Undetermined Auto Immune

I’m sorry this is happening to you. I thought I’d share my experience with FGFR3 if it helps.

What makes you categorize your symptoms as autoimmune, and is it primarily small fiber neuropathy?

I have small fiber neuropathy and also am positive for the FGFR3 autoantibody. The thing is, there’s not much research on this autoantibody. You may have come across the studies already on your own, but they’re very small and some associate it with small fiber neuropathy. There have been some small trials for IVIG and some show people improved while others show people didn’t improve.

Other treatments for FGFR3+ small fiber neuropathy are plasmapherisis and steroids.

But because there’s such little evidence, it’s been my experience that very few neurologists are either (a) familiar with the FGFR3 autoantibody or (b) feel comfortable with the treatment strategies I mentioned above. The original neurologist who diagnosed me did research in this area, but she left my state before we were able to start treatment.

Is your neurologist through Washington University? That’s the only lab that I thought when does the FGFR3 testing, so I wondered if there was a neurologist there who’s familiar with it?

It unfortunately doesn’t surprise me that your neurologist didn’t want to treat the underlying cause (if you’re attributing it to the FGFR3) because of what I mentioned above. There’s just very little research to show that anything other than conventional treatment would be effective unless there’s more to go on than the FGFR3. If it’s medications you’re more interested in, providers will attempt to manage the symptoms with gabapentin, Lyrica, or Cymbalta. There are neurologists who are more familiar with FGFR3 but I’ve gone through about 10 neurologists and only found 3 people who were aware of it. All but the original neurologist felt confident treating it the way I described. I’ve been been to two Mayo Clinic campuses neither team knew about it at all.

There’s also a Peripheral Neuropathy discussion board on Connect that you might want to check out. I’ve seen a few posts from others with the FGFR3 autoantibody.)

I have been on Gabapentin for going onto 5 years, when Peripheral Neuropathy first manifested itself, my PCP referred me to a Rheumatologist, who did about 30 different blood tests, nothing stood out. Maybe this is just very coincidental, but I had been on Cymbalta for about 12 years for pain management from a real bad auto accident, when I weaned myself off of it, the Peripheral Neuropathy started very slowly though mainly just cold toes and fingertips. Now it is numb and painful too. Between PCP and Neurologist, the Gabapentin dose went from 300 mg once daily to 600 mg three times daily. At one point in time, the Neurologist up it to 800 mg three times daily, but I could not tolerate that dose, went back to 600 mg 3x. Neurologist also added 50 mg Nortriptyline. Concurrently, with the neuropathy, I began having a dull burning pain in my right ear, after about 2 months of wasted time with an ENT, the ENT recommended I see a Neurologist, I ended up seeing a second Neurologist at the Neuromuscular Department at BJC/Wash U. She got off track with thinking I had early onset Parkinsons, which I did not. I got a referral from her to see a "Neurotologist," which supposedly is a Neurotologist that specializes in ENT, but he was just an ENT. I saw him on June 5, he thought it was a compressed nerve and wanted to confer with the Neurologist and Orthopedic Dr (he is the one that referred me to the Neuromuscular Dept. Asked me to give him a week, been 3 weeks and the ENT did not respond to a follow-up message 5 days ago. If you are wondering why all the discussion about the dull burning ear paid? The Wash U Neurologist is the one that said it is probably due Small Fiber Neuropathy, however, the dull burning ear pain is positional, gets really bad when sitting too long. The auto immune belief is due to the constant chills and just never feeling well. With FGFR3 Antibody, co-existing autoimmune diseases can be observed. Also, Trigeminal Neuralgia too. Did the IVIG infusions help you?

Unsure if this will help, but maybe.

Undiagnosed Diseases Network,
The Undiagnosed Diseases Network (UDN) is a research study funded by the National Institutes of Health. Its purpose is to bring together clinical and research experts from across the United States to solve the most challenging medical mysteries using advanced technologies.
Through this study, we hope to both help individual patients and families living with the burden of undiagnosed diseases, and contribute to the understanding of how the human body works.
https://undiagnosed.hms.harvard.edu/apply/
National Organization of Rare Diseases
They realize there are undiagnosed people and offer to help find a specialist.
https://rarediseases.org/understanding-rare-disease/undiagnosed-diseases/k

In my experience the dull burning external pain is neuropathic
neuralgia. I use icy Hot lotion when it starts to bug me.

