Patient stories

Australia - Story 1

I don't remember much of my childhood except for what I was told by my eleven year old sister. She said I was always a sick child, also my mother use to tell me how much she dealt with me. Maybe it's a good thing that I don't remember all the pain. Back then, no one knew what was wrong with me.

From 11 years old, I was suffering with kidney and bladder stones. I remember once when I was crying from a strong pain in my lower abdomen and my urine was bloody. My mother thought that someone had sexually assaulted me and she was trying to get me to speak (who did this to you?!). It was a very difficult time for me. Flares were coming and going, I stopped going to doctors as no one knew what was wrong.

 

Years later, after the birth of my second child, I crumbled and fainted. My sister took me to the hospital and there was a professor who asked my sister if we were of Armenian descent. He told her that I'm suffering from a disease called Familial Mediterranean Fever (FMF). He prescribed me colchicine and said that I should take these tablets for the rest of my life. I saw the tablets and I didn't like what I was looking at. Since there was no confirmed diagnosis, I refused to believe him and didn’t take the tablets.

Attacks kept coming and going, I moved to another country with my children. There I was hospitalised at least three times. In one of these occasions, my appendix was removed. It was sent to the laboratory and when the results came back negative, the specialists were speechless.

 

At the hospital, after the operation, I flared badly and had a very high fever, I was even unconscious. I was then taken back to the operating room and five key holes were made, to place cameras inside, to see what was wrong. The doctor later said that he had never seen anything like this before: my entire abdomen and organs were badly inflamed. They put me on high doses of antibiotics. Later on, I became resistant and unable to tolerate it. Samples were sent to the laboratory and results showed that the inflammation was non-bacterial and therefore, it should not be treated with antibiotics. The drips were removed and 4-5 days later, the inflammation was gone and so was the fever.

 

In all these years, I had times where I was ok and totally forgot about the pain and tried to be positive and put the nightmare behind me. However, just as I thought everything was ok, I was struck again by the flares. This time, my new doctor ordered a genetic test and three months later, the results arrived: one MEFV mutation was found, that was in 2006. By then, my pain was so bad, I couldn't even stand up and it was such a daily struggle, I just wanted to die. I couldn't work or do anything and shortly after I was placed on disability and my husband acted as my carer.

 

A few years ago, my husband past away. The government then suddenly decided that I’m not sick at all and the previous diagnosis was a mistake. Ever since, I have been battling with the government and the fight is not yet resolved. In the meantime, I have been hospitalised several times. More tests have been requested: bone marrow and tummy fat biopsy, a jugular liver biopsy, etc. My liver has also been affected.

 

My Rheumatologist is trying to get me on a biological medication. This disease is a lifelong battle. As I grow older, I feel I'm losing control. I feel anxious and lonely, living in fear all by myself and not knowing what the future will bring.

Australia - Story 2

I have struggled since early childhood with abdominal issues. I was diagnosed with vesicoureteral reflux as a toddler and my symptoms were always blamed on that or "behavioural/psychological issues".

In 2001, I had a huge flare. I was diagnosed with Leukocytoclastic vasculitis. Not long after this, the suggestion of FMF came up. I then discovered my great aunt had died from amyloidosis. I was tested but only for a few variants of FMF that could be tested for in Australia at that time. They picked up E184Q and I was told I was carrier. That was it. It was all forgotten about.

The symptoms had never gone away, they have become more frequent and severe. In 2008, I saw a geneticist who believed I did have FMF and recommended I start colchicine. I did have improvement.
I moved states and again the Dr continued to question whether I actually had FMF. My inflammatory markers were not rising as expected. Another test was ordered. 4 mutations were revealed. My mother has the same 4 so the Dr insisted - not FMF, not compound heterozygous.
My symptoms have again persisted and worsened and I have developed neurological issues.

Malena referred me to a renowned specialist last year. I have finally got my report back (Me being sick and in hospital resulted in long gaps between correspondence). I finally have confirmation in writing from a renowned specialist that YES, I do have FMF. It would appear I also likely have Neuro Behçet’s.
My atypical symptoms are not so atypical when put into context of one of the mutations I have  - specifically P369S-R408Q. It is also seen in Behçet’s. The renowned specialist also pointed out that this mutation also is known to involve partial or complete resistance to colchicine. I also carry the mutations E148Q and A475V.

