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.