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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