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Contents: 

What is HNPP?
Pressure Palsies - a closer look
Is it CMT or HNPP?
Pain
Literature
Support
Surgery and HNPP
Men wear corsets too
Do's and Dont's of living with CMT and HNPP
Pacing excerpt
Walking the fine line, Personal observations of pacing activity
Surgery a success
Coping with HNPP in family
Growing older with HNPP
Fatigue Sleep and HNPP
HNPP Advocacy


What is HNPP?

By Maureen Horton, MN, USA
edited by Dr. Phillip Chance,, Division of Neurological Research,
Children's Hospital of Philadelphia, PA, USA

 

Hereditary Neuropathy with liability to Pressure Palsies or HNPP is associated with a deletion on the chromosome 17p11.2-12. This is the same chromosomal site where CMT1A has been found to have a duplication and it contains an important myelin gene, peripheral myelin protein-22 gene (PMP22). Therefore, while CMT1A results from having an extra copy of PMP22, HNPP results from the loss of a copy of PMP22. HNPP is caused by an autosomal dominant gene. HNPP is also a demyelinating form of neuropathy like CMT1A. However, the affected nerve in HNPP are described as having focal regions with "tomaculous" changes or sausage shaped figures, due to the irregular thickening of the myelin sheath.

HNPP causes episodes or periods of numbness and weakness, similar to an arm or leg going to sleep. But instead of lasting only a few seconds, as it does in a normal person, this numbness and weakness can last from several minutes to months. These episodes may be associated with fairly mild trauma (stretching or pressure on the nerves) which would not ordinarily affect a normal person, such as: leaning on elbows, crossing legs, cutting with a scissors, knitting, kneeling, sleeping in a "wrong" position, etc. It has usually been described as a painless disorder, although some people do have pain, which is probably a subjective sense of numbness. Most individuals with HNPP have normal strength and sensation, unless experiencing an attack.

Typically, persons who have inherited HNPP will develop symptoms in their teens or twenties, but individuals may be first symptomatic during childhood or late adulthood. Like CMT, there is a wide range in how severely people are affected. Many are so mild that they are unaware that they have a problem. Others develop the symptoms of a more generalized hereditary motor and sensory neuropathy, which on occasion may be misdiagnosed as a form of CMT. Carpal Tunnel Syndrome is frequently seen in patients with HNPP.

As a hereditary neuropathy it is progressive, though to what extent it will progress, in any individual, is unknown. There is no treatment to cure for HNPP. People are usually advised to avoid activities which they have learned cause symptoms to develop. Leg crossing and leaning on elbows is discouraged. AFOs can be used during periods of acute peroneal palsy or for permanent foot drop and/or balance problems.

Reprinted with permission from CMT International, CMT Newsletter Vol. 14, No. 4, 1997.


Pressure Palsies - a closer look

by Maureen Horton

The nerves of people with HNPP are unusually susceptible to injury from pressure (internal or external), stretch or repetitive use. These injuries cause the nerves to demyelinate or lose their protective myelin covering, which leads to the symptoms of numbness and weakness. Typically, the areas most affected are the wrists, elbows and knees as these are the most common entrapment sites for anyone. The numbness and weakness may be mild or severe. And it may last hours to months. Recovery from these episodes is usually complete at first.

The following are some actual examples of pressure palsy episodes experienced by people with HNPP:

"Elbow down through little fingers went numb for several days from holding the phone and not switching from hand to hand."

"Scrubbing the kitchen floor on hands and knees caused six weeks of whole hand numbness and weakness. It was difficult to hold a pen, open things, or do anything involving hand strength."

"I was building a wall which involved repetitive overhead hammering. Right arm became incredibly weak and I was unable to eat with that arm for several weeks as I couldn't lift my arm high enough to get a spoon or a fork to my mouth."

"The straps of my new shoes were apparently too tight. I had weeks of foot numbness below the strap."

"I sat on steps and apparently the edge of the step was putting pressure on a nerve in my leg. When I got up, I had foot drop for several hours."

