Reply To: Waiting for diagnosis, looking for support

It is difficult to not have a firm, verifiable diagnosis. According to the National Institutes of Health (NIH), “The diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP) is established in an adult with (1) recurrent focal compression neuropathies and (2) family history consistent with autosomal dominant inheritance.”

In your case the doctor has already ordered the PM-22 gene deletion test. I also had one of those tests.

Which diagnosis did I want? Neither. Because HNPP is family history related it is somewhat easy to say- nope, never heard of that on either side of the family. Well, that depends on how personal the family tree talks get. Sometimes, the family history remains unreported for various reasons.

Well, your test will be back soon. Then you’ll know.

In my case, in addition to the PM-22 gene deletion test, ‘they’ also looked for Charcot-Marie-Tooth disease (CMT) among many other tests.

I suggest people read this article: https://emedicine.medscape.com/article/1172965-overview

If you get a membership required warning it’s no problem. Become a member.

Good luck and best wishes.