Saturday, April 21, 2012
There is a LOT of information on Familial Mediterranean Fever on this blog. It begins with Nancy's PERSONAL EXPERIENCES with FMF and continues with descriptions of the disease, the symptoms of the disease, how it works and medical documentation from a variety of sources. I am not a doctor and I can not diagnose nor prescribe. I am a patient with FMF and a patient advocate. IF you need personal help you can reach me via e-mail at: firstname.lastname@example.org Here is my story with Familial Mediterranean Fever: I think that by telling you my story with Familial Mediterranean Fever, it may help you see that this disease is easily mis-diagosed as everything under the sun. I am also including here an explanation of just HOW Familial Mediterranean Fever works: Let me tell you about my experiences with Familial Mediterranean Fever. Please note that I am not a doctor, and I can neither diagnose nor prescribe. I wanted to be a doctor but in those days girls were not encouraged to do so. I followed the traditional wisdom but continued my interest in all things scientific throughout my life. I consider myself to be a genealogist with a scientific bent. I CAN tell you about my journey to better health and how I handled this. Just about 10 years ago I was diagnosed, with a variant of Familial Mediterranean Fever. My DNA tests for this disease came back negative for all KNOWN versions of this gene mutation. At that time, I was tested for the 14 known genes As I understand it there are now over 170 mutations that can be tested for. I think I will likely not do any re-testing. The doctors believe that I have a variation of the gene, which has not yet been found and for hundreds of years the symptoms and the response to colchicine treatment have diagnosed FMF. This is called CLINICAL DIAGNOSIS. I have improved so much with that treatment . Dr. Chris Morris of Kingsport, TN, the doctor who first recognized this pattern among Melungeon descendants (and I consider myself to be a Melungeon descendant, says that a POSITIVE reaction to colchicine is a positive diagnosis of FMF for us. My own local doctor told me the same thing. (Melungeons are a fascinating group of people who are found in the southeastern United States particularly in NC/VA/KY/TN/WV. They are believed to have a Mediterranean ancestry.) Familial Mediterranean Fever has many symptoms which do not quite fit together into a pattern that physicians can see, because in the United States it is thought to be very rare. I personally think it is not that rare. I can remember attacks of high fever and pain in my lower right side occurring as early as 8 years of age when my doctor said I had appendicitis. My mother details attacks from infancy. I would have a high fever and I would have hallucinations/nightmares during the attacks. The doctor told her he thought that I had had a mild case of polio at one point, yet I had no polio after effects. I had these attacks periodically and in between I was a pretty normal child. Don't most children suffer with fevers of unknown origin from time to time? As I grew older, the symptoms seemed to change, and I began to suffer with depression in Elementary school. Of course, it wasn't called that then, but I can recognize it now. The depression has continued all my life. In my 30s I began to experience worsening depression and the beginnings of fibromyalgia. By the time I was in my 40s, I was feeling a variety of symptoms, which were continuing to worsen and to remain with me for longer time periods in between periods of well being. I had had some physical accidents and some emotional traumas by that time and so my problems were blamed on that. By my late 40s, the well periods were few and far between. It got to the point that if I awakened and felt 'good' I thought something was wrong with me! *** By this time, my doctors and many of my family thought that I was a hypochondriac because of the many and varied symptoms that I presented. I was told 'it is all in your head.' I was diagnosed previously and erroneously, it turns out, with fibromyalgia, (I had ALL the trigger points of fibro and my muscles ached so much at times that my mouth watered from the pain, like a popcorn hull between your teeth causes you to do. More on this symptom later.) I was diagnosed by blood tests with rheumatoid arthritis. I had x-rays that showed osteo-arthritis. I suffered with chronic recurrent chemical depression, sleep apnea, sleep disorder with myoclonus, and Restless Leg Syndrome, colitis, spastic colon, gallbladder inflammation, appendicitis, possible kidney stones with their concurrent problems of vomiting and diarrhea, and so many other things that I can't even remember them. I had chronic respiratory problems, chest pains, sinus infections, allergies and asthma. I had thyroid problems that bounced up and down for years starting in my early teens. *** FMF can affect the thyroid gland because this illness inflames the lining of all the body's organs. FMF also deposits a protein called amyloid and the thyroid can be involved in this. "Thyroid abnormalities were described in 19% of children with FMF and were more frequent among girls. A positive test for antithyroglobulin antibodies was found in several patients, but amyloid deposits were also found. Therefore careful examination for goiter, as well as measurement of serum thyroxine (T4), TSH, and antithyroid antibodies should be performed in all patients with FMF." I had even looked into Chronic Fatigue Syndrome as a possible cause of my problems. All of these things didn't happen at once. As I said, as a child, I was pretty normal between attacks. Then I received the fibromyalgia diagnoses