"I was redoing the bathroom and the hammer slipped out of my hand. I just didn't have any hand strength anymore. I have a gouge in our new tub from that."

"I was learning cake decorating. My whole hand went numb. They couldn't get some muscles to even respond during the EMG! That was my first episode."

 


Is it CMT or HNPP?

CMT now has several different sub-classifications based on other genetic causes than the gene duplication of CMT 1A. HNPP, as yet, is only based on the deletion of one gene yet there are several different 'phenotypes' or groups of symptoms that people with HNPP might have. All phenotypes seem to have some degree of pressure palsies. But the pressure palsies may range from mild and few to severe and frequent.

In addition HNPP can also mimic CMT. HNPP may look like a milder form of CMT 1A. There may be high arches and other foot deformities. Both diseases typically have a family history of others with the disorder. But in HNPP there would also be the pressure palsy episodes, however slight. Because of the similarities in the two disorders, many physicians feel that in all families with CMT, one person in the family should have the genetic blood test to confirm the diagnosis. The rest of the family members will be presumed to have it should they become symptomatic.

Clarification:

People with HNPP seem to have just about everything people with CMT 1A have with the addition of numbness. HNPP is usually considered a more mild neuromuscular disorder than CMT. Current thinking is that there are as many people with HNPP as there are CMT 1A.

So, CMT may have to share the title of 'the most common hereditary motor and sensory neuropathy.' But currently doctors are only seeing one person with HNPP for every ten with CMT. This would mean that approximately 90% of people with HNPP are either misdiagnosed or have cases so mild that they are not seeking medical attention.

In addition, motor problems such as weakness or paralysis are part of the pressure palsies in addition to the numbness. People with HNPP need to change positions frequently or stop activities in order to avoid these pressure palsies. Those of us with more advanced disease do share many of the same issues as those with CMT. Pacing, fatigue, career changes or loss, scooters, grief issues can all be part of HNPP too.

To put it in a nutshell: People with more severe forms of HNPP seem to have just about everything people with CMT 1A have with the addition of episodic numbness and weakness.

Pain

Much is known about HNPP, yet, like CMT, there is still much to learn. It is my understanding that for years people with CMT were told that pain was not a part of their CMT. The same can be said for HNPP. HNPP is usually a painless disorder. But, for some people, there is significant pain.

Literature

Linda was able to quickly summarize the medical journal articles to date in the December issue, "All but a few of them are studies in genetics and look at the diagnosis of HNPP." As a person with HNPP, I have been periodically looking at the journals for years in hopes of learning more. Many, if not most, of the articles mention individuals with only a handful of pressure palsy episodes. And, for many, this is indeed the case. But also, for many, we have frequent episodes and the literature is sparse in this regard.

If you have HNPP, you can help us gather information beyond what is listed in the medical journals. For instance, we need more on typical or classic symptoms, daily problems, how HNPP progresses and how symptoms are treated. This is information that we can give to people with HNPP.

Support

Several of us with HNPP have formed an HNPP e-mail support group where we can compare symptoms, education, and things that we have found that help us in our daily lives. If you have HNPP and would be interested in joining us, contact Maureen Horton at MomHorton@AOL.com mphorton@qwest.net and, if you know a doctor in your area who knows HNPP, won't you please either let me know by e-mail or write to Linda at CMT International, 1 Springbank Dr., St. Catharine's, ON, Canada L2S 2K1.

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


Surgery and HNPP

by Maureen Horton, R.N.

It doesn't quite seem fair that those of us with hereditary neuropathies have all the other health problems others do as well. But that's life. For those diagnosed with hereditary neuropathy with liability to pressure palsies (HNPP), surgery for any reason poses a risk. Anyone having surgery is at some risk for neurological damage. This is due to lying in one position, without moving, for as long as the operation takes. The way one is positioned on the operating table can also play a role. For most of the general public, the risks of nerve damage are quite small. For individuals with HNPP, the risks are quite high.

