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Just what is it I may be facing? HNPP runs in the family. Please excuse my pun, we all know it runs in our families by this time. I was tested to find out if I would be afflicted or not. Turns out I am. Will I turn out as my sister or perhaps more like my father? Only time will tell. I used to think that I was the same as the man down the street or the woman over in the next block. Average. Ordinary. Now I find that my symptoms are more than likely from this ailment.

So far I have been fortunate. My arms and legs will go numb with little effort. But I am lucky to this point, the feeling returns quickly. No pain. Just "pins and needles" that everyone has experienced. There are times however when I am working around the house. Repairing things, building things, reshaping my little corner of the world. My arms tense and get sore and stiff. I can't hold my arms above my head for more than a few seconds. I have ruined more than I care to admit. HNPP? I think so at this point. When I push it, it takes time for things to return to normal.

For the most part I am not inconvenienced by this. True, I have had to modify the way I do some things. Need to keep turning in bed. Change positions when sitting down. Need to get up and walk. At 38 I am still relatively young. I have seen this dramatically affect my sister who is only 8 years older than I am. Then there is my father who has fairly mild symptoms in comparison. How will I be affected in the end? For this I do not yet have the answer.

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When I was 12, I had an episode of drop foot(left) after riding a snow mobile in an awkward position. Dr.'s were baffled - couldn't figure out what caused it and it cured itself with time.

Over the next 27 years I had little or no symptoms. I only recognize them as symptoms looking back with my current knowledge of HNPP. I had transient problems with scissors, numb shins, weak wrists, shooting pains in extremities. All of these things were very minor and came and went without much cause or effort to cure so I didn't concern myself with them. (How did I know I wasn't "normal" ?)

About a year ago I developed numbness and loss of motor control in parts of my left hand and arm after working on my car. This was followed by numbness/tingling in feet and legs. After a year of investigation I was finally diagnosed with HNPP (Age 39). Since last fall I experience HNPP symptoms to a varying degree on a daily basis. Just about any part of my body can go numb for very little reason, sometimes my legs just don't feel right (like I don't' have proper control), tingling or agitation in arms legs, don't sleep well at night and as result of all this I suffer from fatigue as well. Sometimes the fatigue is quite troublesome. I have not been able to work a full day since last August. It has also impacted on my family and home life. I can no longer carry the workload at home that I used to and that means others must carry more. I can no longer take part in some of the activities our family used to share (ex downhill skiing). HNPP touches every part of my life now.

At the same time, I know that there are others out there whose symptoms are much worse and so I try to take each day one at a time and pace myself so that I can survive better.

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 When my father was diagnosed with HNPP I knew immediately that I had it. He was first diagnosed with CMT but soon after he had the blood test for HNPP. As a child I was very clumsy, my mother brought me to the doctor thinking I had rheumatic fever because I dropped everything I put my hands on. I always felt unsteady and off balance when walking but didn't think any thing of it as a child. I remember my mom bringing me to the doctor with sore knees but nothing ever became of that.

I used to work in a factory using my hands and I had an episode where I couldn't hold my coffee cup, I couldn't get my hand to do what I wanted them to do. When I went snowmobiling my right hand went numb and weak to the point that I couldn't hold a fork to eat or cut my food up, this lasted about three months. So when my father told me what he had and said it was genetic I knew right away and sure enough I tested positive. I was 29 years old when I diagnosed and am now 41 years old.

Now my symptoms are weakness in my hands and feet. I drop just about everything I touch, I have to move slow and think about everything I am doing because I am so clumsy. I sleep with a pillow between my legs because they are so uncomfortable and wrestles at night. I wake up on and off all night with numb arms and hands. My hands also ache like I have arthritis especially after being on the computer for a while. Once and a while my face feels numb. My most bothersome symptom is the clumsiness as I am constantly tripping. I am recovering from a concussion right now from falling and hitting my head.

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About my HNPP

You asked that I explain what it is like living with HNPP so here goes

I went through years of off and on problems with my legs, feet, and hands. My right foot went numb and dropped down making it hard to walk without a brace (foot drop). I'd seen doctors for these problems and they were not sure what it was.

I had tests done more than once throughout the yeast to get an answer to this problem but it wasn't until a year ago that I found I have HNPP.

At first they said it was MS and I read all the material I could get my hands on about the subject Then I went through a time where I had no trouble, so I more or less let the research pass for then. But it wasn't long after that, that I started with more problems and began to seek out more doctors to get answers.

I was working and had to do a lot of filing and bending down to the floor, and I noticed one day that I had numbness in my legs and couldn't get my foot to straighten out. It wanted to stay bent downward. This made it had to get around and walk normally. I went to the doctor and more tests were run, and I ended up wearing a brace for awhile before feeling cam back and the foot was right again.

Frustrating is the word to use for this whole thing. There are days I feel so alone because I have never found anyone else with this HNPP and little information out there on it. I was told there is nothing that can be done about it so I just have to live with it. I looked for support groups but there were none. I tried to talk about it and family and friends didn't want to hear it. I find my family tends to ignore it and not want any information. Maybe the is denial or something, I am not sure. But I know that it hurts and I suffer alone.

I don't go too many places anymore for fear that I may get out and my legs will act up and I won't make it to the car.

To explain what happens I can say that I walk for a while and then I can feel an aching type pain in my feet and ankles. When this happens, I know to get off my legs soon for if I don't, then quickly, my legs start to feel strange and my feet start to flop and walking starts to look awful. The weight I feel in my legs when that happens makes it hard to make it to my car or take any steps. They feel heavy and sore and it make me exhausted and out of breath.

I have used a wheelchair when necessary and a cane...but try to limit my walking. Usually, if I do go out by myself, I do it for short periods of time. If I need to be out longer, I wait for my husband to take me so I have his arm and help when I do have problems.

I am enclosing a photo and I look normal in it.[Ed note: photo published in newsletter but not here] No one would know there is anything wrong with me until my legs give way and the I look really bad when I walk.

I had a few bad times when I was out more that once where I had to have two people help me back to a place to sit and relax because of my legs. And, every time I get into a predicament like that , I notice I have tears running down my eyes afterwards. It must be the feeling of helplessness or shame that make the tears come. Once I am off my legs for awhile, that are okay and I can walk again. This is such a frustrating condition to live with.

There is a positive side to this story too. I am lucky to have a husband who is willing to stick beside me and lend a hand or arm when needed. He is supportive and willing to take me places when I need him to. For those who also have this disease, I want to say keep your chin up, hopefully more information and help is out there.

Reprinted with permission from CMT International Volume 14, Number 6, December 1997


A lifetime of HNPP

The first time I was affected with HNPP was when I was about 12 years old. I was playing City League football and I was the kickoff man. About the second game, I kicked the ball to start the game and I had right foot drop. I couldn't kick the ball for the rest of the season.

