PN
 

Cyclelops, I am confused as I'm not quite sure what you mean that there is a break in period for AFO's. And that they are very painful. I realize there are many kinds of peripheral neuropathy. I have Charcot-Marie-Tooth disease (CMT for short). Perhaps you have heard of it. It is the most common "inherited" neurological disorder and is found worldwide. There are a number of types of it and sub types as well that they now have found. It is slowly progressive and causes deterioration of the peripheral nerves which control sensory information and muscle function of the foot/lower leg and the hand/forearm. And, of course there is much more.

At any rate, there is footdrop and lots of other things which do require at some point AFO's. I'm not quite there yet. However, from everything I have heard from people who have this and who wear AFO's, there should not be any pain. There would be adjustments that would have to be made to the AFO's. A person with CMT needs a brace person who understands CMT and how it affects the feet/legs.

Again, I do understand that there are many, many types of PN. I just wanted to bring this forth. There is, of course, much more information concerning CMT. I do appreciate your post and find it full of information. Thank you.

Kitt:)

No need for confusion, what you are hearing from me and the CMT folks is congruent.

I do have a brace person, called an orthotist. I know some PTs do them, but orthotists have a lot of knowledge and I found the orthotist to have the most options, and he really listened to me and gave me a good eval. An OT did my hand splints.

When you get orthotics, they give you a 'break in' schedule....(I think they disregard how much some PNers do hurt from this and get too aggressive with it and some folks give up on them....I do OK with their break in schedules).

They go something like, 'wear for 2 hours day one, 3 hours day two, etc'....that is when it is a bit painful....I don't feel my feet much, so I guess I have a bit of advantage there. My nerve fiber density from the knee down was below 2, 4 years ago, when I still felt things. I mostly get achey feet or cold feet if anything....I do not feel injuries.

When you change the foot position, you change the knee position, hip position and even the back....the foot, your gait, essentially affects places you would not expect.....often times, an orthotic will help a person with back pain for example.

Anyway, they don't have you wear the device all the time, in general, and even once broken in, such as the spinal one and the AFOs they don't want me wearing those all the time...the shoe ones they do....except I do go shoeless in the house some of the time, which they said is OK.

Your body is used to a certain gait, and when you get orthotics, you have to basically 'break them in'. I got my first ones, after I had a medial tibial plateau fracture from gait abnormalities...and it didn't heal for a year, and ended up needing an electromagnetic coil. This was before they suspected neuropathy.

I have both spinal, hand, thumb and shoe ones, and I will be getting AFOs as well, as I have mild foot drop, which is fairly recent. (I am 55, so not a spring chicken and my foot drop comes on after about walking 400-500 meters...I also have myopathy, but up in the bicep...I likely have it elsewhere but that is where they did the biopsy.)

I also have a night AFO, as my feet plantarflex at night and that causes a lot of dorsiflexor pain....I can't get my foot back in the 'L' shape without a lot of pain...so they don't want the foot plantar flexing at all at night. That will be hard to get used to, sleeping with something on my feet. I do have to take Baclofen and diazepam to manage spasms, and we are still working on the right dose.

I have not yet been thru the CMT gene testing, but the doc is leaning in that direction for diagnosis. Right now he is just calling it an autosomal dominant hereditary neuropathy and/or anterior horn cell disease. They are finding new gene loci for HN and or CMT whichever it gets called in each case, all the time, so it is a matter of when to do it, and how much it will cost and who will pay. I will know more about it in a few months. I think right now, they can identify roughly 20 genetic loci for CMT, and they keep adding new ones all the time. I have an axonal neuropathy. I know my doc is not real big into testing for the genes...I would like to know, personally, as I have kids, several with symptoms...but they are grown, and won't get tested, as they have me to get it done. My doc feels we can wait for more symptoms to arise and then nail down the gene loci better and not cost a fortune testing for stuff that is not at all in the ball park.

