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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Mentor
Rachel, Volunteer Mentor | @rwinney | Dec 11, 2019
In reply to @katec "My son was put on 50 mg of Prednisone for 30 days to suppress his immune..." + (show)
@katec

My son was put on 50 mg of Prednisone for 30 days to suppress his immune system and see if that helped with his pain. It did not help him at all, but supposedly some people are on maintenance steroids because it does help them. I think it supposed to be more helpful to those whose SFN is caused by autoimmune issues and not genetic.

We are currently trying to determine if IVIG would be a reasonable treatment for my son. Since we can’t point our finger at a specific autoimmune issue causing his SFN and he didn’t respond to the Prednisone, the doctors are hesitant to try it, but haven’t ruled it out yet. Insurance probably won’t cover it since we can’t pin it on a specific autoimmune disease, but that’s ok, he’s 15 years old and something needs to be done soon! I’ve gotten my way with insurance in the past, so I’m prepared to work my magic again;) Insurance hasn’t met this Mama Bear yet!

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Hi there. I'm thinking of your son and wondering how your fight with insurance is going regarding IVIG? How is your boy doing? Any changes for the better?
Rachel

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1 reply
albiet | @albiet | Dec 11, 2019
In reply to @artscaping "@albeit, There is a discussion about this topic....here. It contains the other posts. Let me know..." + (show)
@artscaping

@albeit, There is a discussion about this topic....here. It contains the other posts. Let me know if you have other questions.
https://connect.mayoclinic.org/discussion/ivig-infusions/

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@artscaping thank you. I don’t check every day so sorry for the delay in writing back

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Mentor
Chris Trout, Volunteer Mentor | @artscaping | Dec 12, 2019

@albiet....no problem. It was nice to see your post. How are you doing? Has anything changed for you? Chris

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1 reply
katec | @katec | Dec 12, 2019
In reply to @rwinney "Hi there. I'm thinking of your son and wondering how your fight with insurance is going..." + (show)
@rwinney

Hi there. I'm thinking of your son and wondering how your fight with insurance is going regarding IVIG? How is your boy doing? Any changes for the better?
Rachel

Jump to this post

You’re so sweet for thinking of him. Sadly, nothing new to report. The doctors are still trying to determine if IVIG is the best treatment for him. He sees a wonderful neurologist in Boston who is working on the long term plan for him, but we are seeing a new neurologist that will be local to us, here in Texas, who can hopefully help with the daily pain. He isn’t currently taking anything right now for the pain and he’s pretty miserable. There’s a lot of walking involved in a regular day of high school, so he’s running on empty by the time he gets home but he’s still smiling hoping for the best. He’s been taking CBD lately, but he said it doesn’t seem to make any difference. Are the tinctures (we’ve never tried those) better/more effective than the capsules? Maybe that is something we should look into while we wait to see the new dr next week?

Thanks again for asking about him! How has your pain been lately?

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3 replies
albiet | @albiet | Dec 12, 2019
In reply to @artscaping "@albiet....no problem. It was nice to see your post. How are you doing? Has anything changed..." + (show)
@artscaping

@albiet....no problem. It was nice to see your post. How are you doing? Has anything changed for you? Chris

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@artscaping thabk you for asking. I have good days and bad ones like everyone else. I take imipramine 200mg which helps me sleep and with some of the discomfort. I have said no to lyrica but may give in next year. The thing I don’t understand still is my teeth chatter and feeling of internal vibrations and constant buzzing. They just don’t seem like standard SFN symptoms. I need to find a internist and also a neurologist that will actually work with you to do tests and try and figure things out. Any recommendations for nyc drs appreciated.

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Mentor
Jim, Volunteer Mentor | @jimhd | Dec 12, 2019
In reply to @katec "You’re so sweet for thinking of him. Sadly, nothing new to report. The doctors are still..." + (show)
@katec

You’re so sweet for thinking of him. Sadly, nothing new to report. The doctors are still trying to determine if IVIG is the best treatment for him. He sees a wonderful neurologist in Boston who is working on the long term plan for him, but we are seeing a new neurologist that will be local to us, here in Texas, who can hopefully help with the daily pain. He isn’t currently taking anything right now for the pain and he’s pretty miserable. There’s a lot of walking involved in a regular day of high school, so he’s running on empty by the time he gets home but he’s still smiling hoping for the best. He’s been taking CBD lately, but he said it doesn’t seem to make any difference. Are the tinctures (we’ve never tried those) better/more effective than the capsules? Maybe that is something we should look into while we wait to see the new dr next week?

