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.

A letter came saying after reviewing my nerve conduction studies I would best be dealt with by a neurologist who then preceded to send me for the genetic bloodtest for HNPP, it came back positive, I received the letter confirming it on 22 may 2012.

In a way it was bittersweet, at least I knew what was wrong with me and it could have been worse but was still gutted that I had a disease even my own GP had never heard of.

Next step genetics, who explained it all clearly how my children could inherit it, and made all the referrals I would need which included a neurological physiotherapist ,an orthotist, someone who specialises in the use of devices to help support weakened joints.

My eldest has tested negative, she’s 16, my younger two remain untested, my girl, 12 and my boy 7 years old.

By now my legs had started hurting and my feet had developed a burning /stabbing pain which had become unbearable, I remember in Drayton Mannor park with the family having to sit regularly and just watch as my feet were in agon, remembering back to when the doctor told me I would have problems in my legs.

I visited my GP who prescribed me gabapentin (neurontin) which did not work, he then tried a combination of lyrica and tramadol which did the trick.

By now I had joined the facebook group HNPP HELP ,which has been a godsend and met some amazing people on there.

My left hand had started recovering and I foolishly bought a multigym only to find 4 weeks later my hand was useless again, it has never recovered since and I am very limited what I can use it for, if you keep damaging the nerves they will eventually be permanently damaged.

The disease has been quite progressive for me turning me from an active person to virtually someone scared to exercise because of the damage already caused.

I cannot walk far being a combination of leg pain and weakness, my legs tremble and so do my arms if I lean on them, I have a very noticeable tremor and on my left hand my little finger and ring finger will not extend, they are curled in.

Pain, ah, the baine of my life, I experience it all over from muscles that ache to nerves that cause sharp shooting, burning pains, I get fasciculations all over my hand which are also a sign of serious nerve damage, maybe axonal my GP said.

Cramps are a nightmare too, oh it`s lovely this disease doesn’t like to leave you without nothing.

The pain meds I now use are pregabalin (lyrica), tramadol and oramorph for breakthrough pain if it gets really bad. I use clonazepam which helps with the painful cramps/spasms.

Physio gave me crutches, which you really should not use but I have been left with little choice and a wheelchair if I need it, at times my wife thinks it would be easier if I did use it but at 38 years old I will hold off as long as I can.

My hobbies now include gardening, wildlife and I have 3 dogs so plenty to do lol!.

I have a beautiful wife who I love dearly and 3 gorgeous children, I often wonder if I’m a burden to my wife and even if the shoe was on the other foot i would never consider her a burden but still, I can’t help the way I feel. Some days I love life, other days not so much but the good times outweigh the bad.

I hope people reading this will understand how variable HNPP can be, some are affected mildly, others a bit more, and even then you have good days and bad days, I’ve had to change my life because of HNPP but I believe it has made me a better person all round, able to now appreciate the little things that matter, and lastly I pray everynight that all my hnpp friends will be as comfortable as they possibly can be, hope you enjoyed reading my little bit of life.

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About leaf27

58 and feeling older

Posted on August 9, 2014, in Case Histories and tagged , , , . Bookmark the permalink. 15 Comments.

  1. Hi
    I was told I had HNPP almost 4 years ago. I had a B12 injection after which I lost the use of my left arm for 18 months and was in total agony. Talking to my doctor and the hospital consultants was a complete waste of time. I last saw a ‘consultant’ 10 days ago. He told me HNPP sufferers don’t get pain! And that when you have HNPP it does not get any worse whatever that means. I suffer from muscle pain, (cramps) in my legs, feet, lower back, hands. Burning pain from lower half down, numb hands, stomach, toes, and left side of my head. I also feel tired and breathless at times. May as well go talk to a brick wall as far as doctors and consultants in East Yorkshire are concerned.

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    • Hello Marie.

      I too have been diagnosed with HNPP, in 2014. My sister has it too. She was diagnosed about 15 years ago. She kept falling and at first her doctor thought that she had Multiple Sclorosis. They tested her and found that it wasn’t MS. Eventually they sent her to see a Mr Ming at HRI Hull. My sister had a blood test (DNA) and Mr Ming diagnosed HNPP.
      I had problems with numbness in my fingers and toes and my scalp seemed numb sometimes. I mentioned this to my doctor but he just prodded a pen into my hand and said…nothing to worry about. I wasn’t one for going to the doctors unless it was urgent and so I left it at that.
      I have an under active thyroid, so went to the doctors for my prescriptions and blood tests. On one of these occasions, I mentioned my numbness to him again. He said that he would send me to see a specialist as he thought that I had carple tunnel. I asked him if he could check me out for HNPP, as my symptoms were very like those of my sisters. My doctor said that he had never heard of HNPP. My sister gave me the copy of her diagnosis letter from Dr Ming and I showed it to my doctor. He asked if he could photo copy it and then he said that he would refere me to see Dr Ming. I saw him and had the blood tests and it was confirmed.
      I have not had or asked for treatment for HNPP, as I’m already on Naproxine for my osteoarthritis. But when I asked my doctor about the pain in my legs, he said, “you are already on a strong pain killer.”
      How are you coping with your disabilty? You say that you are in East Yorkshire, were you treated in HRI?
      Take care.
      Carol