I will be getting my second spinal orthotic. The spine issue is more difficult to pin down as I was hit head on by a truck going 55mph, so, I have several calcified herniated discs....we do have a kid with scoliosis, so it is hard to say if my spine issues are genetic or from a good whack.

I also have hand ones for sleep and daytime thumb splints, that really do help, altho they interfere with things....and people who go to shake your hand, kinda get taken back with what is on your hand if they don't see it first...LOL, I had someone recoil a while back and it was the first time it happened....it was no big deal once they saw it was just a plastic thingie. Kinda surprised me as I just didn't think about it, as I didnt really remember they were on or that some one would think they are odd.

My old orthotics, 3 years old, are no longer correct, as my gait changed, again...usually insurance covers 2 pairs of shoe orthotics every two years...I guess mine just changed that to one pair, LOL, big surprise. With progressive neuropathy, your body changes, so your orthotics have to change. I am getting carbon fiber AFOs with a stay in the back due to my degree of hyperpronation...orthotist was afraid I would break a medial stay and that costs $$$. There are all kinds of AFOs, so it depends on what your issues are....that said, they are pricey.

AFOs and the spinal one, they do not pay for like the shoe ones, which are 'relatively' cheap....these I think I am to make due with for quite a while altho I am sure they can be adjusted?

Anyway, they hurt during break in, and this will be my third break in....once broken in and you get used to the new positioning, it should be fine, and they should not hurt....until your body changes again and you get to go thru it again. I can't stand to walk any distance, with out my orthotics. I am supposed to wear stockinette under my hand and thumb ones...but I get cheap and just cut up old thin socks. Oh, I can only wear one hand splint at night, I alternate...you can't stand to wake up and be all tied up. The night ones for my hands keep my wrists from bending inward. (I don't know if I explained that very well....) They are not like carpal tunnel ones, but custom molded plastic that also keep fingers from curling under.

Also, it is important for orthotics not to rub on skin...ulcers in PN are nasty to heal, so it is important to let the PT or orthotist know if anything doesn't go well during 'break in'. That is what people with CMT refer to when they say they should not hurt, and they should NOT hurt, past the initial break in, once your gait is adjusted and you are used to the new positioning. If they do hurt, or any skin is being rubbed off....go right back to the orthotist...right away, so you don't get nailed for paying for a bad fit! They cost a fortune.

It is also important, in my opinion and my orthotists opinion, to try to go without, so all muscle strength is not lost. Hope that clears things up.

Since you have a diagnosis of CMT, can I ask a few questions? (We don't have many CMTers or hereditary PNers here) I do read the CMT forums, however, can't find a few answers to questions.....I know these are kind of personal, but.... Did you ever have dysmenorrhea and if you had pregnancies, did you have issues with labor and delivery, and also how do you do with general anesthesia? Have you had any issues with drug intolerances, and which ones? If that is too personal, I understand. Thanks.

There is a trial
 

going on using Vit C in CMT patients... I'd ask your neuro about it.

http://lpi.oregonstate.edu/ss06/charcotmarietooth.html

and this older one:

Hi Cyclelops,

I must have had brain fog as I know that it is an orthotist. But some days a person can't think straight. Sorry for that.

I do know that some people who get AFO's do not have a problem at all but others do and have to go and get them tweaked. And, there is a breaking in period so to speak. I have no idea what will happen when the time comes for me. However, I do know it will be a big difference and of course my gait will be corrected as well as lots of other spots.

There is DNA blood testing thru http://www.athenadiagnostics.com They do have help available for the cost as well as I believe the MDA does too. And, of course a person's insurance might help out depending on what type of coverage you have. I'm sure you are aware of all of this. And, I know that if you have to be tested for all it will cost lots.

Dr. Shy, from Wayne State University, told our group last fall that they have testing for 10, there are 33 genes discovered for CMT and there are 44 that are not discovered as yet. He is an expert on CMT and so is his team there. A good place to go if one can make it.

