By Maureen Horton, R. N. , BA
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In the Fall of 1997, an Internet support group was formed for individuals with HNPP. Over the course of the past two years, that number had grown to the high twenties, with individuals joining and leaving as they see fit. In addition to supporting each other, there has been a great deal of symptom comparison. This was intense at first, and continues to this day, as new members join and want validation of what they are experiencing.
Over the past two years there has been some talk about surveying each other. In the Spring of 1999, the group finally decided to go ahead with a survey. All members were asked to contribute the questions they wanted to ask. The survey is made up of these questions.
This survey was done primarily for the group itself. While fully aware that the numbers are too small to draw any conclusions, it is hoped that any HNPP researcher reviewing this information will be inspired to take a wider view of HNPP symptoms in their studies.
Of the 15 individuals responding to the survey, there were 7 females and 8 males. Ages ranged from 22-66, with 5 each in their 30's or 40's. All reported having had genetic testing with results positive for HNPP. All but three indicated that they had other family members with HNPP. Those responding ranged from very mild HNPP with infrequent symptoms to those with significant disability and daily problems.
Age of onset of symptoms ranged from age 4 to 46, based on hind sight. 60% reported symptoms before age 18. Interestingly, the majority (73%) have only been diagnosed in the past three years, giving them an average age of 39 at the time of diagnoses. Early or first symptoms included problems with balance coordination, frequent sprains, drop foot, numb fingers, motor control, weakness, arm tremors, back problems and abnormal sensations in legs.
When asked if they were diagnosed with other diseases before getting the HNPP diagnoses, 11 individuals or 73% responded affirmatively. Five were diagnosed with CMT. Other diagnoses included: MS, pinched nerve, peripheral neuropathy, back disease, ulnar neuropathy and carpal tunnel syndrome.
Testing, prior to diagnoses, included: Physical exam, EMGs, Nerve biopsy, muscle biopsy, genetic testing, other blood work, ANA testing, temporal artery biopsy, Bone scan, X-rays, CT Scans, MRIs, myleograms, spinal taps. It appeared that those who had the least amount of testing had other family members already diagnosed with HNPP.
Nine of the 15 reported that their doctors were unable to elicit ankle reflexes. When comparing right and left sides, 7 felt there was no difference, five felt their left sides were worse and two felt their right sides were worse than their left. One person did not comment. Comparing upper and lower extremities, two felt their hands and arms were more problematic than their feet and legs, 5 felt their feet and legs were worse and 7 felt there was no appreciable difference between their upper and lower extremities. One person did not comment
The seven women were asked if they noticed any difference in their symptoms during pregnancies or premenstrually. In regards to pregnancies, one didn't notice, four felt there was no difference, one reported increased symptoms and for one this was not applicable. Three women felt their symptoms were worse around the time of their menstrual periods, one did not see a difference, the remaining two were: "didn't notice and no answer.
The group was asked if they noticed any deterioration in their HNPP after any periods of extreme stress, surgery or injury. Eight or 53% felt there was deterioration related to stress. They reported car accidents, working over times, family stress, returning form a stress free vacation, injury as all causing an increase in symptoms. One reported" mental or physical stress cause flare ups approximately 3 days later". Another said, "family stress with disagreements will put me down for a week or two. This includes just differences of opinions. Hate to think what major upsets would so". To this question, 5 reported no increase in symptoms and three did not respond.
Review of Systems:
It did appear that those who had more mild HNPP had less problems through out the review of systems.
Two thirds of the group reported temperature intolerance and/or reacting to weather. Cold extremities that they couldn't get warmed up (often preventing sleep until warm), inability to tolerate heat, heat causing exhaustion and flare ups, "I can't stand the cold so I stay in", problems with humidity and lower barometric pressures were among the most frequent replies. Other reported joints aching with humidity and hot water feeling cold for only a second and feeling irritated by cold materials.