HNPP causes an increased risk of nerve injury from pressure (internal or external) stretch or repetitive use. Eternal pressure and stretch are the main risk factors in having surgery. The surgical team leaning against an arm or leg can cause a pressure palsy. Arms tucked against one's side or stretched out on an arm board can also cause problems. People who have had surgery also report mouth numbness from the breathing tube being taped off to the sides of their mouths. A general rule for anyone with HNPP having surgery is to have everything padded. Even the stirrups used in some GYN and urology surgeries have caused neuropathies.

It is important that the entire surgical team be aware of the HNPP diagnosis and the need for special positioning during surgery. For anyone with HNPP contemplating surgery, make sure the surgeon is aware of this need. Absolutely, the anesthesiologist needs to know of the unique nature of HNPP.

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


Men Wear Corsets Too!

by Ed More, CT, USA

Two and a half years ago my waist size suddenly increased 10% in length and I became sensitive to belt pressure. In years past, I had been subject to a long series of intestinal blockages and wondered if this signaled a new expansion of intestinal volume. The situation was mentioned to two GPs and a physiatrist with little feedback or any serious consideration. In that time an increasing difficulty with intestinal problems occurred including blockage reoccurrence and a protracted bleeding episode from the upstream end.

Why a corset?

Amongst the various peripheral nerves and muscles that can be overlooked in HNPP, the anterior area containing the abdominal muscles is often missing in dispatches. Maybe so many of us are surplus in that department it makes for a sensitive subject. The relationship between a slack abdomen a sore lower back is well known. In addition, the laterally asymmetric muscle weakness possible with HNPP is also well known. Traditionally a curved spinal column calls for external support by way of a corset that is characteristically uncomfortable. In the lower spinal area a lumbar/sacral corset is used with soft or hard stays.

The physiatrist.

Late last year my physiatrist attended a seminar where the presentation dealt with the use of a lumbar/sacral corset to modify distribution of intestinal features (guts) as opposed to the above mentioned spinal straightening. During an interview to try to address a rapidly dwindling ability to drive a car over thirty minutes without lower back strain threatening spasms, the physiatrist described the theories of the paper and asked if I would consider trying one to see if the effect would help my lower back strain problems. Ever since I can remember, lower back weakness has been my constant caution and in my 60's is totally limiting my physical life.

How I got the corset.

In a word, it wasn't easy. One of the biggest drug/appliance stores in the area was visited and the only thing available was some sales manual pictures. So, the first go around was to order two sizes of one model and pay for one. Of course, they were small and had to be reordered but larger sizes were not available. Thus, we ordered two more of a different style. The larger of the two was chosen and the physiatrist consulted only to find it a little too large. So, the second version smaller size was reordered and the total wait period came to about three months !

What does it feel like?

The corset positions just above the pubis and rests just even with the tops of the outer hipbone wings. It is drawn snug at the bottom straps and is set progressively looser towards the upper straps until the looseness at the top is just filled while sitting and more than comfortably loose at the top while standing. The Velcro closures work the best at that task as the hooks tend to unfasten due to the looseness. The steel stays are a no-no and it is a good slouch preventative. Under the circumstances, it tends to be comfortable all day long.

Did it work?

Actually, it worked much better than expected. One learns to put the shorts on the outside. The lowest part of the gut is moved inward and upward which causes the middle section to bulge out considerably more. The need of lumbar support in the car seat was reduced and an increase in lower back driving tolerance occurred within a week of wear. Within two months the five hour drive to New Hampshire was again possible with only a day's recovery required. Constipation and gas were markedly reduced when it appeared that intestinal progress was sped up to more normal rates experienced in past years. The best benefit was the elimination of the sharp precursor pains that threatened blockage recurrences in the past.

The future.

It's a life sentence and the corset became the third permanent device after molded shoes and an AFO. It will never be totally comfortable as is the AFO. The molded shoes on the other hand are totally comfortable. Now that all the three "add ons" result in straight up and evened out walking and sitting, and since help has been derived on the lower back, knee, ankle, foot, and driving fronts, they are with me to stay. More importantly, any future requirements will be recognized and serviced in the battle to remain as straight and true as possible until the next need comes to the fore.

