Tomorrow is….

Tomorrow is the big day. My first neurology appointment for 6 years or so. I haven’t really set my mind to what I am going to say, and which problems I want to discuss. I suppose it has to be first and foremost the problems with my shoulders and upper to mid back. After all it was these problems that first prompted me to ask for a neurology appointment after my son and I were diagnosed with HNPP. That might sound odd, but I wasn’t diagnosed by a neurologist, my son and I had seen an orthopaedic surgeon in relation to my son’s ulnar nerve entrapment, or what was thought to be ulnar nerve entrapment. There was no entrapment, and familial history suggested hereditary neuropathy. Nerve conduction tests followed, then the DNA test. All without seeing a neurologist.

My son was first to see a neurologist, I thought it better that he was seen first, without any influence from me as I have other health concerns. In fact I didn’t see much point in seeing a neuro, until I had a recurrence of the mid-upper back problem that had been troubling me on and off for the previous 10 years. Several years before we were diagnosed,  my GP came to the conclusion that my upper back problems were due to a pinched thoracic nerve root. It made sense at the time. And was actually quite reassuring as it wasn’t anything more serious, like coronary disease etc. But now with an HNPP diagnosis, having a pinched upper thoracic nerve root seemed like it could have more significance.

My son seemed to see quite a cautious but thorough neurologist, one who decided that further scans were necessary to check that my son didn’t have any other reason for what appeared to be sciatica. An MRI was done, and nothing particularly unusual was found. So the problems were attributed to HNPP.

I was feeling quite positive about seeing the same neurologist, I thought there would be a good chance that I would have scans on my back, to check for any physical reason for entrapment of spinal nerves. I realised with HNPP that it was probably not the case, but it would be good to know for certain.

Two weeks after my son’s appointment I roll up at the hospital to find that Mr. Neuronice, had been replaced by Mr. Neuroarrogantknowitall. Who immediately dismissed all my problems as a figment of my imagination. I should have complained there and then, the guy was a complete arse. But I let it roll thinking that perhaps by my next appointment he would have had the courtesy to actually look up HNPP to see what it involved. Not a chance. Another appointment six months later and I’ve been relegated to see the junior Doctor. Who was pretty good in all fairness, but it was the other jerk I was gunning for.

I then asked to see Clinical Genetics again, as I was worried about my elderly mother who had been having some very similar symptoms. They were very nice on the phone, and suggested that they could see us both to discuss the problems. Hooray, I thought… But on arrival at the clinic I was immediately confronted with accusations of attention seeking. I was furious, but could not say anything with my mother present. I left there feeling so isolated, with a disease that know one seemed to care about, and symptoms that were being dismissed without any further investigation.

It was at this point that I contacted the Muscular Dystrophy campaign in the UK. Although HNPP is not a muscular dystrophy, it is an HMSN (hereitary motor sensory neuropathy) and is one of the conditions supported by the MDC. The care advisor contacted me and arranged for me to be seen at the ‘Muscle clinic’, which sees patients with neuromuscular disease.

There was some improvement, I was referred for for tests, x-rays on my chest which I thought were for my spinal problems, and referral to an orthotist for assessment of the problem with intermittent foot drop. The x-rays were looking for lung disease, not spinal issues, but whilst that still left the spinal issue unresolved it did lead to a referral to a respiratory doctor and eventually treatment for COPD and asthma. It was also found that I had a slight neuromuscular weakness of my diaphragm and other respiratory muscle.

The Orthotist immediately recognised my problems of foot drop, just by looking at the wear on my shoes, and noted that a very high arch needed supporting. I was given an ankle foot splint to help wih the foot drop, which immediately enabled me to walk in a better way. Unfortunately, the wait for this help had caused me to develop Hip problems because of the very altered gait to accomodate the foot drop.

Unfortunately, the neurologist who was working at the ‘muscle clinic’ left to work elsewhere, the local health authority decided that it no longer needed and muscle clinic, and within 18 months of being referred to the clinic, it was no more. I was assigned back to general neurology. And back to neurologists who quite frankly do not understand HNPP and have no interest in learning about it. It seemed that their view was that they had far more important things to do than learn about a ‘mild’ disease which had no treatment or cure anyway. There was nothing in it for them, no gongs, no plaudits, no interest. I felt nothing more than abused and humiliated by them.

At this point I had had enough, and decided to put in an offical complaint. This led to some form of resolution with Clinical Genetics, but as far as neurology was concerned I had come to the conclusion that there was nothing worth pursuing. It seemed a better idea to just let the yearly appoinments lapse, and not bother to see them for a good long while.

So here I am 6 years later, and I’ve requested a neurology appointment. The good news is that after much campaigning by the MDC and service users in the south west region, the NHS has reinstituted the neuromuscular clinics. The South West Neuromuscular Network has been set up.

