In the Fall of 2008, Dr. S, a nephrologist (kidney) expert, at Vanderbilt University Hospital sat staring at his computer screen. Dr. S looked me briefly and then turned his attention back to the computer screen. He spoke slowly with conviction, “In my line of work, miracles are rare. Both your kidneys have a fair amount of amyloid deposits. In every case, I have seen the amyloids go straight for the valves. In a few short months, amyloids usually kill a healthy kidney. In your case, the amyloids have settled as far from the valves as they could get. Will they migrate to the valves? Most likely, but for today, God has sent you a miracle and I have witnessed it.
I will spare you all the details of thirty five years living with a “mysterious malady” left me chronically ill in my forties. I was told by numerous doctors I only had anemia, which was severe at times. There was no explanation for the myalgia, arthritis, and fatigue symptoms. Despite my attempts at positive thinking and clean healthy living, my mysterious malady would disappear for months or even years at a time, and return with more symptoms and an increase in pain levels. I was called a hypochondriac more than once. This mysterious malady that I speak of was finally diagnosed AFTER I had my DNA test done. At Marylee Mitchum’s insistence I read N. Brent Kennedy’s book The Melungeons: The Resurrection of a Proud People: An Untold Story of Ethnic Cleansing in America ( thanks Marylee the angel,who helped saved my life).
In one of the chapters. Brent Kennedy re-accounts his experience with his “mysterious ailment”. As I read this particular chapter, I went back several times to read over his symptoms. In my mind I made a check list: I had that, and that, and that, and that. I had almost all of the same symptoms. He was diagnosed with Familial Mediterranean Fever (FMF); an inherited disease commonly found in Sephardic Jews and to a lesser extent Ashkenazi Jews, Turks and Armenians. The carrier frequency has been estimated to be as high as 1 in 6 in North African Jews. The diagnoses of FMF led Kennedy to Melungeon Studies and to be considered the father of the Melungeon movement. FMF is now considered to be a Melungeon disease as well.
I eagerly did research on FMF. At some point I pulled back telling myself, “Joanna-the-Hypochondriac you are really going over the edge, cause now you are taking on other people’s illnesses.”
Two of my friends also read Kennedy’s book. Independently of one another, they both told me Kennedy’s FMF, was my mysterious malady. They said, “You have this same rash. You have most of these symptoms”. Either my friends had now been sucked into my delusional state, or we were on to something. I wondered could it really be this easy? From my research on my family, I had found distant cousins who died young. Their descendants said something like, “Pa just got tired and died”.
I concluded, “Yeah, that is what my kids would say too”. I steeled myself for accusations of hypochondria from the medical community.
At that time I was in between episodes of my mysterious malady and was relatively symptom free, except for pain in my muscles and joints which had come and stayed with me for the last ten years. In April of 2008 the other symptoms came back. This time, I was armed with information. If I had FMF, I now knew the “flares” would last a few hours to three days. This explained why before I was symptom free whenever I saw a doctor. I only saw a doctor between flares. I needed to get my flares documented and to get a doctor to diagnose me. 
Mike and I saw a doctor who operated a drop-in clinic for minor aliments . Dr. R had been the director of a large hospital ER. With his background in ER work, Dr. R. was good at diagnosing illnesses. Beginning in April, I started going to Dr. R every time I ran a fever. Dr. R documented my fever and symptoms. He prescribed antibiotics. In a couple of weeks I was back. He prescribed more antibiotics. In two weeks I was back with fever. After Sunstone Symposium in August, I came into his clinic with an acute flare. All the symptoms manifested, with a high intensity of pain. I was ready to be diagnosed. I showed Dr. R the DNA tests on my populations, I explained to him I had a strong likelihood of Sephardic Jews as my ancestors. I told him I thought I had FMF. Of course he did not know what FMF was, but he was humble enough to listen to me. He got out his computer, looked back at my chart and examined my rash and joints closely. He said, “I believe you are right”.
Dr. R ordered the same blood and urine tests as in the past which showed nothing, except severe anemia. This time the tests come back with extreme highs and lows, and one disturbing fact, which was protein was in my urine. I had amyloidosis, caused by FMF. Less than 5% of FMF patients develop amyloidosis. Of the less than 5% of FMF patients who develop Amyloidosis, 95% of the cases are North African Jews; remember the carrier frequency in North African Jews it has been estimated to be as high as 1 in 6. Most people with FMF-Amyloidosis, who remain untreated, die before 50. I was 4 years from 50. Others with FMF, usually do not die from FMF, but have a shorter than average life expectancy. To make a long story short, I ended up with specialists who could not believe I had gotten this sick before I sought treatment. I was ultimately diagnosed by Vanderbilt doctors with vasculities, which causes internal bleeding, and amyloidosis; both conditions caused by FMF.