Reprinted with permission from CMT International, Volume 16, Number 3, June 1999


DO'S AND DON'TS FOR LIVING WITH CMT & HNPP

1. Do face each problem as it comes. You can handle only one at a time anyway.

2. Don't worry, for worry is the most unproductive of all human activities.

3. Do count your blessings, never overlooking the small ones, for a lot of small blessings add up to a big one.

4. Don't be afraid, for most of the things we fear never come to pass.

5. Do learn as much as you can about your condition. Knowledge alleviates fear.

6. Do allow yourself time to grieve each time your CMT or HNPP escalates. Remember you lived through the last one and you will likely live through this one. No one can tell you how to grieve or when to stop.

7. Do often try to help people. Helping someone adds to your feeling of independence, gets your mind off yourself and relieves stress.

8. Do try to get your hands in the earth once in awhile. Nurturing something as simple as a seed empowers us.

9. Find something you do well and do it. Be proud of what you accomplish.

10. Don't cross bridges before you get to them, for no one yet has succeeded in accomplishing this.

11. Do spend as much time as possible with children. Playing their simple games is a great way of forgetting your problems and relieving stress. The hugs do this also. Playing with a small animal can be almost as much fun.

12. Don't take problems to bed with you for they make very poor bedfellows.

13. Do be patient with yourself. Rushing causes stress. If it's not an emergency, it is better to let go if you don't have the time or energy.

14. Don't borrow other people's problems. They can take better care of them than you can.

15. Don't try to relive yesterday for good or ill...it is gone. Concentrate on what is happening in your life today.

16. Do be a good listener, for only when you listen do you hear ideas different from your own. It's very hard to learn something new when you're talking.

17. Don't become bogged down by frustration, for 90% of it is rooted in self-pity and it only will interfere with positive action.

18. Do become a strong and knowledgeable advocate for yourself. If you don't, chances are, no one else will.

19. Don't ever feel embarrassment, for it is only stress in disguise. If you feel embarrassment, think about something else. Most events and happenings are not about you. Relax and enjoy the things around you... enjoy being a spectator.

20. And, most important, do have fun whenever possible (and it usually is!).

These should be posted on the refrigerator so the entire family may benefit from them.

Linda here - These were originally printed in the Prodigy Home Life Bulletin Board and is reprinted in Generations titled 15 DO's and DON'Ts for Living with MS by Thomas Cote, Connecticut, USA We did a little creative juggling so they'd apply to all of us with CMT and HNPP. Additions are welcome anytime.

Reprinted with permission from CMT International, Volume 16, Number 3, June 1999


Conservative Management of Hereditary Neuropathy with Liability to Pressure Palsies -

an excerpt by Julie Liebelt, P.T., C.H.T., Edited by Gareth Parry, M.D., FRACP

Pacing is a critical aspect of symptom management, particularly when you have started to develop a peripheral neuropathy. With any nerve related weakness, it is very easy to over fatigue the muscles, leading to problems with joints, ligaments and possibly causing muscle damage and further weakness. When a muscle fatigues, and can no longer perform its function, you are more likely to change the way you do things to continue the activity, overusing other muscles and possibly causing more (HNPP) nerve compression problems.

Pacing may involve spreading more difficult tasks out over the day, week and month. Depending on the severity of the symptoms, it may also involve eliminating some more difficult tasks or delegating them to others. You need to spend some time listing all the activities that you need to do and want to do on a daily, weekly, monthly and yearly basis. These activities then need to be prioritized, by what is essential versus optional and whether any of the activities can be delegated on a regular basis to family members or hired out. Make sure that something you enjoy is included in the list of essentials. Then you need to spread those activities out over the course of the week so you are not doing all the stressful activities in one day such as cleaning the house, washing clothes and shopping. Sometimes it seems more efficient to bunch activities, but when you become overtired and then can't function at all for a couple for days, you get a lot less done. As you schedule your day, you also need to schedule in breaks. It is better to schedule short breaks frequently, before you get tired, than a longer one once you are already tired. How long and how frequent the breaks are is dependent on the severity of your condition and needs to be determined by your symptoms.

