Does anyone have Isaac's syndrome or have a relative or friend who does? Also, if you are just knowledgeable about this disease...
Thanks,
Lynn
Does anyone have Isaac's syndrome or have a relative or friend who does? Also, if you are just knowledgeable about this disease...
Thanks,
Lynn
I was just recently diagnosed. A positive test for voltage-gated potassium channel antibodies (VGKC) is what clinched it (after 1.5 years of a frustrating search). This is what I gather from what I've read and what my neuro has told me: It falls under the umbrella of acquired peripheral nerve hyperexcitability (APNH) syndromes. Many use neuromyotonia and Isaac's Syndrome interchangeably- although some sources list them as separate disorders. It is thought to be an autoimmune disorder of neuronal potassium channels.
My clinical course included an abrupt onset of feeling shaky, dizzy, out of sorts, then just generally "twitchy" A few days later my leg stiffened up and twisted when ever I walked. I could get going the first few steps, then it would gradually worsen until it was hard to walk comfortably. This would completely resolve (quickly) with rest. I became easily fatigued with chewing and swallowing. I also have some very mild troubles with getting "a full breath" when symptoms are especially bad, but this doesn't happen often. More recently I have "posturing" of my right arm (it bends upward along with my thumb). About the same time all this started- I noticed twitching muscles all over my body. Very mild mostly- but everywhere and almost all of the time. I had other strange things, like an arm that would feel heavy and cold, and "cold tingles" in focal spots on my face. If I "pushed through it" and kept up activity I would get extremely chilled with actual goosebumps all over my body. My symptoms were "triggered" by activity always, but bright lights, certain patterns, sudden startle, fatigue, stress, also seemed to kick things off. I have improved immensely with antineuroleptic drugs (seizure medicines)- but have had to be patient as it can be difficult to find the best drug with least side effects. At the moment: 60-70 % of my life is mostly symptom free on medication. I am still working on upping that percentage! I receive some of my care at a specialty clinic for movement disorders at a large medical center in another town as well as from my local neurologist who communicates with that medical center when needed.
I hope this is helpful.
Thank you for sharing. I have had neurological complaints for 12 years this May that no one has been able to put a name on. In doing my own research, Isaac's and a few others did not exist or were not available in medical manuals when I was first ill. I have found out much information since last summer.
My symptoms are very similar to the descriptions I read about Isaac's, neuromyotonia, and benign fasciculation disorder. From 2000 until last summer, I did nothing. This was due to the fact that during most of my two pregnancies, I experienced remissions and even greater remission when nursing. My symptoms came back strongly last summer and so reluctantly I started to consult physicians again. I am scheduled to see a Duke doctor soon. My neuro. here has ruled out MS, ALS, and many other things.
I don't know if you are female and have any exp. with remissions with pregnancy/nursing. You don't have to tell me if you are not comfortable. I would like to describe some of my symptoms and see if you have ever experienced anything that I have. You gave a very good description of your symptoms above and some I have and some I do not.
This started after a viral (URI) infection. I had headaches which I now think are migraines and unrelated. I felt all over body weakness. It was hard to climb the stairs. (I was 26 about to turn 27). My muscles were trembly and I felt strange. Then the twitching started and over time I now don't think there is any muscle that hasn't twitched in my body. Stiffness in the muscles, spasms which caused pain. The neuros at that time put me on Ativan and Flexeril which I still take today. I became very depressed and we had to weed those symptoms out. Tingling and strange tickling feelings. Feelings like something is on my arm/leg, but nothing is there. I even have the tingling on the left side of my tongue and sometimes it is twitchy on that side. That really freaked me out. I did have the tired jaw feelings, but have come to find out that I clench at night and have TMJ. One thing about Isaac's that struck me is the symptom of hyperhidrosis. I have had the sweating problem (feet, hands, arms) since a young teen. It has gotten better, but was once almost a handicap. When they tried to take me off of my meds with the first pregnancy, the left side which has always been the bad side-head to toe-- became so stiff, I felt like I was going to have trouble walking. They put me back on the meds. It has really caused so much trouble in my life in so many ways. I just want an answer. Can I ask who the doctor is who diagnosed you? Tell me again the tests they used. Was it labwork and an EMG? Thanks so much for any help that you can give!
