I didn’t march in there and say hey look at my wbc or even say, hey I have lupus. This woman went wild on me for being referred to her, was my point.
Love that graphic earlier. That is so very true. It wasn’t until a variety of specialists started talking to each other instead of treating it as one thing that they sorted out what was causing my EM. A phrase often used is “Think outside the box”. Unfortunately in the medical world this doesn’t happen very much. I am from a scientific background and if we didn’t do that new things would have never been discovered.
1 Like
BNashville,
I think you just have to accept that in the absence of scientific proof there is going to be doubt. It’s logical to doubt without proof. I have doubt even though my doctor is fairly certain I have Erythromelalgia. He believes I have it because I responded to a sodium channel blocker. I know I say this often, but a sodium channel blocker is the only class of drug ever tested by a pharmaceutical company for the treatment of Erythromelalgia. Pfizer conducted a phase 2 clinical trial within the past few years on a selective sodium channel blocker. That is because:
Mutation in Nav1.7 (sodium channel ion) may result in primary erythromelalgia (PE), an autosomal dominant, inherited disorder which is characterized by attacks or episodes of symmetrical burning pain of the feet, lower legs, and sometimes hands, elevated skin temperature of affected areas, and reddened extremities. The mutation causes excessive channel activity which suggests that Nav1.7 sets the gain on pain signaling in humans. It was observed that a missense mutation in the SCN9A gene affected conserved residues in the pore-forming α subunit of the Nav1.7 channel. Many studies have found a dozen SCN9A mutations in multiple families as causing erythromelagia. All of the observed erythromelalgia mutations that are observed are missense mutations that change important and highly conserved amino acid residues of the Nav1.7 protein. The majority of mutations that cause PE are located in cytoplasmic linkers of the Nav1.7 channel, however some mutations are present in transmembrane domains of the channel. The PE mutations cause a hyperpolarizing shift in the voltage dependence of channel activation, which allows the channel to be activated by smaller than normal depolarizations, thus enhancing the activity of Nav1.7. Moreover, the majority of the PE mutations also slow deactivation, thus keeping the channel open longer once it is activated.
Nav1.7: Clinical significance in Primary Erythromelalgia
I think it’s important to remember that “secondary Erythromelalgia” has no known identifiable cause, which leaves open the possibility that it doesn’t exist and is merely a constellation of symptoms from various other diseases that are being misidentified.
2 Likes
Hi EM friend: I have had EM for 11 yrs. and was diagnosed at Stanford 10 yrs.
ago. I have flare ups during the day and they are worse at night. I wake up at 3 or 4 a.m. and have to soak my feet in ice water for 10 min and then cannot fall back asleep. I’ve had plenty of “pity parties”. Went thru a good 2 yrs. with neuro-stimulator implant, but it has come back with a vengance and now nothing seems to help. As to your doctors not agreeing with each others diagnosis, I found that many doctors had not even heard of EM. Good luck to you. Patty
My name is Martin Kelly. I am 49 years old. I am from Ireland, but I have been living in Saigon(HCMC) for the past 6 years. I am not too sure what medical condition I have, but it seems like EM. I developed this condition six months ago. Previous to developing these symptoms I was very active in sport…running, swimming and gym. Two months before the EM symptoms occurred, I believe I overdone it with exercise at the gym and done something to my intercostal muscle. I felt pain in my rib two or three days after the injury and it has stayed with me to varying degrees to this day, depending on the activity. Today even a gentle walk for 500 metres aggravates my rib pain and brings on what I assume to be EM symptoms. About a month after this intercostal injury I noticed that my hands started to flush. Initially, they would flush red(on and off) for four or five days and then disappear for another few days. At this point it did not really concern me, but it seemed to get progressively worse as the months passed. Now, I maybe get one or two days per week without the flushing, the rest of the time my hands flush intermittently. When I get up in the morning it seems like I have no symptom, only to flare up when I get out of bed.
