Michelle

Angel....

Wow, Thanks for all that info.  I did have the genetic testing done thru the MDA and it came back as CMT1.

NOw my question is can one have all 3? CMT, HNPP and Fibro? ALtho they tell you that everyone's symptoms and degree

of how mucht he disease affects each person can differ from person to person, and even within the same family,

they dont LISTEN to you if your symptoms arent like others that they have treated.  Especially when it pretains to

pain.  

And that is one of the main reasons I wanted to know if they can exasperate each other and make each of them worse for

the person with both?

Every time I have to go in and tell them that I feel worse, the Neuro thinks it's the Fibro and the Rhuemy thinks it's the

CMT....and I get no where and still ahve the pain, and end up paying 2 copays!!!!  I am soooo over all this bull crap

with doctors being afraid to take it by the balls (excuse me) and say it is one or the other and do something about it.

I have been on Lyrica which did NOTHING for either....and am on Darvocets...which did help alot for years, now it isnt so much

and I'm afraid with all the crap out there about Acetaphetamine, and darvocets, they will take me off of them....and I will have NO RELIEF.   I go in on this thursday to the Rhuemy....(he's the one that gives me the darvos) and I dont know if I will

tell him that they baarely work?

29 months ago

Jennifer

What is CMT?

30 months ago

Michelle

Charcot Marie Tooth....it falls under Muscular Dstrophy but in reality it's more like MS cause the coating of your nerves wears

and then your muscles go bad, and the messages from your brain to whatever gets lost cause there's A "dead" area.

I wanted to know if anyone else has it, because i think they make each other worse but cant find anything on it

30 months ago

Angel

Michelle, my mother has something very much like CMT. As a matter of fact she was initially diagnosed as having CMT until she demanded the genetic test for it ($11,000 before insurance, btw. Only Athena labs in... Massachusetts? does it) for confirmation. My mother was diagnosed with FM years ago however when she had an EMG done about five years ago it was discovered she had demyelination of the nerve sheath. Her Neuro said CMT. And said it for five years. But when her symptoms started to worsen in some ways and she still had some normal readings in other areas(reflexes).... the Doc was forced to consider other possibilities. CMT is pretty broad. Like Muscular Dystrophy is broad. There are all sorts of subdivisions and related disorders which present themselves very similarly.

My first question naturally has to be: have you had genetic testing done or just the EMG? Because from what I understand both CMT and HNPP both have to be verified by genetic testing legally in order for the diagnosis to truly stand up in court.

The reason why this genetic testing is so important is because there are dozens of varieties/subcategories of CMT and one variation of an illness which presents VERY much like CMT is HNPP(Hereditary Neuropathy with liabilities for Pressure Palsies), which is what my mother really has. It's demyelination but with a weird quirk in the mechanism of the nerve.

Case in point: My mother was told for five years that she needed to do the most aerobic exercise she could stand so that her nerves would attempt to regrow or at least keep the connections they already had active and alive as well as keep her muscle tone. But with a diagnosis of HNPP this is incorrect. She would in fact be harming herself. So it is vital to be 100% certain of what variety of genetic disorder you have.

My mother has stated countless times that she is finding it more and more difficult to differentiate between her FM symptoms and those of HNPP. I think that the key here is to find the happy medium for both conditions- find what movement level you can tolerate and is appropriate for both.

30 months ago

Jennifer

I read everything you both wrote here and also read some information online and it sounds like a lot of people with FM could have this or that they have been misdiagnosed w/ FM.

29 months ago

Angel

Gosh darn it! WeAre techs are messing with the posting order of threads again.