Lynn
I too, had the trembly, weird feeling.- it drove me crazy. I felt like I was drugged. When I walked in open spaces it was as if I was walking up a ramp. This would only happen at the beginning of a "bad stretch". I get paresthesias as well in fairly focal areas. Mine is the feeling like a cold breeze is on my skin. Only lately are my muscles slightly stiff at rest- most of my muscle symptoms are with activity, but only with certain movements (ex: I can bike better than I can walk) My twitches have also been in every muscle. I was tested for a voltage-gated potassium channel antibody which was positive. I have been told that I may have an "overlap" syndrome with paroxysmal dyskinesia- I don't really understand this- but I guess the thinking is, is that many of these diagnoses cannot be pigeon-holed into one exact syndrome, but may represent an overlap of known syndromes. (perhaps they have just not identified them all yet) My neuro is at the Baylor Dept of Parkinsons and Movement Disorders. They have been great- but not sure how much of this they see. I have considered getting an opinion from Mayo in Rochester... but really am sick of seeing doctors. Please let me know how your appointment goes at Duke. It seems like a trial of antineuroleptics to see your response would be a good idea. They have changed by life.
Samilian, which antineuroleptics have you tried/are you currently using? I was recently diagnosed with Isaac's after 18 months of suspecting but not really knowing. I'm currently undergoing plasmapherises (aka plasma exchange) but it doesn't appear to have a significant impact.
I misspoke. I take antiepileptic medication. I am currently on tegretol. I have tried topamax and zonegran. All these have been somewhat helpful-- it is just a matter of finding the right side-effect profile for me. As time has gone by- some of my symptoms have progressed/ gotten worse. It is unclear to me if I need medication adjustments, or if the worsening symptoms are just harder to control with medication. I am currently working on some adjustments.
How did you ultimately get your diagnosis? I am very curious about your plasmapheresis. May I ask where you are receiving it/ who recommended it ? (I receive my care in Houston) Do you have a positive VGKC antibody- and if so, was your titer very high? Plasmapheresis has been mentioned to me- but not recommended.
Looks like we're in the same boat. I receive my treatment in Houston. My neuro is at Methodist. She confirmed the diagnosis via voltage-gated antibody. My level was a 144. (What's yours, if you don't mind me asking. I'm interested in learning whether there is a correlation between level of antibodies and severity of symptoms.)
I tried the drug route first. In fact, I asked my neuro for tegretol but she preferred dilantin. Dilantin made me very dizzy and forgetful. For the past year and a half I have been on low doses of klonopin (aka clonazepam). Klonopin is excellent for combating fasciculations and anxiety. If it weren't so highly addictive, it would be a near-perfect drug for me. I have had a hell of a time getting off of it these past few weeks.
I am currently trying plasmapherises because the drugs didn'tt seem to have worked. The dilantin, in particular, effected my work. So far I am in the middle of my first "round" of plasmapherises. The first round involves five treatments in the first seven days. I have had three treatments thus far and go back for another treatment tomorrow.
It's too soon to say whether plasmapherises is working. My fear is that I am calling out the "big gun" but have no idea what I will do if this doesn't improve my symptoms. Thus far, I can tell you that the very first treatment brought dramatic results. I don't know whether it was psychopsymatic, but I was virtually symptom-free for 36 hours. The second and third treatments showed similar improvement but the symptoms returned more quickly. I guess only a fellow Isaac's sufferer can appreciate the joy of having virtually no symptoms, if only for a short while.
I hope to hear from you. Any information would be appreciated. I will provide more details about my own treatment(s) if you are interested.
P.S. As I'm sure you are aware, there's an excellent forum at www.aboutbfs.com
My level was 196. I have heard of people with levels over 1000- but it was in a different setting (a paraneoplastic process). I'm not sure how much the levels fluctuate on a day to day or week to week basis.
Side-effects have been a limiting factor for me as well. It seems I go from; not able to do things because of my symptoms, to; not able to do things secondary to side-effects.
Do you have much limitation in your motor skills? Any problems with your facial muscles, swallowing, or "getting a good breath"? Do you have any other strange symptoms? (ex: I get some visual symptoms, almost like a "visual seizure"- but this has been only rarely. I also get episodes of feeling "strange and shaky" from time to time) I am curious about this, because much of the emphasis in the literature is limited to the fasciculations/twitches and muscle stiffness.
