Hereditary Neuropathy with liability to Pressure Palsies or HNPP

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How about these apples? So after stating my Chronic Maternal Guilt Syndrome that is due to my pain – it now increases to my gene pool passing to my child.

When I was little I used to have cold feet all the time. I always went to bed with a hot water bottle, socks and loads of blankies. When I was about 7 or 8 years of age – I started getting brutal growing pains in my knees.

In my teens I was an active skier – racing and instructing – and I was given anti-inflammatories for the pain in my knees. My femurs (thigh bone) was inturned and rubbed against my Patella (knee cap) and was causing pain. Other people are called “Knobby Kneed”.  Episodes of  blinding pain in my back started, lasting about 3 minutes. There was no explanation, warning or reason – it would just happen. Strong deep aches in my right elbow started to occur and I would have to massage it or just ride it out.

In my ’20’s I got carpal tunnel syndrome from doing repetitive administrative work. (A B.Comm and $30k in student debt to put data in a computer and file things alphabetically – the job sucked). I used a wrist brace and would just take breaks every now and then, didn’t go to a Dr. for it.

In my ’30s during pregnancy, I had sciatica because I had enormous babies resting on my spine. Bladder too, but peeing my pants when I sneezed or laughed – seemed like something that just happens to pregnant women.

I was 33 when I had the epidural – which triggered my Chronic Neuropathic Pain. The majority of my pain, travelling along the entire right side of my body. Strongest  in all the places I had experienced pain during my life. It was like it was the “Red Button”  got pushed and a bomb exploded in my Central Nervous System.

My youngest daughter is built like me – slightly knock kneed and her right foot is turned in a little. She has always been a little wobbly – gross motor skills not her forte – but not cause for concern. We call her our Little Bumbler.

Last Spring, she started to complain her feet were “fuzzy”. I asked if they felt “prickly” – she said yes. Soon, about 2 – 3 times a week she was complaining that her foot was hurting. At her annual check up, I asked my old Useless GP  about this. He did a joke of a spinal assessment – having had about 1,000 of them, I am familiar with the process. He said, “it would be silly to do this, it is just numbness – no big deal.” Ok, now with my history – MAYBE – some further investigation should be done? Also, it isn’t normal for a child to have their foot fall asleep that often.

The complaints started about aches in her knees and lower back.  I found a new pediatrician. He took my concerns seriously – and referred me to a Pediatric Neurologist. I am not panicked – but I want to rule out anything seriously wrong and/or prevent her from being like me. I think that is fair?

 The Pediatric Neurologist was lovely. He did a good evaluation and has requested further blood tests to see if she has – Hereditary Neuropathy with liability to Pressure Palsies or HNPP. He said based on my history, I should be tested too.

So, off I go to another neurologist to ask for a blood test to check if I have the gene. My daughter will have the same test.

 I asked him why hadn’t any other Neurologist tested me for this before – or even mentioned it? He said – it is rare and a lot of these rare or different Neurological problems – are just not considered and you get a diagnosis of “Fibromyalgia” or something like that. My impression of his opinion – he did not state this clearly – but that Fibro is a diagnosis given when the symptoms are unique, strange or not conclusively easy to diagnose.

So what is HNPP?

Hereditary Neuropathy with liability to Pressure Palsies or HNPP is a slowly progressive, hereditary, neuromuscular disorder which makes an individual very susceptible to nerve injury from pressure, stretch or repetitive use.

 When injured, the nerves demyelinate or lose their insulating covering. This causes episodes of numbness and weakness in the injured area, which are referred to as the ‘pressure palsies’. These episodes can be mild and more of a nuisance than anything, or so severe almost all movement in the affected limb is impossible. They may last several minutes to months. Because the symptoms can come and go, and most neurologists have not yet heard of or seen a case of HNPP, it can be very difficult and lengthy process to be diagnosed.  – source:.

 Symptoms of HNPP:

  • Weakness—unable to move an entire limb
  • Unable to use certain muscles of the arm (can’t reach, wash hair, eat) or hand (difficulty gripping things or grasping small objects) or face
  • Episodes of numbness, weakness or tingling that do not go away
  • Leg/ankle foot swelling
  • Fatigue
  • Muscle cramps
  • Diminished or absent ankle reflexes

These symptoms are also present in the face of many different Neuropathies. They may also happen in some people and not in others, they also vary in their severity. Some patients don’t have any pain, while some have severe pain. It can last for a few hours or a few months. A patient may have one, two or all of the symptoms. It is a little elusive and difficult to track, diagnose and treat.

