u/-medical-mystery

Hi friends. Looks like I may have found my cause of my SFN. The results of my whole genome sequencing came back as I’ve been recovering from a surgery, and I have a variant of unknown significance for the SCN10A gene. My variant hasn’t been recorded before so it can’t automatically be assumed to cause symptoms, but the ordering provider was pretty confident it is contributing because of the symptom overlap.

I’m still waiting on some other tests but am feeling more hopeful that meeting with a genetic counselor could give me guidance on how to determine if this gene variant is significant or not.

If anyone else has a SCN10A variant I’d love to hear your story as there is so little info available online.

I recently posted asking about surgery experiences for folks with SFN as I was very anxious about pain control based on my past experiences.

My recent surgery was still difficult at the beginning but WAY better in recovery so I just wanted to share some things that helped in case it ever helps anyone else:

-Journavx/ Suzetrigine: non opioid pill that blocks pain signal from the peripheral nervous system before they are registered by the central nervous system. The only thing I’d do differently is ask to take the first dose before I went under as it takes a while to kick in and I’m pretty sure it was the med giving me the most benefit

-exparel: long acting bupivicaine based formula that is injected into the tissue during surgery and reduces pain in that area for about 3 days.

-regional nerve blocks and epidurals: depending on the surgery these can completely numb a desired area for 1-2 days

-lidocaine and ketamine infusions: can help with nervous system sensitization which is common for those of us with chronic pain and especially unmanaged surgical pain

-other things that helped: ask for a multi modal/multi layered pain plan. Also have multiple backup plans for pain management. For example Journavx was actually a back up plan if the other methods didn’t work. If the Journavx didn’t work then I had prepared my pain specialist and let her know that I might need an emergency ketamine or lidocaine infusion. Having a surgical team that believed me at the largest hospital in my state also helped make sure they had the resources they needed to provide the care that would be most helpful. Knowing which meds usually helped me by name also helped me advocate during a pain crisis while waking up

These things aren’t guaranteed to work for everyone but I just wanted to share some cool things that I learned about more recently and they have given me hope for having an almost normal surgical experience

I’m looking for anyone with a similar pattern of rapidly progressive NLD-SFN. I’m in my 30s with hEDS and MCAS.

Mine doesn’t flare or come and go — it has been constantly progressive. In ~6 months, it has spread to roughly 80% of my body. I haven’t been able to find many patient stories or studies describing progression this fast.

It started asymmetrically in my face and mouth with paresthesias and then traveled downward. Over time, the tingling became primarily numbness/sensory loss.

I now have:
• Widespread numbness
• Reduced pinprick/sharp and temperature sensation
• Reduced/absent sweating in affected areas, with overheating and compensatory sweating elsewhere
• Increasing burning neuropathic pain despite multiple pain meds

I’ve had an extensive workup and seen multiple specialists. A major neuromuscular center recommended skin biopsy for SFN and lip biopsy for possible seronegative Sjögren’s, but I’m scheduled out quite a bit. My PCP has also ordered whole-genome/exome/RNA sequencing to look for potential genetic contributors.

From what I’ve been able to read, the non-length-dependent, facial-onset pattern can occur with immune/inflammatory causes and possibly small-fiber sensory ganglionopathy/neuronopathy. I’m especially interested in finding people who had SFN progress this quickly?

For anyone with similar NLD-SFN:
• How quickly did yours spread?
• Did it eventually involve most/all of your body, and did it stop progressing?
• If you had a skin biopsy, was it positive despite the non-length-dependent pattern?
• Did anything slow the progression or restore sensation/small-fiber function?
• What has actually helped the burning pain?
• How has this affected your quality of life or any surgeries you’ve needed?

Mostly, I just want to find other people whose SFN behaved like this and learn what happened over time.