The symptoms that have prompted me to try again, are

1/ the continued problems with upper-mid back, neck and shoulders, which are getting worse. Eleven years on from my first request to see a neuro, and I’m still waiting for them to address this problem!

2/ The start of what appears to be something akin to trigeminal neuralgia. Facial pain, numbness, and headaches.

3/ Further problems with vertigo, tinnitus and hearing loss, probably due to deterioration of my good right ear.

4/ Hip pain and upper leg weakness which has not fully resolved over the years.

5/ And difficulty in maintaining any form of exercise schedule due to continual problems caused by exercise, ie sudden weakness and sensation loss specific to the exercise. My respiratory nurse specialist has suggested I bring this up, as he has suggested further respiratory rehab sessions, but I cannot maintain them becasue of the problems HNPP gives me. Generally I would like to start some coordinated therapy which is on-going and able to adapt to my needs. Mostly, what is offered are 6 week courses, or 6 week sessions of physiotherapy, and then there is very little follow up. I need more continuity than that, something which will build over a period of time, and which is flexible enough to cope with my ever changing conditions.

Tomorrow is N.Day…


4 thoughts on “Tomorrow is….

  1. good luck Jon…..I do believe I have seen your doctor….Mr Neuroknowitall, or poss his brother, Neurothinksheknowsitall, or even cousin, Mr Neurothinksheknowsitallmyar*e….will be thinkin of you xxx Ali(StH-UK)

    • Thx Alison. Yeah, there’s lots of them around, the NeuroKnowitall family… (I really wanted to use a more expletive ridden term, but thought better of it..)

  2. Hello Jon,

    I have a friend who is 15 weeks pregnant & has recently been told her baby has HNPP with a deletion level of 1.3MB. She is naturally struggling with trying to understand what this might mean for her child.

    Do you know what the measurment of your HNPP is? I guess we are looking for an idea of what the symptoms would be for this type of measurement.

    We have been told that the measurment of HNPP can have a measurment in the deletion of chromasone 17, of up to 20, so 1.3 Mb deletion seems like a low measurment.

    Can you help at all? even if it’s with any other links or blogs other than the standard site for

    Thank you so very much for sharing your story, & strength & light to you with your journey.


    • Hi Kim,
      I’m not sure what your doctors are saying is correct, though perhaps I misunderstand the situation.

      The most common form of HNPP involves a 1.4 Mbase pair deletion on the short arm (p) of chromosome 17. as far as I know this is the largest deletion known to cause HNPP. That doesn’t mean it is necessarily the most severe form of HNPP though. This deletion completely removes one copy of the PMP22 (peripheral myelin protein) gene, so that only one copy (on the other non affected chromosome) is able to help produce peripheral myelin. This causes the neuropathy.

      There are other types of HNPP which are much rarer which only causes a very small deletion or single base pair change in the PMP22 gene. Often these forms of HNPP are much more severe. The neuropathy in these cases is not caused by just a lack of PMP22 due to only one pmp22 as in the common form, but by causing a toxic affect by altering one copy of the gene. Sometimes this causes a more severe form of either HNPP or CMT1a or even a neuropathy with elements of both diseases.

      I would think that if your friends baby has got the 1.4 (1.3) Mb deletion then this would be the milder form of the disease.

      HNPP is very variable. and it is quite under-recognised and under diagnosed, and this seems to be partly due to a large number, maybe upto 80% of the projected number affected by HNPP who have such mild symptoms that they never get diagnosed. Even in those that are diagnosed the range of problems caused by HNPP varies greatly, with many only experiencing ocassional loss of sensation and strength in hands arms, feet and legs, which only progresses and becomes troublesome as they reach middle and old age.

      Although I wasn’t diagnised until age 41, I had early mild symptoms from the age of 7 onwards. It wasn;t really a big problem for me, and I enjoyed sport and had a good and active childhood and young adulthood. Most of my problems with HNPP in my 20s and 30s were mild and mostly caused a problem because I didn’t know that I had the disease, neither did my Doctors or my employers. Sometimes knowing that the disease is present can really help.

      My blog might give the impression that thigs can be really bad, but that is not so most of the time. My own particular problems have been accentuated by other diseases, and not knowing that I had HNPP. Again I must emphasise that HNPP is not a severe illness, but it is much misunderstood, and often misdiagnosed or undiagnosed.

      I would suggest that your friend seeks advice and help from either a clincal geneticist or a neurologist who has a specialist interest in Hereditary neuropathies.

      My basic page on HNPP_UK has some links which may be of interest, some maybe a little out of date and there might be a few ‘dead’ links. I must get around to updating it sometime.

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