[Edward!]

My impairments began in September of 2007. Started feeling lightheaded and swimmy like I was going to pass out. Could no longer exercise. Legs heavy, along with numbness and tingling sensation in both lower legs. I had a full cardiac workup and it was discovered that I had a slow resting heart rate. So, sick sinus syndrome was thought to be appropriate due to my symptoms of lightheadedness, dizziness, exercise intolerance, extreme fatigue, and pre-syncope. I spent a period of time confined to bed. Here I was at the time this 36 yo male with probable sick sinus syndrome manifest as chronic continuous sinus bradycardia heart rates in 30s but predominantly in the mid/upper 40s. I had visited 3 of the nation’s elite Electrophysiologist who could not agree that sinus node disease is ruled out as the cause of symptoms. Desperate and worried and just recently married, I felt the need to try to see if the pacemaker would work. Unfortunately, I did not get the results that I would have liked. Yes, it abolished the bradycardia but I still suffer from the symptoms outlined above.

Post pacemaker implant, I was then evaluated by an Autonomic Dysfunction Center back in 2009. Again, my main symptoms were fatigue, and a constant sensation of lightheadedness and mental clouding that is worse on standing and improves immediately by lying down. Even though this pattern would be typical of orthostatic hypotension, it has never been documented, and I have monitored my BP over the years and there is no correlation between symptoms of lightheadedness and either hypotension or tachycardia. In fact, I have hypertension and elevated norepi levels on standing. All of my testing came back normal and autonomic nerve fibers intact.

As my neurological symptoms persisted, in 2011 I began to notice that I was not sweating during the hot summer months like I should. I was referred for another neurological exam. 2011 and 2012, both epidermal nerve fiber density test done by John Hopkins were normal. The sweat analysis in 2011 did show reduced sweat glands at all sites suggesting a neuropathic process affecting autonomic nerve fibers. However, the sweat analysis in 2012 was within normal range where sweat glands were identified. Also, I had EMG’s completed in 2011 and 2012 and they were normal. My doctor was not convinced with these results and felt one area that needed further exploring was amyloidosis. Initial fat pad biopsy came back positive for amyloid; however, after being referred to Boston University Amyloid Center for evaluation, repeated fat pad biopsies that came back negative, and mass spectrometry done at Mayo Medical Lab it was determined by three different facilities at the time that I did not have amyloid.

Now, it is 2014 and my health is tanking. Whatever is going on it is trying to peak it’s nose out and finally some of my testing is showing change. I had another EMG and it showed amplitudes in my legs dropped half of what they were in 2012. That prompted a spinal tap, which came back normal. Then, at the end of the year all the amplitudes continued to drop in my legs and now my arms. Now, my doctor gives me the diagnosis of idiopathic sensorimotor polyneuropathy and idiopathic autonomic neuropathy. My symptoms continue to take on a new meaning. Widespread paresthesias, muscle weakness in thighs and arms, nausea, abdominal cramps, profound lightheadedness, and weird irregular heart beats. Then, in July 2014 I had another skin biopsy sent to John Hopkins and they compared it to the other biopsies back in 2011 and 2012. I talked to one of the doctor’s in Cutaneous Lab and he said that I definitely have a neuropathic process going on because the nerve fibers have dropped from before. Finally, it is confirmed that I have small fiber neuropathy. After years of research, he tells me that it is rare not to find a cause. In fact, John Hopkins data reports that 85% of people with SFN find a cause. Great! I take this back to my neurologist and we did a bunch of blood work which all came back normal, including another round of autonomic testing that came normal for now.