In high school I played football for four years and also ran track. I was the fastest man in the state in the 100 yd. dash in 1962! I also punted for my team as well as playing halfback and sometimes fullback. Every now and then, I would get either a left or right foot-drop but it only lasted a couple of days. I never consulted a doctor about the problem.

I spent four problem free years in the air Force, receiving my discharge in 1966, and started as an electrician the same year.

In 1967 or '68, I suffered from left shoulder drop. It was treated with cortisone shots and I was told it was bursitis from old football injuries. The shot lasted about a year but I noticed the tips of my fingers of my left hand stayed numb all the time. Sometimes the right fingers were numb too. I then experienced left shoulder drop again off and on for the next three years.

In 1985, I had flu-like symptoms...a high fever one days, well the next, for about a week. I was working out of town at a nuclear power house. My left leg quit working and I kept trying to work for three more months. One morning I got to work and I was sitting down. The whistle blew for work and I couldn't get up. They took me to first aid and then sent me to see a doctor to see if it was an on the job injury. The doctor sent me to a neurologist. after all the testes were done, he said I had a total blockage from the waste down. They sent me to my doctor at home who called in a neurologist. The finally decided I had chronic inflammatory demyelinating polyneuropathy (CIDP). I was treated with prednisone for about three months. After about nine months I  was able to go back to work but never at 100%. It seems that after that I would fall a lot.

In 1995, I was working an overtime job. Thanksgiving wee I worked Monday, Tuesday and Wednesday. We had Thanksgiving day and I was off work on Friday. On Saturday morning , I woke my wife, Kay up shaking the bed with high fever. She got up to get aspirin. I was in terrible pain from the waist down. When she came back, I took the aspirin and tried to get up to go to the bathroom. I couldn't stand. I had to crawl to the bathroom. Lay called the doctor (someone else took the call). He sent out medicine. By Monday I was no better but able to walk some. I went to see my GP and he didn't have a clue. He sent me back to the neurologist who said, "Yep, you've got it again," meaning CIDP. I didn't want to take the prednisone again so I took nothing.

In January, I tried to make it back to work and couldn't make it. Kay called the Diagnostic Center in Houston Texas, and made an appointment with a neurologist there. After a series of tests, EMG, x-ray, etc., he ordered a sural nerve Biopsy which was done at Baylor College of Medicine in Houston. Dr. Y Harati did the biopsy, and when it came back, the found both onion bulb and tomaculous formation. The he ordered the DNA test and a spinal tap. The spinal tap showed that I had elevated protein levels which indicate CIDP. The DNA test showed I had HNPP. Dr. Harati said he was not willing to say I have both neuropathies. Dr. Harati ordered a five day treatment of immunoglobulin. After that, one treatment a month for six months. IT as not a big success.

During 1996, I suffered with a great deal of fatigue, still do, but at least I only take one nap a say in stead of two or three! Since 1985, I have had about 20 root canal procedures done. Does anyone else with HNPP have dental problems?

When I saw Dr. Harati last July, he told us about tow cases of HNPP. One man in San Antonio, Texas has the tomaculous in the brain. He sent me for an MRI, but I was okay. Another case he found affected the diaphragm area. Pretty scary stuff.

I left out some things when I wrote my symptoms. My toes have always been very crooked. My knees are very bony and I have swelling in my feet and ankles. My legs have atrophied, the left worse than the right. My hands and fingers have stayed numb for years as I worked.

In my family, I think my dad, two aunts and one uncle are slightly affected. The will not go to a doctor and put my illness off on plant chemical or whatever excuse they can think of. Talk about denial. My sister is affected. Her DNA test was negative but she feels it is a mutation. Se ha lots of problems but not as bad as mine. She is seeing another neurologist next month.

I was tested for diabetes and heavy metals in my blood. Everything came back negative.

Reprinted with permission from CMT International, Volume 15, Number 1 February 1998

 


Planning your future

Everyone of us knows what it's like to plan your future...for retirement, buying a new home, sending kids to university. Short-term planning for vacations, birthdays and job positioning are also in most of our minds. My family and I, Debra, my wife, and two daughters, Amy 7 and Emily 6, were all glad when I finally got a day position at my job after 12 years. I worked for the local school board as a custodian and found it rewarding, except for the fact that it was steady afternoons. With my wife working days and kids in school, we were very happy when I got a day position at a school within walking distance to my home.

Other than a numbing sensation I began getting in my fingers at the time, my health and future looked great. At 35 years old (now 39), I could now lead a normal life with my family and start looking towards retirement. Just when things look bright they can often turn grim. That tingling began to turn to pain, especially when I was working at my repetitive job. After being sent to a neurologist and having an EMG test done, I was advised I would need surgery on my arm because I had pinched nerves along with carpal tunnel. The doctor said the repetitive nature of my job was causing it. I began to worry about things in the long term and was advised by my union to apply for Workers Compensation in case things happened to worsen my condition. I was surprised when they denied my claim stating that my neurologist had stated to my family doctor that I had possible hereditary neuropathy with liability to pressure palsies. I recall thinking what the heck is that but can now even spell it out by memory.

I spent the next little while in a sort of fight with Workers Compensation, my union and a difference of opinion between doctors. The neurosurgeon I was sent to advised me that the risk factor of an ulnar disposition was greater than not doing it. Because of my possible HNPP it would probably return, and in the meanwhile I couldn't do my job, was being asked to and had nowhere to go. I was finally convinced that it was a minor operation and things would improve afterwards so I had it done. I asked my neurologist what HNPP was and I went with him into his office. After pulling out about four big books, he showed me one chapter that spoke briefly about HNPP. I was told of a DNA test that would prove or disprove that I did have HNPP. My union still wanted me to fight for my Workers Compensation and advised me that if the DNA proved positive then I would never get Workers Comp. Well I never wanted it anyway, I just want to live like anyone else, but I needed to know if I did have HNPP so I could learn to live with it. I had the test done and four months later it came back positive.

About a year from the first symptoms, I had the operation then returned to work eight weeks later. My arms at that time felt the best they had and even the numbness was going away. After only about three weeks back, the symptoms returned and it again became hard to do simple things like sweeping. Even the right arm which was operated on was becoming sore and numb again. In the meantime, I tried desperately to find more information about HNPP. We have a large public library and I could only find a few chapters. Even the Internet, which I've used for a few years now, left me alone and empty not knowing what I had or what to do. I thank God for the support of my wife who always reminded me of our wedding vows... "for better for worse, for richer or poorer."