To answer Michelle: CMT1 is the most common. HNPP and CMT are
exclusive of one another from what I understand. The only way to rule
out which one you don't have is to test for it. A pain in the ass, I
know. The doctor has to order that specific type of CMT testing to be
done to look for genetic markers. Athena only tests for what the doctor
orders. And there are several different varieties of CMT. All sorts of
subcategories. Here are a few bolded links which may help:

Charicteristics and symptoms list
of CMT. Pay close attention to the pain/numbness factor here. It
changes with age and type of CMT. My Mother still has all of her
reflexes intact however she has numbness in her hands to such a degree
she can practically take a dish out of the stove with bare hands.
Pretty scary. But again- she does not have CMT. They just thought she
did for the first five years. She has HNPP which is a weird rare cousin
of CMT. So she has certain symptoms of CMT(numbness) but not
others(lack of reflex). This is why genetic testing is so vital and
it's important to be aware of what subcategory you really have.

Here is a link to the list of types of CMT. 

How genetics play a role with your children.

Here is a link to the Medical Alert list of harmful medications for those with CMT.

Your neuro is automatically going to concentrate on the CMT and your
rheumy is automatically going to think it's your FM acting up. They're
not both wrong, it's just that a lot of the symptoms can overlap. Don't
worry. You're not crazy. They aren't either. But you do need both
doctors to help you with both conditions. If you don't monitor your CMT
then you are depriving yourself of a lot of assistance down the road,
and a lot of possible pain relief. A lot of CMT patients need hand and
foot surgeries as the years pass because of the 'drop' in the
metacarpals and metatarsals which cause weakness in the tendons,
causing injuries and horrible pain even before injuries occur. Let me
put this in perspective a different way: When my Aunt needed surgery on
her feet the Podiatrist refused to touch her until she had the genetic
testing done for CMT. The reason is that the Ped would perform the
surgery a certain way on a Normal patient versus a CMT patient. If the
Ped doesn't have all the info they need they could do you a lot of
damage instead of a lot of good. Save yourself the pain. Keep your
Neuro. You're going to need him. Even if you disagree with him.

You and I both know that until scientists are able to perform gene
therapy on you that CMT isn't curable. It is a progressive disease. All
you can do is manage it and take care of yourself. Having said all that
I do believe that the FM is treatable. I think everyone and their
sister here knows that I advocate(and am on) the guaifenesin protocol
by Dr. St. Amand. I'm not going to write a book about it here. So I'll
leave you with this direct link
to his site and the offer to talk about it further with you through
private messages if you wish. I even started a community here on WeAre
to give information to anyone who is ready for it, in an easier format.
It's simply called the Guai Community. 

To Jennifer: eh... not  neccessarily. CMT isn't rare but then again
most of us FM'ers are referred to Neuros in order to rule out these
types of neuropathic disorders. If your EMG was negative then you've
got nothing to worry about. No CMT!

HNPP is ten times more rare than CMT. Which is why only genetic
testing can differentiate between the two. My mother and one of her
sisters has HNPP. When I was diagnosed with FM my mother demanded that
I look into genetic testing to rule out HNPP. Now I have two closely
related family members who have HNPP but my EMG testing came up
negative for demyelination and my genetic testing for CMT and HNPP were
both negative. Genetic disorders like this can skip generations. So I
have to be super careful when I consider whether or not to have
children. I don't have it but my kids most certainly could.

So my Mom and my Aunt have HNPP. Both have FM. I do not have HNPP but I do have FM. .... did you get all that? lol 

 I don't think this is a case of being misdiagnosed. I think it
depends on whether or not someone has had all the physical testing they
need.

So I guess this is where I need to start a thread screaming: DEMAND
AN EMG FROM YOUR DOCTOR in order to rule out neuropathies during the
diagnosis phase for FM. Even if you have second cousins or great great
grandparents who have/had muscular distrophy this puts you at a greater
risk. And yes, all sorts of disorders can overlap with their symptoms.

There is no such thing as too many tests when it comes to diagnosing
FM. In my mind, the more testing we do on ourselves the more help we
are giving to scientists who are working on the illness. THink about
it- if we've already ruled out this, this, this, this, and this then
when they look at our records they already have a great deal of the
work done for them. That saves time. Because we do need more answers
about this illness, NOW!

Sorry for being so verbose.

29 months ago