I came to this website a couple weeks ago and found LizaJane’s helpful excel spreadsheets and looked back at what I had done and what we have not entertained. The only thing that has not been done was CMT profile, immunocompetency, and sensory-motor neuropathy complete antibody panel. Review this with my doc, we did retest for Lupus and again looked at heavy and light chains in urine and blood. Both came back normal. Last week I had a sural nerve biopsy hoping it would show something. It showed no histopathologic change. The large diameter myelinated axons were no normal. No onion bulb or regenerative clusters or inflammatory infiltrates. Large arteries normal. No inflammation. No increase in endoneurial tissue. Negative for amyloid. It did show that some of the small and medium diameter thinly myelinated axons were present but that just confirms what was showed on my EMG. The only one that I didn’t understand was many thicked walled small vessels were present outside the nerve in connective tissue. Today, I was informed that basically it is just symptom relief from here. That cases like this are usually mutations that have taken this course and we have no way of testing to find out what is causing this sort of mutation. Here I am 42 year old husband of two young children and just numb and feel total despair.

[Kitt]

Welcome Edward!

[baba222]

Originally Posted by Edward!

My impairments began in September of 2007. Started feeling lightheaded and swimmy like I was going to pass out. Could no longer exercise. Legs heavy, along with numbness and tingling sensation in both lower legs. I had a full cardiac workup and it was discovered that I had a slow resting heart rate. So, sick sinus syndrome was thought to be appropriate due to my symptoms of lightheadedness, dizziness, exercise intolerance, extreme fatigue, and pre-syncope. I spent a period of time confined to bed. Here I was at the time this 36 yo male with probable sick sinus syndrome manifest as chronic continuous sinus bradycardia heart rates in 30s but predominantly in the mid/upper 40s. I had visited 3 of the nation’s elite Electrophysiologist who could not agree that sinus node disease is ruled out as the cause of symptoms. Desperate and worried and just recently married, I felt the need to try to see if the pacemaker would work. Unfortunately, I did not get the results that I would have liked. Yes, it abolished the bradycardia but I still suffer from the symptoms outlined above.

Post pacemaker implant, I was then evaluated by an Autonomic Dysfunction Center back in 2009. Again, my main symptoms were fatigue, and a constant sensation of lightheadedness and mental clouding that is worse on standing and improves immediately by lying down. Even though this pattern would be typical of orthostatic hypotension, it has never been documented, and I have monitored my BP over the years and there is no correlation between symptoms of lightheadedness and either hypotension or tachycardia. In fact, I have hypertension and elevated norepi levels on standing. All of my testing came back normal and autonomic nerve fibers intact.

As my neurological symptoms persisted, in 2011 I began to notice that I was not sweating during the hot summer months like I should. I was referred for another neurological exam. 2011 and 2012, both epidermal nerve fiber density test done by John Hopkins were normal. The sweat analysis in 2011 did show reduced sweat glands at all sites suggesting a neuropathic process affecting autonomic nerve fibers. However, the sweat analysis in 2012 was within normal range where sweat glands were identified. Also, I had EMG’s completed in 2011 and 2012 and they were normal. My doctor was not convinced with these results and felt one area that needed further exploring was amyloidosis. Initial fat pad biopsy came back positive for amyloid; however, after being referred to Boston University Amyloid Center for evaluation, repeated fat pad biopsies that came back negative, and mass spectrometry done at Mayo Medical Lab it was determined by three different facilities at the time that I did not have amyloid.

Now, it is 2014 and my health is tanking. Whatever is going on it is trying to peak it’s nose out and finally some of my testing is showing change. I had another EMG and it showed amplitudes in my legs dropped half of what they were in 2012. That prompted a spinal tap, which came back normal. Then, at the end of the year all the amplitudes continued to drop in my legs and now my arms. Now, my doctor gives me the diagnosis of idiopathic sensorimotor polyneuropathy and idiopathic autonomic neuropathy. My symptoms continue to take on a new meaning. Widespread paresthesias, muscle weakness in thighs and arms, nausea, abdominal cramps, profound lightheadedness, and weird irregular heart beats. Then, in July 2014 I had another skin biopsy sent to John Hopkins and they compared it to the other biopsies back in 2011 and 2012. I talked to one of the doctor’s in Cutaneous Lab and he said that I definitely have a neuropathic process going on because the nerve fibers have dropped from before. Finally, it is confirmed that I have small fiber neuropathy. After years of research, he tells me that it is rare not to find a cause. In fact, John Hopkins data reports that 85% of people with SFN find a cause. Great! I take this back to my neurologist and we did a bunch of blood work which all came back normal, including another round of autonomic testing that came normal for now.