Only four reported problems in this are. With the remaining 11 either denying problems or not answering. Three reported rashes. Only one gave a detailed description of the rash:" I often have a rash like little water blisters all over, spread out quite a bit. I also get a red rash like Rosaceae on my face but not in a butterfly pattern, but all over my cheeks and chin.". This individual also reported hair falling out and brittle nails. One reported feeling like the skin was burned and being uncomfortable touching something or being touched.
Blood and Immune system.
Only two reported problems in this area. One said" I have a positive ANA so my immune system is out of control". The other reported taking immunoglobulin for six months which helped some. Prior to this past winter this individual said s/he had flu like symptoms several times a year.
Two thirds mention problems with their bones or joints. One reported joints that were too flexible, the rest talked of aches pain and stiffness. Comments included: Every morning I wake up stiff", I have achy joints and stiffness off and on". Areas involved, when mentioned, included: hands, elbow, shoulders, lower back, hips, knees, and ankles.
80% of the individuals polled, told of neuromuscular problems which they did not relate directly to their HNPP or pressure palsies. They reported back pain, muscle cramping and weakness, eye muscle weakness, migraine and other headaches (for one they are constant), restless arms and legs, and difficulty sleeping. Seven said they experienced dizziness from once in a while to every day to "every time I eat". Seven have passed out at some time int their lives for a few seconds to two hours
Six said they have or have had emotional problems. Depression was universal among them. One also reported anxiety and panic attacks. Of these six, two feel they are over it', one feels controlled by medication, one is under going counseling and for two it is periodic. When asked if these problems were evident before their HNPP diagnosis, the answers were evenly split between yes', no's and no answer. Four did feel that their problems were related to their HNPP diagnosis.
Ten, or two thirds of the group, reported a variety of eye problems other than being near or far sighted. These included: "In the last year my eyes have gotten worse and I have needed to purchase new glasses, eyes getting worse faster and needing new prescriptions every six months, trouble focusing, eyes feel different - hard to describe- like it's stuck in one position and I can't move it, bioveal fixation right eye, pigmentation of the retina, focus on distant objects is difficult to keep for mor than a few seconds (only has vision in one eye), floaters, burry vision at onset of flare ups and blurred vison once in awhile not believed to be floaters".
Hearing problems were almost evenly divided between yes' (7) and no's(8). The individuals wrote about being hard of hearing, losing hearing,, days when doesn't hear well, not hearing some frequencies and relatives thinking that their hearing was bad.
Only three reported problems in this area. One mentioned swallowing problems and some hoarseness, one bad teeth which started at age 22 and one feels "stopped up all the time". When asked about unusual dental problems, four responded. Problems included: dentures, bad guns, lots of fillings and multiple root canals. Root canals were specifically questioned since this seemed to be an unusual problem for some. Eight or 53% reported having had one or more done. Root canals broke down as follows: Two had 1, two had 2, one had 3, one had 4, one had 6, and one over 20!!!
Nine or 60% reported problems in this area. A feeling that they were not able to breathe deep enough was the most frequent concern. Some qualified this by saying it happened with lying down flat on the back, when upset, or while concentrating on something. One described short periods of pain with breathing. Two felt short of breath; one all the time and one intermittently. One described a feeling like' there is a heavy object on my chest at times, often just before going into a flare up. I feel like my chest is too weak to breathe". One reported sleep apnea or quitting breathing while asleep which woke the person up. Nine, but not the same nine individuals mentioned above, said that they smoked currently or in the past. Number of cigarettes smoked ranged from 1-2 per month up to a pack a day.
Heart Blood Pressure/Circulation
Eleven or 73% found this a problem area. Of these, six mentioned poor circulation in their legs as an explanation as to why their feet are always cold. Two reported low blood pressure and one high blood pressure. One has aortic stenosis, another an abnormal EKG .
