Familial Mediterranean Fever - Marii
Familial Mediterranean Fever The Familial Mediterranean fever is a genetic disease and therefore hereditary and because it is a rare disease and very uncommon it only affects 5'000 to 10'000 people in Europe and about 120'000 people in the World. This disease is characterized by recurrent episodes of fever and always accompanied by abdominal pain, thoracic pain and inflammation of the joints. As this disease is autoimmune and autoinflammatory, it affects all body tissue. And the body tissue is everywhere, head, feet, hands, respiratory system, digestive system... The trouble with this disease are the crises or outbreaks.
We experience them very often if we don't get any treatment and of course the fever tends to rise much higher and pains are much more intense. 90% of the time we get fevers with abdominal pain, diarrhea and vomiting 75% of the time, fevers, arthritis with inflammation of the joints and 30% of the time, fevers with thoracic pain and respiratory problems. Of course there are also other symptoms, they are less frequent but we always have fevers and intense pains. This disease is called as it is because: Fever, because of the recurrent and periodic fevers. Mediterranean, because it comes from Arab, Jewish and Armenian ancestors and it is found in all of the Mediterranean and comes from the Middle East. And Familial because it is a genetic disease.
Normally this disease is detected at the age of 20. In about 90% of the cases. But of course there are people that don't know they have it until the age of 50 or a bit before they are 20 years old. There are also people that never know that they have FMF and all of a sudden they develop a secondary disease. Every body is different. Every body is a whole other world.
This disease does have a treatment. A treatment which is not specific for this disease in this case because this treatment only helps to reduce the amount of attacks, so that you have 1 or 2 a year, which is basically nothing compared to what we normally have. And it prevents that we develop a secondary disease which is a lot worse.
But it still is not a specific treatment. There are also people who don't tolerate it, people who are intolerant to this medication called Colchicine. Those who don't tolerate it are left with nothing because if we have a treatment which is not specific and really does not complete us, which will not take away all of the pain, then what is left for those who don't tolerate it? Because there is no other treatment, no secondary medication. If at least you could say: There is this, this and this one, but no. There is only one and you don't know if it will actually help you or if it really works, it has not been proven that it will prevent amyloidosis. It may work to some extent but that is good enough for them and then they don't investigate further. Then there is the minority, who don't tolerate Colchicine, and we are like "And now what do we do?" The problem with being intolerant to Colchicine is that you are not protected, you are not protected from amyloidosis. Amyloidosis is a secondary disease, a severe one in this case because it contains a protein that is called amyloid.
And this protein blocks any organ, it can block every organ in the body. This disease causes an incredible kidney failure, eventually you have to receive dialysis or even a kidney transplant. This is not the worst thing, the worst thing is that in some cases it leads to death, not in some, in many.
Clearly all of us FMF patients try to avoid getting amyloidosis at all cost. Those who tolerate Colchicine and live a normal life have no problem doing this, but what do those do who don't tolerate it? What do we take instead? What do we use to avoid this? Because you have to avoid the crises, with every crisis you degenerate further and chances to devolpe amyloidosis rise. But how can you avoid these crises? With painkillers? Not really. There are people that are allergic to the medication and take painkillers instead because they can't stand the pain. Their bodies live with daily crises and attacks until they finally develop amyloidosis only then they have a treatmet. It is called Anakinra, or Ilaris in an extreme case.
They are injections that help to avoid the attacks but they don't prevent amyloidosis. But they don't want to give the treatment to us who don't have amyloidosis. They don't want to give us these injections because they think "For what? It is for worse diseases." Okay, maybe we won't avoid getting amyloidosis but we will avoid the attacks. Someone who doesn't tolerate Colchicine or is even intolerant, still continues to take it or try other alternatives, such as corticoids. This is worse, it is just a waste of time. They get told "First try all brands of Colchicine and then we see if you are intolerant." They make you go through hell of secondary effects until you get to a point where you can't take it anymore, only then they might give you the more expensive treatment.
Since we don't get studied, don't have a specific treatment and they think we are a minority although we are many, we have to suffer. This is the problem of this disease. They are rare, so why bother studying them? Since I was small I started getting pains very strong pains, abdominal pains, vasculitis, diarrhea, nephritic vomiting... Since I was small, at the age of 11 or so I always got very strong pains but because I was a small girl I thought: It is your body, it is changing, it is the metabolism, so I didn't take it seriously. I never imagined that I could be a disease, I thought "It is normal, don't give it any importance." But two years ago, it was the 1st of august everything changed.