Not being able to support my family as I had always wished to hurt more than anything. I spent the next two years struggling at work while being placed in various modified positions. I was told I was a caretaker and would have to do some sort of caretaker's work. It got to the point were lifting my arms was a very painful procedure. I could not take it anymore and learned in the process a bit more about HNPP. It is progressive so I knew I could not do my job until I could retire 20 years from now and that I should not be pressuring my nerves.

I have now been off for six months and am lucky to be getting long-term disability from my employer. I know I need to find out more about HNPP so I can adjust my life to having it. At this point, I still get pain in my arms when using them. They have not gotten better as when I was off for my operation. If anything they are now worse. My legs and feet are now being affected as well and I have pains in my knees and hips if I walk too long. My left foot is also beginning to lock in a bent position, toes bent down. That from what I've found out so far is called foot drop. (see editor's note) I've spent many sleepless nights as well because I often can't get in a position that does not put pressure on my limbs, making them hurt.

If I've learned anything in the past few years, it is that I, like most of us, should not take things for granted but take one day at a time. I'm also very thankful that what I have isn't worse. Although I may not be able to do a manual type job again, or even any at all, it really could be a lot worse. I want to thank Maureen Horton for her support. By just talking to me about HNPP, she has made a world of difference. Secondly, she started up an e-mail group (see next item for HNPP e-mail address). We all need to continue pressing the doctors to educate themselves more because the future is still grim for a lot of people who, like me, at one time had no idea what the heck hereditary neuropathy with liability to pressure palsies was, and if doctors don't know about it, they can't treat it. My doctor still advises me that the operations on my arms would help. You can't really blame him though because he is a specialist and has only one paragraph on it. From what I understand as well, perhaps because of the rarity of HNPP, he has not dealt with it before. I hope I can learn more about HNPP so I can continue my planning. I know that with support of others with HNPP and various groups I will do justthat.

Linda here - It is evident just how frustrated he is in his search for knowledge about HNPP. His doctor has far more avenues open to him than Wayne does and Dr. Gareth Parry could speak with his doctor. Foot drop usually refers to the inability to dorsiflex one's foot or to lift it when walking and it drags and trips a person and has to be lifted from the thigh. A stiffened foot pointing down is not what we know as foot drop. An orthopedic surgeon might look into that.

Reprinted with permission from CMT International, Volume 15, Number 2, April 1998


A Diagnosis and Pain Relief

by Linda McDonald

I live in Quebec, Canada in a small country village about 30 miles north from Montreal. I am 37, married to a wonderful and very understanding husband, André, and I have three children, Julie 16, Patrick, 12 ½, and Eric, 11 ½.

Two or three years ago, I started having a burning sensation in my left foot whenever I would walk and put weight on my heel. I went to see my GP, and he said it was due to my very high arches and sent me to an orthotist who made orthoses to wear in my shoes. They helped support my feet but the burning sensation was still there. That lasted about six months and without any reason just disappeared. A few months later, I noticed that my left leg was shrinking from the knee down. I went back to see my doctor who sent me to a neurologist. I had an EMG done and she told me it was CMT.

One year later, I was still complaining about having a lot of pain so she did another EMG because she said it must be something else since CMT doesn't cause any pain at all. The results still indicated CMT so she ordered then a DNA and nerve and muscle biopsy with a lumbar puncture. The results came back about 4 months later. It wasn't CMT, but HNPP. She said I had tomaculous neuropathy and that it was impossible to experience pain with this but she sent me to a pain specialist ( I think it was just to get rid of me).

IT was there that I finally got medication that makes the pain a little easier to live with . I now take Oxycontin 10 mg once a day, Oxycodone 10 mg four times a day. It keeps the pain at a lover level but it's still present. I also take Synthroid for hypothyroidism, Manerix and Paxil for depression and Rivotril for anxiety.

None of my children have been tested and I don't plan to unless they start having problems. No one else in my family has eve had any neurological problems.

Now that I think back, I've always had poor balance and would trip over anything. I have always had very high arches, but I was active in sports. When I was about 16, I had numbness in all of my left side that lasted four months, and by the time the doctors were ready to have tests done, it had disappeared. Then, with every pregnancy, I had bad backaches and weak legs that doctors still couldn't figure it out.

I had a car accident in '92 and was in physiotherapy , five days a week for eight months, for ankle, shoulder, back and neck sprains. I didn't find physio was helping me, but the doctor said hang in there, it would eventually. decided to stop physio after spending a few days in hospital after a bad asthma attack. I found I was better resting than in physio. Three months later, I tripped and broke my left ankle and it took three months to heal.

I also have patches of skin that are numb and have been for a very long time. My legs are very weak, and outside the house, I have to use either my forearm crutches or a wheelchair, depending on where we are going. I have to take a few naps a day and sleep at least 12 hours a night. I have allergy to many medications and developed asthma when I was 31. I have trouble chewing, swallowing and breathing when I lie down.

I worked for five years taking care of eight children ranging in ages two months to 4 years until last year. I just didn't have enough energy to go on.

I would like to study computer programming in the future, as soon as we can afford it, since I am not eligible for disability pension.

Joining the CMT and HNPP e-mail support groups has done wonders for me psychologically. I've been helped and have learned more in one week than in years with doctors.

Linda here- Linda's GP is misinformed about CMT and HNPP not causing pain.

Reprinted with permission from CMT International Volume 15, Number 3, June 1998


 

It will never happen to me!

by Robert Bennett

I have always been in very good physical shape. I have watched my weight, exercised regularly, and have begun to eat better. When I was younger, I was very athletic. Since then I began to lift weights and perform aerobic exercises.

Approximately four months ago I went to my family physician because my left biceps refused to move. He performed a regular check up and noticed that I had no reflexes. This threw up a flag and I knew this was something much more than just a pinched nerve.

Well, it happened to me. After seeing the family doctor, he sent me to a neurologist who performed an EMG. He also noted the lack of reflexes and the EMG showed slowing of electrical conductivity on certain entrapment areas. He told me the it was a possibility I had HNPP (hereditary neuropathy with liability to pressure palsies). I had no idea what HNPP was at that time. It was then he sent me to the University of Pennsylvania in Philadelphia, PA. I saw there neurologists that day. One of whom is supposed to be the leading neurologist in the area on peripheral neuropathies. His specialty is myelin degenerative diseases. They performed a very extensive EMG and overall check up. After all was said and done, he suggested I get a referral form my family doctor to have blood work done. The checked genetically for HNPP and CMT. After about four to five weeks of waiting on pins and needles, the blood test came back positive for HNPP.

At first I was very depressed. But fortunately, I am married to a very wonderful and understanding woman. Now I wonder about my future and even more so about my wife having to deal with all of this.