Pacing may also involve accepting use of different assistive devices, such as canes, walkers, braces or a motorized cart. Expending all your energy in getting from one place to another so that you have to significantly limit your activity is a high price to pay for pride or vanity.

Linda here - Be it CMT or HNPP, the above advice makes a lot of sense, especially during the holiday season. We've talked a great deal over the years about overdo- ing the holidays. Remember, you do not have to DO the holidays. You CAN opt out, or you can make the holidays as busy or as light as you want. Take control. You'll be glad you did.


Walking the fine line

Personal observations of pacing activity

by Maureen Horton, MN, USA

At almost every appointment, my former physician used to remind me that I needed to walk the fine line between doing too much and too little. When I first started seeing him, he frequently talked about the downward spiral from doing too little activity (the less you do, the less you can do). Once he got to know me and my type A personality, his emphasis shifted to warnings of doing too much.

While pacing activity - to walk the fine line - is a critical aspect of HNPP management, as Julie Liebelt mentions in her article, it is also an elusive goal for me. For multiple reasons, the 'fine line' continues to move and at times feels like those computer jokes which ask you to click on "OK," and as the cursor nears it, the "OK" moves away. For me, walking the fine line is not just about pacing activity. It is also about balancing the cumulative effects of activity, pressure palsies, pain, weather, emotional stress, sleep/rest, personality and housekeeping issues. Needing to factor in all the above, it's no wonder that I find the fine line always moving.

HNPP is a disease that is greatly affected by activity. Many, but certainly not all, pressure palsies can be reduced in intensity or eliminated by changes in positions and modifying or eliminating pressure palsy causing activities. I have also found that pressure palsies can be reduced by resting the nerve and increased when the nerve is used more. For instance, crossing legs is a no-no for us, but I still occasionally do it. If I haven't crossed my legs in quite a while, it takes much longer for the symptoms to appear, and sometimes I can cross them for brief periods with no symptoms developing at all. If I have been crossing my legs routinely for a while, I can develop symptoms in seconds (the cumulative affect). For me, muscle fatigue follows a similar pattern.

Although HNPP is usually a painless disorder, there are some of us with significant neuropathic pain. I happen to be one and I find pain to be another changing variable. By keeping activity at a moderate level, I can maintain pain at a tolerable level. But overdoing or simply a buildup of the same activity (again cumulative effect) can cause an increase in pain. If for some reason, I have pushed activity too far, I can have less pain (probably due to increased nerve trauma) for a while. I tell my family that I want to live in one of those controlled environment domed cities. Humidity and falling barometers cause sharply increased pain. For me, when pain gets into the 8-10 range, I find it hard to move. Humidity by itself causes an increased susceptibility to pressure palsies no matter what my activity has been. Heat saps my energy. And I stay cold, although moving, all winter long. Emotional stress can cause an increase in pain. Lack of sleep or rest also can increase pain, but is more likely to increase muscle fatigue. Apparently my muscles need eight hours of rest at night as well as frequent breaks during the day.

My 'type A' personality and living with four boys (ages 17, 19, 20 and 50), who don't see what needs to be done, are undoubtedly my largest reasons for crossing the line and doing too much. And this is an area I continue to work on. I have given up many of my previous housekeeping standards simply because I can't do as much any more. Until cleaning help can become a reality, I delegate what I can. My guys need or shall I say want to be told what to do. So they are told everything from cleaning bathrooms down to taking out the trash. We live with post-it notes on the kitchen cabinets. Quality control and how soon they will get to their chores are reasons I step in. Sometimes I want it done now, so I do it myself. Definitely a "type A" symptom.

