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Stuck in diagnosis hell

jodyaknight 1 post Jun 29, 2010 7:46 PM	I started seeing doctors last summer after struggling with a variety of symptoms for about 1 year. My primary symptoms were droopy eyelid, double vision, severe headaches (likely as a result of the vision issues), weakness in my arms and legs (especially hands), numbness and tingling in my hands, shortness of breath, and extreme exhaustion to the point where I was having trouble getting out of bed at all. I saw my PCP, two rheumatologists (one gave me Tramadol and said I had Fibromyalgia after about 10 minutes, the other told me it was all in my head), an endocrinologist, and a neurologist before the neuro finally thought that perhaps it was MG. He did an EMG and told me after about 2 minutes that I had already failed it, but then completed the test and said that I passed it. I do not have any of the antibodies. He decided to try me on Mestinon while waiting for my lab results and it was like night and day. It completely changed my life. Based on that, he diagnosed me with MG. That was 6 mo ago. I am pregnant with twins now, and my MFM wanted me to consult with my neuro, so I saw him last week. He told me that he wanted to have a firmer diagnosis for the MG, and wanted me to do the single fiber EMG. At the time, he told me to go off the Mestinon since I'm pregnant, although it is not unsafe for babies (and I'm already 19 weeks), and to come back after I had the babies. I told him that I'm experiencing concerning bouts of shortness of breath and irregular heartrate that I am afraid are linked to the MG. He said that it sounded fine, and that I'm clearly not in crisis. My MFM was not happy with that, and was also concerned that my MG diagnosis may not be accurate after all, so he spoke to my neuro and they agreed to have me do the single fiber EMG right away to try to figure out whether it really is MG. I have to say that I'm freaking out. I'm having tons of symptoms again because of going off the Mestinon. I'm afraid of the test because it sounds really awful. But, mostly, I'm scared of having to start the diagnostic process all over again. Last summer, my neuro seemed like the only doctor who actually listened to me after going from doctor to doctor. It was such hell to get a diagnosis, and I thought I had one, and now it feels like we're back to the drawing board. Except, now, I have less faith in my neuro. I'm not sure what I'm looking for here, except maybe some sympathy or understanding from people who have been here. Or even advice about next steps. My antibodies have only been run once, and my MFM thinks we should re-run those. Anything else we can do to try to figure this out, other than the test?
Twis 67 posts Jun 30, 2010 12:16 AM	I don't understand why you've been taken off the Mestinon if it was helping you so much. As you rightly say, it's considered safe to take during pregnancy. And surely if you're stable and it's helping to keep the symptoms under control, it's better to 'risk' taking that than to risk a crisis? You can have MG and be antibody negative. Have you had the EMG test? What did it show? No wonder you're a little upset and scared by it all. You have to think of the health of your babies, and keeping you healthy is the best way to help them. ---------- Ellen Cheltenham, Gloucestershire Diagnosed June '09, thymectomy Sep '09, managing with just Mestinon. Mother, professional pedant and farmer's wife.
lynette 31 posts Jun 30, 2010 3:32 AM	What a difficult situation. No wonder you are freaking out. I have gone through diagnostic testing for MG twice, most recently with the single fibre EMG which I’ve just recenty been told was negative. Like you mestinon is dramatically helpful for me. Despite this I was told I don’t have MG. Not being pregnant my neurologist didn’t need to be so cautious so I have been told I can continue with the mestinon. I’ve reactivated an old strand for you to read re people testing negative which I found really helpful. Of course your SFEMG may be positive, although the results took ages for me, they may speed it up for you. I didn’t find the single fibre EMG too bad, and strangely I felt quite good for a day or so after it. I wondered if it had doubled up as an electro acupunture treatment! Re mestinon in pregnancy. At normal doses, pyridostigmine is not expected to significantly cross the placenta, although at high doses a little might. The main possible problem time would be in the earlier part of pregnancy, when the neural tissues are being formed, you have already passed that phase of pregnancy. In late pregnancy and delivery the benefits of mestinon would outweigh any problems and you may well have a caesarian section in your situation in which case as long as the anaesthetist knows about MG like illness and medications that would be fine. So if you have some mestinon left in your situation I might think about taking a low dose when things were especially bad until further supplies can be obtained. There isn’t enough information on mestinon in pregnancy for it to be declared completely risk free, although it is thought to be. Good luck!
