/07 he thinks its ALS and I should go to Mayo to be sure. If you look up MMN it has a lot of your symptoms and a lot of symptoms of ALS.

By the way, the IVIG can be administered from a home infusion company inlieu of going to a hospital to have it done (thats what I did). Each session of the IVIG takes 3-5 hours based on your body weight and yes it is very expensive. Hope this helps.


Chad

[Jamiet]

Conrad,

My EMG showed the classic signs of something called Isaac's Syndrome, which is also "stiff persons syndrome'.

It's since been ruled out, but are your muscle twitches like "worms" under the skin, or pops.

Make a real tight fist, then try to open your hand quickly, can you open it quickly.

You need to have a special potassium test.

Most Stiff persons syndrome is not life threatning?

And you need to get to an ALS clinic.


Good luck.

Rgds,

Jamie

[ltr]

Hi Conrad

I researched for you and found that the abnormal finding of GAD autoantibody is used in conjunction with the symptoms of Moersch Woltmann Syndrome (Stiff Person Syndrome). The patient presentations I read had much, much higher levels than 10.3. The sites with good info. are these. In this first one the patient's GAD was 66.2 along with all the symptoms -

http://atlasgeneticsoncology.org/Kprones/StiffpersonID10103.html

In this reading, scroll down some for better info.
http://www.bcm.edu/neurol/challeng/pat40/summary.html

From what I found, GAD is a marker for a lot of neurological disorders which I would make me more concerned that there is something neurological that they should be checking. You know it's not Stiff Persons. With this positive test maybe you can check out some other autoimmune neurological disorders to focus on curing you. Hope this helps. I really think that you can get better Conrad and I am praying for you. Leslie

[CindyM]

Great research, Leslie! That's what I like about this forum. Everybody is so helpful and we tend to look out for each other. Hope your day is going well, Cindy

[ltr]

Thanks Cindy. By the way, I found the research I told you I would find for you that concerns the cranial muscles. I don't want to use Conrad's space, so I will send you a private message! Leslie

[vantec]

Hi Conrad

I researched for you and found that the abnormal finding of GAD autoantibody is used in conjunction with the symptoms of Moersch Woltmann Syndrome (Stiff Person Syndrome). The patient presentations I read had much, much higher levels than 10.3. The sites with good info. are these. In this first one the patient's GAD was 66.2 along with all the symptoms -

http://atlasgeneticsoncology.org/Kprones/StiffpersonID10103.html

In this reading, scroll down some for better info.
http://www.bcm.edu/neurol/challeng/pat40/summary.html

From what I found, GAD is a marker for a lot of neurological disorders which I would make me more concerned that there is something neurological that they should be checking. You know it's not Stiff Persons. With this positive test maybe you can check out some other autoimmune neurological disorders to focus on curing you. Hope this helps. I really think that you can get better Conrad and I am praying for you. Leslie

Leslie,

Thanks so much for doing the research, and finding the web sites that have information on the levels of GAD autoantibody's. This is getting so confusing to me, because I can't match my symptoms with any of the autoimmune disorders. I was hoping the neurologist would call me today, with the retest of my blood levels, to see if there was an error in the first test. Even so, I still am going to an ALS clinic (there is one in my area) for a second opinion.

And Jamie, when I am at rest, I can feel my muscle twitch, and at night, I have felt like there were worms under the skin, and a feeling of like popcorn pooping, under my skin. What does that mean?

If I make a tight fist my hand doesn't open as quickly as it use to, and gets real stiff when all my fingers are stretched out. I think Stiff persons syndrome is life threatening, but I can't seem to find out much about that on the Internet.

Conrad

[CindyM]

Conrad-you're describing the symptoms that a lot of us share. I'm rooting for anything other than ALS. We can form our own support group for whatever the new disease turns out to be! :-D Cindy

[ltr]

Conrad,

It doesn't seem out of the question that you could have an autoimmune reaction. You know that your symptoms can mean so many things! Jamie mentioned Isaac's syndrome which sounds like a possibility. I have been researching Isaac's syndrome for awhile and am anxious to talk to my neuro about it. It does not have anything to do with Stiff Person's Syndrome, other than the continuous muscle activity and the fact that your EMG's were normal doesn't fit, but you know from so many others that they can change. EMG's for this disorder read continuous muscle activity, even in sleep (something I definitely have). Here is a good link on Isaac's and there are a lot of others on the web. From what I read about Stiff Person's (and I read a lot!), the prognosis is unknown, but quality of life is very poor due to the severe muscle spasms with patient's secluding themselves so as not to trigger the spasms. Remember, GAD can mean a lot of things, according to reports on the internet.
Let us know how your new test goes! Leslie

http://www.ninds.nih.gov/disorders/isaacs_syndrome/isaacs_syndrome.htm

[beckycooper31]

I have just been diagnosed with ALS in Dec 2006. The battery of tests have been normal except for the usual upper motor neuron involvment. My EMG is still normal however I am having atrophy of both lower legs and intirinsic muscles of hand. Talking is a problem if I am fatigued. I had been progressing rapidly with inability to walk without forearm crutches. I began to take Lyrica for leg pain and Rilotek. I am doing so much better. Is this usual or could I have been misdiagnosed and getting better. By the way I do believe in Miracles and prayer as well as meds. I have had 3 opinions. This is my first attempt at the forem. I hope I am doing it correctly.

