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.
In my early 20s I had continual problems with sensation loss and mild weakness in the ulnar distribution. I was rather worried about reporting this to a Doctor due to the fear of being disbelieved or worse accused of attention seeking or other mental illness.
During the following 10 years or so, my health was reasonably good, except I had unexplained hearing loss, tinnitus and some balance issues. Occasional unexplained episodes of foot drop, and the continual problems of ending up with dead legs and dead arms due to poor positioning with the resulting extreme episodes of pins and needles during recovery, were annoying but seemingly trivial. Of course most people when asked have experienced this, but the fact that I was unusually prone to this and my recovery seemed to take much longer than other people didn’t really occur to me.
At age 32, my problems with hearing loss and vertigo, really took hold and I was diagnosed with Meniere’s disease. This really knocked the stuffing out of me, my general fitness declined and due to the sudden change in my routines and behaviour caused by the illness, I became more prone to the episodes of transient sensation loss and transient weakness, and the ever present pins and needles. But it was the meniere’s disease which occupied most of my concern. I had sensation loss occuring in so many diffesnt places, often these would last weeks if not months. Hip, scalp, patches on my feet, front of my shin, heels, little and half of third finger, thumb and forefinger, elbows and forearm. Over the next few years it just seemed to breakout all over the place. Weakness would come and go and mostly affected my feet and ankle, knees, shoulders, and hands particularly when trying to use hand tools.
I think I was in denial, I didn’t want to recognise these symptoms. An ex-nursing colleague of mine, who had been working on neurosurgical wards, had said to me that my symptoms could be serious and that I should see a Doctor. But I blanked that out, I didn’t want to see a doctor about it, and I just hoped it would all go away. I already had one major illness (meniere’s), I just couldn’t process the idea that I might have another.
I began to have serious problems with my lower, mid and upper back. Episodes of intense pain, pins and needles, and patchy sensation loss. It became a big problem due to the extreme pain. eventually my GP suggested I had pinched thoracic nerve roots which were causing the extreme mid back and chest pain. It made sense to me. So I tried to take up exercise to help improve my posture, which I felt had worsened from years of dealing with vertigo and balance problems. Unfortunately, all exercise, even exercise which is supposed to be gentle, ie tai chi, chi kung, and yoga, seemed to exacerbate the problems with my back.
Then the HNPP diagnosis came out of the blue. At first I didn’t bother asking to see a neurologist, but as I began to piece together all my previous hassles with palsies, and my continuing back problems, I requested a referral. I wish I hadn’t bothered to be honest. They haven’t ever been that helpful.
Since diagnosis, I have had episodes of foot drop which have been more persistent, one episode lasting almost 3 years. Eventually I had an AFO and custom insoles to help support my high arches, and with time my foot drop improved, but my feet remain weak to this day.
My back problems, and the neuropathic symptoms I experience with them remain the biggest problem. And finally after 14 years of asking, my most recent neurologist agreed to send my for further testing, however, he admitted that neurology and neurologists are only interested in diagnosis, but to give him his due he has referred me to neuro-rehab, along with these MRIs for my back. It’s a pity neurologists are only interested in diagnosis, they could learn so much about HNPP otherwise, but as they only look for painless pressure palsies, it’s hardly surprisng that HNPP is so underdiagnosed, estimates suggest only 10-20%. And I think it’s going to stay that way until neurologists look beyond diagnosis only. I still can’t get over his admission, I’m not sure any other branch of the medical profession has that attitude to their work. I’m almost speechless. Oh yes and to drive home the point, I wasn’t diagnosed by a neurologist…