Do you have any data/ case reports on the benefits of plasmapheresis? I would be intersted if there is any information on long-term symptom control.
I sure do hope these treatments work for you. Please keep me updated! (Is the plasmapheresis well-tolerated? Any side effects?)
I'm in a bit of a hurry this morning so I will try to give brief answers. I hope you don't mind if I enumerate:
1. Motor skills - Fortunately I do not have too much limitation in motor skills at this point. I've read that such an effect is extremely common. I occasionally have facial twitches, plus difficulty swallowing and I have noticed a problem with "getting a good breath." I often have to stop myself in mid-sentence because I can't seem to finish it out with the available air in my lungs.
2. Strange symptoms - My goodness, do I feel strange and shaky! I have read about this from others and I am 100% convinced that this is not due to secondary anxiety.
3. Data/case reports on plasmapheresis - I don't have data on this other than anecdotal evidence and what my neuro tells me. I was surprised that she suggested this treatment, especially so quickly, but I am very grateful that she is taking this seriously. Most neuros give you pills and "monitor" you for a few agonizing months. After having my neuro assure me that the process was safe (and after reading about it on the web), I concluded that there was absolutely no harm in trying. Thus far I am tolerating the treatment fairly well and can tell you that plasmapherises is indeed safe. The program at Methodist is top-notch and the staff is competent and friendly. Big question: will this work? I don't know whether this will work short-term, let alone long-term. If, however, I experience noticeable improvement and only require a two-hour "booster" treatment each month, I can tell you that I will be doing cartwheels over to Methodist every month from now until eternity.
I'll keep you posted on the plasmapherises. Yesterday's treatment seemed only to bring relief for a few hours but, again, I don't know why I improved or why the improvement didn't last. Perhaps I'm going to have to keep slamming away at my autoimmune system before it learns not to over-produce these anti-bodies. Perhaps the answer might lie in a combination of plasmapherises and drug therapy. At this point, I am most encouraged that my neuro seems to be trying something, anything.
BTW, you haven't listed a single symptom that I haven't heard others complain of.
Greg,
I noticed you wrote down the abfs.com website. Do you consider Isaac's, neuromyotonia and BFS to be one and the same or just very similar with a few differences?
You can see my earlier comments in this discussion if you'd like to. Just curious as to what you or your physician may think.
Thanks for your input,
Lynn
Hey Lynn. My neuro uses the three terms interchangeably. However, according to my neuro, "there are probably 15-20 things that can cause benign muscle fasciculations." She describes "classic BFS" (aka Isaac's and NMT) as having the following characteristics, in addition to muscle twitching, usually in the calves and legs:
1. Normal EMG;
2. No obvious impairment on simple strength and motor skills tests;
3. Elevated count of voltage-gated antibodies in bloodstream.
Given how long you've had your condition, you will almost certainly fill categories one and two. Whether you have BFS/NMT/Isaac's will depend upon the results of your blood test. I think you should get an EMG (for peace of mind) and then get a blood test if you want to know more. In any event, the prescribed drug regimen will probably be similar no matter what you may have.
Yes, I have had this for 12 years with remissions during pregnancies/nursing. No neuro has yet tested me for Isaac's. I do have a Duke appt. coming up. It is being scheduled now. I fit all of the categories except the twitching and parathesias are all over. I am sure you read my prior discussions. I have even had twitching and a numb feelings in the tongue area. I have not had any motor impairment of any kind as of yet....thank goodness. I had EMGs done in 1995 when I first came down with this and again in 1996. Not since. I am sure this neuromuscular doc will want to do them. I found the BFS site last summer and couldn't believe that I had finally found some folks like myself. It has been a hard ride not knowing and thinking you are all alone in it.
I guess the stranger symptoms have me in fear of worse diseases at times. I know they have been ruled out but you still worry when you are having symptoms.
Thank you for your reply. I do want to ask, when you are having symptoms do you find it harder to work, and that you are much more tired esp. in the affected musculature-not weakness per se, but a fatigue?
I do also do yoga and it has helped me greatly.