[Al]

Hi Becky. It is unusual to get better with Rilutek. Normally you don't feel if it is working. It's not like Aspirin and your headache goes away. Sometimes weird things happen. Miracles? Who knows? You're feeling better and that's what matters. Take it a day at a time. You're doing fine on the forum as well.
AL.

[CindyM]

Hi Becky. I am sorry to learn of your DX but glad you found this site. You'll probably have a lot of questions as time goes by. This place is great for getting help with any kind of issue. Write back and tell us a little more about yourself when you feel up to it! Cindy

[vantec]

Can you believe this? My Neurologist did a second blood test, as I asked him, and I got the results yesterday, and this time my GAD-65 Autoantibody level was 1.0, or in the normal range. He was going to put me in the hospital, and immediately do a spinal tap, full spectrum blood work, put a Valium pump in me, and do intravenous immunoglobulin treatments for 5 days. And they are very expensive. So I called him, and he said now that there was nothing wrong with me. What is with these Neurologists? I would have gone through all that for nothing. He didn't even apologize.

So I found an ALS clinic and they gave me an appointment in just 2 days. That must be a record, it can take months before you can get to see a top ALS Neurologist. This actually has me concerned. Does anyone think that I might be considered a mental case, and they want to put me into the psychiatric ward, because I keep trying to get a dx with no luck? What about doctor/patient confidentiality? It is possible that my Neurologist talked with the ALS Neurologist about my case? I know I sound paranoid, but why would they see me in only two days after I made my appointment?

I know my body, and I'm positive I have either a MND or an autoimmune neuromuscular disease. Wish me luck when I see the ALS doctor tomorrow.

Conrad

[ltr]

I can't believe how much you have been through. Thank goodness you knew enough to ask for a repeat blood test. Maybe it was the labs error. No telling what the drugs would have done to you.

As far as the paranoid stuff, yea it sounds paranoid, but I have thought it too! I know that when I went to see my rheumo, the neuro nurse practitioner wrote to her and she wasn't even the one who referred me there! I do believe that it is against confidentiality, but docs talk anyway.

You're not crazy Conrad, you're concerned for your health and want an answer. Have you ever had a spinal tap? There are a lot of tests that can be drawn from. And, chances are you called the als clinic just after someone cancelled. It could happen! Let us know how you make out. Leslie

[CindyM]

Good luck at the clinic tomorrow Conrad. I don't know why the neuo wanted to do those expensive proceedures but I haveheard on another thread where they sometimes try IV to rule out some other conditions. Did he change his mind because of an insurance issue? I can see where they'd back off an expensive treatment if they were using it as an experiment to rule out something and thought it was covered. Cindy

[patricia1]

These Doctors could make you crasy I went to the als clinic yesterday and because I am progressing so slow they want to try IVIG for multifocal Are they crasy I was told I have als how they want to change it to give me a 5000 treatment take by the way can put ypu in kidney failure stroke you out give you a heart attack or just give you flu like symptoms I am sooooo confused:???: pat

[ltr]

Hi Pat, have you decided what you want to do? I'm sure that is a lot of deciding. Good luck with whatever it is. I really pray it works out. Leslie

[Peg B]

Hi Pat,

I was diagnosed with ALS on Oct 31, 2006, by my 3rd. neurologist in 3 years. The others said "pinched nerve" but nothing conclusive. He said without a doubt I had ALS, and sent me for the clinical work-up to U of M - ALS clinic. They said MND for sure but it may be MMN and not ALS. I have been on IVIG for 3 months and go back to ALS clinic on April 5. I have not gotten worse except more tired and my one finger (antrophied completely since Sept 06) moves a bit. The bottom line is I may have MMN or "atypical ALS."
I never found what you said about the side effects of IVIG except "flu symptoms" which I had, but only after the first two (done 2 days in a row), because they gave me other meds to counteract the effects. I too think I have ALS but it's weird to me as MMN would be a much better DX. It is so weird to get any of these as they are all so rare. My cousin has PLS and there is no connection on that with me but that one is also so rare. Somehow even if its bad - having a clear diagnosis seems comforting. I am rambling now, but please know you are in the thought and prayers of lots of people including me. Take good care, Peg

[MtPockets]

Just a thought for all of you without a diagnosis yet. It might be a good time to get some life insurance if you do not have any, because after you have a DX of ALS you will not be able to get life insurance anywhere.