The treatment for FMF is so simple. Two little white pills called colchicine twice a day. The cost is $10.00 a month. The success rate of colchicine in FMF with stopping Amyloidosis ( if caught early) is 95%; with a 75% reduction of all FMF flares. Unfortunately colchicine does not stop the progression of arthritis.
Because of my diagnosis, two of my children have been diagnosed with FMF. Piano Man has it more severely than Jie Jie, who has a lighter case. We are all responding well to treatment. Family History did indeed save my life and the lives of my children. It was the catalyst that propelled me to find the answers to my mysterious autoimmune disease.
For both of my children to have FMF, it is probable FMF is also in my late husband Mike’s family. Remember in both our family lines, all of our ancestral lines are Mormon Pioneer and we are 4th cousins. We have thousands of cousins in the LDS, Community of Christ and FLDS Faiths. It is possible other far flung cousins also have FMF.
Lupus is often given as a misdiagnosis for FMF. Symptoms found in FMF, are also similar to Chronic Fatigue Syndrome and Fibromyalgia. Doctors do not know to look for FMF in chronically ill
individuals, because FMF is considered to be rare in Western populations. FMF is a common disease in Israel and in Melungeon populations. It is another witness to the truth that many of our
ancestors were Sephardic Jews, Perhaps some of you have some weird little ailment. Perhaps you also have FMF or something like it. It is well worth it to get your DNA tested to see what your true ethnic group is. You could save your life, your child’s life or another family member.
Wow, Joanna, what a great story!
This was fascinating. Thank you!
Er, holy crap. That is an absolutely amazing story, JA.
Wow! An amazing story, Joanna!
Wow! is all I can say. Glad you were able to find out what was wrong with you and your kids!
I do enjoy your posts, I always learn!
This is really quite extraordinary, JA. Thank you for sharing it with us.
I am really glad you found the proper diagnosis and your medication is helping you.
However, I really hope you won’t perpetuate the Melungeon Diseases Myth.
To quote from MHA which Brent Kennedy helped establish:
The diseases most widely reported as relating to Melungeons include Familial Mediterranean Fever, thallasemia, and several other ailments. The only real significance of these diseases in relation to Melungeons is that some people of Melungeon descent have been diagnosed with these diseases, many of which tend to affect people of Mediterranean ancestry, and are relatively rare among the Anglo-Saxon or Celtic people of Appalachia. Those who have one of these diseases have reason to believe that someone in their ancestry had an ethnic disposition to this particular disease. However, it is a mistake to assume this ailment, in and of itself, is an indication that one is a Melungeon. Relatively few people of Melungeon descent have these diseases, but unfortunately several reports have focused on the disease issue to the point where many believe that having one of these diseases is a primary indication of Melungeon ancestry, or that all Melungeons are afflicted.
http://www.melungeon.org/node/8
This is amazing and wonderful, Joanna. I’m glad you’re still with us.
History Chasers,
Thanks for that. Fortunately, I don’t see any arguments above for any of the ideas you point out are misleading. On the contrary, Joanna looked into FMF *because* of her suspected Melungeon ancestry.
I’m glad to know there is a Melungeon Heritage Association.
Ben; There is also a Melungeon Historical Society and an excellent blog.
http://melungeon-historical-society.blogspot.com/
Merry Christmas!!!
Thanks Geoff, Joyce, m&m, Brian, J. Stapley, Ben.
History Chasers, Thanks for stopping by to comment. I love that a member of the Melungeon community has stopped by to comment.
I am sure you are aware of the wonderful Nancy Morrison, the FMF spokesperson, in the Melungeon community. http://homepages.rootsweb.ancestry.com/~mtnties/disease.html I found this page of hers about the Melungeon diseases. I am member of her yahoo group. Most of the yahoo members are SE USA citizens.
