Small Fiber Neuropathy and genetic testing?

@hypotemusea
Welcome to Mayo Connect. I am so sorry to hear that you are experiencing such bad health issues at such a young age. That is simply not right! One question about medications. Did the doctor run you through a course of neurontin (gabapentin) before moving to Lyrica? That is the standard way it's done. It sounds like that was not the case for you. Gabapentin, Lyrica, Cymbalta, then duloxetine and amitriptyline, Tramadol, and others are usually tried first, and if none of them seem to work they might step you up to opioids and benzos, at least eventually. I would keep that attitude of yours to be reticent to take all medication such as these, and if/when you do, stay on them only if they truly benefit you, don't stay with them one minute longer (i.e. taper back off under doctor supervision). Know that medical marijuana and kratom are good for pain also.

I have heard of a few people here who underwent genetic testing for neuropathy. Wish I could remember who, it's been a few months. Have you exhausted the internet searching for info? You might want to use the search feature here on Connect (magnifying glass at top of this page) and see what you can come up with. Do you think you may have inherited neuropathy? Do other family members have it? Hope your geneticist appt. provides you useful info.

If I can figure out who it was I heard had gone for that type of testing I will let you know. Want you to know that this forum is FILLED with compassionate and smart people (as well as people like me - just kidding). I am pretty sure @johnbishop will touch base with you with something helpful, he always does. Some other good contacts and resources for good feedback here are @jenniferhunter @artscaping @lorirenee1 @jeffrapp @avmcbellar @rwinney (currently doing a 3 wk Mayo Pain clinic) and a ton of others. The site is well supervised as well by some great moderators.

Keep in touch. Good luck. More later. Best, Hank

Hello @hypotemusea, I would like to add my welcome to Connect along with @jesfactsmon and other members. There are a few other related discussions you might find helpful:

- Curious: Are you the only family member with SFN?: https://connect.mayoclinic.org/discussion/curious-are-you-the-only-family-member-with-sfn/
- Unknown Cause or Idiopathic SFN: https://connect.mayoclinic.org/discussion/unknown-cause-or-idiopathic-sfn/

I had the Mayo GeneGuide test before they ended the program and didn't learn anything new from a SFN perspective. Also, I do have a cousin with similar autoimmune diseases including SFN so I feel genetics possibly play a part.

@hypotemusea I know this is a long response, but you may find some new directions to consider and I hope it gives you things to question so you can advocate for yourself..

Since you have been active outdoors hiking and rock climbing and have joint pain that has come somewhat suddenly, that raises a red flag as a possible exposure to Lyme disease. Often there is no bull's eye rash to indicate infection. Neurologists do sometimes test for this with a Western Blot test, but that test can be inaccurate. Lyme is often missed and can mimic other diseases like RA or MS and can lead your doctors on a wild goose chase because of similar symptoms and a patient lives with a treatable condition for years. Lyme is also accompanied by other co-infections that can be bacterial or parasitic and if a patient has these, different antibiotics are used to treat the various co-infections. Lyme is misunderstood by a lot of doctors and they don't have tests for some of the co-infections. The group that does specialize in Lyme are the ILADS group and they use the Igenex lab for more accurate testing. If you can rule out a Lyme diagnosis, that would be a positive step. If you do have Lyme, it is treatable. I've put information at the bottom of this post with ILADS protocols for treating Lyme and co-infections. If you can exercise, it helps because it raises the effective oxygen perfusion rates in your tissues, and oxygen can be toxic to bacterial infections. Since running caused a lot of pain for you, just walk instead and don't stress your joints and only do what doesn't cause more pain. Getting your Vitamin D levels optimized helps because that increases your immune system response. A doctor needs to test this before and after you take Vitamin D supplements because too much can be toxic. My doctor has me take K2 D3 supplements because Vitamin K2 regulates the D3 to prevent depositing calcium in your blood vessels which can be caused by Vitamin D3. Vitamin K is in a lot of vegetables and leafy greens, but many of us don't get enough in our diets, so having it with the supplement is beneficial.