I came to this website a couple weeks ago and found LizaJane’s helpful excel spreadsheets and looked back at what I had done and what we have not entertained. The only thing that has not been done was CMT profile, immunocompetency, and sensory-motor neuropathy complete antibody panel. Review this with my doc, we did retest for Lupus and again looked at heavy and light chains in urine and blood. Both came back normal. Last week I had a sural nerve biopsy hoping it would show something. It showed no histopathologic change. The large diameter myelinated axons were no normal. No onion bulb or regenerative clusters or inflammatory infiltrates. Large arteries normal. No inflammation. No increase in endoneurial tissue. Negative for amyloid. It did show that some of the small and medium diameter thinly myelinated axons were present but that just confirms what was showed on my EMG. The only one that I didn’t understand was many thicked walled small vessels were present outside the nerve in connective tissue. Today, I was informed that basically it is just symptom relief from here. That cases like this are usually mutations that have taken this course and we have no way of testing to find out what is causing this sort of mutation. Here I am 42 year old husband of two young children and just numb and feel total despair.

Hello Edward,

So sorry for all your trials and investigations. I also went to several famous places too in a short time, and with the exception of efficiency, did not get better treatment. So I am now in the alternative realm: acupuncture, hyperbaric, etc. Due to the folks here, I can say that r-lipoic acid has helped me dial down some of the pain.

For the sake of your entire family, I might respectfully suggest you sign up for 23 and me. You may have already thought of this. It is a decent bang for the money even though you have to wade through the health information now that the FDA, big pharma, and AMA got involved.

I just recently signed up and await my full results. I am not affiliated with them in any way. I am hoping that I might get some idea of why I have idiopathic very painful small fiber sensory neuropathy that it sensory and more recently added mechanical static allodynia. It may be from surgeries, antibiotics, and procedures that preceded my symptoms.

There are some veterans here who are WONDERFUL. I am just a newbie in this territory.

Thinking of you and your family and hope some revealing starts happening for you.

[Susanne C.]

You have been through an awful lot, and it sounds like there is more than one thing going on. There may not be one process causing all your symptoms, but co-morbid conditions.
You mentioned that CMT has not been tested for. The tests are inconclusive as while they are instantly improving they do not include all the mutations, and many carry an 85% accuracy rating. Does anyone in your family have neuropathy symptoms? Sometimes CMT only affects people as they get older but some types, like mine, are present in childhood and steadily worsen. I had poor coordination as a child, was unable to run or play sports, and have always walked funny. Numbness started in my toes in my early 30's. I believe CMT is under diagnosed although it should have been caught with all the testing you have had.
Are your reflexes normal?

[Kitt]

Originally Posted by Edward!

My impairments began in September of 2007. Started feeling lightheaded and swimmy like I was going to pass out. Could no longer exercise. Legs heavy, along with numbness and tingling sensation in both lower legs. I had a full cardiac workup and it was discovered that I had a slow resting heart rate. So, sick sinus syndrome was thought to be appropriate due to my symptoms of lightheadedness, dizziness, exercise intolerance, extreme fatigue, and pre-syncope. I spent a period of time confined to bed. Here I was at the time this 36 yo male with probable sick sinus syndrome manifest as chronic continuous sinus bradycardia heart rates in 30s but predominantly in the mid/upper 40s. I had visited 3 of the nation’s elite Electrophysiologist who could not agree that sinus node disease is ruled out as the cause of symptoms. Desperate and worried and just recently married, I felt the need to try to see if the pacemaker would work. Unfortunately, I did not get the results that I would have liked. Yes, it abolished the bradycardia but I still suffer from the symptoms outlined above.

