Category Archives: Case Histories

Stories and Biographies from people who live with HNPP

HNPP Case History: Mrs. S from USA

My father was diagnosed with HNPP over 30 years ago. After reading about some of the symptoms when I was younger (finger numbness after using scissors and carrying plastic bags, numb toes from high heels, etc), my sister and I felt we had it too. We weren’t concerned or affected enough to see a neurologist.

Then on June 6, 2011 the complete right side of my body head to toe went weak, tingling, and mildly numb. My balance was off. I felt like my head and feet weren’t working together properly. I had trouble thinking clearly. I’d use the wrong words. Even my vision was mildly affected. After waiting 10 days I went to see my doctor (waiting = not a good idea) I had a MRI to rule out a stroke. The MRI revealed a large amount of white matter brain lesions. My regular doctor called to tell me I had MS. I was referred to a neurologist. Then MS was ruled out. I was tested for anything that could cause white matter brain lesions. All the tests were negative.

After a year of getting no answers I was frustrated. I had to see three different specialists before one connected the fact that my father has HNPP to my brain lesions. The doctor found a study done about the connection of white matter brain lesions and HNPP. A neuro-radiologist confirmed that my lesions were in the exact same area of the brain where the subject in the study had hers. I was given a nerve conduction test. It was positive for damage. Then I had a positive DNA test for HNPP. Since my HNPP diagnosis I’m now being treated for peripheral neuropathy and autonomic dysfunction. Thankfully some of the thinking issues have cleared up. The HNPP diagnosis made me realize how many of the health issues I had/have are related to HNPP .

HNPP: My story by Ms J, Eu.

I was diagnosed with hnpp back in 2005, after many years of going back and forth to the doctors (so many ive lost count), been accused of lying, and almost giving up, finally a doctor, recognized the symptoms and sent me for the test, my broken back, had always been a bit of a red herring when it came to my nerve pain, and doctors, failed to understand why, I was still in pain, even after 2 surgeries.

In 2014, I was diagnosed with painful peripheral neuropathy, finally an explanation to why, I was suffering so much with burning sensations, and nerve pain, from the top of my head down to my toes, something that I live with on a daily basis.

Over the years, I have had many hospital visits, through loss of power and feeling in my legs, to a migraine that blinded me, and closed my throat, I have days where im so exhausted from being in pain, or just that general feeling my body is fighting against me, and stopping me from doing what I love.

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HNPP, My story: Mr. G, Wales, UK

Im 38 years old, I was diagnosed with HNPP in may 2012.

It all started in summer 2011 when i was weight training 5xdays per week, both my arms had turned numb from fingertips to elbows, but I didn’t worry I just assumed a trapped nerve from lifting heavy weights.

A few weeks later the dumbell started slipping out of my left hand, it didn’t worry me but I knew something was wrong, especially when I couldn’t turn on the shower at home or the taps.

Then i went to a cash point and I couldn`t pull the card out so my wife made me go to A and E. They took an xray then immediately sent me to Walton Hospital Liverpool telling me they were better equipped to deal with this type of thing as they put it!.

I went to Walton Hospital, Liverpool in November 2011 where I had nerve conduction studies and an EMG, the doctor then told me something was going on as I had trapped nerves in both arms and legs , by this point I had lost all my motor skills in my left hand. She told me she thought she knew what was wrong but didn`t want to scare me, that really helped lol!  She also told me my legs were affected to which I told her they were fine, to be told , sorry but they wont be.

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My Experience of HNPP: Ms P, UK

I was diagnosed with HNPP 6/7 years ago.

Since then over the years I have had quite a few symptoms I.E Pain (some neurologists do not associate HNPP with pain) ‘burning’, pins and needles, numbness, dizziness and exhaustion.

I have been on many different medications, had operations on both hand’s (carpal tunnel).

I am now in the middle of a 9 week pain management course learning that chronic pain can not be cured, so we are learning diversion techniques, meditation, gentle exercise.

Some people with HNPP get none or mild symptoms. I have also got fibromyalgia and some doctors think that there is a link to HNPP .

 

My History with HNPP: Mr. L, Wales, UK

I was diagnosed with HNPP (Hereditary Neuropathy Pressure Palsy) in 2000/2001.

I was diagnosed via an orthopaedic surgeon, who was assessing my son for suspected ulnar nerve palsy. Because of my previous history of similar symptoms and the fact that my son didn’t have signs of entrapment on the x-rays of his arm, we were given Nerve conduction tests, which prompted a DNA test confirming that I had the pmp22 deletion and HNPP. I was 41.

My first symptoms were as a young child after using scissors, ie numbness in thumb and forefinger where pressure of scissors was most felt. Numbness took a while to fade but initially cleared up within a few hours.

At the age of 16 I went over the handlebars of my bicyclce. I landed on my head and left shoulder, my arm was instantly dead, no movement possible. It took almost a year for full painfree movement to return. I didn’t see a Doctor about it, embarrassment and the fact that I could continue with my school studies as I was right handed. A dead left arm makes a good paperweight.

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