Chriss78 33 posts Jun 30, 2010 3:43 AM	Sounds like you're very stressed out I sympathise, I had EMG and hated it but when I had the single fibre EMG this was nowhere near as bad and I'd been so worried about it. My EMG has not shown any specific problem with the neuro-muscular junction and I don't think I have any antibodies but I think bloods are being re-tested and also tested for CMS as I now know I've had this from birth. I would keep in touch with your neuro regarding your medication though, if you notice your symptoms are back with avengence then surely your medication can be restarted good luck
AnnK 179 posts Jun 30, 2010 10:40 AM	Hi Jodyaknight I've had two SFEMGs - both negative. I'm also sero-negative - my blood tests being negative for antibodies including anti-MuSK...When you say you've tested negative for antibodies did that include a negative anti-MuSK antibodies blood test? If not, perhaps you could ask to be tested for the latter like I did (the results can take many weeks to come through though, but better later than never). I know what it feels like to struggle for a diagnosis - I wasn't diagnosed for two years and, as I have hypothyroidism, my doctors thought I had thyroid eye disease (and haven't still definitely ruled out that I might have mild thyroid eye disease as well as OMG). I've also had fibromyalgia for over a decade, so my general muscle pain, stiffness and associated chronic fatigue also threw them off the scent, so to speak My advice would be to avoid (at least for a day before your SFEMG) caffeine (to include coffee, tea and chocolate), tomatoes and potatoes as they all can improve MG symptoms like Mestinon does and could skew/hamper the outcome of the test. (Wish I'd know this before I had mine done.) My other tip, especially as you're pregnant, is to get yourself as comfortable as possible on the couch before they start the SFEMG - e.g. a cushion/pillow under your knees, one supporting your head etc. I say this because both of my SFEMGs involved my lying on a relatively hard couch for about 40 mins in virtually the same position all of the time, 'earthed' by some wires, so you need to be comfortable. They didn't needle for the whole of the 40 mins - They spent time doing things with the equipment and looking and calibrating (if that's the right term) the results as they went along. I was needled both times at the side of my eye (crows' feet area, but I'm sure that you don't have crows' feet, but you get the idea!). The first time I was left with a bruise the size of half a medium sized marble and the second time I was just left with a bruise the same size but with no swelling. I was offered no ice or anything for afterward, so on the second occasion I used the coolpack that I'd put in with my packed lunch, i.e. to reduce the swelling and it obviously worked. The whole experience wasn't pleasant but it was bearable. (I concentrated on my breathing and thought nice things.) I've had more pain from a smear test actually, but, as I've had acupuncture a number of times, I suppose I'm not really bothered by needles. In the end I was diagnosed as having OMG by a Consultant considered to be an expert in the field of MG. My neurologist referred me to him because he didn't want to prescribe anything other than Mestinon without a confirmed diagnosis. I wish you all the best. Do keep us posted of how you get on. Ann
alice 858 posts Jun 30, 2010 12:09 PM	Ann, What you say is interesting- In the end I was diagnosed as having OMG by a Consultant considered to be an expert in the field of MG. and that, I understand despite a normal SFEMG and no detectable antibodies. I have noticed that more and more neurologists are ready to accept the diagnosis of OMG with normal tests, although not the diagnosis of GMG. It seems like they have this notion that if the illness is relatively mild, then it's possible that there will be no detetable antibodies and normal EMG tests, but if the illness is more severe this is not possible. The more severe the illness is, the harder it is for them to accept that it can be so, with completely normal tests. further more I have noticed that patients with obvious generalized symptoms of MG, are given the diagnosis of occular, because their tests are normal. I personally would question if at least some of the symptoms you are describing are not related to MG. I personally do not think that any of those "manuavers" (avoiding coffee, certain foods) have a signficant effect on the SFEMG. if you have ptosis during the test, then the problem is there. it is just not in the neuromuscular junction itself, and therefore your EMG (which only measures the electrical signal transmitteed) will always be normal, (as frustrating as it may be). I had one neurologist, who was so convinced that I have MG, and so frustrated by my normal SFEMG, that he repeated it 5 times, and even had me call him day and night if I am feeling very weak, so he