My life changed completely. That day I got a crisis. The first one I think, the biggest one. The fever rose to 42°C (108°F) and I got sharp and very strong abdominal pains, like a peritonitis.
It was incredible. All the diarrhea and vomiting, I even lost consciousness. It was like my head couldn't put up with my body anymore and I fainted.
I remember that when I got to the hospital I was pretty bad, so bad that I don't remember anything, only that I thought I am going to die. I remember it as the worst day of my life. When I woke up the surgeons told me that they were going to operate me. That I had appendicitis.
And this is the case with this disease, when you get a crisis, symptoms of an infection appear. Those infectious symptoms, the abdominal pain and the fever make it look like you have peritonitis or appendicitis. And not only appendicitis, but a perforated appendix. The they told me "We are going to operate on your Appendix, urgently." When I came out of surgery I was told that they don't know what I have but that the infection and the fever have gone down.
But well, I felt good about myself, I was well, this never happened to me and I thought that it just was a fall, I never imagined that it could get worse nor that it could happen again tomorrow. But two months later it happened again. I got another crisis with very sharp and very strong abdominal pains... And it hurt like never before. I fainted again.
I fell again and everything began. A war, a war against doctors, against tests and my own body. So, the first diagnosis was that "the problem comes form the operation, you are like this since you got operated because you didn't have anything before" the told me. Then I experienced several months of hospitalizations and more hospitalizations, exams and external tests that really didn't matter.
And they always told me "You don't have anything, we can't find anything, we don't know what you have. It looks like you have an infection but we don't know where." "You don't have anyting." And I said "I have got to have something. I have got to have something and it is from the operation. I myself said that is from the operation. I feel worse since I got operated." And I always remember that a surgeon always told me "You came that day with the same pain as now, it is as if your pain keeps repeating." And it was incredible because it really was like that. But I said "No, I have got something!" I was like that for months and months. I had given up and stopped eating because every time I ate, it hurt. But nobody understood that.
I didn't eat, I didn't go out. I stopped going to school, I stopped living a normal life. I lost 22kg (49lb)... ...and stopped having a life.
I've lost my childhood, my adolescence just because of the pains. After a year passed by they decided to do more tests. It's like they had enough of my existence and that I had something. So they told me "We are going to test everything we can until we know what you have." A doctor told me "You are not leaving here until we know what you have." I was one and a half months in a hospital, a hospital that you could call Hell. When you are 16 years old you shouldn't be in a hospital, because it is Hell. Because you only live from one test to the other and somedays I thought that I can't take it anymore.
But the worst thing was that I knew I had something, because your body knows it, because you know it. You know you have something because your body is worse every day. I said "Even I have to stay here for the rest of my life, I will find out what I have. But I will not give up for anything in this world." And like this I bared with it.
I bared with it while getting a thousand tests done until one day they wanted to do a genetic test, they said "We are going to do a genetic test although the digestive team doesn't think it is necessary, and that it is just a waste of time and money. But I think you could have Familial Mediterranean Fever." And I said "What is that?" And one day I left, they discharged me... And... They discharged me without knowing what I had. I went back home just as I had gone, and for me that was it. I said to myself "Okay, I give up." Because the last thing I needed to hear was "There is nothing more we can test. Most came back negative, and those who are positive don't explain your pains and fevers.
So we consider you to have chronic and psychosomatic pain." Then you say "Okay, give up. Why should I keep arguing with them?" The doctors telling you that is not worst thing, because a doctor has that coldness and sometimes little knowledge of what can be done. When they don't find what you have they always say "I really would like to know what you have." Well if you would like to know it, then find it out. You have everything needed to find out what I have... ...and finally they did.
And... When I walked out of the doctor's office, I surrendered. I thought "It's over, now it is really over." And the worst thing is not that, it is that your family thinks you are crazy, but you are not. And the doctor thinks it is psychological, that you have a problem at school, with your friends or that you are not happy with your life. That something is failing and you just seek attention, or that you have problems with your family. So you think "Why should I continue if nothing is going to change?" Days before going to psychiatry the hospital called me and said I should go there the next day, that the results were in.
And I thought "Results from what test? If all of them came back negative." But because I normally was in the emergency room I thought it could be an emergency. The next day at the hospital I was with the same doctor who sent me to got to psychiatry, the one who said I wasn't crazy but it had something to do with the nerves. I remember him saying "I have got good and bad news. The good one is that we know what you have and the bad one is that is something serious." I asked "What do I have?" And he says "You have got Familial Mediterranean Fever, it is a degenerative genetic disease." And I thought "I don't care. Finally!" It was like music to my ears! I got really happy, and said "Finally! Finally I have got a diagnostic!" I knew I had something, my body was telling me that it wasn't the same, that it was changing.