Lynn
Hi Lynn
I am new to doing this on the internet. I have been having muscular problems for about 3 years now. No one has given me a straight answer yet of what is going on with me. Hopefully this will help me with this, knowing there are other people with the same problems. I have pain, numnus, twitching, and tingling in all my exstemities. Difficulty breathing and swollowing. I also have minor twitching which can go into spasums. I am still able to work. I can no long do aerobic exercising WHICH I loved to do. The most I can do is ride the bike.
I am now being seen at John Hopkins, so hopefully things will start moving along.
I am going to keep this short being this is the first time on this site.
Please let me know of any important information that I may need to know, this way I can get things moving faster.
KVK-Beale
Dear KVK-Beale,
Who else have you seen besides John Hopkins? Do the doctors give you any ideas about what they think you have? What tests have you been given?
I have seen doctors with a few years of not seeing anyone for a total of twelve years. Not continuously, but I have seen quite a few neurologists.
I have basically done my own research, and with information from each doctor have found a close guess as to what is wrong with me. I really feel like when it comes to these hard to diagnose/rare diseases we end of having to do most of the work to find out what is going on in our bodies. We know what is wrong and what it feels like. We also have the greatest motivation to getting ourselves well.
I have a strong faith in God as well. I did not early on in my illness. I was very angry with God. Now, I have found a peace that I did not have before. This is not to say that I am never frustrated or upset because I do get that way from time to time.
If you keep digging, you will find answers. You keep asking enough questions and talking to others in a like situation and you will find even more answers and doctors who can help.
I don't know if you you have been to the BFS website. Greg talks about it a few emails up in this discussion. It is a site for those with benign fasciculation syndrome. Some docs think it is synonymous with Isaac's, neuromyotonia and a few others. You might want to check it out.
I was so excited to find other people with my fears and symptoms. It was there, but it took me years to find it!!! I found it after I prayed for an answer one day. I was very frustrated and was at the end of my rope. It was reassuring to hear others with the same problems. You might want to just look. You can read the discussions without joining in.
If I can be of any help to you at all, I would love to. Hang in there, an answer will come!
Lynn
Hi Lynn
Thank you for replying to my e-mail. I have seen other doctors in my area to no avail. They are treating the symtoms and not the disorder. They have no Idea to what I have going on. I have had MRI's of my brain, neck, and lower back. The brain scan was normal. I just had the back done waiting for the results. I have a chest Cat scan that was normal. I just had a lot of blood work done, waiting for results. My past blood work was all normal. Electrical muscle stimulation inconculsive. I also had a MUSK test done it was normal.
I will keep researching the net to hopefully find what is wrong with me. Sometimes I get so deprest, but I have made peace with myself and I will do the best that I can. The main this is I just need to know what is wrong with me.
I will keep intouch thought this web site
KVK-Beale
Hello,
I am so happy to have finally found at least a few people with Isaac's Syndrome! I turned 43 this month and was officially diagnosed with NMT/Isaac's Syndrome in May 2006. As well as finally being diagnosed with photo convulsive epilepsy -myoclonic jerks. However, given some additional medical background history there is also a side diagnosis of Morvan's. In addition to the neurological I also have severe idiopathic gastro dysmotility characterized with gastroparesis, esophageal dysmotility, colonic inertia and pelvic floor dysfunction ... there is the possibility of the gastro issues being tied into the NMT. In addition I have an extremely elevated B12, which the hematologists that I have seen state to be very unusual with no purpose, idiopathic in nature. Interestingly enough I am severely iron poor and just went extremely anemic. Just today I experienced my first in a series of four iron infusions.
Wow, I am so excited to meet and hear of other people experiencing this syndrome. In early childhood I can now look back and see the issues with stiff muscles, shaky sensations, etc. In my early twenty's they treated me for 'panic' and 'anxiety' attacks but I can look back now (I don't have these episodes) and see where it was the Isaac's, Morvan's and the early signs of the gastro issues. I was originally being worked up for MS in my mid 30's when they did the first EMG which came up 'significantly' abnormal. The neurologist was so amazed at how abnormal my test was that he mono-focused on the results but had no explanation. Then, years later after having seen 'way too many' doctors and hears how crazy I was by many I was seeing a spinal doctor for my spinal stenosis and he performed a repeat on the original EMG. He too was fascinated on how abnormal the result were but after having consulted over the phone with a specialist at the University of Washington he told me that it was a simple case of EMG Disease and that it meant nothing.