Fortunately my symptoms are rather mild right now. But I occasionally have lower back pain and feel weakness in my legs and arms. I awake every morning with some type of numbness (usually on my left side from my head to my toes). I am also very fatigued and it seems that I have t nap all the time. I was also told that I have carpal tunnel syndrome.

Now, When I look back on my life, I can remember wondering why my hands would be numb for days after simply using a pair of scissors. I can also remember wondering why when I slept my arm and legs would go to sleep all the time and see to last too long. But, of course, I just brushed these thing off and never really gave it a second thought.

I guess the thing that bothers me the most is the fact that I cannot predict my future. Of course no one can predict his or her future with any high degree of accuracy. But now, more than ever, HNPP constantly reminds me that I may have three years of quality life left or 30 years.

IT is a blessing or a curse? But f course, I also remind ,myself that things could be much, much worse.

Alternative or Complimentary Therapies

I notice most of my problems seem to be worse when I awake in the morning, indicating sleeping wrong. If I take a nice warm bath with Epsom salts or just warm water alone t seems to dramatically help me for awhile anyway. It seems as though, while I'm in a nice hot bath, I can actually feel the blood flow increase which I believe helps the electrical signals to the nerves improve.

Computers

I like the voice dictation software to minimize typing. And the voice mail programs are nice also.

Vitamins and Herbal Supplements

Also, I take a B complex (B1, B2, B3, and B12) but I have heard to stay away from B6. Also I take Saint John's Wort, which most people take as a mood enhancer, but I read up on it and it claims to be a nerve-healing agent also. I am looking into a Silica Hydride (and other anti-oxidants). It claims to be helpful for degenerative diseases.

Pacing Activity

And last, but not least by any means, is the importance of an individual patient him or herself.

Wed Site Link of Information on HNPP

http://members.aol.com/~momhorton (ed. Note; now www.hnpp.org) - a web site designed and managed by Maureen Horton. I would like to thank the following people: my wife, Karen, for being so supportive and loving...I love her more than life itself; Linda Crabtree for listening and introducing me to Maureen Horton; Maureen Horton for introducing me to a wonderful group of people on the HNPP internet support group.

Reprinted with permission from CMT International ,Volume 15, Number 4, June 1998


 

 About Dan Page

Hi, my name is Dan Page, I am 44 and have HNPP. I will start by telling you about my history. Born and raised in Winnipeg Manitoba Canada I majored in electronics in high school. I had an interest in radio and ended up in college taking a course in Radio Operating. In 1979 I started working for Transport Canada as a Flight Service Specialist and been transferred to various stations in Saskatchewan, Manitoba and Northwestern Ontario. I was married in 1979 and divorced in 1987 and have a son named Chris. Except for one year, I have been living on my own since the divorce.

 I earned my pilot's license in 1982 and bought a plane in 1986. The plane was a Piper Cherokee and it took me to many places in Canada and the U.S. In March of 1994 I was flying to Phoenix Arizona with 2 friends and while flying over the mountains in Colorado we encountered a weather phenomenon called downslope flow and rapidly lost altitude and crashed into the trees. We all survived, my friends with minor injuries and myself with serious head injuries, all the bones in my face had been broken and my right eye had been damaged beyond repair. After getting rescued and taken to a hospital in Grand Junction Colorado I had two operations done, one to remove my right eye, and the second one to rebuild the bones in my face. This operation took 3 doctors 8 hours to complete, and thanks to their skill I now look pretty much normal, with an artificial eye and a few almost invisible scars on my face. After getting out of the hospital I weighed 114 lbs (I'm 5'10") and I set out to gain back some weight and get my strength back. Two months later I went back to work and never looked back. In 1995 I was transferred to Winnipeg and decided to really work on building my muscles and bought a universal gym to add to my treadmill. After a year of working out 3-4 times a week I was seeing no real change in my muscles and was wondering why. Nobody I talked to had an answer, but now I know why. It was the HNPP.

In late 1997 my Dad was having problems with weakness in his legs and the doctor, after doing a physical exam, diagnosed him as having CMT. So after hearing this I decided to find out more about CMT by searching the Internet. There wasn't a lot of info available then but what info I did find was very illuminating. I read that CMT and HNPP were related and I felt that I had some of the symptoms of CMT and also read that I had a 50% chance of having either disease. So I decided to get the DNA test and got my doctor to refer me to a geneticist in Winnipeg. After months of waiting I finally got the test done around February 1998 and after waiting over a month I was phoned at work and told by the doctor that "you don't have CMT, but you have the genetic opposite, a disease called Hereditary Neuropathy with Liability to Pressure Palsies". And then he went on to try and describe it to me, but it became readily apparent that I knew just as much as he did about it, and it turns out that he had never seen a case of HNPP, I was the first one.

Now that I know what I have I'm better able to adjust my lifestyle around it and hopefully keep the damage that HNPP causes to a minimum. I consider myself lucky to have only a mild case of the disease as I am able to function pretty much normally. Some of the problems that I do have are, difficulty swallowing, I need to chew everything to a fine pulp before I swallow or I may choke, the muscles in my throat that push the food down have gotten weaker. Same thing in my large intestine, the food doesn't move through very fast and will occasionally get stuck. I am currently taking a drug called Prepulsid to help digest my food, it has limited effectiveness, and I worry that in 3-5 years it may not work very well and then what do I do? It is my belief that HNPP has caused or contributed to my being so thin. Other problems I have that may or may not be related to HNPP are constant headaches, not migraines, but mild to moderate headaches that are always there, from the time I get up till I go to bed. Stress seems to be a factor in making the headaches worse. I've found that taking Ibuprofen helps somewhat, but never completely gets rid of my headache. Another problem is difficulty sleeping, ever since early adulthood I have had trouble getting to sleep and staying asleep, the slightest noise will wake me, or too much light in the room, or too warm or cold. For about 2 ½ years now I have been taking melatonin every night to help me sleep, and it does help, but its not completely effective. These last two problems are no doubt complicated by my working shift-work (including nights) and this will only be solved once I retire. Other problems that I feel are 99.9% likely to be caused by HNPP are occasional numbness in either arm or leg when sitting for a long time, as soon as I re-position myself it usually goes away. I also have occasional tingling in various parts of my body, and this could happen anywhere from my face to my toes.

I believe that in time some type of treatment will be found for this hereditary disease, something that will be able to make the myelin sheath stronger, and maybe rebuild what was damaged. I'm currently a member of an email group of about 60 people, who all have HNPP, and we share our experiences with one another, and I feel very fortunate to be part of this group.