Fingers crossed, I can now get effective treatment started. I'm angry that it has taken so much to get to here. I am now using a wheelchair, my vision has been permanently affected as has my gut, my bowel and my bladder - to the point my bladder no longer functions and I am reliant on a supra pubic catheter.

I'm angry for my young children, who have had to deal with a mother in and out of hospital and becoming increasingly disabled. I'm angry for my parents, who have watched me deteriorate and felt powerless and partly to blame - although I have never once felt that they are to blame at all. I am angry for my relationships that have suffered. For the stress this has put on my husband. For the friendships that have ended.
I'm angry at the tens of thousands I have spent in trying to sort my health out. The career I had to give up. The children I wanted to have but couldn't.

But what I am most angry about is being told that this was in my head for so long. To the point I would second guess myself and try and convince myself the pain wasn't real until I would almost pass out. That I was ashamed to go to the doctor and ask for help.

I am glad I have fought for answers and stuck to my guns that this was not in my head. I am grateful that a very experienced specialist abroad agreed to take the time and effort to help me put this into context. Thank you Malena Vetterli for getting me in touch with the renowned specialist. Here is hoping my life is about to change for the better.

Australia - Story 3

Last year at age seventy-two, I was told that I have Familial Cold Autoinflammatory Syndrome (FCAS).

I have the A439V mutation, which according to some publications results in FCAS. Other publications say Muckle-Wells. I have many relatives who have this same mutation and the variation in illness it causes is amazing. One of my cousins and her dad seem to manage quite well without treatment. Her sister however does need biological drug therapy (usually daily injections), but for complicated reasons she can only inject every second day. She is struggling. The irony is that she actually self-diagnosed correctly years ago, long before the internet, but was not believed. We think the inappropriate treatments that she has had, have caused the issues she is now having. Her father, now in his mid-eighties, won’t even go near a doctor because their intervention has made him so sick in the past.

My grandfather was a powerful man. He landed in Gallipoli in WW1 and spent the rest of the war on the Western Front, so he was not hugely inconvenienced by the mutation. My mother also got the rash but it did not disable her as much as it did me. During the winter, I learned to hop on whichever foot happened to be working, and if both were out then it was back to crawling. Sometimes my brother would pick me up and carry me. Of course, back in the nineteen-fifties, anyone presenting a fever, rash, joint-pain and high ESR would automatically be diagnosed as having rheumatic fever. For most of my teenage years, I was on penicillin, sulphur drugs and aspirin. Ah well, I guess the aspirin helped to control the inflammation. Unfortunately, this wrong diagnosis has impacted on my life in that I was not allowed to play sport or do anything strenuous, and having rheumatic fever on my record made it hard to get a job or insurance.

Last year, my daughter was so ill that she could only struggle out for a few hours each day, and she was deteriorating fast. She had begun transferring her finances over to her husband, so that it would be easier for him to manage after she had gone. Then on April Fool’s day of last year, I received a phone call from one of my cousins telling me that her niece had been diagnosed with FCAS. You see, quite by chance, the niece had married a genetic research scientist. It was still a several months before my daughter could find a doctor who would believe her and order the genetic test. She is now on two daily injections of a biological drug therapy. She is a lot better but far from well.

At the moment, there is only one biological treatment available in Australia. I am currently on a daily injection, but it is not enough. As it wears off towards the evening, my headaches and the pain in my eyes return.

So, I say again, the illness caused by this mutation varies so much from person to person, from almost nothing at all to life threatening.

Canada

One day when my son was 19, he started screaming due to an indescribable abdominal pain. It was the beginning of a series of endless pain attacks, vomiting and low fevers. It took 4 years until the disease was finally diagnosed: Familial Mediterranean Fever (FMF). We finally had a name to the suffering and were promised help and guidance by doctors.

Now 6 years have passed since his first episode of pain and we are no further ahead with any health care provider. His condition is deteriorating rapidly and nobody is helping. My son is now 25 years old and the pain has passed all limits. Due to the pain, he is not able to eat or drink for days!

He is not getting any help to treat this condition, not even when I take him to emergency. They treat him as if he is a drug addict seeking strong drugs, despite us having a diagnosis and all the documents to prove that he does have this disease. Emergency departments will not take the documents into consideration at all.

Since he is resistant to the first line of treatment for his disorder, which is a tablet called colchicine, he needs to be put on a biological medication which is very expensive. We are still waiting on approval.

