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 🙂
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Marty, you and Sunny @sunnyflower should pool your money and buy some lotto tickets together. She suffers with 3 extremely rare disorders as well (all different from yours I believe), in addition to several less rare conditions, including PN. I am sorry for the burdon all of this puts on you (and your family) and I hope you are able to find the strength to sustain you through the ordeals they present for you. I am glad you will consider LDN, it just might help your pain. Virtually no side effects, just have to obtain it and try it. Best, Hank
@jesfactsmon @mjpm2406 @sunnyflower I suspect that out of us human beings have one or more genetic blips. Mine are porphyria cutanea tarda and hereditary hemochromatosis, and I wouldn't be at all surprised if my participation in Mayo Clinic's Tapestry Study (exploring your genes using DNA sequencing) comes up with something else.
Agreed. One of my son-in-laws and his brother have hereditary hemochromatosis. I was exposed to a significant amount of toxins at Camp LeJeune, NC so I assume some of my gene mutations occurred from drinking the contaminated water at that Marine base. The SMA gene mutation occurs in 1 out of 50,000 people. So many people are carriers of the SMN1 gene mutation. Once identified it’s important to have all your children tested. Just in case.
@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
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.
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
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
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
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
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.