Why would I have a psychological problem? Sometimes I told my mother "Do you think that I with 17 years want to be like this? That I want to be bad? That I can't get out of bed? Or that sometimes I have to leave school early and not have a normal life like my friends? No, that is not me! It's something inside of me that doesn't allow me to do those things." The next my way of thinking changed when I started to research information about the disease. Then... You find out that it was just a stupid little thing. And you think "How come I have been like this for such a long time and didn't realize it sooner? Why couldn't it have been diagnosed sooner?" because it could have.
Or couldn't have all the suffering been avoided? Because I went through Hell and back until I got there. A journey to Hell that I even wouldn't wish to my worst enemy. Then you realize that you prefer to have something to fight for than not to know what you have. Even when you have something you can't really fight against, at least avoid it bringing you down. It... Is hard... It's not easy to live with it.
And like every teenager with FMF, I got frustrated. I fell and said "I don't have this disease. I will not accept everything that has happened so that it can keep dragging me down. If my life was already limited until now, now it will be even more. No." But one day, a person who is very important to me, told me "If you have come this far you know that you are a fighter and what you can do, now you know what you have, just keep going. And one day you will be able to live a normal life." Yes you can live a normal life. So she said to me "You can do it!" Then I decided to write my story on a website from the US, and thought that nobody will comment on it. At that time I was not taking Colchicine.
And I was already having secondary effects, but I didn't even imagine that i was because of my intolerance. You think that it is normal. One day a woman commented on my story, a wonderful woman. A mother with courage that has a son with FMF, of my age. And she told me "You are intolerant to Colchicine." And I said "What? How?" She said "Yes, you have to be intolerant to Colchicine, because if after 3 days you don't feel better you are intolerant." And... Because of the incompetence of these doctors, they ordered me to up the dose 3 months later. 3 months while I was experiencing the secondary effects, without protection.
With double the pains than when you take Colchicine or you are not intolerant. And I thought "What do I do now?" She then told me "You have to change the brand." I went to the doctor and said "I have to try other brands or get the injections." He said "Before you get any injections you first have to try all the brands in the world." That clear. Three wonderful women that I met, that I was lucky to meet, because they are people who really know what FMF is. They know the suffering, they experienced the incompetence of the people and how to study it. They really know everything about this disease! They know how to live a normal life, they know how to protect you, they know everything. Then this woman said "I am going to help you, come with me and I will help you." One day I packed my suitcase and went to Switzerland, to where she lives.
She gave me to try every brand of Colchicine that she could, but not only that. Every brand of Colchicine she could get but not only that, I learned what it means to be strong. I learned how to live with this disease. Living with this disease is very restricting. A limited life, you have to be careful with your diet, with your physical effort, the exhaustion, with your emotions because everything can affect you She helped me to do this and to listen to myself, to my body.
To relax my mind. And to know what the disease is, to know why I am sitting here today. Of course some people will listen to me and other not. Some will know what I am talking about and other won't.
But that woman changed my life and even more so because of my problems with the healthcare here, the incompetence and the incomprehension of the doctors here. But I realized that her case was a lot worse. Her son is being treated like he was crazy because of having negative FMF. Like he would be a lot better in a psychiatry. That woman is a mother with courage that fights against the authorities just like I do here with the healthcare. Yes it is a rare disease, yes we are rare, but not invisible. We could live a normal life, but if we don't have a specific treatment, nor the ability to get one, we can't do it.
Although our bodies could do it. We who have FMF, physically and intellectually don't look ill. We are okay and can live with it, that our body doesn't let us is a different thing. It has nothing to do with it. Until today I have not found a treatment. I'm still without a treatment. I still get a crisis every two weeks.
And this hurts and I suffer, I just want to live a normal life like any of my friends. I can't live a life like everyone else. I have a very limited life like everyone who has FMF. But I will not act like it is limited, no. It is hard for me not to be like one of my friends, like a normal girl of my age, but I don't care. I wake up every day with a smile on my face, I wake up happy. Do we fall sometimes? Of course we do.
