Early this week I had another neuro appt. He read the tests I had taken from the previous visit and basically it boils down to to nothing autoimmune is causing my pn (thankfully). But...there seems to be not much else he can do for me. The upped Lyrica dosage (450 mg/day), metanx and anodyne therapy have me much more comfortable now since I have not had any burning for several weeks. I wonder how much of that is coincidence since for the past several weeks I have not had to be on my feet as much and now that the anodyne therapy is done if the pn will stay away or come back gradually. Anyway, to get back to the neuro visit...he did suggest that I have genetic testing done to see if my pn is caused by Charcot Marie Tooth.

Has anyone here done the genetic testing? Why does it need to be done in my home instead of at a hospital or dr office? If you had it done, was it worthwhile? I'm under the impression that even if they find a genetic reason for my pn they still will not be able to do much about it. Yes, it would be nice to have peace of mind in knowing WHY, but I'm sure my insurance won't pay--they never do--and since this test is so pricey I'm don't know if it would be worth it. Basically, neuro told me to be careful since I apparently do not feel everything I should with my feet. Is that about what y'all have been told too?

--it would have to be done in your home; most genetic testing involves blood and/or skin cell sampling to look for genetic markers, and while some firms advertise that it can be done by you yourself taking samples at home and sending them in for analysis, such samples can just as easily be taken at an office or clinic.

It is true that many insurance companies are reluctant to pay for such genetic analyses, as, even with the cureent human genome project, the current state of knowledge is that many syndromes (i.e., celiac) are caused by a combination of various genetic factors interacting with environmental triggers, so except in directly transmitted conditions (such as hemophelia or Huntington's) such testing often reveals just a gentic "propensity".

Take a look at this material on inherited neuropathies, though:

http://www.neuro.wustl.edu/neuromuscular/time/hsn.htm

http://www.neuro.wustl.edu/neuromusc...html#cmtaracro


There's a ton of info here, and a surprisingly large number of conditions linked to specific mutations.

glenntaj, thanks. I've been busy all morning looking through the links. I'm not sure why they need to come to my house to do the testing either. Maybe because it is an outside company who is not affiliated with either of the local hospitals? Has anyone else had this done like that?

I also really wonder if it will be worth it. If there is nothing else they can do for me (except tell me to be careful about my feet) then the couple of thousand bucks it will cost if insurance doesn't cover will probably be better put to use on ds college. Right now things are great with only pins and needles, minor numbness and occasional crawly sensations--no burning in the feet--please cross your fingers this will last. I do wonder what the liklihood that ds may inherit it from me if mine is genetic. Waffling is apparently my middle name. Maybe I should just do it, insurance or not.

On the genetic testing, unless it is some type of disease that would make your offspring consider not having children, or there is some type of treatment such as in familial amyloidosis (domino liver transplants-and they test for amyloid on you first-so it isn't a genetic test). What good would the testing do? I know it can alert insurance companies to 'pre-existing conditions' upon which they can deny you coverage, or even seep into your children's records as well. I was advised against that kind of genetic testing at this point in my life.

Genetic testing is a double edged sword.

Some of it is helpful, some is not.

I have idiopathic PN, and they are not going to do any genetic testing. They already told me that.

Now there is some genetic testing available on drug metabolism. They can test you for Cytochrome P450 polymorphism to see if you can't tolerate some drugs, but again, you will likely have to pay.

The things you would want to do for yourself if you have Charcot Marie Tooth are things you should do for yourself anyway:

Avoid toxins
Stretch and do range of motion exercize
Be as active as you can without overdoing
Eat very well and supplement wisely

rose

I asked my doc about Charcot Marie Tooth a while back, or the other Hereditary Sensory Neuropathies, there are 5 named and identified so far, but they are still being added, and he did EMGs and Evoked Potentials. Mine were normal, so he told me, it is highly unlikely that it was CMT.

He has been a very thorough physician. I can't think of too much he hasn't explored, including amyloidosis, which was negative. Apparently, they could not get much fat, as my fat, is inside my muscle tissue, which is going to be an aging issue I have to deal with. As we age, all of us, get more fat in our muscle tissue, and fewer muscle cells....so that is why weight work is important. (And I hate weight work...I get bored.) Stretching is super important too, and now they recommend stretching your muscles after warm up.

CMT has a few good websites. A lot of info is on that neuro.wustl site...I don't have the link right off hand.