This all began from first abnormal EMG to the present back in 1998. From that time to my diagnosis in 2006 the road has been a journey. With the gastro issue (also referred to as Chronic Intestinal Pseudo Obstruction), the epilepsy, myoclonic jerks and blood issues I have since stopped working as of October 2006. I was a work-aholic and this has been the hard part of coping with the diseases/syndromes. Very little is known about the neurological aspects and in Washington State (the Great Pacific Northwest) we do not have a specialist hospital such as a Mayo Clinic to assist in research. I am currently trying to petition my insurance company to pay for services if I can win a case to be seen at the Mayo in Missouri which, to my understanding has a research clinic covering Nuromyotonia/Isaac's and works with the stomach pacemaker for gastroparesis and the global dysmotility issues.
My blood work came up negative for the calcium channel markers but I was told that not all individuals are positive since they are still doing research and not all markers are known. My right side is the ignorantly affected side with my left leg (calf muscle) feeling often like someone has just punched out a charley horse. The pain is incredible with the stiffness in my right shoulder region, neck and side of face. I can experience cramping in my arms, wrists, fingers, etc. There are times that I will have something in my hands and then simply drop it or toss it! It is as if my hand can not coordinate or grasp the object. The left side of my face is also appears as if I have a mild case of palsy. When I am really in the throws of an 'episode' or very tired my eyebrow and eye lid actually droops - I can turn from side to side and my right side will look animated like a healthy woman and my left will look droopy.
Okay, I will stop for now. Please excuse typing errors and any fragmented sentences - today was my first iron infusion and that along with my medications for the Isaac's and the gastro dysmotility...I am exhausted, sedated, headachy, stiff and sick.
Oh, one last thing, with the Morvan's I wake up during surgeries and fail to stay under numb during dental procedures. This past 3/30/07 I had a colonoscopy and endoscope - by the time they reached my stomach I was present of mind to feel the entire procedure as they removed the stomach polyps and shot botox into the areas to stop bleeding. This is not the first surgery or medical procedure I was woken up in. I also have Trigeminal Neuralgia (TGM) and due to that and the amounts of vomiting from the gastroparesis I have had to have all of my upper teeth pulled save for the front ones.
Yes, I have gasping when I become excited (involved) during conversation, and night time is the most painful time to sleep. It seems to be when the muscles in my legs and lower back cramp/atrophy the most. I take very small doses of Keppra, Nurontin and will begin Topomax for treatment of the Isaac's/NMT. I have tried several other combinations or chemical cocktails with each medication being in way below therapeutic doses. Are any of you with Isaac's/NMT taking lower doses than usually prescribed? Do you have sensitivity to chemicals?
Can I ask at what age were you diagnosed?
- Taunna
May I ask what a MUSK test is done for?
I just posted my 'medical' story yesterday having found a group of people dealing with Isaac's Syndrome. It took years for me to be diagnosed and for the first several years continued to chase either a 'probable' diagnosis of MS and severe Fribromyalgia ... they had no answer to hand me and assumed that if I was seeing 'other specialists' that those doctors would 'fill in' the blanks. I reach out to your frustration and even after being given 'official' diagnosis I find that they are not the final and official end of the line answer that I was hoping for. Once you have been diagnosed with something rare or idopathic in nature you find that entire new can of worms has been opened.
There are so many rare diseases, disorders and syndromes that it is so easy to get your medical issur over looked because either the doctor does not listen and look or they simply do not know enough. I have easily seen over 24 doctors since 1998 and I live in a state that does not have a notable research medical hospital. Are you close to a Mayo Clinic or recognized research medical facility? Would your insurance cover an inpatient stay that would offer a wrap-around review of your medical issues? It sure would have saved me time, money and sanity. It still would.
Taunna
Seattle, WA
Hi Taunna
The answer to your first question. A MUSK test is to check for abnormal antibody levels, it is used to dianose Myastia Gravis. Which I donot have.
I do have a facility equal to the Mayo Clinic close by. I am going to John Hopkins at this point. I am seeing a doctor of investigative medicen. Hopefully she can come up with an answer. My insurance will by for in hospital stays, if needed I will do that for the speciality testing.
I know once I have diagonese that doen't mean everything is done, for with rare diseases regular doctors donot again with them. It's just more for my state of mind.
