1. < Neuropathy

Unknown Cause or Idiopathic SFN

Posted by katec @katec, Nov 5, 2019

Hello. I was wondering if there were any folks out there who were at one point labeled “idiopathic” or “unknown cause” SFN, BUT later found the cause?

I’m asking because my son (15 years old) has a positive biopsy for SFN. We have done every blood test imaginable and thorough genetic testing to try and pinpoint what is causing his SFN so we can guide treatment. So far, nothing shows up out of the ordinary on any test. His B12 is high, which is weird since he is homozygous for MTHFR, but other than that everything comes back normal on blood tests and his genetic testing shows no known mutations.

His doctors have tried many medications and he doesn’t respond to those in either a negative or positive way. The doctors are pretty stumped, so I was wondering if anyone else has had a similar situation and finally did find something (maybe outside the box of normal testing) that they think is causing the SFN and were better able to treat it? Ideally we’d like it to be autoimmune, so we could start IVIG or another type of immunotherapy (even though he didn’t respond to a 30 day high dose of prednisone) but nothing in his bloodwork is pointing in that direction.

Thanks so much!

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albiet | @albiet | Dec 15, 2019
In reply to @katec "@rwinney My son has really given Dr Oaklander a run for her money! She’s pretty perplexed..." + (show)
@katec

@rwinney My son has really given Dr Oaklander a run for her money! She’s pretty perplexed about what’s causing his SFN and why he hasn’t responded to any kind of treatment (medications, spinal stimulator, etc). We ran a complete exome genetic test on him and although we got the results back saying there were no mutations on any known genes to cause SFN (SCN9A and SCN10) she is still wanting to go through all the raw data from that testing to see if she can find something that looks off, but that takes longer to get back from the company who ran the test, so she’s waiting for that data. But if she can’t find anything there, she said she will most likely start treating it like an autoimmune to see if she can at least slow down it’s progression. She said kids are usually easier to treat because they don’t have the underlying health problems we get as we age, and although he’s always been healthy as a horse (albeit he seems to have some kind of connective tissue disorder based on his flexibility but wasn’t officially diagnosed with Ehlers Danlos) She can’t put her finger on why he has SFN. We are positive and optimistic, you have to be when your child has this horrible condition at age 15 and has had it for at least 3 years before being diagnosed. Our lives have certainly changed as his condition worsens (he was a soccer player who went oversees to play in tournaments) but now we stay closer to home and plan all outings around what accommodations we will be able to make for him and still make it fun for our younger son. We make it all work and just keep plugging along hoping for a break through or a definitive treatment path we can pursue.

I hope your new adventure with THC proves successful and you find some reliable and long lasting pain relief!! Fingers are crossed for you!!

Kate

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@katec as a parent, I understand what you are going through. I pray for your son and also for you to continue to have the strength needed to find the cure for his SFN. I believe I read in the thread that you are not from Boston. Will you continue to see dr Oaklander or will she work in conjunction with a local neuro.

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1 reply
katec | @katec | Dec 15, 2019
In reply to @albiet "@katec as a parent, I understand what you are going through. I pray for your son..." + (show)
@albiet

@katec as a parent, I understand what you are going through. I pray for your son and also for you to continue to have the strength needed to find the cure for his SFN. I believe I read in the thread that you are not from Boston. Will you continue to see dr Oaklander or will she work in conjunction with a local neuro.

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@albiet Thanks for your positive thoughts! We need all we can get! Dr Oaklander is great and easy to work with, so we will stick with her as as our “expert” and still use a local neuro as well. Dr O likes having someone local to us so they can see my son when he tries new meds and make sure there are no adverse reactions. She’s been in touch with our pediatrician and our diagnostician during this whole ordeal. She’s pretty honest saying she doesn’t know it all and is always open to others opinions and thoughts! We are lucky to have her in our court.

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1 reply
albiet | @albiet | Dec 15, 2019
In reply to @katec "@albiet Thanks for your positive thoughts! We need all we can get! Dr Oaklander is great..." + (show)
@katec

@albiet Thanks for your positive thoughts! We need all we can get! Dr Oaklander is great and easy to work with, so we will stick with her as as our “expert” and still use a local neuro as well. Dr O likes having someone local to us so they can see my son when he tries new meds and make sure there are no adverse reactions. She’s been in touch with our pediatrician and our diagnostician during this whole ordeal. She’s pretty honest saying she doesn’t know it all and is always open to others opinions and thoughts! We are lucky to have her in our court.

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@katec she sounds wonderful. I tried to get an appointment with her but was told she no longer sees new patients. I am so happy you were able to see her. I hope she opens up to new people in the future.