I'm sure you are aware that if they should find the type of CMT that you may have that that would be what is in your family. So your children would not need testing. That could also enter into insurance problems for someone trying to obtain insurance. If a person is lucky enough to work for a large company, then they would just be accepted. This would be true for any pre-existing condition. So it can be a concern.

Again, thank you so much for your post. I do appreciate it.

Kitt:)

Hi Again,

Yes, it is too bad that there aren't more CMTers on here. It is nice, so to speak, when they do come on.

To try and answer your questions, I had no issues with labor and delivery. As far as anesthetics, you would want to stay away from Suxamethonium (Anectine). It is a muscle relaxant and it causes the release of potassium icons (K+) from the muscle tissues into the blood. With normal people this doesn't really bother. But a person with a NMD may normally leak K+ so then it would be a further increase in those levels. This could lead to abnormal heart rhythums. There is a test that can be done preoperative to check the K+. Most of us CMTers are pretty relaxed anyway so no need for that type of drug. And there are lots of others out there now.

You would not want a spinal or epidural either, especially with CMT Type 1's as you could have enlarged nerves and it would be harder to get the needle in the right spot. Your anesthesiologist should be aware of this. These enlarged nerves are called "onion bulbs".

I've only had an issue with a sulpha drug. Otherwise, I have not had any trouble but then I do not take any medication unless I absolutely have to. Most of the time I just live with pain. At some point, that certainly could change. But, no issues there.

I should mention that CMT symptoms can come on when you are young, old, or in-between. Or they may never be that evident but yet the person can pass CMT on. Symptoms vary greatly even within the same family. It comes from my Mom's side. I had my children long before there were any evident symptoms (of course there were no gene tests then and so didn't know that I had inherited it either). Mine showed up much later in life. My Mom had her children long before her symptoms were evident and the same with her father. My Mom's brother's symptoms were there when he was 11. So there is just no way of telling how a person will end up at all. And we have to remember that there are many types out there but the Type 1's and 2's usually have that 50/50% chance for "each" child to inherit.

By the way, with the exception of Type 1X, which is inherited through the X Chromosome, CMT Type 1 is inherited in an autosomal dominant pattern. Type 2 represents axonal forms that are dominantly inherited and they make up about 1/3 of all dominant CMT cases.

Hope this helps some and as I say, you seem very knowledgeable and probably know a lot of this anyway. Thank you again. I do appreciate it.

Kitt:)

Hi,

A person with CMT should never take a mega dose of Vitamin C. Some do thinking that it will help them.

There are three High Dose Ascorbic Acid trials going on in the United States. They are at Wayne State University, Detroit, MI, University of Rochester, Rochester, NY, and Johns Hopkins University, Baltimore, MD

There was/is strict criteria for these trials. For example, you could not have been taking very large doses of Vitamin C for a year or more, you had to be confirmed as type 1A as that is what these trials are for. And there is much more criteria as well. Some patients were/are being given a placebo and the others the Vitamin C. They do not know what they are getting.

I have heard that in other places, the patients seemed to stay where they were with their symptoms but as soon as they were off the doses, they went back to like you hadn't taken it at all. Others didn't do the same.

At any rate, it would be nice to find a cure/treatment but it appears to be a long way off. Dr. Shy did mention perhaps in 10 years I believe. At least our children/grandchildren might benefit one day. But, CMT is so very complicated. Thankfully though, there is much research of all kinds being done.

Thank you for your information.

Kitt:)

Hi. I don't have much to add just a hello and welcome to the boards.

I read up on the Wayne State program, and am aware of the Athena Labs.

I do know my issues are axonal, at least that is what my nerve biopsy indicates, so it seems like I would fall into CMT 2, but, I don't know...I look at CMT 1 and at times feel like I fit more in that category.

