Living in hell


I have been living in hell since two years. Within these years, my EM has become severe. I now have constant red, hot, swollen, burning and stinging feet and lower legs. The EM now involves my hands and ears as well, and sometimes, i even get attacks in the face. The condition in the feet has become unbearable. i cannot understand how things could have turned out so bad in just two years.
Rather pretty quickly after I had experiences my first obvious attacks in 2012 I diagnosed myself with erythromelalgia. Yet,mit should take another year before the diagnosis was official although i always talked about my suspicion with rheumatologists, neurologist and dermatologists - apparently, they did not know EM at all. Thats why a very important observation of mine was dismissed, namely the sudden and complete recovery from EM attacks as well as paresthesia during iv heparin infusion in hospital (i have another rare and severe disease from birth).
I am convinced that if i was allowed to start daily heparin injections that time I wouldnt be in the same place than now.
Anyway…since 2013, i have been experiencing recurrent bouts of skin lesions that cannot be diagnosed despite Four skin biopsies. They just know there is increased mucin deposition, hence an immunological phenonomon.
During these attacks the EM is particularly bad and progresses.
Since 2013 ihave also been developing a small fiber neuropathy which is severe by now. In my opinion the nerve damage is rather secondary to severely disturbed microcirculation/EM , on the background of a genetically determined nerve vulnerability (see below)

Unfortunately, we have no EM specialist in Germany. My other are disease was diagnosed abroad as there are no experts in this discipline as well. Health care in Germany is good when it comes to ordinary, civilatory diseases - in fact our health system rather “recompense” patients with civilatory disease for their own misbehaviour. People with rare, multisystemical diseases are neglected are and probably less taken care of than in other European countries.
I wrote an e-mail to a Norwegian EM expert (whose name may be known here in the group, I gues) , Dr. Kvernebo , and he honestly told me that i had a very severe case of EM and that it looked like the skin was already irreversibly damaged.

The German doctors did not even try to find out the cause of my issues after the official diagnosis of EM had been made. What I know by now has been mostly unrevealed by my research, with the help of some cooperative young docs with no knowledge about EM or associatef conditions:

  • unexplained hypercoagulability/thrombophilia and platelet hyperaggregation
  • blood panel alterations such as thrombocytosis , elevated EPO in the absence of anemia (despite severe iron deficiency) suggesting EPO overproduction. i had to push for a bone marrow biopsy which did not reveal signs of a primary bone marrow disease
  • immunological phenomena (mucin skin lesions, elevated cellular immunity)ä
  • i have a are mutation in the SCN9a gene that is NOT known to be associated with hereditary EM, but seems to represent a risk factor for developing EM and small fiber neuropathy

The classical systemic rheumatological diseases such as lupus, scleroderma have been ruled out. If you have a disease that does not fit into the norm you are in trouble. Thats an experience i already had to make with my first rare disease which was diagnosed only after 22 years of suffrance and having received countless misdiagnoses that could have been fatal.

actually, there is only one possible known explanation for my issues left : paraneopalstic syndrome. This would explain the hypercoagulability, unspecific immune response, and EM as well as blood panel alterations (which can be interpreted a a masked secondary erythrocytosis caused by tumor-driven EPO production.
Since 2014 there have been some changes in the liver (left liver hypertrophy with dilated left hepatic arteries) which are undiagnosed so far as well.
Recently, i have had some tumor markers determined and there were some abnormalities: the AFP, the NSE and the CgA were slightly higher, the AFP being the most abnormal.
Together with the high EPO i am wondering about a liver tumor as a possible cause for my issues (on the background of bad genetics)…

If anyone would like to comment or ask anything, please feel welcomed to do so.
I have been used to handle a great deal of pain since infancy but the pain levels due to the EM pain, together with the pain due to small fiber neuropathy and the pain produced by the skin lesions, is unbearable. Not forgetting that this is still only one symptom complex of my very complex clinical picture. If anyone had a similar degree of severity (i will try to post some pictures of my feet) and still got better, i would be very grateful to know his/her story.

I cannot leave the house any more without being in severe on top pain, and i have to be in wheelchair. Even at home, i can barely move around, and I need help with my personal hygiene. I am so embarrased by this, as I am more and more relying on help for fundamental things. I am very angry at the same time cause this issue has stolen the last tiny remnants of life that I wrested from my life with a rare ans severe digestive disease .
One of the worst part with this disease is the lack of understanding by the family , the professionals etc …the severity of pain cannot be conveyed to normal people…you always have to justify yourself, and people think you are crazy if you ask for something to cool your feet, even in the hospital.