Dull, burning pain I referred to is in my right ear. I believe it is due to a compressed nerve. It is positional too, mainly when sitting and inactive.

@ dstone501957. . I see that another member has recommended that you call NORD. I’m sorry that your health is in a confused state. You might also call GARD Genetic and Rare Disease organization. They also can refer you to doctors in your state.
I have 1 question for you: what convinces you that what you have is autoimmune?

Autoimmune disease is one thing that several specialists and my PCP all agree on. They just can't seem to identify it. The underlying cause for the Small Fiber Neuropathy is likely an autoimmune disease. The FGFR3 autoantibodies have been reported with coexisting autoimmune diseases. I have had a 15 month period of chills and feeling unwell too.

Hmm. That is quite a confusing blend. I hope that you hear from the ENT soon. The ear pain does sound a bit more like a compressed nerve than small fiber nerve pain, since you mentioned it’s positional.

I didn’t actually have an opportunity to try IVIG because my neurologist proposed the care plan right before the pandemic and at that point monthly infusions in a hospital or at home seemed unwise, and then she ended up leaving the medical center. That was in 2021 and only last year I found a neurologist who could understand the plan she left, but new research has since emerged (namely, the more recent study that showed IVIG didn’t result in a statistically significant change in symptoms for people with presumed FGFR3 small fiber neuropathy), and I also have POTS and an autoimmune arthritis, so he wanted to pursue treatment for POTS first.

He helped me get in with the POTS Clinic at Johns Hopkins; the clinical director is both neuromuscular medicine and physical medicine and rehab. And he said IVIG might help me, but “It’s not without its risks,” so he wants to exhaust all other conservative measures first. It’s been a long road.

There’s at least one person on Connect I exchanged posts with who did have a positive response to IVIG for this.

I hope you’re able to have answers and a path forward soon.

@dstone501957

Have you had your thyroid TSH, T3, T4 and TPO levels checked? I have Hashimoto’s thyroiditis which is autoimmune plus hypothyroidism post lobectomy and there are ties to cold/temperature sensitivities. I also have idiopathic small fiber neuropathy and peripheral neuropathy. I have had burning facial rashes that seem connected to trigeminal nerves and tinnitus/hearing loss/pressure and told by an audiologist I should get checked for Ménière’s disease. I have had hearing loss in both ears over time so told it may not be Meniere’s but may be AIED.

My neurologist told me there unfortunately is no cure for small fiber neuropathy. They can only treat the underlying cause if found and SFN symptoms. I take a very low dose of gabapentin (100mg) but it makes me dizzy/tired. Doesn’t really help much and has long term side effects you should look into. Sometimes medications can cause toxicity which can be a cause for SFN.

Have you been assessed by ENT for autoimmune inner ear disease (AIED)? Have you had COVID/vaccine or chickenpox/shingles? Certain viruses can affect your nervous system and stay dormant for periods and then get activated causing symptoms but always stays in you for life (the viruses that are the “gifts” that keep on giving are chickenpox/shingles, Epstein Barr Virus that causes mononeucleisis, Herpes viruses (HSV1/HSV2), etc. You can get bloodwork to check for these viruses (if dormant or active). Have you had MEIs of your cervical spine and head to look more closely at what may be causing your symptoms if there is a nerve or vascular cause?

@dstone501957
P.S. My autocorrect changed my MRI to MEI. I have had head, cervical, thoracic, lumbar and hip/pelvis MRIs to investigate my many pain symptoms so feel like a MRI specialist. 😉

I meant to also ask you if you had bloodwork to check vitamin b12 and b6 levels since deficiency or toxicity could cause SFN. I, like you, just feel unwell most of the time now. I wonder if I have long COVID now which may be behind some of my symptoms.

I do take alpha Lipoic acid and Acetyl l carnitine supplements for small fiber neuropathy. I started taking that when my feet started burning in 2017 (my first SFN symptom). SFN and peripheral neuropathy seems to have traveled up my legs and arms. My cervical spondylitic myelopathy has caused some permanent spinal cord injury. I have so many symptoms I can't tell what is causing what anymore. I am 54 years old and believe I will need to accept my disability, do my best to take care of myself, treat symptoms to help improve quality of life, etc. I have been on an 8+ year journey seeking answers and I am tired. Many doctors do not know how to treat many conditions and many are not curable but doctors don’t seem comfortable telling patients the truth of their conditions so you get the runaround of false hope.