This was an area where many wrote at length explaining their problems. 73% said yes to this question and actual responses follow:
Nine or 60% reported bladder problems. Their actual responses follow:
Questions about Physical Appearance
Sixty percent of the group reported having high arches. Five or 33% felt they had foot deformities. These included hammer toes (x2), crooked' toes, "thinning feet' and claw toes. Only four felt they had any hand deformities and this was described as clawing, fingers starting to deform and muscle wasting in their hands. Eight or 60% felt they had muscle wasting. Arms and legs were both mentioned in equal amounts. One describes overall muscle wasting and seemed to be relating that to weight loss and GI problems When asked about other physical things that they wondered about being related to HNPP there were two answers. One suggested impotence. Another said, "Thought process in relation to physical response of body and brain. Seems to lack appropriate responses during flare ups. What I think you want to do and ask of your body to perform, just doesn't happen unless you have visual contact and then only a limited response"
Questions about Pressure Palsies
Next the group was asked specific questions about their pressure palsies. The difference between those who had many attacks and those who had few was very apparent here. Those having fewer attacks seemed to have less problems overall with pain, weakness numbness and foot drop.
When asked to relate how many pressure palsies they had over all, 73% said they had too many to count'. Three gave actual numbers of 5, 15 and approximately 50. Next they were asked to delineate major and minor attacks and indicate areas of involvement and length of pressure palsy. Forty percent indicated they had 2-10 major attacks of pressure palsies. The length of an attack varied greatly, from hours to days to weeks to months to permanent. Two indicated recovery times of 9 months. Hands. arms, feet and legs were mentioned most for areas of involvement, with 86% indicating multiple sites (e.g. both arms and legs). Shoulders. hips and face were also mentioned. When asked to indicate the number of minor attacks they had. there was more diversity in their descriptions. Tons, too many to count, every night, hundreds, millions, countless, daily, innumerable, and unknown but A LOT' were among their descriptions. Hands and fingers were the most described sites with 66% indicating problems there. 46% mentioned legs and feet. 20 % indicated minor pressure palsies involving their whole body. The length of a minor pressure palsy was evenly divided into three groups. All indicated a few minutes as the shortest length of time. For the longest length of time, 26% said a few hours, 26% said a few days and 26% said a few weeks (up to 4).
When asked how often they experience any pressure palsy, 60% said they had them daily or multiple times pers day. 20% had them weekly and 20 % indicated only a few ever, monthly or permanent problems. Six (40%) individuals felt they had more abnormal sensations than motor problems, one felt the motor problems were greater than sensory and seven (46%) felt that motor and abnormal sensations were about the same. Eleven(73%) felt that their pressure palsies resolved gradually. But 4 indicated they also had times when they would stay bad for quite awhile and then quickly get better. Another four had permanent problems or only partial recovery from a pressure palsy.
80% felt that once they had a pressure palsy in one area, that they were more prone to get another one in the same area. With HNPP, there seems to be periods of skin numbness without weakness. This happens in both, areas usually associated with a Pressure palsy, and areas not usually associated with a pressure palsy, such as the back of a shoulder, lips or a thigh. 100% indicated that they had experience areas of only skin numbness. Two thirds of the group reported scalp numbness. For two it was permanent, the others reported short durations minutes to hours , but none more than two weeks.
When asked what caused their pressure palsies, one would think they were copying from of each other. Crossing legs (even briefly), walking, sitting, leaning on arms, use of scissors, the computer mouse, carrying heavy plastic grocery bags were among the most frequent answers. They were able to be more specific and have a greater number of causes to arm and hand problems then any leg ones. In addition to the above, the group also indicated these following causes of their pressure palsies:
73% indicated that they had permanent numbness with the majority of those indicating it the their feet and legs. Another 73% felt they had permanent weakness. The location was more evenly divided between arms and legs. Neck and back weakness was also mentioned. Ten reported that they had experienced drop foot. Nine had involvement of both feet, one only the left. Six had drop foot daily, four intermittently.
Next the group was asked questions pertaining to any pain they might experience. First questions were asked about aching, muscle cramping and actual sensations of pain. 73% had aching, 60% had muscle cramping and 86% had pain. In all but one instance, they felt it was definitely related to their HNPP.