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      • Hi Carol
        Yes, I live in Hornsea. I have had appointments at HRI found it to be a waste of time until I saw Dr Wong a few months ago he was the only doctor to give me a proper examination and I thanked him for that. Because I tend to list sometimes to my right side and Dr Wong found my left side arm and leg to be weaker than they ought to be he sent me for an MRI scan for M S which I had in December last year (2016) not had any word yet as to the results. Dr Wong has cancelled future appointments at HRI since I will not take the medication on offer as my body can’t cope with the side effects which are worse than HNPP! Anyway what’s the point since I waited almost two years for this last appointment.
        I dread having B12 injections as I suffered much after a B12 injection. I have recently asked if I can take B12 in another form as Dr Wong confirmed the injections can make my arm weaker as it’s injected into the muscle. but the surgery nurse said Dr Wong should have changed it if there is anyway it can be given B12 in another form she thought it could not as it wouldn’t be as strong. It was pure agony I could hardly eat at times because I found it too painful to lift a spoon or fork to my mouth.It appears that since HNPP is not well known it is dismissed as a bit if muscle pain by the establishment.
        You ask how I cope with the effects of HNPP. I just get on with it and hope I don’t suffer any more setbacks. Nobody seems bothered. Drs Armed and Nandanderkum at Hull were nothing short of useless. The latter sent to me another specialist who asked me why I was there. I told him I wondered that too. I have to say my family doctor was brilliant he stuck with me until my sister who had been adopted contacted a family member and advised them to be tested for HNPP. How do you and your sister cope?
        All the best
        Marie

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  2. Hi Marie

    I went to see Dr Ming (Consultant Neurologist) after I’d been to see a Dr Bajalan,(Consultant Neurophysiologist) who did some tests on my fingers. They were very painful and when he asked me if I had numbness in my toes, I told him, No, as I didn’t want him to carry on with the test He was putting metal rings on each finger and turning on what seemed like an electric current. I couldn’t stand the pain, so didn’t let him do it to my toes, even though, they too are numb.
    I think that HNPP is rare and they don’t know a lot about it and I don’t want to be a guinea pig!
    My sister is coping with it and is driving an automatic car, because her hands are numb. But to be honest. she can walk better than me. I have to have a walking stick and hang onto my husbands arm and in pain when out walking. I have had osteoarthritis in both knees for about 20 years and also in my spine after a riding accident when I was 18. I was on Diclofenac for years, until I read that they were causing organ failure if taken for a long time. I told my doctor that I didn’t want to carry on taking them and he prescribed Naproxen but they give me heartburn, so you can’t win! I try not to take too much medication, as I’ve read about these anti-inflamatory drugs causing liver damage and I already have raised liver enzimes.
    I get severe pains in my hands and my legs. I have had a few falls outside and then I cannot get back up, so unless my husband, or someone comes with me, I will not go out.
    I had always put these symptoms down to my osteoarthritis, until I was diagnosed with HNPP.
    I recently found an article on the BBC website, dated January 2011. The headline was, “Rare disease means I may wake up unable to move.” It is about a young woman who has HNPP, She seems to have it bad and like us, the doctors didn’t know what it was.
    My son and his son seem to have the disease too, although they haven’t been diagnosed yet I asked Mr Ming if there was a chance that they have it and he said 50% chance yes!
    Regarding your B12 injections Marie, can’t you take a B12 tablet, or better still by diet, Fish, dairy, meat etc. I don’t think that I would have anymore B12 injections, if they are causing you such problems.
    Let’s hope that they can find a cure for this disease, although they haven’t found a cure for MS and that is a more debilitating and well known.
    Take care.

