destined to be undiagnosed?
 

Ok, it seems that I will never be diagnosed. I have peripheral polyneuropathy for 1.5 years now. I tingle and twitch all the time - particularly at night when I get major body tics or twitches. I have also had every test known to man - spinal tap, MRI, CTScan, blood work of all kinds, lip biopsy, muscle biopsy and now a nerve biopsy. None of these have shown anything except the muscle and nerve biopsy which show demyelination/remyelination and some inflammation but not enough to diagnose vasculitis. Also of course the nerve conduction tests which show problems, getting worse over time. :confused: I have various other symptoms too - dry eyes, exhaustion, trigeminal neuralgia, raynaud's - most of which have led dr's to thinking that it was autoimmune, probably Sjogren's. However, none of the tests for these autoimmune diseases have confirmed it.
So, at some point do those of us who have had every test in the world and nothing conclusive come back have to resign ourselves to never knowing why we have neuropathies? Or do we keep on trying - perhaps repeating all the tests over and over? And if we are never diagnosed, how can we ever know what to expect in the future?

Same Boat maybe
 

Fran,

I absolutely empathize. I keep going back and forth myself and I've been dealing with this for only half the time you have. I actually asked my Neurologist that exact question. When do we get to the point where we just say here's what helps and it doesn't matter what name we put to it? On the one hand I feel that there is power in being able to say I have such and such and to be able to explain somewhat to people what that means. On the other hand, once you have a label it complicates a lot of things- especially with congenital disorders that cannot be fixed. Maybe someone who has suffered for many years without a diagnosis and finally got one can add more insight into how it has/hasn't helped them. Any thoughts?
DL

I am at the point and I am going to one more neuro but onto pain control and treatments which is scary when the why and a lot of the dx is unknown. I met this lady with a daughter and she was so ill could barely leave the house for five years and no one knew why. Anyhow a little different but after countless tests and doctors over the five years she found one who looked out of the box and dx her and now she went on a vacation and everything. For myself I have had many tests repeated and am going to have more. My 2nd emg/nc did show and my first didn't but basically the treatment is the same before and after. About the future. When this first happened I had isolated pain in my left inner ankle/foot/calf I was unable to get out of bed. Then I did make progress with that but the pain is very severe still but since then developed in my right,my severe eye issue and now facial,back. I fear the future but I am working on staying in the moment. I fear pain and issues every day but I try to self talk that I can only do what I can to get through the day in a healthy way mentally and physically. I always joke I can't believe I am not grey from all this stress. Hang in there. I know how frustrating and scary this is.

Ladies - please don't give up. There has got to be someone out there who can tell us what we have and possibly help correct it....


My friend tole me that they recently did a show on Mystery Diagnosis about pheripheral neuropathy. It took 5 years but they finally found out what was wrong. Tons of testing had been done and even to the point of surgery to correct a bulging disk. It turned out that it was a benign brain tumor.

Surely someone can help us!

After countless tests and several doctors I finally gave up on knowing the cause of my PN and resigned myself to idiopathic.

One consolation was the last neurologist I visited, who was in my opinion the best around, in his late 60s, said that when he first started practicing 60% of neuropathy cases were idiopathic, nowdays that number is down to 35%.

Another hope this doctor gave me was that the majority of idiopathic cases disappear on their own with no lasting damage after a maximum of 20 months.
One can only hope...
This being dependent on ever increasing dosages of pain killers is getting old.

sallymader said:

Quote:

Another hope this doctor gave me was that the majority of idiopathic cases disappear on their own with no lasting damage after a maximum of 20 months.

Not sure I understand what this doctor meant but I've been idiopathic for over 20 years and nothing about my diagnosis has disappeared "on it own" or by any means. I still have all the symptoms including moderate to severe pain and the "lasting damage" is that the symptoms and the pain is still very much in evidence long after his reported 20 months. So, just what was s/he (the doc) talking about?

