Undiagnosed rare problems.

Posted by lineage @lineage, Aug 28, 2020

I have an issue that started back in March 2020. I will try to be as detailed as possible but some information may have nothing to do with my symptoms. At this point I do not know what is or is not important information as I have repeated my story to over 15 health care professionals to include urologists, neurologists, neurosurgeons, pain specialists, pelvic specialists etc with no diagnosis.

I am a spinal pain patient with a fusion of S1 through L4. I have been this way since 2006. I have been under pain management since then and up until March was only on 5mg Methadone every 6 hours and doing well.

In March I had a selective nerve root injection on my left side S1/L5. 2 days after I started having slight pain symptoms on the right side of my penis. I saw my PCM 4 days later who ran a STI and UTI test, all negative. Started on bactrim just to be safe. 3 days later the pain shot through the roof to a 10 out of 10. I had never felt pain like this before.

Went to 1st ER and was pretty much turned away after they checked for bladder obstruction. Immediately went to 2nd ER where they ran a bunch of tests. CT scan, UTI/STI test, blood work etc. All came back normal. Was given IV antibiotics, morphine and toredol. Nothing worked. They gave a diagnosis of urethritis. Went home then 6 hours later went back to ER. Pain had not subsided at all. Could not eat, sleep… this was pure torture.

The pain was on my right side penis in the corpus cavernosum right where the glans meets the shaft about the diameter of a quarter. It was cutting, stabbing pain that radiated out a bit. It was constant no matter what I did, nsaids, methadone, heat, cold, rest… nothing could alleviate the pain. I was also now urinating ever 30 minutes to an hour about 3 to 4 ounces. No pain anywhere else. No burning in urethra or pain in urethra.

Third ER just shot me with morphine again and reffered me to urology. They also put me on doxycycline. This was a Sunday so I had to wait till monday to see urology. Even with this amount of pain they did not call the on-call urologist. Morphine, once again, did nothing.

Next day urology emergency visit. He did an exam of the genitals and surrounding area to include prostate. He could not find anything wrong. Once again did a UTI/STI test… once again negative. No diagnosis and was told this is neurological. Reffered to neurosurgery (not sure why).

Following week saw neurosurgeon who verified the symptoms are neurological in nature but again stated he had never seen anything like this before. By the time I saw him symptoms changed. Pain was now in right penis still but also right side bladder, right inguinal crease, right foot. Bladder was very pin pointed pain only in one area. Inguinal crease was very sore and radiated. Right foot was only in my big toe and was stabbing pain intermittently. Before all this I had never had symptoms on right side. Neurosurgeon ordered MRI of lumbosacral.

While all this was occurring I went back to my pain management doctor. He stated the injection could have possibly caused this but it would be a 1st for him as he had never seen this before. He ordered an MRI of lumbar spine.

Both MRIs showed everything as normal. Only thing noted was a small cyst on left side S1 L5 near the nerve root but with no impingement.

Neurosurgeon was at a loss so he sent me to neurology. Neurologist did a neurological assessment and stated my reflexes of arms and legs were extremely exaggerated. He also did a test on the bottom og my right foot that cause my toe to go straight up ( forget the name of this test). He stated these were all signs of spinal cord impingement and ordered a cervical MRI. He also stated in his 25 years he has only seen something similar to this once. A man had one sided numbness (but no pain) of penis and right foot. Turned out to be cervical cord impingement.

MRI showed minor to moderate compression at C3 C4 C5. Neurologist sends me back to neurosurgeon with no other testing. Believes compression is root of all my problems. Worth noting I have no neck pain or symptoms in upper body e.g. arm pain, tingling etc. aside from reflexes exaggerated.

1st neurosurgeon replaced with 2nd neurosurgeon who is more adept at cervical issues. New neurosurgeon believes surgery could be good but also does not believe cervical issues has nothing to do with my pelvic and foot symptoms. No further testing and decides to send me to a neurosurgeon at MUSC Charleston.

MUSC neurosurgeon Immediately stated he could not understand why I was sent to him. He has no knowledge or training in my symptoms. Stated he could not help. Not even a guess as to what was occurring. He did state he could do cervical surgery but does not believe this has anything to do with my symptoms. Sent away with no real answers.

Spoke to 2nd neurosurgeon and Neurologist, both said they are at a loss.

Spoke to PCM about pelvic dysfunction specialist, reffered to pelvic specialist/physical therapist.

Pelvic specialist poked, prodded, bent etc and could not replicate the symptoms. Does not believe this to be pudendal neuralgia. She has never seen this before.