Doctors have given up on him and nobody is helping. If it wasn’t for the FMF & AID Global Association, who is trying to help my son, I don’t know what we would do. As his mother, I know that if no help happens and soon, I will lose my son to this illness. The pain and mental anguish he suffers almost daily is killing him!

Lebanon

Since infancy, my twin brother and I used to have severe pain and cry a lot, which my mother thought was colic. Around the age of one, we did our first blood tests and the doctors were shocked by our low iron levels and high inflammatory markers, but no one could tell us what was wrong with us. First the doctors thought we had Alpha Thalassemia minor, the doctors made my mother so worried that she practically stopped everything in her life and concentrated on our health. She would make sure she gave us iron supplements and fed us well.

 

We suffered from high fever, severe vomiting and stomach aches. Every time doctors checked us, we were told we had viruses. My mother couldn’t understand what was going on. Then I started to have swollen knees that hurt a lot. My mother took me to a rheumatologist and he said that I had arthritis and gave me anti-inflammatory pills to recover. On top of that, we always had annoying allergies, which the doctors called eczema. Until then, doctors said we had Alpha Thalassemia minor, low immunity, eczema and arthritis.

One day, at the age of 7, I had severe chest pain that I couldn’t bear. My parents took me to the hospital, where I was given a strong medication against the pain. They carried out all sorts of tests and finally found out that I had Familial Mediterranean Fever (3 gene mutations). We have since discovered that my father has FMF, my mother is a carrier and my bother also has the same mutations as me. My parents were relieved to find out what we had, as this explained why we were always sick. We were then put on colchicine. This relieved our stomach aches. Nevertheless, our joint inflammation persisted. We had lots of eye and jaw (teeth) inflammation as well.  We had swollen joints every week and we were always taking anti-inflammatory medications.

Once I had pain in my scrotum, so my parents took me to the doctor. The doctor checked me and said that I needed hernia surgery. I had the operation and all was good for a while. After a year, the same pain reoccurred. My mother took me to Emergency because the pain was so severe. At Emergency, the doctors informed me that I had a hernia, on the other side this time, and required an immediate operation. After the operation, the doctor informed my family that he had been wrong and it was all due to FMF, inflammation of the scrotum lining.

My brother’s and my joint inflammation didn’t improve with the anti-inflammatory medication and we were put on cortisone tablets, which initially worked. Unfortunately, now even the tablets don’t help. I now get cortisone injections directly in my swollen joints because nothing else helps. The doctor tried other medications via IV, but they caused me severe stomach ache. Nothing seems to work. Our joint inflammation is affecting our studies, we can’t participate in any sports activities and we have to endure severe pain.

Recently, we discovered the FMF & AID Global Association run by Mrs. Malena Vetterli. She is like an angel to us and is helping us a lot! One of the association’s volunteer doctors, Dr. Mendonça, reviewed our genetic tests and confirmed that my brother’s migraines and inability to sleep are most likely a result of the FMF. Furthermore, he added that my ADHD may also be a result of FMF.

Finally, I would like to tell everyone that FMF is ruining our lives and most doctors don’t seem to know how to help. We are in severe pain and can’t play or enjoy our childhood, nor can we study for our future. It is unbelievable that such a thing can happen in 2017!

Switzerland

My son started to have high fevers when he was 1 year old. Every 2-3 months, we would end up in Emergency. Other than this, he was a very normal child. When he was 3 years old, he started complaining that his legs and feet hurt. The doctor attributed this to growing pains. At the age of 5, he started having what the doctor diagnosed as asthma. When he turned 7, he started to have stomach aches but not very painful ones.

 

These mostly happened in the mornings. As soon as the pain was over, he used to run to school because he loved it! He was doing soccer, tennis and loved the outdoors! After he turned 10 years old, the pain increased in frequency and intensity. He started to miss school because of the pain, which was often accompanied by diarrhoea. Shortly after, he was screaming in excruciating pain! Most of the abdominal pain attacks used to come late at night.

I took my son many times to Emergency but nothing was ever done. All doctors seemed to have no clue. We saw doctors all over the country and even abroad but even the most experienced ones were at a loss. It was like our worst nightmare and there was no waking up from it.  It was actually by chance that my son got diagnosed with an autoinflammatory disease (FMF) by our family doctor, who had worked in many countries around the world and took a special interest in finding out what was wrong with him. On top of dealing with the disease itself, we had to waste so much energy and money fighting local authorities. No understanding whatsoever from the teachers, school director, school authorities, local hospitals, doctors who lacked the knowledge on rare diseases and how I wish I could forget child support services; it seemed they were all against us, out to get us.