Reprinted with permission from CMT International Volume 15, Number 6, December 1998

 


Some good advice for folks with HNPP

by Karen Greenwood, B.C., Canada

I am 29 years old, a single mom to three terrific kids, and I have HNPP. When I was a teenager I noticed numbness and tingling in various places on my legs, feet, hands and face. If I tied my shoelaces too tight my foot would be numb for days. If I used scissors for more than three minutes I would have a numb hand for days. Other than these minor palsies, I never really took notice of my disease nor did I really realize I had one. About two years ago, my mother, who also experienced minor palsies, started to experience some pain in her leg and a slight footdrop that was unexplainable. After seeing a neurologist, she was informed she possibly had a hereditary neuropathy. He suggested she search no further for an answer as neuropathies are hardly ever a bother and there is no cure. I then saw the same neurologist and was told the same.

This year I noticed a progressive weakness in my limbs and more prolonged palsies as well as a drop foot occasionally. I returned to my neurologist to insist on a full investigation into this as if it had a name I could better educate myself...thus the diagnosis through DNA testing and a sural nerve biopsy became HNPP. Approximately two weeks before the test results were in, I suddenly experienced extreme pain, weakness and stiffness in my wrists, hands and shoulders. By the close of the week, the symptoms had spread to my hips, thighs and calves. I could no longer get out of a chair on my own. Walking was very difficult and the pain was severe. I sometimes experienced shortness of breath as well. My physicians were perplexed. My G.P. prescribed Prednisone which worked wonders. In two days I was back to work, still stiff and sore but able to drag myself through the day. After five months I could no longer stand the side effects nor was the dose sufficient any more. I went off the Prednisone and took a sick leave from work. I applied for long-term disability and told my employer I would never return to my job.

After nine months of numerous blood tests, a sural nerve biopsy, a temporal artery biopsy, a deltoid muscle biopsy and a bone scan, they have finally concluded that all my symptoms must be related to HNPP. Unfortunately, not one of my physicians has any real knowledge of HNPP. My G.P. is very willing to learn. He has been a great support through all this, as has my boyfriend. One thing I have learned is to never visit the ER unless we arrive well equipped with information on HNPP and the severe pain it can cause. I have encountered some very ignorant and stubborn doctors there.

Life is very different for me now. I used to be a very active person; now just getting up in the morning and getting the kids fed and to school and home is a chore. I suffer from constant fatigue...I could spend the day in bed if possible. Pain is always a constant companion as well as weakness, especially in my legs and hands. I am now taking Neurontin, an anti-convulsant drug that desensitizes the nerves. It has helped tremendously, although it causes fatigue, which I do not need more of, and short-term memory loss.

I do not know if I will ever work again. I feel like a burden to everyone and less of a parent to my children at times as I can no longer play with them or go for walks in the park or bike rides, etc. The hardest thing besides not being able to do what I want to do is to learn to pace myself. If I start to feel a little better, I always overdo it. Asking for help is also difficult as I am a really independent person. I pay for it with higher pain levels!

My loss of independence is depressing. I am thankful that I have three loving, beautiful and very helpful kids. Their smiling faces will always brighten my bad days! I am trying to come to terms with my illness and its limitation with the help of counseling and an e-mail support group. My future is unknown, so I must learn to live each day to the fullest and not worry about tomorrow. After a bad marriage of almost nine years, and a much welcome divorce, I was excited to get on with my life and looked forward to attending university. Now I am in limbo waiting to see if my condition will improve.

If I could give anyone advice, I would say keep hounding the doctors and insist they learn more about this disease. Surround yourself with positive, helpful people. Do not be afraid to ask for help, take it when it is offered, and get lots of sleep. Sleep is paramount to staying relatively comfortable and managing this disease.

Reprinted with permission from CMT International, Volume 16, Number 2, April 1999 


Life an amazing adventure

Hi! Let me introduce myself before I start my ramblings. My name is Jason Stone, I'm 27years old, and I currently work as an IT administrator, which is another name for the manager of the computer department, in a shipping company in London, England. Now that's out of the way, I'll tell you my story, which hopefully you will be able to relate to and I hope will be of help.

I discovered I had tomaculous neuropathy (HNPP) at the age of 16 while in hospital recovering from a spinal fusion operation I needed after going sledging for the first and last time. Before that, the only other time I had sought medical help was once at the age of 13, when for some strange reason. I woke up with a totally useless left arm. Unfortunately, none of the doctors at the hospital knew what was causing the lack of strength and sensation in my arm, so I was blindly prescribed Ibuprofen to reduce what they thought was swelling in my left shoulder. This of course led to more problems, but that's another story....... Luckily, the hospital I was staying in for the spine surgery was St. Georges, Wandsworth, which is a teaching hospital and very well equipped, and they suddenly had the opportunity to study something else on me. This began the tests, not the most fun experience of my life, but let's say it was "enlightening" and sometimes electrifying or should that be electrifying.

The tests were conducted at The Royal Free Hospital, London, and they also ran tests on my family to see who else was affected. My mother and my younger sister do not have HNPP but it turns out that my father has a much milder form of HNPP, which is why his football (soccer) career was suddenly cut short due to the pain it caused in his ankles and feet. Once again though, due to the lack of knowledge of HNPP at the time, I was left in the dark for quite a while with regards to how the HNPP would affect me and why I seemed to be suffering from much more intense HNPP attacks than my father.

When I left the hospital, the doctors asked me to keep a diary of how many times I had an attack. This is where I realized that the HNPP was affecting me more than I had previously thought. Until that point, I had thought that everyone's hand went numb when squeezed and that everyone had severe stabbing pains at random times and places all over their bodies. It was at this point that everything made sense, I was unbelievably accident prone as a child, I fidgeted constantly (well it was either that or have bits of my body go numb) and never really felt "well" but I was always told that everyone had growing pains.

Being 16 years old at the time, I tried to ignore the fact that there was something wrong with me, and because it wasn't a visible affliction, unlike my broken back which left a nice huge scar that looks like a big toothy smile which is pretty cool, I could pretend to my friends and even myself that I was okay, and I wasn't going to be left out of anything that my friends did; after all, I was the same as they were. This was probably the hardest time for me because I am a very self-reliant person, who likes to push himself a bit harder to be the best. I've had to quit the basketball team, track and field and most other sporting activities because of my spine injury but I knew that some day my back would be strong enough to start again. Now I was being told to pretty much wrap myself up in a huge ball of cotton wool and stop everything that involved contact or pressure on my body. Despite this, I started Kung Fu classes (very good for the soul but watch the physical side), taught myself to play the guitar, have been on stage at festivals and around London, and generally did everything else that my friends did, more than most of them in fact.