can do it then. He even did an RNS of the diaphragm, and then after a few months of all those tests, when he realized that my condition was deteriorating, and he has to start treatment soon, he told me that it doesn't matter, there is nothing else that can explain my illness. after treating me for almost a year, and not getting any long-lasting response, he decided that probabably I don't have MG after all. and if I do it is very mild and does not require any treatment. only when I had respiratory failure, due to my "very mild" illness, did he recomend a consultation with someone more experienced then him, who after diagnosing me with MG (despite my normal tests) and treating me quite agressively for it, he decided that I am in remission because of a normal SFEMG, done at a time I was nearly paralyzed and required respiratory support. He explained to me, that this could not be "real" as he would expect someone with such severe weakness to have an abnormal EMG. those "expactations" that led to serious management errors led me to try and find out where they come from and what they are based on, and to my surprise, I found out that they were based on very little evidence. and just became "axioms" of an entire field. The notion that myasthenic symptoms can only be caused by abnormal trasmission of the electrical signal is completely wrong. I know that this information is not of much help to someone undergoing this diagnostic process and being told that he/she does not have myasthenia because all the tests are normal. alice
jodyaknight 2 posts Jun 30, 2010 11:37 PM	Thank you for all of your insight. I only take one Mestinon per day, which is part of why even my MFM (who is certainly very aware of what is or is not pregnancy safe) told me it was ok to stay on it. I don't understand why my neuro felt that it was so important that I go off of it. I'm now suffering from dramatic reduction in my overall wellness. All of my symptoms from last summer are returning now, on top of the general difficulties in a twin pregnancy. I feel pretty awful. I am also dealing with constant shortness of breath that is pretty scary. I have difficulty getting enough breath to speak or sing to my kids now. It helps to know that the SFEMG is not so bad. It is scheduled for the 26th and, frankly, I'd do just about anything to finally figure out whether I have MG. But, it seems like it may not really answer that question after reading through the negative thread. My neuro did test for the anti-Musk antibodies. He ran all of the bloodwork that is normally run, I think, from reading other posts here. I don't understand why the Mestinon would help SO much if I do not have MG. My neuro said it would do nothing if I didn't have MG, and Mestinon was the 5th or 6th med he tried me on (all of the others were unrelated to MG and actually made me worse). The diagnosis really seems to fit, but with no tests to prove it, it's so frustrating. Anyway, thank you. Reading this forum over the last week has helped me so much. I've tried to find others with MG on pregnancy boards and such and haven't been able to find anyone. It's really invaluable.
AnnK 181 posts Jul 01, 2010 12:53 AM	Hi Alice Many thanks for your comments - all of great interest to me. It is also of some considerable consolation/comfort to me that your opinion is that cutting out caffeine etc doesn't have a significant effect on SFEMGs. Having struggled in pain to travel to and from my first SFEMG in a strength-draining heatwave in July with a negative result and then to my second SFEMG in January in a sleet blizzard, stranding me away from home for 12 hours (for a return journey that should have taken about an hour and half) only to receive yet another negative result - I had 'kicked myself' for not finding out more and cutting out caffeine etc prior to the tests. However, that said, if my neurologist were to want me to go for another SFEMG I think I would still cut them out before hand, just in case - unless, of course, perversely, caffeine etc., might actually aid rather than hamper the process!... I always cut out caffeine, which usually lifts my ptosis, before I see my neurologist so that he can see my eyelid drooping - in the hope that 'seeing is believing' - i.e. to show that something is obviously wrong with me, even if it's not O/MG...In fact it was only when I did my own icepack test on my ptosis, taking before and after photos, to show the lifting of my eyelid in response to the cold, that my doctors at the eye hospital began to reconsider that I might have OMG after all, even though my blood tests were normal - I was then referred to my neurologist, who then referred me on to the MG specialist for diagnosis. I suppose I should have also made comment to Jodyaknight that I have read that SFEMG results depend greatly on the skill and expertise of the doctor performing the test. Sorry, when you say, "I personally would question if at least