Post pacemaker implant, I was then evaluated by an Autonomic Dysfunction Center back in 2009. Again, my main symptoms were fatigue, and a constant sensation of lightheadedness and mental clouding that is worse on standing and improves immediately by lying down. Even though this pattern would be typical of orthostatic hypotension, it has never been documented, and I have monitored my BP over the years and there is no correlation between symptoms of lightheadedness and either hypotension or tachycardia. In fact, I have hypertension and elevated norepi levels on standing. All of my testing came back normal and autonomic nerve fibers intact.

As my neurological symptoms persisted, in 2011 I began to notice that I was not sweating during the hot summer months like I should. I was referred for another neurological exam. 2011 and 2012, both epidermal nerve fiber density test done by John Hopkins were normal. The sweat analysis in 2011 did show reduced sweat glands at all sites suggesting a neuropathic process affecting autonomic nerve fibers. However, the sweat analysis in 2012 was within normal range where sweat glands were identified. Also, I had EMG’s completed in 2011 and 2012 and they were normal. My doctor was not convinced with these results and felt one area that needed further exploring was amyloidosis. Initial fat pad biopsy came back positive for amyloid; however, after being referred to Boston University Amyloid Center for evaluation, repeated fat pad biopsies that came back negative, and mass spectrometry done at Mayo Medical Lab it was determined by three different facilities at the time that I did not have amyloid.

Now, it is 2014 and my health is tanking. Whatever is going on it is trying to peak it’s nose out and finally some of my testing is showing change. I had another EMG and it showed amplitudes in my legs dropped half of what they were in 2012. That prompted a spinal tap, which came back normal. Then, at the end of the year all the amplitudes continued to drop in my legs and now my arms. Now, my doctor gives me the diagnosis of idiopathic sensorimotor polyneuropathy and idiopathic autonomic neuropathy. My symptoms continue to take on a new meaning. Widespread paresthesias, muscle weakness in thighs and arms, nausea, abdominal cramps, profound lightheadedness, and weird irregular heart beats. Then, in July 2014 I had another skin biopsy sent to John Hopkins and they compared it to the other biopsies back in 2011 and 2012. I talked to one of the doctor’s in Cutaneous Lab and he said that I definitely have a neuropathic process going on because the nerve fibers have dropped from before. Finally, it is confirmed that I have small fiber neuropathy. After years of research, he tells me that it is rare not to find a cause. In fact, John Hopkins data reports that 85% of people with SFN find a cause. Great! I take this back to my neurologist and we did a bunch of blood work which all came back normal, including another round of autonomic testing that came normal for now.

I came to this website a couple weeks ago and found LizaJane’s helpful excel spreadsheets and looked back at what I had done and what we have not entertained. The only thing that has not been done was CMT profile, immunocompetency, and sensory-motor neuropathy complete antibody panel. Review this with my doc, we did retest for Lupus and again looked at heavy and light chains in urine and blood. Both came back normal. Last week I had a sural nerve biopsy hoping it would show something. It showed no histopathologic change. The large diameter myelinated axons were no normal. No onion bulb or regenerative clusters or inflammatory infiltrates. Large arteries normal. No inflammation. No increase in endoneurial tissue. Negative for amyloid. It did show that some of the small and medium diameter thinly myelinated axons were present but that just confirms what was showed on my EMG. The only one that I didn’t understand was many thicked walled small vessels were present outside the nerve in connective tissue. Today, I was informed that basically it is just symptom relief from here. That cases like this are usually mutations that have taken this course and we have no way of testing to find out what is causing this sort of mutation. Here I am 42 year old husband of two young children and just numb and feel total despair.

If indeed you may have CMT the DNA testing results are accurate if you have one of the more common types and subtypes. There are around 70 different types that they have identified so far with no end in sight. www.athenadiagnostics.com is a place for DNA blood testing. It is very expensive depending on how many types they have to test for. Even if it is inconclusive you still could have CMT.

Anyone in your family with symptoms? You can be young, old, or inbetween and have CMT. Or you might never have any noticeable symptoms but still could have CMT. Also, CMT varies greatly even within the same family.

Hope you find an answer.

[KnowNothingJon]

Edward,

On the cusp of 41, two children under 10 and PN to saddle all this.