I have only been dealing with this for about three years now, which seems like forever!!! As time goes by I am doing less and less before i get tired or to sore to do anything.
Thats all for now
KVK-Beale
Taunna,
I have not been officially diagnosed. My symptoms just line up with Isaacs's pretty closely. I am waiting for an appt. at Duke right now with the neuromuscular specialist. I also have anemia, but it is due to very heavy cycles. Yet, on the flip side of that, I have platelets on the high side which can be caused by anemia. I also have had some suspicion of a problem with my spleen. These all tie in together.
You have a lot going on. In addition, I have asthma, allergies and sinus problems which cause me a whole host of new problems.
This has been going on for twelve years. I just want a diagnosis. I have been afraid of having so many horrible things. Sometimes I am still worried.
Can you exercise at all? I love yoga and it has helped me sooo much. There are some low key positions in yoga and there is also physical therapy type yoga. You should see if there are any classes in your area (gyms, etc..).
What medicines do you take now? If you answered in your previous email, I apologize.
I admire your tenacity and inner strength. I know how hard this can be and how frustrating it is for all who suffer.
You can read my previous emails on this chain of discussion if you want more background.
Warmly,
Lynn
Tuanna
I have not been officially diagnosed yet either. I know what you are going through in this matter. It gets very frustrating sometimes. All test results come back normal, so they run more tests on you. So times I feel like a human porkupin with as many times as I have had blood drawn, x-rays or electrial stimulation tests done. I am still hoping to get an answer soon. It's only been 2 3/4 years so far, a short amount of time compaired to a lot of you. Like you all I want is a diagnosees. This way I know what I'm fighting against. I am able to due a little exercising on the stationary bike onlly. For me this is a big let down I use to teach 3-4 aerobic classes a day, it was one of the worse things in my life when I had to give up teaching, for the pain was to intense and I was affaid of falling, because of lack of balance.
It is diffenetly nice to know there are other people going through the samethings I am.
Be taking to you again soon
Kare
I just finnished a four week course of Infusions of Iron. I understand that my iron was so depleted that they could only explain it as a result of internal bleeding ... but there was no actual cause they could find! I am also on prescription vitamin D at 50,000 units twice a week.
The severe diffused gatro dysmotility really presents it's own problems aside from those from the Neuromyatonia. I did not test positive for the calcium channel serum tests but all other tests and previous medical hystory pointed to Isaac's along with the myoclonic jerks and the type of epilepsy that I have. I have wondered along the way if I should be further tested for the MG - usure how to spell it but would also explain many symptoms.
I also have an extremely sensitve chemistry panel and sensitivity to chemicals. This increased as the paralysis set into my digestive system and the stiffening and muscle pains increased. However, I have never been able to take the recommended full or starting dose of any medication and as a teenager it became harder to take medications. In the ER it is a real challenge to explain that I must take a childs dose and not an adult dose of what they are trying to inject or IV into my body.
I also have an elevated B12 that is just a complete puzzle to my hemotologist and I only WISH that I had the energy that B12 is supposed to give you.
As for medication, since I did not test positive for the current calcuim channel serum tests, they do not have a protocol set in place. The medication is sort of a hit and miss cocktail of sorts. A combination of medications that are supposed to work on relaxing muscle spasms. The list of medications I have tried is longer than what I am currently taking. It changes ever few months. There has been little success at this point.
Has anyone with Isaac's been tested for a particular type of Cancer or had the 'talk' with the doctor about the link between Neuromyatonia and several forms of cancer? The first thing my doctor did was send me for an MRI of my upper chest to check for lumps in my lungs. I apologize, but I have been trying 12.5 mg of Topomax in addition to my other medications - apparently there has been recent research of this medication in relation to calcium channels and photoconvulsive epilepsy and my doctor was hoping it would offer relief from some pain.
Oh yes, that is what I wanted to ask of the inviduals posting here:
Do you experience pain in your body from the nerve and/or muscle pain?
Do you find one side of your body is more effected or out of sync from the other?
Do you have epelipsy or myoclonic jerks or family hystery of neuromyatonia?
Were your symptoms a sudden onset, gradual since childhood with an incrase in severity?
Do those with diagnosed Isaac's also have idopathic gastro problems and/or blood panels?
Thanks,
~ Taunna
Add to the discussion