My son and my whole family is still traumatised by what we went through. There is no cure for my son’s disease but he is doing so much better with the right medication. He is not bedridden like before but he still cannot have a normal life. On top of all the symptoms, the disease also affects his memory and concentration. Sports or any physical effort triggers a flare or pain attack. He hasn’t even been able to finish school. Our fight continues to get him disability.

United Kingdom

The journey for my 6 year old son began in February 2015, when I noticed the fevers were every 3-4 weeks. +40°C for 3-4 days. Paracetamol and Ibuprofen eventually worked after approx. 36 hours into the fever. He would complain of abdominal pain and or headaches, leg and knee pain, fatigue and have dark circles under his eyes. Our family doctor said it was a virus every time. The abdominal pain, headaches and leg pains and fatigue didn’t go away after the fever had gone. He persistently complained throughout the month and was having days off school on a regular basis. The doctor was not concerned. After 12 months and several trips to the doctor,

 

I convinced him to refer us to a Paediatrician. She was very understanding and stated from his symptoms, she thought he had a Periodic Fever Syndrome (PFS) and would refer him to a renowned London Children’s Hospital. Finally, 16 months later, we got the first appointment. From his symptoms, the rheumatologist at the hospital thought of PFS (possibly FMF), as my son’s paternal Great-Grandmother was Jewish. We were told that only the genetic tests could confirm this. She started him on colchicine twice a day and various blood tests were requested.

 

Unfortunately, the colchicine did not resolve his daytime symptoms and he had lots of gastric issues including diarrhea. This is when we discovered a support group on Facebook which put me in touch with the FMF & AID Global Association. They informed me about brand switching the colchicine and increasing the dose as per EULAR guidelines and recommended I give this information to my son’s doctor. Based on this information, my son’s doctor suggested we try other colchicine brands. The first one, reduced his fevers from 3-4 days to 2 days. However, he had severe diarrhea. Then we tried another brand that gave him fewer daytime symptoms and he has not yet had a fever.


Unfortunately, the blood samples sent for the genetic testing either went missing or the results were never reported to the London hospital. The rheumatologist has since changed her opinion and now believes it is more likely to be PFAPA than FMF. I questioned the change adding he wasn’t symptom free between fevers, never had rashes, sore throats or mouth ulcers. She wasn’t very happy at being challenged and made me feel like I had no clue what I was talking about. I am a Registered Nurse with 26 years of experience, who has researched PFS for the last year at least. I have recently stopped nursing as it was becoming increasingly more difficult to work as my son was regularly missing school. I have now got to arrange fresh genetic testing before the consultant will even consider any diseases. She asked to see my son in 8 months time and asked me to lower his colchicine dose. I again challenged her on his dosing as per the EULAR recommendations and she stated I shouldn’t ‘play around' with the dose as there is no definite diagnosis.

United States - Story 1

I am the mother of a two year old boy who has been diagnosed with Familial Mediterranean Fever. He became symptomatic within the first two months of life. For the first year, he experienced fever and rashes over his body three to four times a month. The doctors assured me he just had a viral illness, every month!!! I knew this could not be true. He looked healthy, so what could really be wrong?

Before his first birthday he started getting diarrhoea and began vomiting with episodes and was hospitalized on a few occasions with dehydration. He then developed ulcers on his tongue. After more hospitalizations, biopsies, and blood test were performed. He has now started having seizures, abdominal bloating, joint swelling and pain. It was a month before his second birthday that I received a call diagnosing him with Familial Mediterranean Fever. We were then scheduled an appointment with our rheumatologist to talk over the results. At our appointment, she gave us a prescription to help with the symptoms and instructed us to join a support group.

His symptoms are more severe than ever and his treatment with colchicine seems not to work. He only has one to three days of relief between flares. My son is a happy baby and does not appear to be in pain to the doctors. Pain is all my son has ever known. If I do not advocate for him, how will his voice ever be heard?! WE NEED HELP, WE NEED RELIEF, WE NEED AWARENESS. BREAK THE SILENCE. AUTO INFLAMMATORY DISEASES ARE REAL!