But if I don't take care of myself, if I don't feel good with myself, physically, who will do it for me? I know that I have got a lot of goals in my life like everyone else. At best I will not be able to reach all of them because my body won't let me, but I will still try. What I want to say today is, It is very tough because the life expectancy with this disease is quite short. It's not very long. It's hard knowing that at any moment you can develop amyloidosis..
...and die. I can't deny that. Or that you will have a limited life. If at 18 years old I have a limited life, I don't even want to imagine how it will be with 25 or 30. Maybe I find a treatment tomorrow, or the healthcare changes and stops ignoring me. Who knows? The problem is the social incomprehension in this country, in this and every other one. We are many, we are many people that suffer from FMF. Because when I suffer from it, others behind me do too.
My parents, my siblings, my grandparents. But nobody studies us and before doing a genetic test they say that you are crazy or have fibromyalgia, for exaple. Or even operate unnecessarily. Or just give you Colchicine to not do the genetic test. But we have a life, we have one and want to live it. We want to live a normal life, we want to be treated good, we want that the doctors treat us good, that the authorities understand us. The problem is that when people see you, they don't see your pain, they think you are okay.
With such a limited life, when you are next to a normal person with the same age, you want to be better than them or at least look like you are not sick. If physically we don't look sick, we try to be on the same level, so they see you and don't even think that you could be sick. I'm sure that more that one person watching this video is thinking "And this girl has FMF?" Well, yes. If it weren't for the incomprehension of the doctors, I wouldn't be sat here today. I would have a treatment, living a normal life or being outside with my friends.
I wouldn't be complaining about this so that the whole world can hear me. That we are not few, we are many! And that they don't investigate us, because they don't want to. I need some injections that are called Anakinra. Not too long ago a doctor told me "Anakinra is only for worse diseases." And I said "Is there something worse than being blown out like a candle every day? No." There is nothing worse than being blown out like a candle every day, because that's what I feel, that life is slowly slipping through my hands. And sometimes you just fall, because you don't know what tomorrow will bring.
Because you don't know if you will survive the crisis or not. And if tomorrow you want to get pregnant and have a child, you don't know if it will have the disease...it's a very limited life, but you can live with it... Somehow. I just want people to understand, I finally want people to understand that we are sick, that we are rare, but not invisible, that we have a life.
Sometimes I feel very proud, not only of the people who have FMF but of those who have Amyloidosis. Because every day I get up, I get out of bed, eat, shower, get dressed, just like every other person. For you or any other person it might be normal, but for us it is a great effort. We have to get up everyday and living is an effort for us. Our effort is twice as much as yours, because even if every inch of our body hurt we do it. Because our mind is well and says "You can do it." Although sometimes your body doesn't let you, because there are days it doesn't let you get out of bed and you can't live a normal life. I may not be able to go to school and live a normal life but I still try. Maybe not 7 days a week but 4 or 5, it doesn't matter.
Sometimes I hear about people who are really worse than me, but they can handle it and live. I want to live, I always say that I want to be happy, because when the day come that I am happy, everything will be okay. The only nightmare I have is amyloidosis, I don't want to encounter it. I have faced death various times but I don't want to face amyloidosis, because amyloidosis plays on a whole other field. And I am tired and sick of it. If any of the doctors that hear me or hear us, should know that we are not alone, because I didn't sit here by myself. I have 20'000 people behind me.
People that are in a corner, only we really understand each other, not even our families and friends do. Because they think that it's impossible to have so much pain, but it is possible. It really is. Only because we hide behind a pretty face or smile doesn't mean that we aren't living in a world full of pain. I want all doctors and people who are listening to understand that you have to be careful with us and have some heart.
We are people who really suffer a lot emotionally. We give our everything every single day, just to keep going and make the best of it. My name is Marii, I am 18 years old and I have Familial Mediterranean Fever. And I have a lot of people helping me to do this, people who really matter.
For others they jus might be sick people, but for me they are the most wonderful people I have ever met. People... That are incredible. There is no other word to describe them. Let's help them to live life. Let's help them to keep going. I am just asking for help and understanding. Understanding for the medical, the emotional, the familial, everything.
And that if you even have the slightest thought of having FMF, do the test and don't lose time. The more time you lose...the shorter will your life be. We found each other in the FMF Association on Facebook, FMF España. There we are, in out small corner. Who knows? Maybe someday another person will be sitting here and saying "There is a treatment for FMF, and today I am cured. Not really cured because that is impossible, but at least a lot better and can live a normal life." I know that we all ask ourselves "Why? Why me?" I ask myself this every day when I wake up but this is what life has given to me, so I will live. I want to be happy!.
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