Thanks again for asking about him! How has your pain been lately?

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@katec

Remember that I continue to pray for your son every day.

Jim

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1 reply
katec | @katec | Dec 12, 2019
In reply to @jimhd "@katec Remember that I continue to pray for your son every day. Jim" + (show)
@jimhd

@katec

Remember that I continue to pray for your son every day.

Jim

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I can’t tell you how much that means to me! I really appreciate it. I hope you are having fewer pain free days and are looking forward to the holidays!

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Mentor
Rachel, Volunteer Mentor | @rwinney | Dec 13, 2019
In reply to @katec "You’re so sweet for thinking of him. Sadly, nothing new to report. The doctors are still..." + (show)
@katec

You’re so sweet for thinking of him. Sadly, nothing new to report. The doctors are still trying to determine if IVIG is the best treatment for him. He sees a wonderful neurologist in Boston who is working on the long term plan for him, but we are seeing a new neurologist that will be local to us, here in Texas, who can hopefully help with the daily pain. He isn’t currently taking anything right now for the pain and he’s pretty miserable. There’s a lot of walking involved in a regular day of high school, so he’s running on empty by the time he gets home but he’s still smiling hoping for the best. He’s been taking CBD lately, but he said it doesn’t seem to make any difference. Are the tinctures (we’ve never tried those) better/more effective than the capsules? Maybe that is something we should look into while we wait to see the new dr next week?

Thanks again for asking about him! How has your pain been lately?

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No problem. He crosses my mind often as I feel horrible for him. Glad he will see a local Neuro. I thought Dr. Oaklander was on board with her thoughts on SFN being associated to auto immune. My knowledge is that every other treatment must be tried for pain before insurance will consider IVIG at 5-10k per treatment. This is hearsay from my Neurologist who is associated with Oaklander. But, given your sons diagnosis at 15 maybe age is a game changer. I certainly hope so. That boy should get whatever helps him function, be safe and as pain free as possible. I'm hanging in there. Thanks for asking. I stopped receiving lidocaine infusions...unfortunately, they weren't keeping up with my progressive pain. Now Im climbing up the THC dosing chart along with CBD. Other drugs as well, each with a purpose. I'm also glad to hear your son is able to attend school, even though it is a challenge. 💪🏼 Keep hope alive young man!
Rachel

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1 reply
Mentor
Rachel, Volunteer Mentor | @rwinney | Dec 13, 2019
In reply to @katec "You’re so sweet for thinking of him. Sadly, nothing new to report. The doctors are still..." + (show)
@katec

You’re so sweet for thinking of him. Sadly, nothing new to report. The doctors are still trying to determine if IVIG is the best treatment for him. He sees a wonderful neurologist in Boston who is working on the long term plan for him, but we are seeing a new neurologist that will be local to us, here in Texas, who can hopefully help with the daily pain. He isn’t currently taking anything right now for the pain and he’s pretty miserable. There’s a lot of walking involved in a regular day of high school, so he’s running on empty by the time he gets home but he’s still smiling hoping for the best. He’s been taking CBD lately, but he said it doesn’t seem to make any difference. Are the tinctures (we’ve never tried those) better/more effective than the capsules? Maybe that is something we should look into while we wait to see the new dr next week?

Thanks again for asking about him! How has your pain been lately?

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Tincture allow for faster absorption to the blood stream through placement under the tongue. Some prefer that method because it's quicker, not necessarily easier.

REPLY
katec | @katec | Dec 15, 2019
In reply to @rwinney "No problem. He crosses my mind often as I feel horrible for him. Glad he will..." + (show)
@rwinney

No problem. He crosses my mind often as I feel horrible for him. Glad he will see a local Neuro. I thought Dr. Oaklander was on board with her thoughts on SFN being associated to auto immune. My knowledge is that every other treatment must be tried for pain before insurance will consider IVIG at 5-10k per treatment. This is hearsay from my Neurologist who is associated with Oaklander. But, given your sons diagnosis at 15 maybe age is a game changer. I certainly hope so. That boy should get whatever helps him function, be safe and as pain free as possible. I'm hanging in there. Thanks for asking. I stopped receiving lidocaine infusions...unfortunately, they weren't keeping up with my progressive pain. Now Im climbing up the THC dosing chart along with CBD. Other drugs as well, each with a purpose. I'm also glad to hear your son is able to attend school, even though it is a challenge. 💪🏼 Keep hope alive young man!
Rachel

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@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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