I don't know what your symptoms are, but I cross over forums for movement disorders, I have RLS among some other odd movements. And I cross over to Lyme disease, which I had diagnosed after a deer tick bite and EM rash in 1994...and I do not know what to believe regarding that disease....only that I got a whole lot sicker after the bite. (Never had IV and too late now.) I also have arthritis, disc collapses, etc... the works. (Rode hard and hung up wet)

If you suspect CMT or any neuropathy, it is good to get your posture and gait checked. I say this from experience, as I ruined my knee by running on a very pronated foot, that I didn't know was pronated...(funny thing is I had myself looked at several times, and NOOO ONE said a thing about it until I fractured my tibial plateau--then I got yelled at for a whole year---a brace, cast and coil, later it supposedly healed.) Diagosis of neuropathy was still 2 years and several hundred miles into the future, which is why the break bled thru to the skin before I knew I had a break...I mean it hurt, but not how a break should hurt...(neuropathy, ta dah).

Orthotics, properly done would have prevented that fracture. Orthotics usually last about 2 years at best. Many insurance companies pay for 2 pairs, over the 2 years. I get them both at once and keep them in my most worn shoes....except the last one, my dog ate, so I had to make due with one, and I learned. Buy a lot of dog chews. I don't have any dogs teething anymore, but that was an expensive lesson and I was confined to one pair of shoes without changing orthotics.

For good orthotics, they cast your feet, and the orthotics are usually the long ones, not ones that end at the ball of your foot, where you can get an ulcer from rubbing the edge of it. If you don't get special shoes, nursing shoes are good, and some are even cute. Having been in the field, they were lifesavers (pun intended)....running shoes are also good, but be prepared to drop $$$. I generally buy Saucony or New Balance, both upper end brand shoes have 'roll bars' an arch structure meant to help prevent hyperpronation, (don't own stock-not affiliated) but it is personal choice....I really like Saucony Trigons...with my orthotic inside. You do not want a squishy shoe, even tho they feel good. They last about 3-4 months and then you need new shoes, depending on how much you walk....if you don't do much, then longer. You might need a special shoe or braced set up. I am sure you will get to know a good physical therapist...a good one will be interested in working with you...a bad one, will be rushed, not spend time analyzing your range of motion. You may get a referral to an orthotist, who makes special braces, that is usually covered by insurance too. I think I am on the verge of a brace set up on my right leg, and I do not have CMT, just plain old PN of the sensory and autonomic variety...cause a mystery, yet to be determined.

Needless to say, I don't run anymore, at least not at this point...sitting is uncomfortable until they figure out my 'assinine' problem if you get my drift.

I agree with the above poster, as to what you can do for yourself. Good advice.

Research CMT and see if you think genetic testing is worth it....I think most people with CMT, still have progeny, and I would not let CMT keep me from having kids or having my kids, from having kids.

Until they come up with gene therapy or specific therapy, a genetic red flag on your medical records is probably not the way to go unless you have some compelling reason to have that diagnosis and they can not make it clinically by looking at your test results and physical exam.

I have a very straightforward list posted on www.lizajane.org, where I made all the charts for the diagnosis of neuropathy. Please take a look.

I've put my own genetic testing on the site, so you can look at what a personal chart of your testing might show:



http://www.lizajane.org/PN/Users/liz...y%20workup.xls

If you compare the page for genetic tests with my personal chart, you will see that I've had all the genetic tests which apply to me, a person with a sensory axonal neuropathy. I did not, for instance, get testing for motor neuropathies. I think this is a user friendly tool, and many of us bring these charts to their doctors and request tests on them. No one has yet been told NO, and most doctors have been pleased with this.

I have ALL my labs on charts, as I get lots of blood tests for various reasons, and my doctors always are pleased to have me walk in with the latest results from another doctor.

Here's what I bring my docs; remember, I'm able to do this ONLY because I ask every doctor to give me a copy of my labs before I leave, or fax me a copy if they receive them when I'm home.

http://www.lizajane.org/PN/Users/liz...e%209,2007.xls

I hope this helps.

Please be sure to look at this last chart, and check out all pages, and scroll from total left to right. This shows just how much can be in one file and cover your entire life's worth of dealing with health.

Here is another reference for you regarding genetic testing. This is a good site for almost every possible neuro disease. It is revised as diseases are added. Technical. You can use the links going back and forth as you delve thru all the info.

http://www.neuro.wustl.edu/NEUROMUSC...msn.html#cmt4f