But I must say though, because it is such a rare disease, I have come up against a lot of stick from people who either don't believe me or don't quite understand the nature of the disease. This, in the past, has led to me doing things that I knew would damage myself because I don't like to argue my limitations or admit my disease can sometimes control me. Nowadays, I don't do such things but I try not to look on it as giving in and admitting defeat. I just try to find another way around the problem. This can be very satisfying when you do, and I find it kills some of the misery that HNPP brings.

Thankfully, I have a very supportive family. My mother has been fabulous through this by taking me to hospital and helping me out generally, and I have been lucky with my friends, unless you get annoyed by wind up merchants taking the mickey out of your floppy arm/leg/hand/whatever. Just in case people don't know what a wind up merchant is, it is someone who takes the mickey and gets you steamed up to see your reaction, makes fun of you to entertain themselves and others... all in jest though, not horribly, although it may seem like that if you don't know the person.

Sometimes, I still get down about my predicament but I try to think about the situation and how I can improve it instead of not thinking about it and getting depressed when it all comes to the surface. The disease also affects my work attendance occasionally, and I have lost some jobs in the past due to not being able to write or drive properly, which is a bit of kick in the stomach. It makes you feel like a second rate person sometimes. Luckily though, I have been at this place of employment for over three years now and I've been promoted despite my sometimes shaky attendance.

At present, my biggest worry is my love life. I've just met someone new, and although it's not too serious at the moment, it may get that way, and my hardest decision is knowing what and when to tell her about my HNPP. This may sound depressing but I need to say what I feel. I almost want to spend my life alone because I don't want someone to end up with a "faulty" model like me and then have the prospect of "Russian Roulette" with the DNA of our children, if we have any. But, if I had the option to be born and live with HNPP or not be born at all, I'd definitely choose life because, despite the stresses caused, life can be an amazing adventure, whether you travel around the world or, like me, never leave your home country. You're always on a journey and you're the only one with your destination. Best see what it looks like, eh?

Reprinted with permission from CMT International, Volume 16, Number 4, August, 1999


My pregnancy and HNPP

Lori Brown, CA, U.S.A.

Being diagnosed with HNPP was a real blow. So far, doctors don't have any answers as to its progression. There is no cure for HNPP and there is a good chance my children will have HNPP. The uncertainty of that possibility drove me to have my five- year-old son and two-and-a-half year-old daughter tested for HNPP and make arrangements to have my unborn baby boy tested using his cord blood at birth. I am worried about the future of my children's health because right now there is no cure or good treatment being offered to HNPP patients.

I had to stop taking all the medications that were helping me to deal with the nerve pain and numbness due to my pregnancy. As a result of this and the weight and pressure from the baby, it is causing my HNPP to flair up. I decided after getting brushed off by numerous doctors that I need to take charge of my health care. I started getting on the Internet and looking up anything and everything I could find on HNPP but I learned there is not a lot out there. I joined an e-mail support group that has given me the best advice and support that I was needing. I am able to get "real life" information on HNPP, not the "pain-free no big deal" disease I was told about by the doctor who diagnosed me after two muscle and nerve biopsies and DNA testing.

Pregnancy is a big unknown with HNPP. The doctors I am seeing have no idea how to treat me and seem to be afraid of me. They are afraid of the unknown. I am having a lot of nerve pain that shoots up my legs into my back and hips. I am having a lot of virtually continuous episodes of numbness and weakness in all four extremities. I am also having numbness in my face which is causing my mouth to drop on one side. My ankles are giving away and I am falling quite a bit, hurting my ankles and endangering the baby, so the doctors gave me a walker and ankle support braces. The only problem with that was the walker caused my arms to go numb. I now have a wheelchair and am dependent on others to take me to the stores and doctors.

At 24 weeks pregnancy, I started having contractions and dilating and was put on bed rest. The doctors are in conflict over this issue as well. One doctor says that my HNPP nerve irritation could be causing the uterine irritability which in turn causes cervix changes. Another doctor states that can't be the case. Who is right? Since there is no real research on HNPP out there, no one knows for sure. This disease needs to be researched in great length to try to get us some answers. I do not want my children to have the same uncertainty that each day brings. Will I be able to walk today or will I be able to hug my children today or hold them. It is hard!

I am only 26 years old. I showed signs of this disease when I was a child but nothing was ever pieced together until after the birth of my daughter over two years ago. My "pregnancy carpal tunnel" did not go away after pregnancy so I went for some nerve conduction studies which showed problems in all four extremities. Needless to say, the doctors were stumped for a while and just wanted me to go on pain pills and steroids for the rest of my life. I did not accept this answer. I pushed to get a new doctor, and he did a lot of testing until finally the DNA test came back HNPP. It was a relief to have an answer but just not the answer I wanted to hear after learning of no treatment or cure.

I am having a hard time adjusting to the difference in quality of life that I have now. I want to be able to go shopping all day with my mom like I used to be able to do. I want to be able to walk my son the mile to school like his other friends' moms do. I want to be able to hold and carry my daughter when she is crying. I just can't do it anymore and that hurts more than the HNPP does. I was always so independent and did not back down from challenges. I am not backing down from this one. I am just going about it differently by telling my story to whoever will listen, trying to educate doctors on what HNPP is like, and answering any questions thrown my way about HNPP. I feel it is my responsibility to my children to do anything and everything in my power to try to get doctors to listen and learn about HNPP. My husband and I are anxiously awaiting the DNA test results on my children. The unknown is the worst part of this disease. If you take nothing else from my story, please take this with you. Please educate yourself, take control of your own medical care, get second opinions, and find a good support group you can depend on.

Reprinted with permission from CMT International Volume 17, Number 2, April 2000 


Coping with HNPP in the family

by Arlene Vander Klok, Alberta, Canada

My husband, Rick, has HNPP. We have been married for nine years. When we got married, I knew he'd had some problems with his hands in the past, but this is all I knew. We had been married for six months, had just moved into our own house, and had a beautiful new baby boy... life was perfect... except Rick was experiencing drop foot, then his hands lost tactile strength. He went to the doctor's who ran a series of tests, even though Rick already had a diagnosis of tomaculous neuropathy, and found Rick is diabetic. I think the diabetes was the initial shock for me. I knew nothing about the nervedisorder.

As we took a few weeks to adjust to the diabetic lifestyle, Rick's hands and feet got worse. He was never able to return to work. This was fine with me. I enjoyed having him home! He could help with the baby even if he couldn't do much (holding him so I could accomplish housework was a big help). I don't think I even noticed I was providing essential assistance to Rick, such as washing his hair, cutting his food, tying his shoes, etc. I did knowI had to help with his socks - I hated that daily chore. But I did it all out of love. I know better now but still do what I have to because of love.