It is a fact that the expert on FMF is Rheumatologist Christopher Morris in Johnson CIty, TN. My insurance company will not pay for further testing to see what strain of FMF we have because we are living in Tennessee and they are over the limit on testing for FMF. Blue Cross does not consider FMF to be rare in Tennessee. They say if the colchicine works great, FMF is what you have. I cannot disagree as I wanted the further testing to backup my own research. I believe my FMF is a big witness of my Sephardic ancestors. My Sephardic ancestors do not show up on my DNA test because they are not a stationary population. As they moved about they picked up people form these areas that show up on our DNA test. Both my parents showed for Spain/Portugal.
I am only a kinda Melungeon on a very broad scale. Here is the link for my DNA populations test http://www.millennialstar.org/rising-out-of-obscurity-sephardic-jews-and-the-lds-connection/ . Another test showed our Mestizo mix.
As Ben pointed out it was investigating my kinda Melungeon ancestors I ran into Brent Kennedy’s book. The Father of the Modern Melungeon Movement has this ailment. In his case, the diagnosis came before his research; mine was the other way around.
Great story. I too have FMF and have had it from birth (I’m now 58). I was diagnosed – by exclusion – by a very sharp gastroenterologist in 1972. It runs on my father’s side and most of my cousins have it as do my sister and two brothers. I have been controlled with colchicine 0.6 mg daily. My siblings only take colchicine to abort acute attacks. I’ve had only 1 episode of joint involvement and no one in my family has amyloidosis. As far back as I can trace my heritage we’re all Anglo Saxons. I have a niece who passed it onto one of her 3 children. It is a nasty disease but well controlled with colchicine.
Thank you Pattie for your comment. It is wonderful your doctor picked up on it. Are you in the USA? With the exception of the Mediterranean or Israel, most doctors do not recognize the illness and are not able to diagnose. If curiosity gets the best of you, it would be interesting to see where your DNA has been in the last 500 years. FMF has a wide variety of severity and clusters of symptoms. For example, Turkish FMF symptoms are different from North African Sephardic FMF symptoms etc.. Colchicine is a god-send. If you are in the states, are you having difficulty locating Colchicine right now? We were, and are now, getting our meds from Canada.
If any one else is having difficulty getting colchicine. Please email me privately and I can tell you who to contact.
I have had a mystery diagnosis for at least 2 years, disabled since June 2008. Don’t have a diagnosis because no one in South Carolina knows anything about FMF. I have suspected it since May 2009.The more I read about it , the more I am convinced that I have it. Last year I finally convinced a MD to run the MEFV genetic test. It came back negative. Now I am back at square one, same disease, no diagnosis.I am receiving Colchicine and the flare-ups decreased until the DNA test came back negative.When I stopped the Colchicine I went into one of the worst flare-ups ever.Am back on it now and just going into the recovery period. Do you know of people with it who have neg.MEFV tests? I was born and raised in Southwest Virginia and my siblings and children have the same symptoms.I have located a MD Chris Morris in Kingsport Tenn who knows about it & I have an appt with him in May. Does anyone else know of any other MD I could see sooner.
Lisa,
Thank you for your comment. Chris Morris is the dr. to see for FMF. I am sorry you were stopped on your Colchicine. Going off the colchicine makes FMF worse and more deadly. A positive reaction to colchicine is a clinical diagnosis for FMF. The MEFV test does not cover all the FMF gene types. It is especially faulty with the Melungeon populations of the southeast US. My insurance would not pay for the test because we live in Tennessee ( we are not natives and only kinda Melungeon), and regarded a positive reaction to colchicine treatment as a diagnosis for FMF. Please consider joining the FMF Yahoo group, moderated by the marvelous Nancy Morrison, at fmf_support@yahoogroups.com for a boatload of information and support. If you want another MD, find a Jewish or Muslim MD. They will have heard of FMF. Try to get in to see Dr. Morris, he is the guy to go to.
Good luck, and again, if you have trouble getting colchicine, please email me privately Joanna Benson at comcast dot net (no spaces) and I will show you how to get Canadian colchicine.
JAB, were there any foods in particular that triggered FMF flares?
Bookslinger,
Thanks for your question. FMF symptoms are unique for everyone who has it. For me, food is not as big of a problem as is stress (both good or bad). I have tried to eat a healthy diet my entire life. All three of us ( Piano Man, Jie Jie and myself) have noticed that lots of sugar can throw us into a flare. Christmas is also known as “the flare season”. Mixing dairy with meat gives us painful digestive problems, and we are all somewhat lactose intolerant. I went off sugar completely a couple of months ago and my arthritis is mostly gone.