and lived with that for years, but the diagnoses kept being added and they grew worse as I grew older. Sound like I was a wreck? I was, but I am beginning to improve. It is like a miracle. I came across the diagnosis of Familial Mediterranean Fever through my genealogical research. I think the number of descendants of these folks has been grossly under-estimated. Suffice it to say that I diagnosed myself, and took it to my doctor who had been treating me for 20 years. He laughed at me. Without a word, I got up from his examing table and walked out of his office. I never returned. I went to 2 other doctors where the same thing happened before finding the doctor where I was finally diagnosed. I explained that I was looking for a diagnosis of FMF and held up my hand, saying "Don't laugh, let me continue." I asked for the medicine colchicine as a trial. Dr. Henshaw said, "Oh, that is a very rare disease and I don't think you have that," I asked him if colchicine would cause me any harm if I took it for thirty days. He said, "NO." and I told him I wanted a trial prescription. He wrote me one. Two hours after I took the first dose, I knew it was going to work. At the point when I took the medicine, I could not rise from a seated position without pushing or pulling myself up with my hands. My hands, arms, and shoulders in particular were in constant pain, both in the muscles and the joints. I could not hold a coffee cup or a glass of water without using two hands, no thumbs to hold them. My thumbs and wrists were red, swollen and painful to the touch. I could not raise my right arm above my head to comb my hair or put on clothes and getting it behind me to hook my bra was out of the question. I moaned and groaned as I came down the steps in the morning, turned sideways and taking one step at a time while holding on to the rail with my finger tips from underneath the railing. My brain was foggy; I could not think clearly, nor concentrate for longer than a few minutes. I had trouble doing simple arithmetic in order to balance a checkbook. No anti-inflammatories even touched my pain and three tablets of 800mgs each of ibuprofen did not even dull it. Only high-octane narcotics, which knocked me out completely, worked and then when I awoke, I had to deal with the hangover they caused on top of everything else, so I stopped taking them and waited to die. MY life was miserable. I was very unhappy and I hurt so much at times that I was sure I could not stand it. Stress seemed to make it more intolerable. I was forced to take early disability retirement from a position that I loved because I could no longer tell my employer that I would be there every day and from the beginning to the end of the day. I was 58 years old at this time. Remember that you may not have all these symptoms if you are younger, but you can. HOW FMF WORKS: FMF works on the body's symptoms in a way that is best explained by the following: In the course of day-to-day activities, people incur a lot of Micro-injuries; a muscle stretched a smidgen too far, bumping your hand on the table, and so on. Each time such an injury occurs, a substance called C5a is released. C5a is a chemotactic factor for neutrophils. A chemotactic factor is a substance that, basically, 'says', 'Come here and do this', to a cell. Neutrophils are small white blood cells that are part of the normal non-specific immune system. They are the first cells to arrive at an injury, and have many, many functions, primarily as mediators of inflammation. They first cause the inflammation to occur; and then, when the need for inflammation is gone, they cause it to go away. They also act as scavengers, engulfing and digesting debris at the site of an injury. They are pretty neat little cells; but, the important thing to remember is that, in the presence of C5a, they CAUSE inflammation; which, amongst other things, causes the release of more C5a. In 'normal' people, a protein called pyrin is made that INACTIVATES C5a. As long as pyrin is present, the neutrophils won't be called to the site of an injury. Now, for a micro-injury, in a healthy person, this is not a problem. The inflammatory response really isn't needed to control the site of the injury, and induce healing. In a larger injury, the amount of C5a produced overwhelms the pyrin, and the Neutrophils respond. This is a very neat feedback loop. However in a person with FMF, the pyrin is either not present at all, or is present in less-effective forms or at lower levels. This is the reason that even very small injuries result in an inflammatory response by the neutrophils, which is inappropriate and which cause the release of more C5a, which calls more neutrophils . . . and so on. This response only stops when so many neutrophils are packed into the site of the injury that no more can get in. This is CERTAINLY NOT a good thing. The reason that colchicine is an effective treatment for some people with FMF is that it reduces the speed and effectiveness of the neutrophil's response to C5a; thereby reducing the inflammatory response to injury. The downside of this treatment is that the neutrophils will also be sluggish in responding to a serious injury, which can compromise a person's whole immune system. I have found that my immune system had already been compromised. Before taking colchicine, it was take anti-biotics for two weeks, off of anti-biotics for two weeks and then on again. Since I started colchicine, I have had to take anti-biotics many less times than previously needed. I think this is an improvement. Understanding about FMF and its effect on my immune system allows me to better understand how to take care of myself and get the appropriate treatment.