We had another son, and Rick started to get over that episode. I teased him that if he miraculously got better after the baby was toilet trained I would have another baby so he could change diapers. He was really bad for four years and now can do most things for himself again. I still do most of his writing and typing. I cook a lot of stir-fries and casseroles for suppers, things that don't require cutting. He is still unable to work full time. I still enjoy having him home!

Our sons are now 7 and 8, and are privileged to know their father. The boys are home schooled, so we are a very close knit family. Our oldest son helps Rick, they do firewood and construction stuff together. Our youngest is more a mom's boy. The week before Christmas, our oldest son had a numb hand for two days after bumping his elbow. Also, the day before, his face stayed numb for over nine hours after some dental work. We are assuming it is HNPP. For me, this is devastating! I know Rick's difficulties and really didn't want my sons togo through the same things.

My concerns revolve around his future. How severe will his HNPP become? Will he experience pain? Will we be able to adapt his schooling so he can continue through post-graduate education? Will we be able to afford post-graduate education? Will he find a job that will give him the lifestyle he deserves that won't cause many pressure palsies? Will he find a wife who will love him enough to do all the necessary things I do for Rick? Some of the answers are easy. I can get the school to put a voice recognition program on his computer. He is gifted so he stands a strong chance of qualifying for a scholarship. But the other questions, we will have to wait to see what happens. We will have to teach him what causespressure palsies and how to adapt to avoid as many of them as he can. At least we are not dealing with an unknown

It is kind of funny how as a wife and as a mother I have to approach HNPP two different ways. As a wife, I am part of a team, learning about HNPP and living with it, with my husband. As a mother, I have to teach my son to adapt as an individual. We will always be here for him, but he will not always be here with us.

Reprinted with permission from CMT International Volume 17, Number 1, February 2000

 


The HNPP picture emerging in one family

by Maureen Horton, Minnesota, U.S.A.

This issue marks the end of the third year of CMT International including HNPP in the CMT Newsletter. I wrote my own story in August 1997 describing the classic HNPP symptoms of pressure palsies - the episodes of numbness and weakness, lasting minutes to months and brought on by pressure, stretch on the nerves or repetitive use. I also wrote about more significant problems evolving (they have continued to worsen), which we know is the polyneuropathy that researchers report frequently happening in long-standing HNPP. Over the past three years, we have heard from many others in similar circumstances; dealing with a disabling condition and showing a variety of symptoms.

HNPP remains decades behind CMT in terms of both the local neurologists knowing about the disease (and the various ways it presents itself) and the numbers of individuals diagnosed with it. Researchers believe HNPP is as common as CMT, but one would never know it looking at the numbers of people seeking out information. When I first wrote my story, we believe that I was the first article about HNPP in a 'lay' publication. It took me eight months, of almost daily Internet searching, to find my first person outside my family with the disease! Eight months! Over the past three years, the numbers coming forward are slowly increasing as more people are diagnosed and find us.

Yet another reason for the interest in HNPP to be emerging slowly is that, for most, the disease is believed to be mild. If only a nuisance, a one time thing or hands and legs falling asleep just like everyone else, there is little interest in getting checked out by a neurologist. This, coupled with all the different ways that HNPP acts, can make piecing together a family history difficult. My extended family is a perfect example. We have 42 'at risk' individuals in three generations. Only four have been positively diagnosed, and three testing negative, though many more have symptoms suggesting HNPP.

HNPP was first diagnosed in my family in 1985. It was a fluke that we were diagnosed even that early. By then, dad had been having on and off problems with his hands, shoulders and back for ten years. I had been having back and carpal tunnel symptoms, triggered by pregnancies, for eight years. My brother had one episode of arm weakness and numbness after learning to decorate a cake. The local neurologist, who saw all of us in the early 80s, felt we had something familial - like CMT - but never took it any further, despite a university research facility five miles away. We just accepted that we had something familial, that carpal tunnel syndrome (CTS) ran in the family, and let it go at that.

In 1985, HNPP was still thought to be quite rare - like 30 families worldwide. I was in a different health-care system and was sent to a peripheral neurologist after telling the primary care doctor that CTS ran in our family. The new neurologist just happened to run into another family with HNPP while doing his neurology fellowship in another state. Otherwise, we would have continued on without a diagnosis. Once in the hands of a neurologist interested in taking this further, more bits of the family history began to emerge. My father, who didn't begin to have problems until his early sixties, reported one incident when he was 18. He had developed complete arm paralysis (acute brachial paralysis phenotype) which lasted for a year after helping to lift a car engine. That's 45 years between symptoms! Dad also related that his father and grandfather had weak knees and "floppy feet." No one thought much about it. That's just the way they were. We checked with my dad's younger brother and older sister and their families to see if they were experiencing similar problems. But all was fine with them. So, for many years, we thought we were the only branch of the family that had it. And only the three of us.

Four years ago, and 11 years after HNPP was initially diagnosed in the family, my then 77-year-old uncle called to report that he had a stroke. He awoke one morning and his whole arm wasn't working right. In a couple of weeks he was having leg problems too. His doctors were talking TIAs, strokes and carotid artery surgery. My dad reminded my uncle about our family neuropathy. My uncle's neurologist was very interested to hear about the family 'neurosis,' as my uncle called it. After sending copies of our EMGs, as well as information about HNPP, to his neurologist, my uncle's diagnosis was changed to HNPP. His symptoms improved in about three months. Later, he told us about his leg 'going dead' for three to four months while in the military. He was 57 years between symptoms!

After my uncle's diagnosis, and newly armed with more information about HNPP from Dr. Parry, we again surveyed the family to see if anyone else was having problems. My aunt originally denied having any problems. But it didn't' make sense when all three of her children had some neurological problems. With further questioning, we found out that she thought everyone's hands went to sleep while knitting and crocheting! That has been her only problem for 88 years! So, of my father's generation, three out of three had symptoms and two were positively diagnosed with HNPP. My aunt, father and uncle produced a total of 12 children. Nine of the twelve cousins have symptoms which could be explained by the HNPP. Although they now all are aware of the HNPP diagnosis in the family, only two have been diagnosed. I am one of them. For most of the cousins, just knowing about the disease is enough. Pursuing a diagnosis does not seem to interest them at this stage of their lives.

All three of my aunt's daughters say they have carpal tunnel syndrome, a common problem in HNPP. One attributed it to her job as a baker and has never seen a doctor. Two of the three are diagnosed with fibromyalgia and one has had back surgery. One has had episodes of numbness with some weakness for more than 25 years. As these episodes came and went and involved one leg and then the other, she was told that it was psychological. While relieved to know what she may have, she was also angry about being told it was all in her head. My brother, the would be cake decorator mentioned earlier, needs to see a neurologist, with EMGs in hand, to get the final confirmation he has the disease. He has had one other pressure palsy episode. In 15 years, he has yet to do so. But he has worked as a carpenter without problems, so getting formally diagnosed is not an issue for him. My younger brother, is the other one diagnosed in my generation. He was willing to be part of a study (where he was diagnosed) but, given his mild symptoms, felt no reason to seek a diagnosis on his own. He can readily produce tingling by leaning on a hand or elbow for a few seconds; it goes away just as quickly when he stops leaning.

