Small Fiber Neuropathy and genetic testing?

Posted by hypotemusea @hypotemusea, Oct 9, 2020

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 group.

I have tried topical creams but don’t work for me. My geneticist said creams don’t seem to be effective when you have CMT. Since Gabapentin and Lyrica don’t work I hope the genetics at Cornell can recommend something else. As you know, we’ll try anything hoping to find something that relieves the tingling and spasms.

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@bustrbrwn22

@hypotemusea it’s interesting you mention PTSD as a potential cause of some autoimmune disorders for some people. I was recently diagnosed with PTSD and I developed 2 potentially autoimmune diseases after some traumatic events in my life. Neither is curable and both are hard to treat. My diseases don’t have a definitive, concrete cause from the medical community but it is awfully suspicious to me.

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Jen, so sorry to hear this! May I ask which 2 autoimmune diseases you were Dx'd with having? Doesn't surprise me as anything as dramatic as PTSD could easily cause our immune system to go haywire although I would think it be temporary?? Trying to learn and care about you deeply, Sunnyflower. @hypotemusea

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@lioness

@mjpm2406 I also don't think gabapentin works for me either but I found a cream I use that's for Neuropathy and Fibromyalgia Topricin cream . Google it or cvs has it Hope it helps you ,helps me

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I use lidocaine 4% solution that I apply with a Q-tip to my knees which for some reason pain seems concentrated there. It is present almost from head to toe and don't know why it is worse on my knees. The lidocaine is very strange but seems to help. All the best, Sunnyflower

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Finally got my Skin biopsy report back stating it’s small fiber neuropathy. No surprise. Waiting to talk to Dr. in the mean found a good website…www.neuropathycommons.org

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Upcoming webinar announcement I received which might be helpful for some folks…

FPN Webinar: Hereditary Neuropathy and Genetic Testing
Thursday, Sep 30, 2021 2:00 PM – 3:00 PM CDT

The Foundation for Peripheral Neuropathy (FPN) invites you to join us for a discussion on Hereditary Neuropathy and Genetic Testing. Brett McCray, M.D., PhD, will join us to share his insights into hereditary neuropathy, as well as current advances in the space which may be of interest to patients with hereditary neuropathy as well as idiopathic neuropathy. Christy Smith, Sc.M., C.G.C., will then share with us the importance of genetic testing, what it means for patients, and what to expect.

Dr. Brett McCray is an assistant professor in neurology at Johns Hopkins Medical Center whose research interest is furthering understanding of various forms of hereditary neuropathy.

Ms. Christy Smith is a board certified genetic counselor at the Johns Hopkins Department of Genetic Medicine in Baltimore, MD. She sees pediatric and adult patients, with a special interest in those with inherited forms of neuromuscular disease, retinal disorders, and pediatric cancers.

FPN thanks Alnylam Pharmaceuticals (https://www.alnylam.com/patients/genetic-testing-and-counseling-program/) for sponsoring this event.

Registration Link — https://register.gotowebinar.com/register/8070190365204298253

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i have with a dr levine out of honor health neurology. it is a special test and only a handful of labs can do it.

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@jesfactsmon

@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

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dr levine honor health group phoenix az will do that test

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he is well known by mayo clinic here in phoenix

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In case you missed the FPN Webinar: Hereditary Neuropathy and Genetic Testing

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How do you get on the list for these types of webinars and more info on neuropathy.

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@pitepalten

How do you get on the list for these types of webinars and more info on neuropathy.

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You just have sign up for their newsletters and you will receive news updates when they occur.
https://www.foundationforpn.org/

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I'm 33 and feel like I too don't know how I'm going to live with this for the rest of my life. My neuropathy has spread to my hands, feet, arms, legs and back. I'm trying to keep it together too.

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