To describe their pain, they were given ten descriptive terms (ones they had been using themselves in their support group) and an option to describe something else. They could choose all that applied to them. Fifty percent checked that they had sharp electric like jolts, aching, cramping and sharp pains running down a particular nerve. 36% indicated burning., 28% stiff and sore, 21% like a charley horse, and 14% each said spasm, like a sprain and all of the above. One described pain like shin splints and one a headache. Of the 15, only one had no pain at all. The group was much more divided about what kind of pain bothered then the most. Three felt aching was the worst, two the sharp electric like jolts or burning and one each pains running down particular nerve, spasms, stiff and sore. One said when my legs get uncomfortable". Asked how often they are bothered by pain, 6 (40%) said everyday and 5 (33%) said several times a week but not every day. Three had pain less than once a month.
Using a 0-10 scale with 0 being no pain and 10 the worst ever experience or imagined, they were asked to rate what their pain was usually and at it's worst. Usual pain ran the entire scale form 0-10. Two had pain in the 8-10 range, Five in the 5-7 range and Seven (46%) in the 1-4 range usually. To describe worst pain the numbers climbed, which is not unexpected given the usual descriptors of neurological pain.. Eleven (73%) had worst pain in the 8-10 range. Only two had worst pain in the 1-4 range.
The group revealed a wide range of ways of treating their pain form traditional medicine, to herbal remedied to mechanical means to complimentary (alternative) therapies. As one person wrote, "anything from taking Tylenol to exercise to relieve pain". One uses the HNPP itself to try and help the pain, saying , "I try to make myself go numb"! Other pain control measures were as follows:
OTC - ibuprofen capsaicin ASA
Prescription Meds -Oxycontin, Rivotril, Paxil Tylenol #3's, muscle relaxers Trazadone, Ultram
Mechanical means-heating pad, shower, rubbing the area,
Physical - getup and walk, stretching, getting off my feet, rest ,moderate activity, roll over, exercise
Vitamin/Herbal-tiger balm Vitamin E, C and A
Complimentary therapies--massage, craniosacral therapy
93% said they felt stiff after sitting for awhile. Some individuals (33%) have a sensation of their hands feeling swollen even when they do not appear swollen. 60% did not have this problem. When asked if they had times when their hands felt swollen and also did visibly swell, the numbers went to 26% yes and 73% no. 80% said they had balance problems ranging from 2 times per year to multiple times per day. 80% have fallen from once to too many times to count. 86% indicated they trip over their own feet. While the range continued to be from a few times to all the time, more people were having more frequent problems with tripping than with balance or falling. 53% said they could tell where their hands and few were all the time. 33% some of the time, and 13 percent had a constant struggle with position sense.
75% said they had trouble with doing up buttons, zippers, handling small things and other fine motor activities. 73% had trouble writing when they did not have a specific pressure palsy in their hand. Many mentioned that their hands became tired very easily while writing and then they would begin to hurt or cramp. Penmanship deteriorated the longer they wrote. 60% indicated that they drop items frequently.
Four indicated they had allergies, ten said they did not .
Fatigue and Sleep
80% indicated that they are bothered by fatigue. Those that described their fatigue were describing significant daily struggles: " Any physical activity simply tires me out". "Almost any activity any time now". "Depending on what I am doing, mental work tires me out after about 6 hours, physical work tires me out after about 1 hour. "... quickly and everyday. Daily life causes fatigue. Getting up and walking to the kitchen in the morning makes me tired". "Yes, everyday I experience fatigue this is probably my worst symptoms of HNPP". "Walking too much, not sleeping enough, stress, can all cause fatigue and buy walking I mean 15 minutes or so. Hills seem to be my enemy. I can walk for long periods of time on flat ground". Two third of the group indicated problems with sleeping. Pain and numbness were the major obstacles to being able to sleep
Treatment for the HNPP
Three individuals indicated they had surgery relate to their HNPP. One had Carpal tunnel release surgery on both hands(helped for two years), one excision of the upper phalanges except the great toe (helped slightly) and one had a nerve biopsy with blood flow analysis.