This is where I am now. I did not add in any doctors I saw that had no answers as nothing they did or said would help with my story.

The very first ER visits I was given so many antibiotics and Nsaids it caused tremendous pain in my stomach. This led to yet another ER visit for intense stomach pain and burning. Once again this pain was at a level I had not experienced before. ER did scans and found something that concerned them near my appendix. Called specialist in who tested me for appendicitis. This led to a colonoscopy which turned out to be nothing. Everything looked healthy. I have been recovering from this stomach pain ever since.

This whole ordeal has been a nightmare. After months of doctors and specialist I do not know what this is. We know a few things it is not which is good but it is hard to believe what I have is so rare that nobody can put a name to it which means no treatment. I know this story is long but I hope somebody can help me. I would not wish this on anyone. I feel as though most of these doctors did not truly do their due diligence and just passed me off as soon as they could.

To this point I am still only on methadone. Pain medication doesn’t help with this pain so no point in asking for or taking anything else. Tried lyrica and it did not do anything. Gabapentin causes myoclonic jerks in my legs.

At this point the penis pain is intermittent and usually does not exceed a 3 of 10. The right side bladder pain is minimal but still there. I still urinate frequently. Right foot still has burning pains on all the toes on top. Inguinal crease still is sore and feels tight all the time.
Strangely enough there are times when I am laying down and I put pressure on my sacrum area and it can cause the pain symptoms to elevate. If I get up it often will go back down.

These minimal symptoms are very new though. Past 2 weeks. It has taken months of constant elevated symptoms to get to this point. I have researched so much and can not find anything that can put a name to what I am experiencing.

I would like to see the article from this past March on PRP injections. Does May Clinic do these injections at this time?

Ken Groninga

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@kengroninga

I would like to see the article from this past March on PRP injections. Does May Clinic do these injections at this time?

Ken Groninga

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The article was in the link of the previous post.

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Desperate and undiagnosed

Back in Oct 2013 I started experiencing muscle twitching in my left leg. This went on for a few weeks until I went to my Dr. From there the journey began getting Mari's of the back, brain, along with all kinds of blood work and EMG's. All came back normal. My muscles started to atrophy. I researched everything that could have caused this. Even genetics and tests for Amyloidosis. Everything normal.

When you know there's something wrong and you start to see yourself lose muscle mass for no reason at all, you cannot accept an answer of – everything is fine, just go on with your life.

I had a muscle biopsy done that did show mild and chronic denervation, but no one could determine why. I know have brain fog and difficulty with some pronunciation. I went to Mayo in Jacksonville FL and in Minnesota trying to get a workup that would show something. I have not been successful. No one can figure anything out. I applied for the undiagnosed disease network, but as you can imaging, was declined. I have not given up, but feel as though everyone is missing something that when found out will almost be like a no brained for the smart Docs at Mayo.

I did purchase some medicine over the internet prior to my symptoms and feel as though I may have ingested poison. I still have a few tablets that I kept, just in case I can ever get someone at the Mayo lab to look at. Who knows, mayne I'll get lucky. If they do find out it's poison, then maybe I can start some sort of chelation treatment.

I guess I am reaching out here in hope that maybe someone else has experienced muscle weakness and atrophy, had a clear EMG'S, and maybe got there condition figured out and treated. Please Mayo. Help me!

REPLY
@undiagnosed2013

Desperate and undiagnosed

Back in Oct 2013 I started experiencing muscle twitching in my left leg. This went on for a few weeks until I went to my Dr. From there the journey began getting Mari's of the back, brain, along with all kinds of blood work and EMG's. All came back normal. My muscles started to atrophy. I researched everything that could have caused this. Even genetics and tests for Amyloidosis. Everything normal.

When you know there's something wrong and you start to see yourself lose muscle mass for no reason at all, you cannot accept an answer of – everything is fine, just go on with your life.

I had a muscle biopsy done that did show mild and chronic denervation, but no one could determine why. I know have brain fog and difficulty with some pronunciation. I went to Mayo in Jacksonville FL and in Minnesota trying to get a workup that would show something. I have not been successful. No one can figure anything out. I applied for the undiagnosed disease network, but as you can imaging, was declined. I have not given up, but feel as though everyone is missing something that when found out will almost be like a no brained for the smart Docs at Mayo.

I did purchase some medicine over the internet prior to my symptoms and feel as though I may have ingested poison. I still have a few tablets that I kept, just in case I can ever get someone at the Mayo lab to look at. Who knows, mayne I'll get lucky. If they do find out it's poison, then maybe I can start some sort of chelation treatment.

