Frustrated and tired, every test came back normal

All I can say is I understand. My right side is affected by mild cerebral palsy which of course meant I had one good side. My NLD SFN of course attacked my left side, so I am living my ultimate nightmare. There are many ways to try and control the pain, from prescription drugs, to supplements, to CBD/THC - the trick is to find what helps you. I have survived two and a half years with various supplements, but my body is getting worse. I caught a virus from my son, and it is like throwing gasoline on a fire.

@kumye, I know it's the pits not knowing the cause of small fiber neuropathy but the truth is even knowing the cause is not going to help you find a cure if that is what you are seeking. There is no cure, only treatments that may or may not help your symptoms. Like Aaron @aaroncush said, the trick is to find what helps you. I think I mentioned this before but the Foundation for Peripheral Neuropathy has a list of treatments including complementary and alternative treatments that would be a good starting place to find something that helps provide relief for your symptoms -- https://www.foundationforpn.org/treatments/.

My tests were all normal, except conduction study. I also have not been given a reason for peripheral neuropathy. When it first started it was just numbness and rapidly became constant burning and loss of strength. Medicines work different for everyone. Gabapentin caused swelling. and didn't help much. I was then put on amitriptyline. It does help a lot. Not perfect but I can function with daily tasks. I had tried neuropure and it was a waste of money. It does seem like ALA does help. No over the counter creams did anything. The burning was so bad I couldn't feel any difference. I hope you can find some relief. I still hope to get back normal, but at least currently it's not painful. Just annoying.

You need to get a neuromuscular neurologist who will order DNA testing, preferably whole genome sequencing (WGS), which means sequencing every gene in your genome. My neurologist started with gene pain panels which covered only a limited number of genes (100), but it wasn't until we did WGS that my mutated genes were found. I am heterozygous (one good and one bad copy) of each of two mutant genes: SDHB and FBXL4. Neither of these were on the limited panels that were ordered for me. They are discovering new mutations responsible for neuropathy on a regular basis, so it may be necessary to re-test every couple of years. Medicare covers the cost and some other insurers do as well because they're beginning to realize that finding the culprit gene and getting an effective treatment is way cheaper than covering the costs of a chronic, disabling disease.
I'd recommend that you take a look at some patient education webinars relating to gene therapy at ASCGT.org. While there are only a few FDA-approved gene therapies available now, they are predicting that the field will really take off soon. Also CMTA.org (Charcot-Marie-Tooth Association) has a lot of info re genetic neuropathies. It's difficult to treat a hereditary neuropathy until you know the culprit gene(s). Try to channel your despair into getting educated and following doctors who do research relating to your mutation. It's going to take time - the field may be taking off, but a lot is still unknown. I often feel frustrated and trapped, especially because I'm older (67). But it sounds like you are younger, and there may very well be a cure for you within the next 5-10 years, but you will have to be aggressive about tracking it down. In the interim, take good care of your health. Best of luck. 🙂

John - Once again, I think your insight on PN is dead on. The "even knowing the cause is not going to help you find a cure" is exactly right. And, with PN, that is the probably as hard to accept as the pain and numbness and balance issues we live with each and every day. I've expressed this in the past that sooner or later, one realizes that living our life the best we can makes more sense than chasing the reason why we ended up with PN. We wake up each day with this rotten disease and that isn't going to change but what can change is how you choose to live with PN, dealing with it and find things that work offering SOME relief.

Ed - I will argue that knowing the cause can aid in helping find what works. In many (if not all - no idea) PN is a symptom of another disease - autoimmune, sarcoidosis, diabetes, etc. I had no clue how to attack my pain until a random dose of steroids worked. I have a long list of diseases and syndromes where the answer has been sorry not much can be done for you but at least I have closure on what it is, and what to look for in research papers when the mood strikes me. I don't have that closure yet with SFN and may never get it, probably more because I am tired of pushing for answers that no one wants to give.

Hi @johnbishop, while your comment about not finding a cure is surely true for the vast majority, I think there are a couple of caveats that should be added. The first is that it assumes a complete and properly executed program of testing and evaluation: idiopathic neuropathy is not just a diagnosis of our collective ignorance, but also of convenience.

The second is that the list of available diagnoses and treatments is growing, even if too slowly for most of us. There was a promising clinical trial (I don’t know the status) for one type of amyloidosis, for example. The identification in 2021 of RFC1 expansions as a possible factor in a significant number of sensory-only “CIAP” cases strikes me as an important development, because it opens the possibility for treatments, however remote. It also helps because every time the idiopathic bucket gets smaller and more homogeneous, the less likely it is that evaluation of treatments is confounded by the fact that a cohort may actually contain a large number of fundamentally different diseases.

Your counsel of acceptance is surely the most helpful advice for most people most of the time, but I think there’s still room for a little hope as long as we are realistic that the odds are long.