Genetics of HNPP

This is a Genetic condition; both male and female persons are equally affected. A child has a 50% chance of inheriting this disease. About 2 in 100,000 persons are affected.

The depletion of the myeline on my nerves, I am sure, has significantly contributed to my pain. Again I ask the question, after seeing 3 different Neurologists, why didn’t they even mention this. Now, I don’t know if my daughter or myself have it, but it seems to make sense to me. There is no cure for this and she will have to learn to live with it like I did. However, maybe she doesn’t get an epidural or doesn’t take a job with repetitive motion or if she does have a physical trauma – I will be armed with the information of this condition – which may help her treatment and recovery.

If it wasn’t enough that my Chronic Pain has impacted their little lives in so many ways, now I may have passed this on. I know there is nothing I can do about it, but be prepared. Besides we don’t even know if we have it or not, but if there was one thing I have been received of, is that the pain was mine (physically) not theirs. I cannot bear the thought of her living like this. My sweet little baby – I just pray that she doesn’t have HNPP and if she does – it never gets to this stage.


20 thoughts on “Hereditary Neuropathy with liability to Pressure Palsies or HNPP

  1. Did anyone in your family have these kinds of health issues? Just wondering as if there is a 50% chance of passing it along, and you do have it, someone else in your family should have at least some of the symptoms.

    I do hope you and your daughter DON’T test positive, but should either of you, you are armed with information not available to you when you were younger. There may be ways to keep your daughter’s condition mild and signposts to watch out for. The fact that an organization exists, despite the rarity of the condition, may mean you will be part of a community from the start.
    At the time you were having children, no one had linked together your health issues, so you had no way of discovering the existence of HNPP. Perhaps then, too, there wasn’t a test available. Alot of the generic marker tests are quite recent in their development.
    Please don’t beat yourself up too much; tho I know it’s a mother’s way to worry like that.
    Please let us know how the tests go. I will keep you and your daughter in my thoughts.

    1. Hi,
      I think that probably my Aunts had it and some others – but b/c it has been part of my body since birth and didn’t ever impede anything I did – or they did – it just never came up. They also say that tingling in the fingers can happen to someone with HNPP one time in their life – where it could happen to someone w/out it more than once?
      I did find a few websites that were helpful – but really – having the info could help me find another piece of the puzzle to my complicated situation – and maybe someone out there who got a Fibro diagnosis – has this – which may provide more treatment options for them – rather than just taking Gabapentin or left to suffer with the pain.
      You are right – there is only one way to test for it – Blood – and many Neurologists don’t investigate it b/c the symptoms aren’t present when at a consult.
      As we all know – you have to kiss alot of stupid/lazy/poorly updated/simple or just plain Drs. before you find one that REALLY gets the Patient.
      I am just thankful that this Pediatric Neurologist is a nice, good guy who took my concerns seriously and didn’t make me feel crazy.
      Thank you for your kind words, as usual you are a terrific support.
      Your package is coming – I just have to get some ingredients!!! K

  2. I have my daughter for five years with back pain and doctors say it is fibromyalgia. Really not understand how a little of this age may have this disease. They already prescribed vicodin to sooth pain and at least it this quiet. Do I have searched online and Findrxonline information mentioned that this disease can have a baby from mother’s womb is a disease that has no direct or congenital reason it, someone can provide me more information…?

    1. I am very sorry to hear that this has happened – I would get a few opinions about your daughters condition. I am not a Dr. and have no Medical Advice to give you. The only advice I can give is as a parent – you should go to as many people as possible to find out what is happening and why.
      From what I know about Fibromyalgia – is that it is sort of an Umbrella term – that covers pressure points in the body, pain that can’t be explained from an organic source and has no cure – but treatment methods.
      I would also check out some Fibromyalgia sites and see if you can find some answers there.
      HNPP – might be something to bring to your Dr. as a question. Make sure that you are with a Dr. you are VERY comfortable with.
      I wish you all the best and hope your daughter finds relief.

  3. I was just diagnosed with HNPP.
    3 years back at age 42 I started to have “numbness” in my toes which spread up both legs to just below my knees. A few weeks later I started getting electric shock like jabs all over my body and also started getting bad pain in my left foot and left lower back.
    My GP sent me for MRI’s which showed nothing. He sent me to a Neurologist who did a nerve conduction test that showed “some nerve damage to my feet”. They put me on Lyrica which took away the electric shock like jabs but not the pain.
    After 2 years I got a second opinion. The guy guessed it was HNPP after my second visit and confirmed it last month with a genetic test with Athena Diagnostics.
    I am getting used to the pain. I use hot water bottles and some rubs like Tiger Balm. I have a prescription for pain killers but keep them as a last resort. The worst thing that has happened because of HNPP was when fell asleep for 5 hours on a plane in October 2009 and when I woke up I could not lift my left wrist. It was completely limp but no pain. I had compressed the left radial nerve badly. Fast forward 13 months and I have about 95% feeling back. I still cannot lift heavy objects.