some of the symptoms you are describing are not related to MG" are you saying that my symptoms are or aren't possibly related to MG? I have had muscle pain, muscle spasms, stiffness and chronic fatigue for over a decade and I have been wondering whether they are all connected to my O/MG. My back pain in particular (in the thoracic region) has always felt to me to be caused by muscle weakness - a kind of collapsing feeling causing me burning pain. Repetitive movements are a particular problem for me - causing me weakness and pain. I believe what you say, i.e. "The notion that myasthenic symptoms can only be caused by abnormal trasmission of the electrical signal is completely wrong." And, in addition, the belief held that the amount of anti-bodies found has to correspond to the severity of symptoms is seemingly a misnomer too - No wonder many of us have such a frustrating time getting a diagnosis...It reminds me of the fact that stomach ulcer sufferers were told for years that stress caused their condition only for it to be found out later on that in the majority of cases the ulcers were caused by a bacteria. It took a doctor experimenting on himself to prove this to the rest of the medical profession, didn't it? Apologies if you have gone into this in other posts/threads, but what else can cause myasthenic symptoms, i.e. other than abnormal transmission of the electrical signal? Ann
alice 862 posts Jul 01, 2010 3:56 AM	Ann, what I meant is that it is possible that all your symptoms are MG related, and as they are less specific and harder to see then a drooping eye lid, were atributed to other causes. you ask what else can cause myasthenic symptoms other then abnormal trasmission of the electrical signal. it's almost like asking how come my computer is not working properly even though it is plugged in the electrical socket? biologigical systems are very complex, and there are multiple steps involved in each process. let's look at a relatively simple cell suc as the blood red cell. this cell is mostly a flexible bag that has to carry oxygen from one place to the other, and change its shape so it can go into narrow blood vessels, but has no nucleus and no other functions. it has to keep on going back and forth from the lungs to the rest of the body, for 120 days, without being destroyed by the shear stress of flow in the blood vessels. But there are mutliple abnormalities that can make it malfunction, and/or have a shorter life-span. there may be abnormalities in membrane proteins that make it lose its flexible structure. there may be abnormalities in the protein that carries the oxygen, and those can lead to sickle cell disease, thalasemia etc. and there may be deficiencies in enzymes that keep it from being harmed by the oxygen it carries. even lack of certain nutrients that are essential for its normal production, such as iron (required for its oxygen carrying capacity) or vit B12- can lead to transient abnormalities in its size, and function. now think of the muscle, a much more complex system, that has to be co-ordinated by multiple signals, so as to contract and relax in the proper manner. and just imagine how many things can go wrong there. fine, the electrical signal has been trasmitted to the muscle cell membrane and now what? this has to lead to entry of calcium into the cell by opening special channels. and when this calcium enters? this is just the first step, because now it has to lead to release of calcium stored inside the cell. and when this happens? this calcium has to attach properly to special proteins that will slide against each other, thus making the entire muscle shorter, and those all have to work in a co-ordinated manner. and each muscle in our body has hundreds of those, and if they don't work together you will not have proper muscle contraction, but fasiculations (which are small incoordinated movements). caffeine has no effect on the trasmission of the electrical signal, but it has an effect on the release of calcium from stores inside the cell. if for the same signal, you have more calcium released, you will end up having a stronger contraction. the effect of caffeine on muscle strength is quite minimal in normal subjects, but may be very pronounced if there is an abnormality in this specific step. ephedrine, the first treatment for myasthenia, probably works in a similar way. this agent too has no effect on the trasmission of the electrical signal (in the doses given to patients) but has an effect on further steps in muscle contraction. I hope what I am saying is not too confussing. alice
AnnK 183 posts Jul 01, 2010 6:07 AM	Alice Everything clear and not confusing - many thanks. So, really what we badly need is more research - which in turn could lead to different and/or more sensitive tests and in turn again more treatments(?) Ann
alice 866 posts Jul 01, 2010 7:08 AM	yes!!! that and a bit more skepticism and open-mindedness from those that are considered leaders in this field. alice