This is like detective work and you need to keep looking until you find the source of your pain. Make a list or chart of everything you have tried and results of your tests. You might want to get copies of your medical records and start looking up what you find. You can learn a lot this way and your doctors could be on a wrong track, but you'll learn about how things can be eliminated or what to look out for. Food allergies can also cause joint pain and inflammation, so you might keep a record of what you eat every day in relation to when your pain gets worse. Environmental toxic mold exposure causes health issues. Sometimes a functional medicine doctor (or environmental medicine) can find causes that are missed by mainstream medicine. If you just accept this pain and take pain killing drugs, you won't understand why it happens. Question everything including any prescriptions you are taking and look up their side effects. You also mentioned PTSD, and you can work through that too. PTSD and stress can cause illness. I had some PTSD too and I got past my fears that had held me back. You can work through it and get to a place in your life where you are no longer limited by fear. When I finally understood where my fears came from and why, I was able to walk away and leave it behind. That journey will be different for everyone. If you can do this at such a young age, you'll be ahead of the game and you can look forward to good things ahead in your life.

I don't know if this is of interest, but there is a lot of research about how adverse childhood experiences can cause disease and auto-immune disease later in life. They use the term "ACE" as a score of how much childhood trauma a person has endured. If you search that online, you'll find self tests and information. I wanted to share a book by an author who recovered from autoimmune disease. I have not read this book, but I have one of her other books about overcoming life's adversity and how your biography of experience relates to disease later in life. She's an excellent medical writer and has been recognized in her field. Here's the book. https://donnajacksonnakazawa.com/autoimmune-epidemic/

Here are some other links to information.

Environmental Health Center in Dallas. https://www.ehcd.com/

Here is a lot of Lyme information.
https://www.vox.com/the-highlight/2019/6/18/18677511/lyme-disease-diagnosis-health
https://www.lymedisease.org/lyme-basics/co-infections/babesia/
Here are some links that describe the challenges with testing for Lyme disease which isn't just one specific organism causing an infection, but many. The accuracy of a blood test is also affected by how long it has been since exposure to infection, and if the body has mounted an immune response against it, and how that would change over time. The Igenex test covers more bands in comparison which you can read about from the link below. For some of the co-infections that accompany the Lyme bacteria, there are no diagnostic tests and the doctor evaluates the patient physically in addition to testing they do. They might test to see how many specific white blood cells are responding to an infection because Lyme can destroy the white cells that are trying to protect the body by fighting it, and the test would show a reduction in the white cells.
https://www.ilads.org/research-literature/controversies-challenges/
https://iladef.org/education/lyme-disease-faq/
https://igenex.com/the-igenex-advantage/
The Igenex lab has more accurate tests. https://igenex.com/ Lyme destroys white blood cells that are your immune system.

Lab in Germany https://www.arminlabs.com/en

Here is a link to ILADS (International Lyme Disease Association). https://www.ilads.org/patient-care/ilads-treatment-guidelines/

Here is the Lyme treatment guideline
https://lymediseaseassociation.org/wp-content/uploads/2009/08/BurrGuide200810.pdf
There is an educational documentary call "Under Our Skin" which profiles several patients and their treatment and controversy about Lyme. https://underourskin.com/

Here is a link that discusses ILADS antibiotic recommendations and for recommended number of days, scroll until you find it.
https://www.tandfonline.com/doi/full/10.1586/14787210.2014.940900

@hypotemusea @jesfactsmon Hello All, in regard to genetic testing or other tests to determine neuropathies, this I know from working over 20 years in the medical field as well as being a patient of many, many years with many, many specialists, that if a provider is certain of a diagnosis, they will not do testing because the test results will not change the outcome or treatment. Can any of you let me know if this would be different for neuropathy? Meaning, would be treatment our outcome be different where a patients neuropathy to be genetic or not? Are there any benefits to knowing this other than any family members including the patient, wanting to know? Thank you so much and many blessings to all of you, Sunnyflower 😊

@hypotemusea I know this is a long response, but you may find some new directions to consider and I hope it gives you things to question so you can advocate for yourself..

