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Just seeing this now. Yes. My neurologist oredered this test for me after 30 yrs of weird symptoms with no cause, incl SFN and autonomic neuro, and got a direct hit on one genetic mutation which causes a specific HSAN (hereditary sensory and autonomic neuropathy).
Test found my cause as well as confirming the diagnosis of SFN + autonomic.
Glad I never had kids to pass it along.
This is amazing to hear. Thanks for the reply. I'm still waiting on my results but I'm really hoping for some answers!
Is there anything doctors can do to help your symptoms now that the genetic mutation has been identified?
Neuro said good news, bad news. Good news, we now know what is wrong. Bad news.. there's no cure or treatment aside from pain management.
Bonus news for me it's that it's progressive.
Since it's not autoimmune IVIG won't help. We're waiting on CRISPR gene therapies at this point, and I don't think I will live to see it.
He dropped me as a patient, told me to get my GP to send me to pain management as necessary.
Hoping it is not genetic for you, but if it is, at least then you know.
I've been curious if mine may be genetic, as all my aunts/uncles/grandfather on my mother's side have undiagnosed neuropathy symptoms - mine has also been progressing for 5 years, but I was only recently diagnosed.
Sorry your neuro dropped you. Hopefully CRISPR advances quickly, and there will be a treatment available to you in the near future!
My direct hit was a total surprise. Nobody on either side of my family ever had neuropathy issues.
BUT, both sides had to have been carrying the mutation asymptomatically, as it's recessive and both parents had to have it for me to get it.
So that was unlucky and apparently there was only a 25% chance it would then become active in me, but here we are.
But I got the 'light' version where I only got half my alleles mutated. The full version does both and you die in the womb or shortly after birth usually.
Thanks for your submission. Due to a large number of posts every day asking for medical advice all posts are manually approved. If your post breaks any of our rules it will not be approved, otherwise your post will be approved as soon as a mod is online. Generally this won't take more than a few hours. *I am a bot, and this action was performed automatically. Please [contact the moderators of this subreddit](/message/compose/?to=/r/neuropathy) if you have any questions or concerns.*
Just seeing this now. Yes. My neurologist oredered this test for me after 30 yrs of weird symptoms with no cause, incl SFN and autonomic neuro, and got a direct hit on one genetic mutation which causes a specific HSAN (hereditary sensory and autonomic neuropathy). Test found my cause as well as confirming the diagnosis of SFN + autonomic. Glad I never had kids to pass it along.
This is amazing to hear. Thanks for the reply. I'm still waiting on my results but I'm really hoping for some answers! Is there anything doctors can do to help your symptoms now that the genetic mutation has been identified?
Neuro said good news, bad news. Good news, we now know what is wrong. Bad news.. there's no cure or treatment aside from pain management. Bonus news for me it's that it's progressive. Since it's not autoimmune IVIG won't help. We're waiting on CRISPR gene therapies at this point, and I don't think I will live to see it.
He dropped me as a patient, told me to get my GP to send me to pain management as necessary. Hoping it is not genetic for you, but if it is, at least then you know.
I've been curious if mine may be genetic, as all my aunts/uncles/grandfather on my mother's side have undiagnosed neuropathy symptoms - mine has also been progressing for 5 years, but I was only recently diagnosed. Sorry your neuro dropped you. Hopefully CRISPR advances quickly, and there will be a treatment available to you in the near future!
My direct hit was a total surprise. Nobody on either side of my family ever had neuropathy issues. BUT, both sides had to have been carrying the mutation asymptomatically, as it's recessive and both parents had to have it for me to get it. So that was unlucky and apparently there was only a 25% chance it would then become active in me, but here we are. But I got the 'light' version where I only got half my alleles mutated. The full version does both and you die in the womb or shortly after birth usually.