I guess I am reaching out here in hope that maybe someone else has experienced muscle weakness and atrophy, had a clear EMG'S, and maybe got there condition figured out and treated. Please Mayo. Help me!

Jump to this post

@undiagnosed2013 Welcome to Mayo Clinic Connect, a place to give and get support.

It sounds like you are seeking proper medical care with no answers yet. Having muscle atrophy with no known cause must be terrifying.

You'll notice that I moved your question to a previous discussion. I did this so you could connect with members like @kengroninga @rivergirl8243 @bustrbrwn22 @lineage @jenniferhunter @jakedduck1 @wisco50 that have discussed this topic before.

May I ask if you have any next steps planned?

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@erikas

@undiagnosed2013 Welcome to Mayo Clinic Connect, a place to give and get support.

It sounds like you are seeking proper medical care with no answers yet. Having muscle atrophy with no known cause must be terrifying.

You'll notice that I moved your question to a previous discussion. I did this so you could connect with members like @kengroninga @rivergirl8243 @bustrbrwn22 @lineage @jenniferhunter @jakedduck1 @wisco50 that have discussed this topic before.

May I ask if you have any next steps planned?

Jump to this post

No, since I really don't know who to turn to. I have already been to Mayo, and I just not sure where to go? I loved the Mayo experience, but I was pushed to a Neuro workup, which seems like a no brainer, but I have maintained that the issue is related but not directly to Neuro. I asked if I could find out, even pay for, if the lab could examine the pills I bought over the internet to see if I was poisoned, but was told that no one knew of anyone at Mayo to do that. So, I am trying to just do the best I can. But, it's heartbreaking to know that if I were a VIP, that that would have been done.

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@undiagnosed2013

Desperate and undiagnosed

Back in Oct 2013 I started experiencing muscle twitching in my left leg. This went on for a few weeks until I went to my Dr. From there the journey began getting Mari's of the back, brain, along with all kinds of blood work and EMG's. All came back normal. My muscles started to atrophy. I researched everything that could have caused this. Even genetics and tests for Amyloidosis. Everything normal.

When you know there's something wrong and you start to see yourself lose muscle mass for no reason at all, you cannot accept an answer of – everything is fine, just go on with your life.

I had a muscle biopsy done that did show mild and chronic denervation, but no one could determine why. I know have brain fog and difficulty with some pronunciation. I went to Mayo in Jacksonville FL and in Minnesota trying to get a workup that would show something. I have not been successful. No one can figure anything out. I applied for the undiagnosed disease network, but as you can imaging, was declined. I have not given up, but feel as though everyone is missing something that when found out will almost be like a no brained for the smart Docs at Mayo.

I did purchase some medicine over the internet prior to my symptoms and feel as though I may have ingested poison. I still have a few tablets that I kept, just in case I can ever get someone at the Mayo lab to look at. Who knows, mayne I'll get lucky. If they do find out it's poison, then maybe I can start some sort of chelation treatment.

I guess I am reaching out here in hope that maybe someone else has experienced muscle weakness and atrophy, had a clear EMG'S, and maybe got there condition figured out and treated. Please Mayo. Help me!

Jump to this post

@undiagnosed2013 Seems to me that you, like me and millions of others around the world, especially in the USA, are a victim of a long-lived form of hatefulness, that of "If I cannot diagnose your problem, you do not deserve to live." I have lost two careers, nearly my sanity, and nearly my family as a result of this cycle of hatred. Now, I don't have an easy answer for you, but when my legs started twitching like that, and then turned black around the lower calf to the ankle, I was in real pain. Mine turned out to be Gelsolin, a form of Amyloidosis. But I had already started treating my burning facial purpura with Gold Bond Psoriasis Relief Cream with Aspirin, and with Noxema, trading off every few hours. It has worked like a charm. So I thought, "What the Heck can I lose?" So I started treating my legs with that, as well. Now my legs no longer hurt and twitch, but they still have the black-purple bands of purpura around them, from the calves to the ankles. And I still get the purpura on my toes and around my eyes, and the rest of the symptoms are still there. Now, if I were in your shoes, I would go to the human phenotype ontology (www.hpo.org/ and enter your best guess or our symptoms, and see what they come up with. And ask your doc to do the same with https://www.omim.org/entry/ and put in something like "twitching leg" or such. Then follow the trail. Or, have a good genecist help you find the problem. There are many such sights, but a start with some place like Ambry or Sequencing, or Nebula would be helpful. Sad that you will have to take control for yourself in this matter, but it will be worth it just to know how to do things like this. Slowly but surely, we will move modern medical practice to the 21st century.

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