If it turns out you do not have ALS you can always cancel the policy. Just a thought about pre planning for the future of your families. I wish you all the best with your tests and docs. Prepare for the worse and pray for the best.

God Bless
Capt AL

[patricia1]

I ams so up in the air Just when I thought for sure it was als they want me to try iVIG what does that say No one really can be sure in the medical field I am allergic to so many meds I may drop dead or it would nt work[ after trying it . I am going for all the blood test today one for mycoplasma so ILL GO FROM THERE tHANKS paTQUOTE=ltr]Hi Pat, have you decided what you want to do? I'm sure that is a lot of deciding. Good luck with whatever it is. I really pray it works out. Leslie[/QUOTE]

[CindyM]

Hi Captain Al. Good advice. It can be a little unnerving waiting for the other shoe to drop, so to speak, if you let it get to you. My advice to everyone in this waiting game is to also do whatever you need to prepare for the worst but hope for the best. Plus this week I am enjoying the fact that I have no DX. Regards, Cindy

Patricia - How confusing! You must feel like you are going in circles!! Did you say you once worked in neurology and if so do you have contacts still in the field? Do they have an opinion on what you should do next? All my best, Cindy

[patricia1]

cindy I never worked in neuro i work in gastro family practice and cardio and they are clueless you would think they would help me find out they all are in denial as we all are at one time or another Pat

[ltr]

Hi Conrad,

I hope your appointment today goes well. I am thinking of you. Let us know what the doc has to say. Leslie

[vantec]

Hi Conrad,

I hope your appointment today goes well. I am thinking of you. Let us know what the doc has to say. Leslie

It has been a terrible week. I was examined by one of the top Neurologist at the Cleveland Clinic, rated the 3rd best hospital and 5th best Neurology hospital in the US. Just walking from the 3rd floor parking, then on to two elevators, to the office, exhausted me. I can't drive anymore, so I had a parent drive me.

He just asked me a lot of questions about how I felt, like if I could drive anymore, if I could still take a shower, and so on. I told him that driving was out of the question, taking a shower was getting harder every week, I have to be careful not to cut myself when shaving, because my hands are so weak, that I was having trouble swallowing, that I have twitches in my feet, legs, shoulders, back and hands (both types of twitches, the ones that make your body move, and the ones where you can see it under the skin). He then had me stand up from a chair, without using my hands, which I was able to do, but it feels like I am lifting 300 pounds, and I only weight 139 pounds (I've lost a lot of muscle mass, and my weight when this all started 9 months ago was 160 pounds). My voice is very nasal sounding, and I showed him how hard it is for me to swallow (it sometimes is just hard to swallow, and when I do, my throat jerks my head back). Then he checked my reflexes, and they were abnormally high. He had me sit on the floor, and try and get up without using my hands. I wasn't able to. Then he had me do it again, by gripping my hands, and when he pulled me, I was able to get to my feet. He had me walk down the hallway, and he could see how slow and out of balance I am.

It felt like I was getting nowhere with him, so I told him that I don't know what I have, but I do know my body, and I won't ever be able to do any of the things I like to do, because this weakness is progressive. He said that he didn't feel that I had a NMD, but he did schedule an EMG for April 6th. He said he would do some blood work (here we go again, I feel like I am going to need a transfusion, with all the blood tests I've had). We talked about Stiff Person Syndrome, but he felt that I should have a blood level much higher than 10.3U/mL, like in the 1000's. But Leslie's research found a person with Stiff Person Syndrome that had a reading of 62U/mL, not over 1000U/mL. Can you believe that the first Neurologist was going to put me right into the hospital, for intravenous immunoglobulin treatments for 5 days, on the very day that the blood work came back?

I have a bad feeling about this doctor, almost like I am some kind of joke. You wonder why? When the doctor was out of the room, I looked at his computer screen, and it had information about me, from the first Neurologist, and when he came back, he had my blood results from him too. They must be friends, and doesn't that break the doctor/patient confidentiality?

One last thing. A few days after my appointment, I got a call from the Cleveland Clinic, and the secretary said that the EMG would take 2 hours. Has anyone ever had a EMG that took 2 hours? The two I have had so far only took about 15 to 20 minutes. I'll let you all know how my 3rd EMG turns out. Sorry for the rambling post.

Conrad

[ltr]

Conrad,

I understand how you feel because I would want to start with a new doctor with his own opinion, not that of a doc that was no help to me. Did that other doc refer you to him? If he did then he can send records and a letter. Otherwise it was none of his business and maybe you should ask him why.

My EMG, of just my legs, seemed like it took about 45 minutes. Maybe he plans on doing numerous parts of your body. That would be good. I hope he turns out to be a good and helpful doc for you. Leslie

[CindyM]

Conrad, if you don't have confidence in your doctor then it makes things much harder. You and he (she) should be partners in your care. I hope you get some resolution soon! Cindy