Jen2533 108 posts Jul 01, 2010 8:01 AM	Jody, I am so sorry you are on the diagnosis train while pregnant, it is bad enough as it is. And stress isn't good for any illness. I am seronegative with generalized MG. It took 6 months for a neuro to even try Mestinon but after that worked and I had 2 exacerbations that responded to treatment the diagnosis was confirmed. I had the SF test and it was negative but it wasn't as bad as it sounds pain wise. Hang in there and make sure to communicate all of your symptoms with the doctor you trust. Best of luck! Jen
chairman MGA Forum Chairman 1544 posts Jul 03, 2010 2:13 PM	Jody Lots of women with MG have babies successfully. You need to go the MGA website and download the informatin books. Most neurologists in UK would say that the most important thing for a pregnant woman with MG is to get her MG under control - so if Mestinon helps to control yur MG it would seem sensible to continue taking it. It might help you to look at my daughter's story. She has had 2 children since being diagnosed with MG. Her problems with the first are described Here: www.mga-charity.org/web/guest/louise-s-baby-pregnancy-and-mg The baby in the story is now 14. ---------- Peter Finney MGA Forum Chairman Last Edited on 4-Jul-2010 12:26 AM
Twis 71 posts Jul 03, 2010 6:28 PM	Hi Jody, 1 Mestinon a day is not very much at all. I'm very well at the moment, and I generally take 3 a day. When I was more ill last year, I was taking 6 1/2 a day. It's suprising that you got such good results from such a small dose. The drug doesn't last for long in the body and needs topping up every 3-4 hours. However, since you found it so beneficial, this doesn't seem the time to explore logic. Good luck with the SFEMG. ---------- Ellen Cheltenham, Gloucestershire Diagnosed June '09, thymectomy Sep '09, managing with just Mestinon. Mother, professional pedant and farmer's wife.
jodyaknight 3 posts Jul 03, 2010 9:09 PM	I was actually taking Mestinon twice a day for awhile because it seemed to sort of wear off mid-day. I wouldn't have minded a third one in the evening, either, but my neuro seemed opposed to adding in additional doses. I guess I just don't expect to feel well. I haven't felt well in years. But, last summer, I couldn't get out of bed half the time due to exhaustion/migraines/weakness/etc, so the Mestinon meant the difference between functioning and not functioning. Maybe I should actually try to feel well at some point? I guess I've just had a very low bar and haven't expected that to ever happen so when I could function again, I didn't push to keep trying meds until I felt well. Thank you, particularly for the information on pregnancy. I'm going to go read that link right now. My neuro told me that if I have MG it should get much better, and be nearly symptom-free, during pregnancy. I have to say that is NOT my experience right now. At all. It is helpful to know that people out there have healthy pregnancies even with MG, though! I've taken so much comfort from others who are serum negative. This site is so great.
chairman MGA Forum Chairman 1547 posts Jul 04, 2010 12:28 AM	Jody Not all women with MG feel better during pregnancy - but some do. If you search this forum you will find a lot of posts about this subject. ---------- Peter Finney MGA Forum Chairman
alice 875 posts Jul 04, 2010 8:40 AM	I think your daughter's story is beautifully written and could help not only pregnant women, but all those that have to deal with physicians that know better then them what is good for them. many times based on very little evidence and lack of a sensitivity and deep enough understanding or true interest of the patient's needs. and it can also help physicians understand what the impact of their decissions or a few words they carelessly say, can be. alice
jodyaknight 4 posts Jul 26, 2010 6:07 PM	Thank you so much everyone. I had my single fiber EMG today and it came back obviously positive for occular MG. They only did it in my eye, not anywhere else, which is kind of frustrating to me because I have generalized symptoms... that said, after an hour of shocking my eye, I wasn't going to ask that they do more. In the end, I'm very happy that I had this test done. It was uncomfortable but now I know for sure what is wrong with me and no doctors will be able to question the diagnosis again. After going through such an ordeal trying to get someone to listen to me, having it in black and white is a relief. Now that I have a diagnosis, I hope to be an active participant here.
Twis 72 posts Jul 27, 2010 10:14 AM	Well, that is good news. Back on the Mestinon, then? I hope you find it helps you again - pregnancy is hard enough work without any extra obstacles being put in your way. ---------- Ellen Cheltenham, Gloucestershire Diagnosed June '09, thymectomy Sep '09, managing with just Mestinon. Mother, professional pedant and farmer's wife.