My doctor is tired of me pushing for a diagnosis (one year PN) but I feel very strongly that treating symptoms is not the same as knowing what's wrong and being able to try to get treatment for the disorder. with all the new developments in medicine how would we know what will help if we don't know what is wrong.
And be careful, after my insisting on continuing to hunt for a diagnosis she said I had PN and chronic fatigue syndrome. Wow that was depressing. So I went to the CDC and looked up CFS.
I quickly learned I DO NOT have CFS as you have to have certain symptoms, 4 out of 8 and I have one- fatigue.
I am so disappointed in this doctor but it made my day to find out I don't have CFS.
It sucks that we have to become researchers . Thank god for the internet!

The benefit of knowing the condition, it seems to me, is that you can tell people what you have (instead of just aches and pains and a bunch of weird stuff), every time you see a dr you don't have to go over the whole history - you can just say you have "X", you are more likely to get a treatment that works, and you can have a better sense of your prognosis. I particularly find it difficult at work to explain why I take so much time off for dr's appts, treatment etc - I have never been one of those people who fake being sick and I hate to think that anyone at work may think I am one of those people....
But you are right, with knowing the condition there is the risk that one would have to face the prospect of knowing that you condition cannot be treated, which is a scary prospect!
Fran

YOu don't know anything more about that show, do you? It sounds interesting.....

Fran - I don't have anymore info that what I posted but I am trying to find out when she saw it to see if I can find how more. My friend is traveling and I haven't been able to reach her. In the meantime I can checking the web to see if they show has a website...

I have DDD and also had a botched angio that caused even more nerve damage. For the first few years I was told it was all in my head, but I refused to listen to that even though it meant that it was hard to get treatment.

Then one day they did an MRI and a neurologist sent me for back surgery to fix the back problem. That is when the surgeon came in and said there was not enough wrong to do a surgery. She then asked me if I had ever heard of RSD, I had not.

My doctor didnt think it was that, he leaned more towards the PN from the L1 - S5 nerve damage, but sent me to a vascular surgeon. This doctor looked me over and was fairly thorough, when he says you have RSD. Now mind you no one had told him what the back surgeon had said. So it was RSD. This took over 3 years from injury to knowing. :(

There is no cure, and still some doctors say it is in my head, but at least the knowing is there. So I totally feel for you all without the knowing. You might look into the RSD thing, you never know :)

Fran,
MCTD, Mixed Connective Tissue Disease, has many of the components that you have mentioned, including Sjogren's, Raynauds, Esophagus issues, and neuropathy, myopathy etc, and tends not to have a lot of positive blood tests to show for it. Connective Tissue Disease is a bear to have diagnosed, and treatment options are somewhat limited. After I had run out of options, I was finally diagnosed after review of very old pathology slides combined with new information.

My journey has taken 10 years since the 'very old pathology slide' was taken. That does not count the decade prior to that when 'I told them I was sick'. Hang in, the truth is out there. Oh, one thing, with Connective Tissue Diseases, the 'truth' does change with each doc, each test etc. (We used to call those things, mistakes, white lies or down right pathological lies-but we won't get into any of that.) Your symptoms smack of autoimmune disease and the way it is diagnosed depends on the very fickle science of rheumatology, and the very elusive results of tests we have.

Something will show eventually. I won't tell you to hang in there, you have heard that before. It is difficult, but, take what joy you can from life, and keep looking, you will eventually find that answer. You may PM me if you like...I check in every few days to read. Take care.

I should have explained further:
My idiopathic neuropathy is described as truncal neuropathy. Meaning it only manifests in the trunk of my body. The few documented cases of this type have only lasted from 8 - 20 months and are related to diabetes, which I don't have. My pain is only in the front side of my body from my chest to waist but recently has been creeping down the front of my upper legs.
If you google truncal neuropathy without diabetes you will see how little is known about it.
This why I have hope it may someday just disappear...