    Richard Slater.

    1. I’m a 54 year old female and after much pain, weakness, and over ALL fatigue, I to saw between 6 to 8 different Dr. and had 3 nerve conduction test which were so bad that after the first one I went to another hospital and they looked at the finding,, thinking someone didn’t quite know what they were doing so let’s ordered another one, well it came back as bad or worst. Nothing doing but Let’s get another Dr. to do this himself. He did and it was Bad. So after giving my HEALTH HISTORY for what seemed the 78th time, the idea came up Let’s Test for HNPP!! So they did same place as yours was done and about 2 weeks later in the latter part of 2011 I to was given the Very Heart Breaking News that the test came back that I did have HNPP. My life has became a living nightmare. I’m a strong Christian and I have my Faith to hold on to in and through this Very Painful ordeal.

  4. I am a cellist and pianist, and I have HNPP, mostly in both my hands, and this has been my downfall. Every surgery I have seems to backfire and make any and everythng worse. I had to give up both instruments, not to mention pick a new major, because of HNPP.

    1. Hello,
      I was diagnosed with HNPP 7 years ago but have had Chronic Pain for over 13 years. The pain is accompanied by numbness and cold feet. I have even caused my private parts to go completely numb while sitting at work, then have had to go through the horrific tingling, stinging pain you usually get when your leg or arm falls asleep and wakes up.
      Anyway, I was reading this and a couple of things caught my attention. Kat: I too have had surgeries which have caused more pain than help. These were all done in the first four years of symptoms before diagnosis. Since then I have been told that a person suffering from this disease should NEVER have surgery to try to fix it. The surgery can do more damage to the Mylan sheeth that is supposed to be protecting your nerve! Since this is a fairly rare disorder it is not well known about and the Dr’s are slow to help with the pain since pain only affects about 10-15% of the sufferers and then only a few percent have severe pain. Unfortunatly, when we let a surgeon go in and damage our nerves all bets are off. We no longer suffer from rare Chronic Severe pain from a rare disease. We also have been damaged from a surgeon which is extremely difficult to explain to a family doctor who is the one who prescribes the medication we need to live a productive and happy life. This leaves us in trouble because we need to suffer for months and years waiting for proper medicine. I have trouble sleeping and I have trouble living. I have recently had my 2 children tested for the gene mutation and both of them have picked it up. I really hate to have them suffer with the pain and limits of this disease but I will be there from the start educating them and their doctors about the dangers out there. first and foremost, stay away from the surgery,. it is not worth it.

      1. I am so sorry that you have suffered so much. I know from some of my research that the symptoms are difficult to find and diagnose; as they don’t necessarily present at the time of a Dr. visit. HNPP also can have varying degrees of severity, so some people may have it and not even know it and others have it like you.

        I haven’t heard of surgery as an option until reading your comment as it seemed that it can’t really do anything to help.

        I hope that more discussion about it will lead to more understanding and it will help us find a solution.

        Thank you for commenting.

      2. Hi Rick, I don’t think that the surgeries, have anything to do with making the problems with HNPP worst. I had surgery on both my wrist and it was and still has been GREAT. It was 12 years later that my elbow and down my arm to my ring finger and pinky started giving me trouble. That I had surgery, Then after the surgery my doctor told me ” Ginger, I don’t know what is wrong but you have something going on that is NOT right. Your Nerves are suppose to be designed like that of a ROPE, Yours are like that of a FRAID MOP. I don’t care what you have to do or how far you have to go BUT Don’t Stop until you find out what is Wrong with you.” The surgery he did worked out Great and I’m Still Glad I had It Done Really I think having the surgery was apart of helping find out that I did have HNPP But. It was 4 yrs. after this surgery until I found out that I did have HNPP. I think that if you have surgery and it doesn’t HELP or LAST, that’s when you are advised NOT TO HAVE ANYTHING MORE DONE. I have a son 34 and a daughter 27. Both of them WOULD NOT BE TEST…I think after knowing I have it,,, Being them,,,,, I would NOT want to know if I had it either. If they Did, That would be kinda like I KNOW I HAVE CANCER,, I Wonder if that Pain I Feel in my Leg is Bone Cancer? Yea, I Bet It Is…. They said If They have it, and KNOW It IT would Just Be Something to just Worry and Think About,,,, Because Really Knowing it ,,,, There’s Nothing you can do about it BUT WORRY…. I Hope Nothing But The Very Best For Your Girls!!!
        Ginger Fowler