United States - Story 2

My daughter is two and half years old with undifferentiated Periodic Fever Syndrome (PFS).  When she was seven months old, she started having high fevers for 5 days with no other symptoms.  She would vomit when her fever would spike.  We saw several different doctors, who gave a diagnosis of a virus or sent us home with antibiotics, that did nothing for her, if she could even keep them down.  As time went on, my little girl’s symptoms have worsened; severe constipation and daily stomach pain, fevers lasting 5 days with vomiting, diarrhoea, joint pain and stomach pain so bad she refuses food or drinks lasting more than 8 days every 3-7 weeks.  Finally, we saw a doctor who did some blood tests and discovered she did not have a virus.  Her inflammation markers were extremely elevated.  Within days, we travelled to a Rheumatologist who did genetic testing and told us about auto-inflammatory diseases.

It was then that I decided to search for help online and found Malena with the FMF & AID Global Association.  She has been so knowledgeable and willing to help guide me through all of this.  My daughter started on colchicine a few months later and we saw improvement.  She was still having frequent high fevers and symptoms but her daily symptoms were relieved once on the proper dosage.  When her genetic tests came back negative and her symptoms during flares were getting more severe, her rheumatologist sent her for more evaluations: immunology, echo cardio, ultrasounds, x-rays, more blood tests, ophthalmologist and a nutritionist. 

 

The only thing of significance found was her high inflammation during fevers and she needed a Pneumovax vaccine.  Her flares have worsened with time and she has been hospitalized from dehydration during a flare and had to have IV fluids.  With her rheumatologists blessing, we applied and travelled to the National Institutes of Health (NIH).  She was finally diagnosed with an undifferentiated periodic fever syndrome. She recently started on a biological medication, which is only to be given to her during flares. Unfortunately, this has not really helped and we are currently awaiting approval for another longer lasting biological medication.

United States - Story 3

Though I was "sick" more often than the other children, my torturous abdominal attacks started when I was 14 years old. I was diagnosed with an array of conditions over a span of 17 years. Mostly stomach flu, food poisoning, a bird flu, Roda virus, Noro virus, Fibromyalgia, and just before my official diagnosis, I was being prepped to have a small bowel resection, at our local hospital, for Diverticulitis. Thankfully, my main doctor wanted me to get a second opinion before proceeding.

By this time, I was having weekly acute attacks and presence of blood in my stool, which really frightened my doctor. She gave me back my life by referring me to the Mayo Clinic. While I was at the Mayo Clinic, I saw a multitude of doctors. Toward the end of my time there, I had to have a test where I swallowed a camera pill. Amazingly, I had an acute attack (miraculously in the 4 hours test window of time). I was taken by ambulance to the main hospital where my white count jumped drastically from 6,000 the day before to 28,000 and then dropped to 3,000 the day following the attack! They were able to see first-hand the pain I experienced, despite a perfectly normal Camera Pill study, CatScans, Endoscopy, Colonoscopies etc. Thankfully, this attack led doctors to refer me to an Infectious Disease specialist who pinpointed my diagnosis. I will forever be thankful to Dr. Andrew Badley. He said they only see one to two cases of FMF per year at their clinic. (Which sees thousands of patients each year). Dr. Badley started me on Colchicine that very day, which was in 2005.

Three months later genetic testing concluded Familial Mediterranean Fever (FMF). I am certainly glad I did not give up on my many attempts to find an accurate diagnosis. When I was 18 years old and on my own, instead of partying and enjoying my college life, I was sick and spent most of my time in bed or in the hospital. I went to so many doctors to try to find answers, that I can't even tell you the number. I kept trying. Each time I was told I had Fibromyalgia. Even when I had a huge lymph node removed from my neck (age 22) that was "grossly enlarged', I was told I was fine. The Rheumatologist I saw just prior to going to Mayo Clinic in 2005 gave me an experience I will never forget. When I told him I would be going to Mayo's for a second opinion he harshly stated, "you can go to Mayo Clinic, you can go to Tim Buck too.....They will tell you what I am telling you. You have Fibromyalgia and you are fine!" After this statement, he stood up, slammed my chart shut, and walked out of the exam room leaving the nurse in the room, my mother and me completely stunned. This is a highly recognized, head of a very large Chicago hospital's Rheumatology department.

