Small Fiber Neuropathy and genetic testing?
Hi everyone, it was great to find this forum and all of you wonderful members on it. This is my first post.
I was diagnosed with idiopathic small fiber neuropathy earlier this year. I was wondering if anyone has undergone genetic testing for this condition (specifically the SCN9A and SCN10A genes)? I have an appointment with a geneticist next month. I think I’d find it helpful to look for answers as to the cause of my condition, and if they found any linked genetic mutations it would affect my reproductive choices as well.
Backstory if it’s helpful to anyone: I’m a 27 year-old woman, previously active and relatively healthy but then I started having constant pain in my hands and feet last year. At first my doctor thought it could be RA but then they did nerve conduction studies and QSART test to diagnose SFN. I’ve seen multiple rheumatologists, neurologists, gastroenterologists, etc. I also have some joint hypermobility (I think a 5/9 on the Beighton), especially in my limbs and upper body… I might consider genetic testing for EDS as well. I was diagnosed with PTSD years ago, so I have definitely put my nervous system through a lot. I couldn’t find any research linking it to SFN specifically though.
It’s been really challenging to go from being healthy and active to having chronic pain, and to know that I am only 27 with 50 years ahead of me with this condition and no treatment available. The pain is worst in my hands and wrists so it makes work and everyday tasks painful — I recently quit my job partly because of this. I used to teach yoga part-time and enjoy activities like rock climbing, cycling, even the occasional run for fitness but I’ve had to give up on those things. I’ve also lost almost 10% of my body weight in the past year from this and related stress (I was already borderline underweight to begin with).
Things that I’ve tried: I’ve been receiving acupuncture for about 6 months, most of the time it helps keep the pain to a manageable level although when I get pain attacks (like last month when I decided to go for a run it triggered two weeks of severe pain) even acupuncture is ineffective. For some reason I’ve found that the TCM herbs the doctor prescribes have been more helpful than the acupuncture itself. Lyrica helps me to sleep but doesn’t actually reduce the pain — I can’t tolerate anything more than 50mg due to side effects. Tramadol gave effective pain relief but made me too drowsy and gave me flu-like symptoms even after just once dose. And when I can manage it, very gentle yoga and meditation is helpful.
My doctor prescribed a low dose of amitriptyline but I have yet to try it. It’s more of a “last resort” for me because I’m very sensitive to medications and speaking from experience I have a very hard time with drug withdrawals, even on supposedly low and unproblematic doses. I will likely start taking it next year if my acupuncture shows no further progress.
I would love to hear from anyone who’s had similar experiences! Sending thoughts and good vibes to everyone here 🙂
Interested in more discussions like this? Go to the Neuropathy Support Group.
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
Hi again @hypotemusea I did find that person. It was @mjpm2406 and you can find what they posted on their profile page describing some things about the genetic testing they had done, linked here:
Not sure if that person is still paying attention to Mayo Connect at this point. But you can try to use their Mayo name @mjpm2406 in a post and perhaps he/she might contact you or at least post a reply. -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.
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.
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
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.
Hello and a big warm welcome to the group! Thank you for sharing your journey. My heart is heavy to learn what you have been suffering. I am certain that you will find a great deal of information, support, encouragement and inspiration here on the blog. I will be upholding you in prayer that you may experience God's comfort and peace through Christ which surpasses human understanding. This is what has gotten me through the many fires we all walk through in this life. Many blessings and warmest wishes, Sunny flower. 😊🙏
@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 😊
Jennifer, yes, yes, yes!!! Well done here!! You are so right, our testing in the United States for Lyme disease does not detect Lyme disease a lot of the time. Europe has a different testing system where the bands, whatever those are, are different. I read this book: "Believe Me: My Battle with the Invisible Disability of Lyme Disease" where she explains these bands and the differences between European and United States testing for Lyme disease. This is a compelling book. Yolanda went around the world do the most renowned medical and alternative Medical Specialists. She had grueling and costly treatment of all kinds imaginable. She eventually went through a terrible divorce with her husband music producer, David Foster. I haven't heard anyone beside you Jennifer, speak to this issue and it is so good to see it here! Thank you for this wealth of information and the resources! Many blessings to all, Sunny flower @hypotemusea
@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.
Hi Jennifer, thanks for all the info and advice! You are right that Lyme is a possibility. I lived in Eastern US for several years where I was outdoors a lot and also lived for some time in South American jungles and forests, although my home country is in Southeast Asia (where I currently am). I have friends who've dealt with chronic Lyme complications so I'm aware of how bad it can be. In my country here there's not as much awareness. I took a Lyme antibody test here, and it came back negative, although of course that doesn't really say anything like you pointed out.
As far as I'm aware I've been bitten by ticks twice, first time in upstate NY in 2015 and second time in rural Guatemala in 2018, I immediately took antibiotics the first time (having seen what Lyme can do I didn't want to take chances!) but not the second. My hunch is that it isn't Lyme because I don't really have joint pain? My main symptoms are the nerve pain, tingling, constant burning sensation in my hands and feet. I feel that the pain is more nerve-related, not so much the joints. I have pain in my elbows but they were very hypermobile so that might be the culprit. I don't really have any symptoms in the larger weight-bearing joints, fortunately. My rheumatologists did an ultrasound for my hands to look for inflammation and there was none. Steroids and anti-inflammatories had no effect on my pain.
So there's not much I can do to further the Lyme investigation for now while I'm here, but when I return to the US I'll definitely seek out a more experienced Lyme practitioner if my health issues still persist.
And thanks for bringing up PTSD as well. It's why I suspected RA at first given the documented links between PTSD and autoimmune diseases like RA… but I've done many comprehensive blood and antibody tests to find evidence of autoimmune issues and they all came back negative. It's certainly possible that I have something autoimmune going on that those tests are not finding, but I'm confident to rule out the big culprits like lupus and RA for now. It's certainly a detective hunt!
@sunnyflower You're right that once a doctor is confident in a diagnosis that they wouldn't see further testing as necessary. The first neurologist I saw declined to do a nerve biopsy for me (although I understand it's standard with doctors in the US) because to him my diagnosis had already been confirmed by the QSART test.
For genetic testing I think it could make a difference in the diagnosis? If they identify a genetic link then maybe there's no need to turn over every stone looking for hidden autoimmune or neurological causes?