Familial Mediterranean Fever community

Familial Mediterranean Fever (FMF) is a hereditary autoinflammatory disorder.

Familial Mediterranean Fever - My Story

Written by Nancy, published 26 days ago.

This post tells a little of my story...

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.

Diagnosis
Just about 14 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. I was tested for 14 genes at that time. As I understand it there are now over 180 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. I have improved so much with that treatment.

Dr. Chris Morris of Kingsport, Tennessee, the doctor who first recognized this pattern among Melungeon descendants says that a POSITIVE reaction to colchicine is a positive diagnosis of FMF for us. My own local doctor told me the same thing.

Growing up with FMF
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?

Without a Diagnosis
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!

“It's in your head..”
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.)

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. I had to have radio-active iodine treatment to kill my thyroid.

I had even looked into a possible diagnosis of Chronic Fatigue Syndrome because 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 diagnosis 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 improving!!! It is like a miracle.

Geneology Meets Genes
I came across the diagnosis of Familial Mediterranean Fever through my genealogical research. I found a connection to a little known group of people called Melungeons who were found originally in North Carolina/Virginia/Kentucky/Tennessee/West Virginia in the United States. Some Melungeon descendants suffer with one or more of at least 5 major Mediterranean inherited illnesses. Familial Mediterranean Fever is one of them.

The Melungeons are a people of apparent Mediterranean descent who may have settled in the Appalachian wilderness as early or possibly earlier than 1567. (The Melungeons: The Resurrection of a Proud People; N. Brent Kennedy, Mercer University Press, Macon, GA, USA, 1997; introduction, p. xiii) The Mediterranean includes areas of North Africa, southern Europe and Central Asia.

From research that I have done, I am led to believe that they are sizable mixed-ethnic populations spread throughout the southeastern United States and into southern Ohio and Indiana. While the term `Melungeon' is most commonly applied to those group members living in eastern Kentucky, southwestern Virginia, eastern Tennessee, and southern West Virginia, there are related mixed-ancestry populations also including the Carmel Indians of southern Ohio, the Brown People of Kentucky, the Guineas of West Virginia, the We-Sorts of Maryland, the Nanticoke-Moors of Delaware, the Cubans and Portuguese of North Carolina, the Turks and Brass Ankles of South Carolina, and the Creoles and Redbones of Alabama, Mississippi, and Louisiana.

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. I went to 2 other doctors where the same thing happened before finding the doctor where I was finally diagnosed.

Trying Colchicine
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-inflammatory medication 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.

Looking Forward
Today, 14 years later, I have FMF flares 3 to 4 times a year, generally in stressful times and none are as severe as I suffered previously. I do have some joint problems because of the long term inflammation caused by FMF but for the most part I am able to live with those.

My goal is to help others who may have this illness, find it earlier than I did.

Nancy M.
January 7, 2011

Written by Nancy, published 26 days ago.

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