I'm With You
 

I am in this boat too. At this point my dr's are like well you have enough history and enough symptoms to treat for X. So we are going to try it, even though we can't find it specifically in any of our tests. I was so relieved to hear that. It has been 1.5 years of being bounced from Dr. to Dr. trying to get a diagnosis. And all anyone would say was: "Well, you have x and y and z symptoms, but not q and s. So we don't want to randomly start treating for some disease or problem we might think you have but aren't sure of." It is so frustrating.

And it is so true that it is really much harder when you don't have a diagnosis, because not only do Dr's and other med. people think it is weird, but when you have to explain to your college why you are out sick, or your work you have to give them a list of symptoms and explain the whole thing just so they don't think you are faking.

It's taken nearly 6yrs for them to find out I have vasculitis,and if I hadn't pushed for a nerve biopsy,I would be none the wiser.My Neuro thinks the vasculitis,kick started the PN my GP thinks it was the other way around (makes no difference to me) To tell the truth,I still think they're missing something.If it takes me another 6yrs to get the final results, so be it..........

I was just dx with SFN after spending almost 1.5 years with the Mayo here. My dx came from the neuro doc I was seeing before Mayo (I went back to him recently). But he just said I had SFN and adjusted my Gabapentin up to 3600mg a day and added 100mg per day of Tramadol. When I asked him why this happened, he said much of the time they cannot pinpoint the reason. My assumption is that due to insurance reimbursements, they don't want to spend the time trying to find out exactly why you have it. The insurance companies probably don't want to spend the cash. I guess I should have insisted on some further testing to find the origin, but I didn't. He stated that it is usually progressive and I have to learn to live with it and come back to see him every year. He worries about loading up more narcotics since I have a very high tolerance to narcotics.

These drs. make me so stinking mad....why won't they take the time to figure out what is wrong with us?? My doc said that there are 100 possible causes for PN and we may never know the cause. So, I said "well let's start testing"... I have paid into an insurance plan for 25 years (this is the first time I have been sick) so it's high time I got my moneys worth.

So, we'll see just how far my doc will go...probably not much farther.

Leslie it might be time for a new Dr........:Scratch-Head:

You are correct, it is time for a new one and I am searching right now. Also, he gave me a referral to Mayo and Hopkins so hopefully I can get into one of those places.

I've gotten that too. I'm like do you mean we will never know as in it is impossible to find out... or just too expensive for the insurance company to cover, and therefor we aren't going to try too too hard. :confused:

It makes you want to tear your hair out after the 10th person has told you this. :rolleyes:

Got to www.lizajane.org (.com?) for a complete list of all
the tests possible for PN.
If the doc doesn't know which tests to order, go down the list.

Mystery Diagnosis
 

Kasobie : "Mystery Diagnosis is a repeating show on one of the Discovery Channels (probably Discovery Health) and each show covers different cases. They are excellent (and I am in a medical field) but they show how frustrating it can be if you have a doctor not highly trained, or too busy, or not humble enough to find you a referral to the right specialist. Go to a major medical center, if possible, one at a medical school, where some of the top professors will be. The solutions are found by the very motivated doctor who spends the extra time to look for the exception. But remember THERE ARE NOT ALWAYS ANSWERS, just in case you don't get one, keep doing your best. k

It is important to understand the "cause"

1) if a toxin --you can remove it from your environment so further damage does not result

2) if autoimmune-- you can be treated with IVIG or immunosuppressants

3) if a drug like statins/fluroquinolone antibiotics you need to stop the drug

4) if due to mito damage (some drugs cause this--AIDs drugs and chemo), acetyl carnitine may reverse it.

5) Gluten intolerance? --go gluten free

6) diabetic, prediabetic?-- diet and treatment may reverse it

7) nutritional deficiencies? --B12, thiamine, omega 3s, etc will reverse it.

8) thyroid disease-- can be treated

9) post viral syndromes

These are just the most common. Hereditary issues also can be present as well as the difficult amyloidosis.