The questions of how their HNPP was being treated was divided into two parts: a general question and what aides they were using. 53% indicated they were getting no treatment. The rest mentioned their pain medications and other ways they were treating pain as mentioned above. Two thirds of the group used some form of mechanical aides to help them. Wrist splints, elbow pads and AFO's were among the most common. Three use scooters or wheelchairs. Corsets, canes walkers, house adaptations and arms slings were also mentioned.
Life Style and Activities
Ten (66%) continue to work, tending to more office work/sedentary types of employment. One does continue to work as a R.N. in a hospital. 60% participate in some form of exercise, including: walking, running, biking, stretching, volley ball, dancing, table tennis, sailing, total gym, and circuit training. The group was evenly divided on their opinions if exercise made then better, worse or really made no difference in their HNPP.
80% said that they had changed their activity because of their HNPP. 46% felt their lives had changed drastically, 20% felt they had made a lot of changes and 26% minor changes. Activities they had to give up include, but are not limited to: working, dancing, running, going places, painting, wallpapering, sports, walking, cycling, all my housework, aerobics, weight training, swimming, wrestling with kids, snowmobiling, working on scaffolding, repetitive motions, lifting weights, extended periods of exercise, detail work with hands, climbing, lifting, or as one wrote, 'most activities'.
Adjustments to HNPP
When asked how they adjusted emotionally to having HNPP, they wrote:
Some wrote about their methods for adjusting and compensating for problems they were experiencing:
General advice -For all of these I stop doing it or take it in small doses, lower expectations, be very careful moving, think ahead, minimize wasted motion, ration myself, get help, where I can find it and pay others to do things.
Every thing in moderations and I listen to my body and judge what I can do on a particular day
Sleeping - sleep take sleeping pills, Try to get as much as I can, Drugs, get up every couple of hours and walk, silicore mattress
Working - Retired, different job classification, Take a lot of sick leave, trade away my midnight shifts when I can switched jobs
Shopping - shop a little at a time or take help, or have someone else do it, Scooter, minimize long walks in the malls, Internet or catalog shop
Cooking take out foods or convenience foods are my friends, cooking is a nuisance, I get burned a lot can't feel heat in stove, I don't carry stuff that would end up on the floor
House Maintenance get help from kids or friends, . Do a little at a time, Like to keep the house clean, but am always behind, Slowly and ask for help, leave bigger messes, unable to clean up, my husband does house cleaning
Numbness live with it, Am constantly readjusting my body position to avoid getting numbness, mostly ignore it, avoid things which cause numbness, Vitamin E and splint, stop activity
Weakness scooter Vitamin E and splints stop activity
Fatigue - REST, Try not to take on any jobs I know I won't be able to do, or complete in time allotted, sleep Vitamin E and splints, stop activity
Position Sense be aware of position more, Touching walls, holding onto railings etc,.slow down, more visual effort required
Walking - use cane if need to, scooter, reduced amount
Running- no way, reduced amount
Sitting - keep adjusting positioning, do not sit too long, Not a problem as long as seat is soft, even then I have to move around move when sitting/lying causes numbness, move constantly, big recliner
Driving as little as possible, get help from friends No problem yet, Miss brake or accelerator sometimes!, no long distance without a lot of rest breaks
Eating and/or Swallowing - take Propulsid, drink boost or ensure , A big problem, have to be careful when eating, chew food to a fine pulp before swallowing, and always have a drink ready to wash it down in case it gets stuck (happens frequently).Still working on it.
Dressing - no problem except undoing bra straps sometimes get help, Wife helps with belts and buttons sometimes.
Bathing ok except really bad days need help getting out of tub, Shower & hand held shower head.
When asked if there were symptoms or problems that they were having that most other people outside their family do not have or if there were there any problems or symptoms that seem to run in the family, the following responses were submitted
There was one additional comment: "In recent years an increasing problem with getting hands or feet into motion has been a problem and when they are in motion getting them stopped is a problem too., I was never able to move in coordinated rhythm such as dancing. Losing grip on things is a problem, too and was the initial cause of diagnosis. Sleeping problems came from muscle soreness caused by being in one position too long"
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