It is extremely hot here in Saigon. No doubt the heat has a significant impact on this condition. When I go out in the ‘midday’ sun, I usually have a flare up…tingly heat on my hands and feet; although my feet only occasionally go red. When I hold my hands up, the redness disappears quickly, only to return when I lower them. Lately, I have not been doing any activity, besides popping to the local store on my Vespa. It is really frustrating trying to figure out this condition. I have been to several western doctors, here in Saigon, and they are clueless. They say: andropause, food allergy, heat reaction…it goes on and on. My symptoms are not as severe as some of the brave people on this forum, but nonetheless they are debilitating psychologically, as I don’t know how this will progress. I would be grateful for any advice.
What you describe does sound like EM. However, I wouldn’t have thought that what you did to your intercostal muscle had anything to do with it. Maybe just coincidence that it started soon after that.
I am sure you will have seen on here how difficult it is to get a diagnosis of EM as a lot of doctors have never even heard of it. I took along my iPad to a consultation and showed the consultant what was on here and he accepted that it sounded very much like EM, even though he was one that had never heard of it. I am in the UK in Cornwall.
One thing I must stress is that it won’t necessarily go any worse everybody seems different so please don’t worry too much about the future.
1 Like
Hi Carolyn, Thanks for the encouraging advice about Lyrica. My hematologist actually wants me to try Lyrica next, but he wants me to wait until after I see a neurologist next week to be tested for neuropathy. I am excited about trying Lyrica, knowing that it helps you. Blessings to you!
1 Like
@BNashville Mayo Clinic have even said you may flare without much redness.
2 Likes
Thank you. Cheers,cTerri
I experienced much of what you mentioned…all the doctors agree its something but no one can seem to come up with a treatment. Some doctors simply refuse the diagnosis of EM. I have found that if I sleep cross wise in my bed with my feet out in mid air with absolutely nothing touching them it is very helpful. Hope this might help if you are having trouble sleeping which for me is the worst time.
I have been told not to use ice water as it can damage the skin without a person realizing it. What I have found is if I take some of the ceramic tiles left from kitchen floor and place one square wherever I am sitting it keeps my feet cool enough that there is some relief. I have also found that when sleeping if my feet hang over the bed with absolutely nothing touching them my sleep time improves. Hope this helps a little. I use to have flare ups but since having hip surg the problem in both feet is constant. The doctors say one has nothing to do with the other so my question to them is obvious but I never really get a helpful answer. Have you ever tried any type of pain killer. I just reviewed a video from Mayo and it sounded promising.
It’s correct not to use ice water. You obviously find the ceramic tiles work well. I used to walk on my kitchen floor which has ceramic tiles. Another option is to get ice packs wrap them in a towel and put your feet on them.
1 Like
Thank you for your suggestion. I have been fighting this condtion for
years and just now finding I am not alone in the battle. Sometimes I think
I am going crazy because for months it is constant then like now it stops
and my feet are as normal as can be with nothing that I can see that has
changed in my life. Try going to a doctor and explain that just a few days
ago your feet were purpose and on fire. I have been trying to find someone
that has tried Mayo Clinic but I am not that acquainted on how to get
around in the Chat room so if someone as mentioned an experience I missed
it. I am just about to think it is a way of life and nothing can be done.
Each person just has to find their own way with it and learn to live with
it. I found that researching was taking up all my time and I do not want
it to become JUST the way I live. I am not sure I am explaining myself
like I mean it. Thanks for any thoughts you might want to share with me.
Sharon
There is a topic anybody who can recommend a doctor to go to I am not sure if anybody mentions Mayo Clinic. I am in the UK so it wouldn’t be relevant to me.
If you do find someone to see can I suggest that you take along your mobile phone and show them this group. That was the only way I got anybody to take notice of me.
I also know what you mean it shouldn’t be overtaking your life think of things you can do that take your mind off it.
Good luck
Sheltielife