Also "type A" is a sense of being driven. If I have something to do, and I always do, I want to get it done. With HNPP, the prudent thing is to stop an activity if any signs of numbness/tingling or weakness appear. I have to take an activity and divide it up into smaller parts and only do so much a day, instead of completing it all at once. This in itself can feel like torture. Even if I have paced and planned out how long I will do an activity, nerve or muscle symptoms can shorten the allotted time even further. I find it very, very difficult to stop in the midst of what I am doing. This is when I feel the most frustrated with my HNPP. My self-discipline still needs work. It is hard to be almost done with what I want to do and have numbness or weakness tell me it is time to quit. I am as likely to continue a project to its completion as to quit when I should.

I now know that the line between doing too much and too little really is a very fine one with not much leeway before trouble begins. By observing how various factors influence me, I have become better able to control my energy levels and pressure palsies. Sometimes I choose to do something knowing full well that I will pay with increased pain or fatigue and/or numbness. But I will also try to limit how much I will have to pay by letting go of most of my other activities. Even though I am no longer employed, I continue to use a weekly planner to schedule my activities (larger ones first), rest, exercise, etc. For me this works. Now to train the boys and tame the personality!

Reprinted with permission from CMT International, Volume 16, Number 6, December 1999


Surgery a success

I would like to start this letter by saying that CMT Newsletter issue No.90 ( December 1999) was a fantastic effort and as timely as it could be. November 19 was open heart surgery for me to get a new aortic valve and mammalary bypass. We passed around Dorothy Gosling's definition of HNPP and the Liebelt and Horton articles to the surgeon, rehab, and cardiologist people. I came out of it with a 20 lb. weight loss and a couple of persistent palsies, which is definitely better than the alternative.

Ed More, NH, USA

Reprinted with permission from CMT International, Volume 17 Number 2, April 1999


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 nerve disorder.

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 know I 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 to go 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 causes pressure 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, Feb/march 2000


Growing older with HNPP

by Maureen Horton, Minnesota, USA

This article is based on an interview with my father, Alan Phelps, who turned 88 in September. My (much younger) mother, Gayle, sat in on the interview and added some of her observations.

My first problems-- and I am not sure if they have a bearing on this or not-- were when I was a kid, in the 4th or 5th grade. I had pains in the back of my legs going into my buttocks. My mother associated those with growing pains. Those were the first, but they lasted a long time. About 1924, I supposedly had scarlet fever and as a result of that would have the pains. Aspirin would take care of them, but as I said, they lasted for years. I am trying to remember how I got by in the army with that. Aspirin wasn't readily available and there certainly was no drug store on every corner in Europe.

About 1931 or '32 I had dropped wrist a couple of times one winter, but they were almost always for only a day or so. My hand wouldn't work right and I had to push it back. Then there was the paralyzed 'spino- something' nerve that happened after holding up a transmission. Mostly what bothered me was my wrist, but they said it was a nerve going up my whole arm. My mother took me to all sorts of doctors and chiropractors trying to get an answer for it. Eventually, after about a year, it got better on its own. After that I had no real problems until I got older. There was a long period of time-- years and years-- where I didn't have many problems. There were no major problems in the army. I got married and raised four kids. I was a civil engineer and most of my paid work was desk type jobs. But I did do things around the house. I built a single car garage by myself in the '50s before power tools were popular. And I remodeled kitchens and bathrooms along the way and tore down a different single car garage and replaced it with a double garage. Then we turned the porch into a family room. My arms and legs would go to sleep easily from sleeping on my arm or sitting on the floor with my legs crossed. But even those would only last a few minutes.

My current problems with this HNPP began when I was in my sixties. It was around the time I retired. Other than the hand numbness, shooting pains and floppy feet, it can be hard to tell what is the neuropathy and what is aging. I think what slows me down, in getting around, is my angina and joint impairments, not so much the neuropathy. I don't know if it was Dr. Parry or who it was who thought my grandpa's having trouble with his knees holding up was this neuropathy. I had seen a neurologist about my various problems and he thought it was CMT or something like it. My daughter found out what it was. I was diagnosed in 1985, so I was 73 then.