    Best wishes.
    Carol

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    • Hi Carol.
      Your sons can have the test if they want to. Another sister of mine had the test and was told she didn’t have HNPP yet! You can’t catch it as you know we are born with a missing gene so unless they can find a way to replace gene I think we are scuppered!!!. So much for medics. I read a doctors paper on HNPP which stated we don’t feel pain from muscle spasms like normal folk do (shake of head).
      Dr Wong who I saw at HRI said he had never come across HNPP before and was honest enough to say he had to read up on it. Basically, I am not on any medication because as I said the the tablets are as bad if not worse than HNPP. I took Gabi thingy’s and I would have been locked up for drunk and disorderly had I gone outside – I couldn’t walk a straight line if I tried. My family doctor agreed with me better not to take them. Sadly my doctor has just retired so who knows how I will fare in the future. It sounds as if you and your sister are suffering more than I am at present. I walk a lot I guess several miles a day. My toes are numb and sometimes I list to the right and have been known to have a fall or two in the past. My back is bad though can’t bend for long without my muscles going into a painful spasm. and my fingers are often numb so I drop things if not carefu . The palms of my hands and my calfs can easily go into spasms too. My skin is very sensitive to anything but cotton so I have to be careful what material I wear otherwise it causes me so much pain just like a burning sensation. Because HNPP is rare I think it is mostly ignored unless you are lucky enough to find a medic with a special interest in it. I wish I knew where one was! I don’t eat meat or fish- never have so that’s out re B12. Nurse said tablets not string enough to work properly.
      I too have read the BBC article. Seems HNPP can target its victims in different ways. You do know if you are to have an operation you must tell the surgeon as they have to put you in a certain position to limit numbness later on.
      Please feel free to message me anytime Carol.
      Marie x

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      • Hi Marie.

        My son and his son. who I believe have HNPP, do not want to be diagnosed yet. Dr Ming said that if they have the disease confirmed, they will have to declare it on any insurance forms etc! And as you say, the medical profession don’t know much about it and what they think they know is guess work. I think that we shall have to keep checking the internet for the info and then pass it onto the medics 🙂

        Take care.
        I will keep in touch.

        Carol x

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      • Hi Carol
        The doctor’s don’t know what it’s like to have HNPP and how bad it can get. If you think about it HNPP attacks muscles and our bodies are made up of loads of them even our eyes. I had an op some years back before I knew I had HNPP and could not feel the top of my leg I I mentioned this to the surgeon and I think he thought I was making it up with hindsight it was the HNPP. Took two years before I got the feeling back. Do do hope your sons don’t have it. I can understand why they don’t want to know.
        Well it’s getting late so I had better go.
        All the best
        Marie x

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  3. Hi Marie

    How are you keeping? Have your symptoms changed since we last wrote?
    I have been getting pains in my legs, particularly at night. This is preventing me from sleeping for long. I don’t want to have to go onto sleeping pills etc. I was reading about a mattress that helps people with pressure problems and I’m thinking about checking those out.
    I found a Facebook forum on HNPP and it’s very interesting.I think that the more we can find out about HNPP, the better. At least we will probably know more than the medics!
    Hope that you are well

    Take care
    Carol xx

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    • Hi Carol
      Thank you for your update. My symptoms are getting worse. Numbness in toes and more cramps of late. Hands keep going numb and dropping more things as I am finding it difficult to feel things properly when I am holding them. Saw consultant December last he found my left side to be weaker than my right side. Sent me for a scan for MS. Glad to report it isn’t that. Not seeing consultant now as I refused to take the medication on offer which can cause bad side effects and serve only mask the HNPP.. I can go back if I need to do so he said. Dr Wong admitted he didn’t know much at all about HNPP but had read up a little on it. Just wonder how you can be treated with drugs when doctors really don’t have much of a clue about the condition?
      Hope all is well with you.Will look on Facebook re HNPP page you mentioned.
      Take Care
      Marie

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  4. Hi Marie

    Lovely to hear from you again. Sorry to hear that your symptoms are getting worse too. This disease has many symptoms, even though the medics think that it’s just a nerve disease. I have the painful cramps in my legs every night, as well as the numbness in my hands and toes,,,they seem to lock..very odd! Also Marie, do you have a stiff neck/shoulder? I have and wondered if it was related to HNPP.
    How is your walking? You said in one of your earlier messages that you do a bit of walking. Can you still do that ok? I am pleased that your scan didn’t show MS. That is what they thought my sister had, as HNPP has the same symptoms.
    I’m finding walking very hard and painful. My daughter has booked for me to go on a bus trip with her but I know that I will find it impossible to walk far. She said that she will organise a wheelchair for me but I said that I don’t want to end up in a wheelchair just yet!
    I do not blame you for not taking any drugs, especially when the doctors do not fully understand the disease, so how can they decide which medication to give you? I have been taking B12 tablets for awhile but I;m not sure if they are helping!