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azza1 | @azza1 | Dec 31, 2019
In reply to @rwinney "Hi @azza1 Thank you for your response. Im so glad to hear botox injections bring some..." + (show)
@rwinney

Hi @azza1
Thank you for your response. Im so glad to hear botox injections bring some relief to you. I receive botox in the same areas and I count down the days in my final month until next visit. Never thought I'd be so happy to get 40 little bee stings all over my head neck and shoulders. We gotta do, what we gotta do! Yes, no cure is right...sad but true for now. Be well in managing your pain today. Its really hard to live with such uncertainty but talks like this help to know we are not alone.
All the best,
Rachel

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Hi Rachel
How are you ?
As you know , i have a hemiplegic migrain and idiopatic small fiber polyneuropathy .
I want to ask you about the migrain attack?
Do you lose the speech when you get the attack ? Because that is happened for me and thr neuro return the Topamax medication for me after he stopped it when he prescribed the botox injection for me from 2 years ago . But now the neuro wants me on the botox and the medication too . The loss of speech it takes days now and i feel weak on my right side of my body too .
Would you please , tell me is this your situation too .
Thank you

Manal

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1 reply
Mentor
Rachel, Volunteer Mentor | @rwinney | Jan 5, 2020
In reply to @azza1 "Hi Rachel How are you ? As you know , i have a hemiplegic migrain and..." + (show)
@azza1

Hi Rachel
How are you ?
As you know , i have a hemiplegic migrain and idiopatic small fiber polyneuropathy .
I want to ask you about the migrain attack?
Do you lose the speech when you get the attack ? Because that is happened for me and thr neuro return the Topamax medication for me after he stopped it when he prescribed the botox injection for me from 2 years ago . But now the neuro wants me on the botox and the medication too . The loss of speech it takes days now and i feel weak on my right side of my body too .
Would you please , tell me is this your situation too .
Thank you

Manal

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Hello Manal
Oh dear, no I do not lose speech and never have with a migraine. (I'm sorry for the late response...just seeing this now).
I never was on any headache med like Topamax. My Dr went straight to botox every 3 months. Triptans never worked so then to Aimovig and now Emgality monthly injection. Cambia is my abortive powder medicine for onset of migraine. I'm going for botox this week and my body tells me when I'm due, believe me. I feel botox is incredibly valuable to both migraine and neuropathy. I feel terrible that you've experienced these feelings. That's scary. I wish you the best.
Rachel

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jennyw | @jennyw | Jan 6, 2020

Have you tried changing his diet? Gluten is a well known cause of peripheral neuropathy as is msg and other food chemicals

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2 replies
Mentor
John, Volunteer Mentor | @johnbishop | Jan 6, 2020
In reply to @jennyw "Have you tried changing his diet? Gluten is a well known cause of peripheral neuropathy as..." + (show)
@jennyw

Have you tried changing his diet? Gluten is a well known cause of peripheral neuropathy as is msg and other food chemicals

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Hello @jennyw, welcome to Mayo Clinic Connect. Thank you for sharing this information about the connection between gluten sensitivity and neuropathy. I knew sugar and diabetes are players that can induce neuropathy but wasn't aware of the gluten connection. Here's some more information for others who may be curious.

Neuropathy associated with gluten sensitivity -- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2077388/

Did changing your diet help with your neuropathy symptoms?

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1 reply
katec | @katec | Jan 6, 2020
In reply to @jennyw "Have you tried changing his diet? Gluten is a well known cause of peripheral neuropathy as..." + (show)
@jennyw

Have you tried changing his diet? Gluten is a well known cause of peripheral neuropathy as is msg and other food chemicals

Jump to this post

@jennyw Yes, we eliminated gluten, eggs and dairy from his diet for about 6 months with no reduction in pain and it made for a very grumpy kid with all the restrictions! He also lost a lot of weight on that diet and the doctors got concerned so he’s now back on all foods. I still try and keep him fairly gluten free, if that’s a thing, but it doesn’t seem to have any impact on his SFN. Thanks for the suggestion, I always appreciate the ideas!!

REPLY
jennyw | @jennyw | Jan 6, 2020
In reply to @johnbishop "Hello @jennyw, welcome to Mayo Clinic Connect. Thank you for sharing this information about the connection..." + (show)
@johnbishop

Hello @jennyw, welcome to Mayo Clinic Connect. Thank you for sharing this information about the connection between gluten sensitivity and neuropathy. I knew sugar and diabetes are players that can induce neuropathy but wasn't aware of the gluten connection. Here's some more information for others who may be curious.

Neuropathy associated with gluten sensitivity -- https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2077388/

Did changing your diet help with your neuropathy symptoms?

Jump to this post

Hi John, I started another discussion which details my experience. I can't work out how to connect that discussion but it was titled 'Gluten intolerance and peripheral neuropathy'.

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1 reply
albiet | @albiet | Jan 6, 2020

@johnbishop John and and anyone that can comment, I’ve been feeling terrible lately and wondering if anyone would attribute these to SFN - tinnitus, exhaustion , chattering teeth, tingling buzzing in extremities. I’m at my wits end.

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