Living with HNPP

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I experience frequent, daily, temporary paresthesia (numbness and tingling) in a leg, arm, hand, or foot.  Most of the time, that symptom will go away within an hour.  If I have injured myself more severely, the paresthesia can last for several months.  In the more severe episodes, I have experienced temporary paralysis, making it impossible to use the affected apendage for a while.  I have experienced occasional pain, especially in my hands and wrists.  The pain is often short-lived.  Sometimes it lasts several months.  These are common experiences in people with Hereditary Neuropathy with Liability to Pressure Palsies (HNPP).  I have experienced these and some other symptoms for most of my life.

My mother has had similar symptoms for most of her life.  She has helped me a lot in understanding and dealing with HNPP.  She was diagnosed with this condition via EMG, nerve conduction studies, and a genetic test.  A few years after she was diagnosed, I took a genetic test and discovered my own heterozygous deletion of the PMP22 gene (that's what is reported to be associated with HNPP).

When I experience a severe pressure palsy episode it can be very frustrating.  People around me think I look perfectly normal.  Suddenly, I'm having problems and moderate disability.  Then, I am completely fine again several months later.  I think others may believe I'm faking my symptoms or that they are all in my head.  Thankfully, my mother and others with HNPP know that I'm not making it up.  This is a very real condition affecting many people all over the world.

I am very thankful to find groups of people with HNPP on the Internet. Connecting with those who share this condition is validating and encouraging.