    Speak again.
    Best wishes and take care.

    Carol x

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    • Hi Carol
      So sorry to hear you are getting worse too. Yes I do have shoulder and neck problems as it happens. Bothered by it for years. Also I was taking B12 injections but after speaking to Dr Wong who actually took the time to read up on HNPP he told me the reason why I had really bad pain in my arm day and night and hardly able to use it for 18 months it was because of the B12 injection being put in my arm muscle I felt the pain as soon as the needle went in. I was in such pain I was forced to wear clothing that was too big so I could dress easier. Talking to so called experts fell on deaf ears. Now after Dr Wong’s intervention I have been given B12 tables to take for 2 months then have to have a blood test to see if there is enough B12 in my system. I hope there is as I don’t want to continue the injections as I could lose the use of my arm and be in terrible pain to boot. I hope anyone reading this in our position will tell their health care provider about B12 injections straight into the muscle since HNPP affects the muscles.
      I too am going on a bus trip. I expect I will be a bit stiff and my feet will have gone to sleep – well my toes anyway but I should be OK walking. Sometimes I can’t feel my toes properly but I tell myself just to put one foot in front of the other and it works – well so far. I hope so as my friend needs the wheelchair!
      Keep in touch please.
      Marie x

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      • Hi Marie

        It sounds like you have had a lot of pain with those B12 injections. Where do the doctors suggest that you have to have the injections if not in your arm? What strength are your vitamin B12 tablets? I am taking the B12 tablets but they are from, Healthspan. They are 1000mg each tablet and I take 1 per day. I don’t bother going to doctors unless I have to, as they don’t even know what HNPP is let alone what to prescribe. Maybe your doctor has found out more info on the disease. My doctor retired last year and there are two new doctors but I’ve only been twice for my blood tests and prescriptions. Maybe I should ask him next time I go, if he knows much about HNPP. There’s one thing for sure, I will not have the B12 injections!
        My daughter took the kids to Cleethorpes for the day yesterday and I went along. It was a nice day out. She parked right near the beach, so I could sit in the car and watch them play. I can’t sit down on the beach/floor, or in those low deck chairs, as I wouldn’t be able to get up again. That is because of my osteoarthritis and not the HNPP..haha.

        Speak again.

        Take care.
        Carol xx

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      • Hi Carol
        The B12 tablets are 50mcg and I have to take two each day. I must have a blood test after taking them for 2 months to see if I am getting enough B12. I have to take it because my B12 levels were very low not sure if it is linked to HNPP though. My doctors have not got a clue about the condition. It was the consultant Dr Wong who knew about any injection going straight into the muscle of someone with HNPP. Oh you ought to check B12 out I was surprised to read somewhere it is a poison and if you overdose you must seek medical attention. Looked it up as there were no instructions in my tablet pack. Must check it out properly. Believe me the pain is really bad I have had injections now for a good few years every three months it took that one time injection to cause such pain it was terrible never let up for 18 months solid. It was only Dr Wong (I saw him five months ago) who knew why this happened and that it could happen again which is why my doctor has taken it seriously.
        Just got back from Skegness today we went on a mystery trip. Glad to get back home though. Skegness is not for me but the people there were friendly.
        Marie x

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      • Hello again Marie.

        I started taking the vit B12 tablets about a year or so ago. I read that it helps with your nervous system and with muscle weakness. It recommended 1000 mgs per day (The same as you are taking) I haven’t checked with my doctor but at the time, he didn’t have a clue about HNPP, also he didn’t believe in health supplements anyway. Ive just checked up on vit B12 deficiency and it can be caused by diet, like a vegan diet. Are you on a vegan diet Marie?
        Some vitamins are passed out of your body, when the body has absorbed what it needs. I stick to the recommended doses but if I’ve had meat/fish/green veg and dairy on the day,then I don’t take my vitamin B12.
        I believe in vitamin supplements if you can’t get them from your diet, as you don’t always feel like eating or cooking a meal.
        Did you have good weather in Skegness? I haven’t been there for years. I think it must be over 30 years since I went there.
        Well I’m off to bed soon, so I’ll say goodnight.

        Take care

        Carol xx

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      • Hi Carol
        Yes I have been a lifelong veggie so I guess that is why I am down on B12. The older we get the more B12 our systems need. My memory gets shocking when my B12 is low even my friends know when I need it! I saw another consultant a few years ago and he told me he wouldn’t even take an asprin!
        Skegness felt really down at heel to me. I felt depressed and was glad to leave the place but then I only got to see just a small area close to the seafront and town. People there seemed friendly enough.
        Marie x

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