Progression of Symptoms

General
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Hi Karen,

The studies are being done on inhereditary EM because it was the first disease in humans where a specific genetic mutation can be shown to cause pain. That makes the people with EM due to this genetic mutation excellent guinea-pigs for the new drugs, which would work for all kinds of nerve pain including other forms of EM. That doesn't mean that they are not paying attention to the other forms of EM, far from it. They are continuing to search for the reason behind the other forms. This is being done in many places, such as Dr Waxman's team at Yale.

karenatl said:

I had a rhuematoglogist tell me the same thing 7 yrs ago. that was after he agreed with my self diagnosis after many tests to try to rule EM out. He told me. :You are on your own. There is nothing I can do for you. Try going to a learning hospital where they have younger doctors studying rare diseases." That is when I decided to use natural, alternitive medicines & doctors instead.

Sometimes I can stop it from getting worse when I feel a flare coming on like by cooling them down right away. Other times no matter what I do can't stop it from getting full blown out excruciating.

I was always thinking that it's not fair that the studies seem to be for those who have Hereditary EM. What about the rest of us?

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kruizerchick,

Just because you don't have the genetic mutation in the SCN9A gene doesn't mean that it isn't primary EM. You are not necessarily going to get something else. Hope that helps :)

kruizerchick said:

I've been reading a lot also since my diagnosis last December.

My takeaway is this: If it's not genetic, then it's a secondary symptom. However, being able to diagnose the underlying condition takes an AVERAGE of 2 1/2 years due to the primary condition not fully manifesting itself in a way that can be diagnosed easily.

My husband was diagnosed with Rheumatoid Arthritis in 2009. It seemed to come on suddenly, but as we learned more about RA, we could look back and see hints and indicators of what was coming. I suspect the primary conditions associated with secondary EM act the same way... you occasionally experience something odd, but write it off to another event going on in your life and when it fully manifests, you will be able to look back and have that "aha moment" recognizing all of the past signs.

I go back for my first follow up with my dermatologist tomorrow. Since he first diagnosed me three months ago, the EM has progressed and I will have lots to report to him. Hopefully, he'll have something to give back to me too!

One other comment... I read the posts regarding menopause with interest as I'm suddenly having some odd female issues. While I'm only 45 and my doctor says I'm too young for menopause, it's certainly become a topic of interest since I have been waking up flaring, sweating, and too hot to get any sleep. This has just happened since the weather turned warmer so I feel like it's my EM... but why am I also having other female issues at the same time.

What confuses me about all of it is that everything just came on and happened in the last year? Hello? ::: shaking head ::: Hopefully answers are coming. :)

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I think the lack of testing is down to:

1) Ignorance of the doctors involved. Most doctors don't know anything about EM, and certainly not about the two forms of it (primary and secondary).

2) Rarity of the gene. The SCN9A mutation is only in some primary EM sufferers. I am being tested on the 8th of May, I don't know when I'll get my results. I know that the chances of me having the gene are small, as none of my family have it. It appears that this mutation is only in those who developed primary EM before the age of 20 (I was seven). I am being tested in case I do have this form, as my siblings would then have to decide if they want to be tested to see if they are carriers. I am nervous, as my sister is already pregnant with my first niece or nephew. I am praying hard that he or she won't have EM.

3) Lack of a useful treatment. There are several drugs being developed that could be useful in the SCN9A form of EM, but they are all at the testing stage. The only useful result would be your suitability for drug trials. In a few years, when some of these drugs come onto the market, it may be that testing would be useful.

Right now, the only real reasons to be tested would be to partake in a scientific study or if you or a sibling is planning a family and you need to know the chances of passing it on. The studies going on into EM around the world may well tell us the mutations that cause other forms of EM. They think that other forms are much more complex than the SCN9A form, that a person has to have several mutations to develop EM rather than just the one.

Hope that helps!

mbaGG said:

Thank you everyone for your comments and empathy. I'm wondering why we are not being tested for this gene. Wouldn't a geneticist do that kind of work? Seems to me there should be some pretty good geneticists in this country. But even if we find we have the gene, does it change the treatment?

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First of all, I agree that you should find another doctor, he obviously can't be bothered with you.

I have found that my EM (the primary, early-onset form) has varied over the years. Over the last ten years it has gradually got worse and worse. As you have no doubt seen from all the other replies, EM varies wildly from person to person. There are those who get a partial or total remission of their symptoms for a while. Some people find that their EM tails off into something that is more annoying than awful.

I think there is a little bit of confusion over the current classifications of EM. As it stands at the moment, there are two forms: Primary (AKA idiopathic) and Secondary. There as subtypes within those classifications and there are some doctors suggesting that the classifications be changed but this hasn't happened. The two classifications are simply stating whether the EM is as a result of another disease (secondary) or occured on its own (primary). I have primary EM, although I do have other health problems but my EM is not a result of those.

Primary EM does not have to be inherited. There has been a lot of confusion on this issue recently, due to the studies on the SCN9A mutation which is the inherited EM form. Primary EM can also occur at any age, but the early-onset subtype always occurs before the age of 20. It is this subtype which contains IEM. Just because primary EM started before the age of 20 does not mean that it is IEM. Primary EM is generally due to a problem in the signalling of pain in the brain and the response of the system controlling bloodflow. It is possible to have the SCN9A form if your parents don't have it, but it is very rare, it would have to be a spontanous mutation.

Within secondary EM, there is a sub-set who have the thrombocytic form, which sometimes responds to aspirin. The aspirin is helping the EM by making the blood less "sticky", by reducing the hormone that makes the platelets in your blood (the cells that make bloodclots) stick together. This sticky blood affects the bloodflow which causes the EM. This can be due to different problems with the blood but is always secondary EM.

Other forms of secondary EM include those who have it due to Raynaud's disease and those who have EM as a result of MS.

Hormones are known to affect EM. Even my pain specialist (who tells me to "get out more") acknowledges that hormones affect the bloodflow so obviously they'll affect the EM! As healthy women get hot flushes at the time of the menopause there is obviously a powerful effect.

I hope that helps, I will no doubt have to post again, having realised that I didn't put something in. I often think that all the blood that is being used in my flares is taken away from my brain!

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As predicted, I found that in my earlier post I referred to "inheriditary EM". I hope everyone understands what I was trying to say :)

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Starsmurf... great information. Thanks.