Of my uncle's five children, three, all nurses I might add, have symptoms. One has had constant numbness in the tops of her feet for years. Another has numbness that comes and goes, mostly on her left side. Another has bilateral carpal tunnel syndrome and has had surgery without any improvement. HNPP symptoms typically appear when a person is in their teens or twenties. There are 27 children of the cousins (my children's generation) of which the majority are still under 25 (range 4-40). Five (so far) have symptoms suggestive of HNPP but are undiagnosed. My three sons, thankfully, do not have the disease.

My family has been involved in the HNPP study at the University of Minnesota. While almost all have responded to surveys and phone calls, going in for exams and testing does not seem to be a priority for the local family members. Until they have more significant problems, they are content just knowing the family disease exists. As much as I would like to, I can't force them to go in. Meanwhile, because I have been diagnosed, I can take a multitude of tax deductions on everyday things that help to prevent or alleviate my disease. That is things like the power windows and seats in the car, the dishwasher, the addition to our house. These deductions have reduced our taxes to nearly nothing for the past several years, and we have gotten huge refunds. While my siblings and cousins grumbled and complained about the amount they owed on their taxes this year, I sat back smiling. And I smiled all the way to the bank!

Reprinted with permission from CMT International Volume Vol 17 Number 3 June 2000


Classic HNPP, A Personal Story

I'm in my mid 40's and have lived most of my life in St. Paul, Minnesota. My story begins in my mid twenties. I married, finished a 4-year degree in nursing, started working full time and we bought our first house - a renovation project.

In retrospect, we think my problems began when I was 25 and pregnant for the first time. I developed severe pain radiating down my legs, which was diagnosed, at the time, as a disk problem. After delivery, the pain vanished and was replaced by numbness and severe weakness in my right leg. The weakness was so bad, I couldn't press on the gas pedal. It took 3-4 months for the weakness to resolve. Partial numbness lasted for many more months.

A second pregnancy soon followed as did a second home and renovation project. The back problems flared up again and I also developed carpal tunnel SYNDROME in both hands. I didn't have any hand pain, but there was significant numbness and hand weakness for up to six weeks (very typical of HNPP). The hand symptoms were always caused by something - prolonged cutting with a scissors, getting down on my hands and knees and scrubbing the floor, pushing on a paint scraper, etc. The problems would resolve, only to happen again the next time I did a similar activity.

After a third pregnancy, and more problems, EMG's were done. They showed nerve conduction slowing in both arms and cubital tunnel syndrome (ENTRAPMENT OF THE ULNAR NERVE AT THE ELBOW) as well as carpal tunnel syndrome (CTS). I think it is important to note that I used to spend 20 minutes in the doctor's office with my wrists flexed trying to reproduce symptoms, and it never worked. It was leaning and pressure that caused the symptoms!

I had the carpal tunnel surgery on both wrists. The surgery really helped and I was able to do all that I wanted to do again. But by two years, I was back in a different doctor's office, with the same symptoms, expecting to have surgery again.

Two other family members were also developing similar problems about the same time I was. So, in 1985, I casually mentioned that other family members also had CTS. I was promptly referred to a peripheral neurologist because CTS does not run in families ( I have since learned that it can).

EMGs were repeated after a very thorough history was taken. The doctor really listened when I talked about leaning causing problems. I was "clinically diagnosed" (based on symptoms and EMG) with "Hereditary Pressure sensitive Neuropathy". I was told that very little was known about this disorder. It was considered extremely rare. There were only 30 known families in the US who had this. I was given an article to read, wrist splints to wear when I had symptoms, and I was told to avoid activities that caused problems.

Adjusting to the diagnosis was fairly easy. I actually was intrigued by having something so rare. I didn't have anyone who could teach me about HNPP , so I taught myself, by observing my own body and what caused symptoms. I learned that hot humid weather made things worse as did fluctuations in hormones. I learned to pace my activities by picking up the early warning signs of tingling and stopping what I was doing; milk bottles and bags were better carried by the bottom rather that the handle. I continued to have times of numbness, but by paying attention most of the times were avoided or kept to a minimum.

For 10 years more, I continued to do almost everything I wanted to do. This included working full time and renovating yet another house. But over time, how long I could do any thing gradually shortened and the warning signs began to disappear and I would unexpectantly find something numb.

I have read about the acute palsy episodes progressing to a more generalized hereditary sensory motor neuropathy in some people. And I guess that is what is happening to me. After an ulnar nerve injury in January of 1996, pain has become part of my life. Within 6 months more limbs were involved. I've experienced those sharp jabbing pains, some constant pain, pain made worse by activity and feet that hurt from too much standing or walking. While palsy episodes still happen, there seems to be permanent numbness in my hands, legs and feet. Foot drop and tripping are developing. My hands are weaker. I read about CMT and I can definitely relate to muscle cramps; swelling; cold extremities that need to be manually warmed; and fatigue. I need to pace everything I do or pay the consequences.

Having a rare disorder, has made it very difficult to find knowledgeable doctors. Usually, I am the first person that a doctor has seen with HNPP and I have to explain things to them. It IS more typical than not to have doctors try to treat me as if the neuropathy doesn't exist. After my ulnar nerve injury, and in yet a different health plan, I had 8 different diagnoses in a 4 month period of time. As things continued to get worse, I couldn't shake the feeling that "my weird neuropathy" had something to do with this, even though the doctors didn't think so.

 I finally found my way to a specialist in peripheral neuropathy at our state University. Not only did this doctor know about HNPP, he was actually studying it! He's been a godsend. After years of no one to talk to about this, all my self observations are being validated and I'm finally being educated about this neuropathy. For years, I found myself shifting my position every 10-15 minutes when I sat in conferences. That's part of HNPP! And, by the way, since I have been diagnosed, many more family members are speaking out about similar problems!

All the changes in my life, in the past 18 months, have caused a major grief reaction - denial, anger, bargaining, depression. I have struggled with self identity - who am I if I can't do and be all the things that I did and was? It's taken a lot of hard work to reach a level of peace and acceptance. I know that there will be further emotional work to do as I lose more function, but I'm OK for now.

I don't know what all the future holds for me and this neuropathy, but I know that working on HNPP and trying to bring people with HNPP together will be part of it.

 Reprinted with permission from CMT International August 1997


 

Last Updated: 10/01