I am unsure if you have tried diet modification or vitamins, but those are two avènues that may help you.

Wishing you well,

Jon

[Edward!]

Sorry for the delayed response. Very kind of you to respond. I have not been not feeling well and dealing with new symptoms. New symptoms can be nerve racking and bothersome and leave you with an unsure feeling of what the heck is going on now. My blood pressures have been dropping when upright, along with terrible lightheadedness. In addition, I have been nauseated for a couple months and finally got someone to do something once it progressed to vomiting over the weekend. I have not eaten since yesterday at 4pm and I still feel like food is caught in my esophagus and a rock is sitting in my upper abdomen. I am aware this could be progression of my autonomic neuropathy and gastroparesis. I got an order for some Zofran and Upper GI series this week. My own intuition tells me the AN is getting worse and redefining how it is going to wreck havoc on my body. I just pray and hope that even if I don’t have the best quality of life just keep me around so I be there with my wife of 10 years and help raise to the best of my ability our 2 year and 5 year old.

Jon: This past month I have tried very plain foods but I think low fiber, small frequent meals is coming my way soon. I have not researched or gone down the vitamin avenue but one area that I have been interested in investigating. Thanks for advice.

Baba222
I checked the website and it states that the health portion is no longer available. What could you do with other data from the genetic testing?

Suzanne C: Yes, I do believe there may be more than one process going on. When the obvious causes are ruled out over and over again..for me I struggle some days of wondering whether or not I even want to know the cause at this point. Especially, when you start getting into and investigating the rare of the rariest. There are disease processes out there that link SFN and autonomic neuropathy together. So, for me coming up empty is pretty depressing. No, my reflexes are abnormal. Absent in the ankle and patellar. Present only with reinforcement in the upper extremities.

Kitt: When I was at Boston University to rule out amyloid I brought them a family tree outlining what was the cause of my past relatives death. There is no link on any side going back three generations of anyone
with PN or PN like symptoms. I am going to mention CMT to my neuro again. Having gone to Mayo, Cleveland, Boston, and my home town is a major medical center destination why someone would not have thought of ruling this out. I don’t have the answer but curious to get an explanation.

Finally, I know this a large repository for PN information. Here is my 2 cents on sural nerve biopsies. On top of everything else, it is 3 weeks post-op sural nerve biopsy. I tried using my recumbent bike for 5 minutes and flared up the nerve pain in the outer portion of my foot that I had to stop immediately. I wake up every night with nerve pain that doesn’t even come close to the widespread paresthias. It is cold out where I live and I can’t even wear shoes because of the pain that I have to wear socks and flip-flops. What a direct hit I look like at times! I keep replaying in my head when my neuro told me that having this done will give us a lot of information that we don’t have. Then, I have it done and some of the small and medium fibers are thining, which we knew from the results of EMG. I gained nothing from the sural nerve biopsy. Just another expense since it is the beginning of the year and I have pay all my deductibles and co-insurances and the residual effect from the biopsy is one more problem that I can add to my list.

Be Well Everyone and if it is cold where you live...Stay warm,
Edward

[beatle]

While you are investigating, you might want to try a few things. Diet and supplements are important. There is a lot of info about both on NT if you run a few searches. I would add that you should limit sugar and alcohol, both are neurotoxins which affect some of us more than others.

You also might want to give the recumbent bike a little break and do more yoga, stretching type of exercise as to not exacerbate symptoms.

Finally, I like that your name is Edward! (with the!)

[janieg]

Edward,

Welcome, but so sorry you find yourself and the you're suffering so badly.

To answer your question about 23andme, they can't themselves provide the health reports any longer, but they provide you with the raw data which you can then upload to other websites that will give you a rough analysis and/or detailed analysis depending on the website and what you're looking for.

Personally, I think it's the best $99 I've ever spent just from a knowledge standpoint. I constantly refer back to the website to browse my raw data for status on specific genes as I read about new things.

Note, however, they don't test your full genome which is still quite pricey. In other words, they may not be able to tell you the status on every gene you might be interested in some point.