Since you have been active outdoors hiking and rock climbing and have joint pain that has come somewhat suddenly, that raises a red flag as a possible exposure to Lyme disease. Often there is no bull's eye rash to indicate infection. Neurologists do sometimes test for this with a Western Blot test, but that test can be inaccurate. Lyme is often missed and can mimic other diseases like RA or MS and can lead your doctors on a wild goose chase because of similar symptoms and a patient lives with a treatable condition for years. Lyme is also accompanied by other co-infections that can be bacterial or parasitic and if a patient has these, different antibiotics are used to treat the various co-infections. Lyme is misunderstood by a lot of doctors and they don't have tests for some of the co-infections. The group that does specialize in Lyme are the ILADS group and they use the Igenex lab for more accurate testing. If you can rule out a Lyme diagnosis, that would be a positive step. If you do have Lyme, it is treatable. I've put information at the bottom of this post with ILADS protocols for treating Lyme and co-infections. If you can exercise, it helps because it raises the effective oxygen perfusion rates in your tissues, and oxygen can be toxic to bacterial infections. Since running caused a lot of pain for you, just walk instead and don't stress your joints and only do what doesn't cause more pain. Getting your Vitamin D levels optimized helps because that increases your immune system response. A doctor needs to test this before and after you take Vitamin D supplements because too much can be toxic. My doctor has me take K2 D3 supplements because Vitamin K2 regulates the D3 to prevent depositing calcium in your blood vessels which can be caused by Vitamin D3. Vitamin K is in a lot of vegetables and leafy greens, but many of us don't get enough in our diets, so having it with the supplement is beneficial.

This is like detective work and you need to keep looking until you find the source of your pain. Make a list or chart of everything you have tried and results of your tests. You might want to get copies of your medical records and start looking up what you find. You can learn a lot this way and your doctors could be on a wrong track, but you'll learn about how things can be eliminated or what to look out for. Food allergies can also cause joint pain and inflammation, so you might keep a record of what you eat every day in relation to when your pain gets worse. Environmental toxic mold exposure causes health issues. Sometimes a functional medicine doctor (or environmental medicine) can find causes that are missed by mainstream medicine. If you just accept this pain and take pain killing drugs, you won't understand why it happens. Question everything including any prescriptions you are taking and look up their side effects. You also mentioned PTSD, and you can work through that too. PTSD and stress can cause illness. I had some PTSD too and I got past my fears that had held me back. You can work through it and get to a place in your life where you are no longer limited by fear. When I finally understood where my fears came from and why, I was able to walk away and leave it behind. That journey will be different for everyone. If you can do this at such a young age, you'll be ahead of the game and you can look forward to good things ahead in your life.

I don't know if this is of interest, but there is a lot of research about how adverse childhood experiences can cause disease and auto-immune disease later in life. They use the term "ACE" as a score of how much childhood trauma a person has endured. If you search that online, you'll find self tests and information. I wanted to share a book by an author who recovered from autoimmune disease. I have not read this book, but I have one of her other books about overcoming life's adversity and how your biography of experience relates to disease later in life. She's an excellent medical writer and has been recognized in her field. Here's the book. https://donnajacksonnakazawa.com/autoimmune-epidemic/

Here are some other links to information.

Environmental Health Center in Dallas. https://www.ehcd.com/

Here is a lot of Lyme information.
https://www.vox.com/the-highlight/2019/6/18/18677511/lyme-disease-diagnosis-health
https://www.lymedisease.org/lyme-basics/co-infections/babesia/
Here are some links that describe the challenges with testing for Lyme disease which isn't just one specific organism causing an infection, but many. The accuracy of a blood test is also affected by how long it has been since exposure to infection, and if the body has mounted an immune response against it, and how that would change over time. The Igenex test covers more bands in comparison which you can read about from the link below. For some of the co-infections that accompany the Lyme bacteria, there are no diagnostic tests and the doctor evaluates the patient physically in addition to testing they do. They might test to see how many specific white blood cells are responding to an infection because Lyme can destroy the white cells that are trying to protect the body by fighting it, and the test would show a reduction in the white cells.
https://www.ilads.org/research-literature/controversies-challenges/
https://iladef.org/education/lyme-disease-faq/
https://igenex.com/the-igenex-advantage/
The Igenex lab has more accurate tests. https://igenex.com/ Lyme destroys white blood cells that are your immune system.

Lab in Germany https://www.arminlabs.com/en

Here is a link to ILADS (International Lyme Disease Association). https://www.ilads.org/patient-care/ilads-treatment-guidelines/

Here is the Lyme treatment guideline
https://lymediseaseassociation.org/wp-content/uploads/2009/08/BurrGuide200810.pdf
There is an educational documentary call "Under Our Skin" which profiles several patients and their treatment and controversy about Lyme. https://underourskin.com/

Here is a link that discusses ILADS antibiotic recommendations and for recommended number of days, scroll until you find it.
https://www.tandfonline.com/doi/full/10.1586/14787210.2014.940900

@sunnyflower - In my non-medical opinion, it probably does not make a difference in the outcome or treatment to know if your neuropathy is genetic or not. That said, it would be nice to know for younger relatives to save them from lots of stress and perhaps a chance to take some preventive measures if available.