Since retirement, I get those shooting pains, electrical pains, mostly in my feet. I can have those pains in any part of my body; arms, hands, calves, thighs. But it is worse in my feet. I can go for days with nothing and then sometimes it feels like it is with me all the time. Crossing my legs a certain way can create problems, like those pains. I have some feeling in my hands, but basically they are numb. I can't always tell what my fingers are going to do, which makes it very difficult to do almost anything. While I still can do things it's slow and time consuming. It can take me several hours to do something that takes 10 minutes for someone else to do. It gets frustrating. I've given up and just don't try to do things (Gayle: But at his age, isn't sure what he should be doing). I do jigsaw puzzles and I spend about as much time picking up pieces I have accidentally knocked on the floor as I do trying to put the puzzle together.

Somewhere along the line, I did lose my sense of balance (His wife notes, to prevent falls, he uses furniture to hold on to in order to walk around the house. He is resisting the use of a cane or walker). If I have been sitting and not very active, I stand up and let my joints thaw out before I start moving because I don't know if they will hold me up or not. It is hard to keep up with my wife. She has things done by the time it takes me to get out of the chair.

When asked what advice he would give to those who are younger he said: It is a slow process. You can live with neuropathy for years and not know you have it. For problems functioning with numb and weak hands, I think that for things that are repetitious, you could try and perfect some way of doing it that would cut down on time. The reason I quit driving was there was no pleasure in it anymore. I was always worried about getting in an accident. I had no trouble giving it up at all.

Gayle adds: Don't let him wind the clock or unload the dishwasher. He gets angry when I allow extra time to get to an appointment. He may say it only takes 10 minutes to get there and I allow a half hour. But by the time he gets up and gets to the car and gets buckled in, we get there just on time.

When asked if there was anything they would do differently in their lives, knowing what was to come with the neuropathy, they both answered no, they wouldn't change a thing.

Reprinted with permission from CMT International, Volume 17, Number 6, December 2000/January 2001


Fatigue, sleep and HNPP

by Maureen Horton, RN (MN, USA), with contributions by the HNPP e-mail support group

When I first asked the group to contribute their thoughts and ideas about fatigue, getting a good night's sleep seemed to top their list. We tend to think of pressure palsies as activity related-- cutting with scissors, kneeling, crossing one's legs, etc. But, the pressure palsies of HNPP are not just a daytime problem. Sleep can be frustratingly elusive, with a numb limb awakening people from once to several times a night. As one group member wrote, "I, too, wake MANY times a night to reposition myself. Sometimes I have to take one hand and grab the other arm to move it because it's totally dead all the way up. Then I lay there and wait for it to wake up because I'm afraid that it won't wake up and it will stay dead like that. It hurts when it wakes up (not for all people) but it's a relief to know it 's waking up and then I can go back to sleep". This writer's fears are valid. There does seem to be a correlation between the severity of a pressure palsy and the length of time the offending activity or position has lasted. Waking up and repositioning can make the difference in a pressure palsy lasting a few minutes instead of a few weeks or months.

Yet, not all people have trouble with nocturnal numbness and those who do, do not have it every night. Some may go for several nights or weeks with no problems sleeping, followed by a period of time when they are bothered every night. Why this happens is not clear. One plausible explanation is that for a period of time, they find a sleeping position that does not put pressure or stretch on the nerves that are more susceptible at that point in time. The ulnar nerve, from the elbow to the pinky and ring fingers seems to be the chief culprit of night numbness. But a whole arm or leg going numb or "completely dead" is not unusual either. And, typical of daytime problems, which limb is problematic seems to vary over time.

No 'one' position There seems to be no 'one' position that makes things worse for an individual, just as there is no one position that makes things better. But sleeping on one's back, does seem to be a slightly worse position, in part because the ulnar nerve at the elbow is resting against the mattress. Yet some can and do sleep on their backs, finding this the only position for them. While others can only sleep on their sides. Some are better if their arm is above their head. For others, this is a sure fire way of causing a pressure palsy. The descriptions of how to position oneself can be quite exacting as this one response indicates, "Can you sleep on your side ? If so lay the upper arm along your side for support and bend the lower one but put the forearm vertical across the abdomen. This will ease the pressure on the nerves at the elbows. It is the only way I can go to sleep comfortably and on the right side only to boot."