  5. I have HNPP, was diagnosed about ten or more years ago, and have permanent numbness and stiffness in my left hand, with a lot of electric nerve “jolts” that shoot through that hand and forearm. The jolts come when I have my hand at rest: lying in bed, watching TV, sitting for a long while. Out of nowhere comes a painful jolt, like being hit with something akin to a taser or getting an electric shock. I sort of feel the shock “ricochet” throughout my body. An echo. Not as intense. But it’s as if the working out of the electric shock has to find someplace to go in an instant to fade out, like the way lightning spreads out when it hits the ground.

  6. I had surgery for Carpel Tunnel, which I also have, but it did not make the numbness go away. I’ve kind of lost hope. I tried gabapentin (Neurontin) but I don’t think it really did much to help.

    1. I didn’t find that Gabapentin or Lyrica helped at all. Dr.s even asked me to take LARGER quantities of it????? Uh What???
      Don’t lose hope….I firmly believe that there is something out there, it just takes time to get the answer.
      I hope you are having a pain free day.

  7. Hi there,

    I was reading your article about Hnpp and was wanting some advice on whether Perineal Nerve Decompression surgery is dangerous for people with HNPP.
    My left foot has become considerably weaker than the right and have been on waiting list for surgery for almost 2 years. Is it known to make things worse?

    I can’t afford another consultation with neurosurgeon..
    Hope you can help.

    Many thanks,

    Will conley

    1. I am so sorry about the delay, I have been off line for a while due to my illness. I could not speculate on that. I think it best that you seek counsel from a Neurosurgeon. Sorry I can’t be of anymore help.

  8. I wonder about the real prevalence of HNPP. It seems to be much higher than 2/100,000 based on the number of postings on various sites, and the number of people I’ve encountered with symptoms. We recently found out that a family member has it, but we have no idea where it comes from. I understand that it could be sporadic. If not, I feel fortunate that we would never have known of it running in the family, if not for testing. I can point to a few episodes of numbness, but who can’t? I hear people complain of extended numbness, etc., all the time. Who hasn’t? It’s been hard because reading about HNPP often creates new concerns. I feel like I’m always looking for symptoms now.

  9. Something to consider before getting the genetic test…insurance. After ten years, two carpal tunnel surgeries and two major episodes of thoracic nerve damage, a neurologist specializing in peripheral neuropathy nailed down HNPP. We discussed getting the genetic test to confirm. She said that if I wanted life insurance I should get it before getting tested – a positive diagnosis would put my ability to get insurance at risk. She was right. I applied for life insurance before testing and they wouldn’t let me have the permanent disability rider on my policy just because the recent MRIs and neuro visits red flagged me. I have now decided against getting the genetic confirmation. I know I have HNPP and that’s good enough for me. My children will not have genetic testing either (unless they decide to as adults). If they have symptoms (not all HNPP carriers do), we will know that this is likely the issue and will work with the dr to deal with it. I wouldn’t want to affect their future chances of getting insurance. Each family needs to decide what testing is right for them…this is just another “hidden” issue to consider.

    1. Thank you for your comments, insight like that is extremely helpful. We are in Canada, so we don’t experience the same restrictions that you guys do. I think it is incredibly unfortunate that your Healthcare system works the way it does. You all should have access to the appropriate healthcare that is best for your entire family. I am sorry that you have to go through that.

      I hope that you have a pain free day.

  10. I have been living with HNPP for over 18 years. Everyone has the pain and I’m sure you also say “oh I’m fine today” was on the same medication for at least 16 years then I develope an allergic reaction to that medication then my life went to hell in moment. While trying to find another medication to help blood work was done that’s when they found out I had an auto immune disease All I can say is don’t give up yet have faith and push forward. Bless all your hearts because sometimes if people can’t see gushing blood they think you look fine. I have three children and I try to keep them inform. However kids will be kids. I always thought I had a high tolerance for pain little did I know!!

    I however had a wonderful Nueologist that found out my problem from the beginning and then sent me to the Mayo Clinic to confirm along with the genetic test. My nueologist did have my best interest at heart. A good Dr is the number one key for sure.

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