I had spinals for 3 C-sections...the general didn't work on my first one! I had uterine atony...water broke but no labor....then they induced and after 12 hours, no progression...back then when you had one section, any more were done as sections. I also had horrible dysmenorrhea as a young woman and no real pathology. One daughter has it but now we know NSAIDS work, so she has those. I had RLS as a kid, and one daughter, my sister and one cousin do too. My dad and his 3 brothers and dad all died between ages 43-68, and one family of 3 brothers, all second cousins died between 40-50 from sudden cardiacs. Something is going on in one branch of the family tree. I haven't been in touch with many cousins, and hereditary disease is not a topic that my extended family seems to want to approach. I do know one cousin had a child with hip dysplasia, which is occurs with CMT.

I can't take any SSRIs, any antidopimergics, any anticholinergics...it has been hideous trying to knock me out or sedate me. I had a uterine ablation in 2003, and they used a general, before I knew I had neuropathy, and I felt so bad, I went back and told them I thought I had a stroke....I swear I never recovered after that procedure! I had a total bottom out of my blood pressure and heart rate post op and they had to use meds to speed up my heart and raise my blood pressure...this was as they were walking me out of day surgery after I told them I was sick! They had more people in there it was almost a code. I wish medical professionals (and I am one) would listen when people say, 'I'm sick---don't take out that IV'. Boy, I never saw so many white faced nurses after 5 tries and still no IV back in...after I told them...don't pull it....leave me here...I am too sick to go home! BP was 70/40 and pulse was 40.

A year later I had PN diagnosed. It was diagnosed as sensory and autonomic...I just had a muscle biopsy that indictes myopathy as well...so it must also be motor, in my way of thinking? So if it is a CMT it encompasses all three kinds. It seems that autonomic forms of CMT are only recently being recognized. They may have always been there. Who knows. I know some groups of Scandinavians have higher rates of CMT and I am prehistorically northcentral Swedish on one branch.

Medication has been a huge issue for me.

I did tell my docs about Athena labs and the Wayne State program...I go to a research center which has done just about every test available except the genetic ones.....they are looking at how best to deal with the gene issues now. I have to pay some money towards my orthotics and when this is taken care of, then I can take on the share I will likely pay for Athena Labs. I guess the most you pay is 20% out of pocket if insurance won't cover? There is no need to repeat all the testing, biopsies, EMG etc, but Wayne State could use my info. I have a well document genealogy and a large cohort here that if it is an identified CMT, it would be of interest to them. Plus we are in the midwest, not far away.

I would like to know what I have, so my kids know before they have kids. A few of them are not reliably employed with stable insurance, and until every one is employed, I am not pushing them to get the diagnosis...one has definte symptoms similar to mine but far less severe, and the other has scoliosis among other neuro issues. A third one has neuro issues too, and some odd ones, like I have. One seems unaffected, at this time, but she crawled on the back of her wrists as a baby! Not on the palms, but the back of her wrists. I had her evaled for CP, never thinking it was CMT. She is in her mid 20's now and seemingly very healthy.

Thanks for the info and the support. Also it seems to me, that CMT is actually hereditary PN and visa versa....there seem to be several diagnoses for the same disease??

I am taking a general vitamin and sublingual B-12. I usually take calcium but my dog ate my viactiv! He is OK (dumb dog eats anything and survives). I suppose I should take magnesium as right now, I can't eat leafy greens. I am having esophageal issues which could be related to PN or a totally separate problem. My Vit. D level is normal.

Hi,

20% sounds about right that you would have to pay at Athena Diagnostics. Hopefully, if/when you get to the DNA blood testing, they can find out if you do indeed have CMT, one which they can test for.

This has been a long row to hoe for you. So many things going on. And there sure seems to be trouble somewhere in the branch of the family dying early with cardiac problems.

I wish you well and hope that you can get some answers to your questions. It would also shed some light for your children. Again, thanks so very much for your reply.

Kitt:)