In addition to sleeping positions, the group is full of ideas of products to help ease the night numbness. Well padded elbow pads and wrist splints, can help arm numbness that is caused at or below the elbow, but will do nothing for numbness originating in the shoulder. King sized beds, soft sided water beds and Craftmatics brand beds have been tried with varying success. Beds have been topped with one or two foam pads, as well as magnetic pads. Some think feather beds make a substantial difference. Lots of pillows seems to be the order of the day -- neck supporting pillows, body pillows, pillows between or under the knees, pillows to support an arm or under an elbow. One woman wrote, there were so many pillows in her bed, there was barely room for her spouse! Yet, despite how the pillows may help, they do become cumbersome when one needs to turn over or change positions frequently because of another body part acting up.

Arms or legs going numb while sleeping is a real problem for some who have HNPP. There is no one cause or solution. And any solution may be fleeting. Medications to help sleep, may cause a deeper sleep which would mask what appears to be our built-in early warning system. So, night after night, we keep trying to find the right combination of pillows and pads and splints and beds and positions to get a good night's sleep.

Reprinted with permission from CMT International, Volume 18, Number 2, April/May 2001


HNPP Advocacy

by Maureen Horton, RN (MN, USA)

I began working as an HNPP advocate in 1997. At the time there was absolutely nothing for people with HNPP. There was no HNPP International; no organization taking it under its wing; no brochures; no patient education articles for people to read. Nothing. Nada.

My first effort was to contact Linda Crabtree. Linda was willing to provide space, for HNPP, in the newsletter, if I would write the articles. Dr. Gareth Parry became my mentor and agreed to edit when necessary. And HNPP has been in almost every newsletter since. The next step was the HNPP web site, which made its debut in April, 1998. I consider it under constant revision as we find out more about HNPP.

Advocacy really has to start with the person with HNPP. It is imperative that they learn about their disease. Not only in terms of how it does affect them, but how it can affect them. Our nerves are vulnerable to injury from pressure, stretch and repetitive use. And people with HNPP need to know this, backwards and forwards, in order to advocate for themselves. They need to speak up when they could be inadvertently injured by others. Even the dentist can cause injuries!

I usually advise the newly diagnosed to ask for four to six sessions with an occupational therapist to help them learn how to cope with their disease. But I caution them that most have not heard of the disease. Also, they should ask for a therapist who is willing to learn about HNPP and bring in the information for them about HNPP.

I think there are several ways to spread the word about HNPP, beyond CMTI and the web site. First is word of mouth to family and friends. Family to help identify others. Family and friends to help them understand any limitations you may have.

Second is to the medical community. When seeing new doctors, regardless of specialty, I bring information about HNPP. I do want the doctors treating me to know about my condition, but it is also a way to educate them to a little known disease. On several occasions, I have had my doctor say that they would read the information and also share it with their partners (I am walking on air when I leave those appointments!). I do the same with any physical or occupational therapist I see. And I encourage all others with HNPP to do the same.

I think the media will be next. So very many with HNPP are undiagnosed. We need to somehow get the word out about this disease, so that people might recognize the same symptoms in themselves and see their doctor.

Recently there was court action, here in the United States against Burlington Northern Santa Fe (BNSF) Railroad, who did genetic testing on those employees with carpal tunnel syndrome, applying for work injury claims. The genetic testing was for the chromosome 17 deletion, which is HNPP. And the railroad did this without the knowledge or consent of the employees. What the railroad lawsuit brings to light is the question of what to do with the technology we have. Clearly BNSF was wrong here. And they did agree to stop testing. But how much can or should your employer know about you? Can you be fired or not hired for a job due to your genes? And what about health insurance for the countries where it is not "socialized medicine"? There are some in the U.S. who are reluctant to be tested for HNPP because of insurance and employment issues. Another way to advocate is to be writing your government officials and asking for laws to protect the individual

Reprinted with permission from CMT International, Vol. 18 Number 3, June/July 2001


Last updated 12/01