Thanks so much for listening. And sorry for my English.
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Hope this works out…
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Another one…
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Dear Pelztier,

After not seeing you for a while , I am so terribly sorry to hear that you are in so much discomfort and distress- bless you.. Unfortunately, some of us have rare, polysystemic conditions with no obvious underlying cause . In terms EM, I also have a carer/disabled myself ,so truly understand your emotions of anger and anguish. What I am trying to say dear friend is that you are not alone. Now you have made contact by posting in the forum the community is aware of your need for help and support.

We can not give you medical diagnoses Pelztier ,but i can tell you that many of us with co existing conditions or small fibre neuropathy etc sometimes have weird blood test readings. The many medications taken can often be the culprit ,but it is really important that you discuss these concerns with your primary care physician. Sufferers generally struggle for a diagnosis for many years- not just in Europe but internationally .

So - good news is that we have several names of Dr's in Germany who have recognised, diagnosed and treated EM .We can also give you the details of European Dr's who, like Professor Kvernebo, may be willing to discuss your concerns with you. It is important that you focus on moving forward - accessing treatment to better manage your symptoms and receiving proper care. Check your inbox for this information as will send it today.

Also on a positive note - we have several German EM sufferers whom you might like to befriend- Winni, Ben84, and Dominque.

May i ask you what medications you take. And , what do you do to minimise or cool the pain? Again, we have some information that might be useful for you.

Wow! The work of Professor Knut Kvernebo of Oslo University is well known . If you are interested - maybe you would like me to send you some further research ?

Pelztier, your English is impeccable :-) My German is terrible!.

I am so sad you are going through this -you are truly inspirational!

Sprechen morgen

Halten starken.

Große Umarmung

God bless

mads x

Thank you very much @both of you. I dont take any medication by mouth due to my intestinal disease. I only get regular ASS infusions and daily heparin injections. Generally, pain drugs do very little for me, i have to get high a disproportionally high dose of narcotics in oder to be completely sedated. Noone knows why but it is suspected that my whole central and peripheral nervous system do not react "normally".
I did go to a pain clinic but they finally were at their wit's end , too. I had nerve blocks, nerve pain drugs, electrostimulation of the skin etc

you know: I had already been through the ringer before the development of the EM and associated issues, and I am just drained and weary by the constant battle.
I have not been knowing normal life for a very long time: at least 18 years.

Thanks so much for your answers and understanding.

Dear Pelztier,

As promised mod team have sent you a list of Dr's who ,to our knowledge ,recognise, diagnose and treat EM.

Tizzy's suggestion of revisiting pain clinic is a wise move - one maybe you would consider. Medicine moves on and, whilst no known cure, there are many treatments that possibly you have not tried or taken. I know you have the problem of not being able to ingest tablets but several newer treatments are out there. For example, our own dearest Tizzy has just had subcutaneous ketamine in Australia. I know in Europe that this is available as IV and as topical compound cream. Subcutaneous and IV lidocaine, Iloprost infusions are also given but this is something you must see a specialist or pain clinic to discuss. Mod team have sent you some information about this. One thing we do advise is that you prepare an arsenal of evidence; take plenty of photos, keep a pain/symptom diary and , print off the information . Take all of this to all consultations. Sometimes we need to 'educate'the specialist as to what treatments are being tried, what symptoms we suffer etc.. ;)

Many of us find that apart from a polypharmacy approach in terms of medicine, we need to change our lifestyle (e.g. diet, clothing etc..) , use cooling tactics (e.g. lidocaine gel, fans ) ,and minimise known triggers - heat, fatigue, stress, exertion/pressure .Sadly, the management of EM is trial and error but many of us do ultimately better manage our condition..

Moderator team (myself, Tizzy, Alina , Nel) will send you all the information we can , and the EM community are here to offer you friendship and support - we all understand.

Halten starken! ( isnt förbli starkt Swedish lol!)

God bless


Dear Peltzier, I really don’t think I can add to what Tizzy and mads have already said except to say that I am sorry you are in so much pain and feeling so abandoned by those nearest to you as well as the medical profession. Unfortunately both our families and our doctors often react with apparent disinterest or even a degree of aggression just because we all find it difficult to deal with things for which we can see no possible explanation. We want to help but have no idea how to, and so people ‘cross to the other side of the road’ rather than admit their helplessness.
I hope you know that here we understand your pain and grief and will offer all the support we can.
Your English is excellent so I won’t try my poor German! Just sending you all best wishes.

I am so sorry for your pain and discouragement, Peltzier. I don't have anything to add to the helpful things that others have shared, but I have much compassion for you.

Hi Pelztier

Any updates on your condition?

I am so curious

Hope your better these days