Can Mayo help figure out what type of Neuropathy

Posted by housewrk @housewrk, May 11 9:35am

I have had 4 EMG’s over the last several years and my neuropathy is progressively get worse. Luckily I am not in much pain. Anyway, when I asked my Neurologist what type of neuropathy I have she said, I believe it is some form of Hereditary Demylenating Neuropathy. I thought about it and I wanted to know more to tell my children. So she had me send a saliva sample to Invitae. Of course that came back with 2 gene variants with unknown significance. So we know nothing more. She said she could refer me to Mayo and they might be able to tell me more. Now I am waiting on someone from Mayo to call me. Do you know if they will be able to help narrow this down or is it just going to be another IDK what you have? I just don’t want to get my hopes up like I did with the genetics testing. I have a lot of things going on in my body and want to know if neuropathy is the cause.

Interested in more discussions like this? Go to the Neuropathy Support Group.

John, Volunteer Mentor | @johnbishop | May 11 9:55am

Welcome @housewrk, You are not alone wanting to get a better diagnosis and wanting to know more about causes and progression of the condition. I was diagnosed with idiopathic small fiber peripheral neuropathy at Mayo Rochester by a neurologist after a few tests and physical exam. That was in 2016 after 20+ years of watching the progression of my symptoms (numbness and some tingling) go from my toes to above my ankles. It was only after years of the progression that I decided to see a neurologist because everyone of on my primary care docs knew what it was but told me there weren't any treatments for the numbness. So, I got the diagnosis and was disappointed to get the same answer about treatments available to help with the numbness which was what first brought me to Mayo Clinic Connect. My neurologist also said my neuropathy was probably hereditary.

There are quite a few discussions and comments by members on diagnosing neuropathy that you might want to scan through while you wait for your callback from Mayo. Here's a link that shows the list - https://connect.mayoclinic.org/search/discussions/?search=diagnosing%20neuropathy

Did your doctor provide a referral to Mayo Clinic or did you call to make an appointment?

housewrk | @housewrk | May 11 10:01am

In reply to @johnbishop "Welcome @housewrk, You are not alone wanting to get a better diagnosis and wanting to know..." + (show)

My Neurologist sent a referral.

harley22 | @harley22 | May 11 11:22am

In reply to @johnbishop "Welcome @housewrk, You are not alone wanting to get a better diagnosis and wanting to know..." + (show)

I tried to get an appt at Mayo several mos ago, and I was told they were not giving any more neurology appts out.
Try again in a few months.
I also just had a genetic test like you did last week.
Waiting to see what kind of results I’ll get regarding my neuropathy.