I have remained free of my acute flares, with the exception of three times, when I missed several doses of my Colchicine in a row. Going from weekly acute attacks to 3 in a span of twelve years (only because I missed my Colchicine) is amazing! I still have mild flares and I have learned what my triggers are. I do not want to think of what my life would be like, if I had remained undiagnosed or if I had not been able to obtain Colchicine.

I am a wife and mother of two children and a labour and delivery nurse. My daughter is 17 years old and my son is 15 years old. Thankfully, they do not show any signs of FMF. I am also thankful that I am now well and able to be here for them.

United States - Story 4

About 3 years ago, I started having really bad stomach pains. I went to Emergency and was rushed to have my appendix removed. About 3 weeks later, I started having bad stomach pains again.

During the past 3 years, I have visited numerous doctors and had over 189 emergency room visits. It has really taken a toll on my life, living with a pain that no one could work out why or how it started. I have had people tell me that I’m crazy, that it’s all in my head. People have called me a drug addict for wanting pain medication. My own friends didn’t believe me and my own doctors didn't believe the pain I was feeling. I would wake up in pain and sleep in pain.

Over the past few months, it has become so bad that my life is really affected by it and no one seems to be able to explain why. It is causing me to be depressed and giving me mood swings. So much so that I have even contemplated suicide several times. In fact, the only thing that has kept me alive is thinking of my family. As if this wasn’t bad enough I’m also an insulin depended diabetic, having to carry my meter and insulin around.

My own friends even thought I was a junkie, no one believes the pain I have day and night. I cry from it. I had to go twice a week to Emergency. The pain was so bad that I couldn’t do anything, not even move. I would take anything just to stop the pain for a few minutes.

I was misdiagnosed with Chron’s, Diverticulitis, IBS, but all results came back negative. I was put on numerous courses of antibiotics and other medications just to try and find something that worked. Then a friend, not one of the 86 or so different doctors that I visited over the past 3 years, recommended I take a genetic test. However, the doctor didn’t even call to tell me the results. I only got them from an employee at the Dr’s office, when I called in. The results were that I had an incurable rare disease and will have to take medication for the rest of my life, on top of my diabetes medicine. The name of the rare disease is FMF (Familial Mediterranean fever).

United States - Story 5

About 3 years ago, I started having really bad stomach pains. I went to Emergency and was rushed to have my appendix removed. About 3 weeks later, I started having bad stomach pains again.

During the past 3 years, I have visited numerous doctors and had nearly 200 emergency room visits. It has really taken a toll on my life, living with a pain that no one could work out why or how it started. I have had people tell me that I’m crazy, that it’s all in my head. People have called me a drug addict for wanting pain medication. My own friends didn’t believe me and my own doctors didn't believe the pain I was feeling. I would wake up in pain and sleep in pain.

Over the past few months, it has become so bad that my life is really affected by it and no one seems to be able to explain why. It is causing me to be depressed and giving me mood swings. So much so that I have even contemplated suicide several times. In fact, the only thing that has kept me alive is thinking of my family. As if this wasn’t bad enough, I’m also an insulin depended diabetic, having to carry my meter and insulin around.

My own friends even thought I was a junkie, no one believes the pain I have day and night. I cry from it. I had to go twice a week to Emergency. The pain was so bad that I couldn’t do anything, not even move. I would take anything just to stop the pain for a few minutes.

I was misdiagnosed with Chron’s, Diverticulitis, IBS, but all results came back negative. I was put on numerous courses of antibiotics and other medications just to try and find something that worked. Then a friend, not one of the ca. 90 different doctors that I visited over the past 3 years, recommended I take a genetic test. However, the doctor didn’t even call to tell me the results. I only got them from an employee at the Dr’s office, when I called in. The results were that I had an incurable rare disease and will have to take medication for the rest of my life, on top of my diabetes medicine. The name of the rare disease is FMF (Familial Mediterranean fever).

United States - Story 6

I’m a first generation American with ancestry from Southern Italy.  All four of my grandparents and my dad were born in Calabria.  I have had very infrequent symptoms of FMF since my early 30’s. Sudden high fevers (quickly reaching 103°F), rash (urticaria), flu-like achiness and swollen lymph nodes, generally diagnosed as atypical cellulitis for 30 years.  The frequency of the flares increased dramatically in 2013 with one flare ending after approximately 2 weeks, almost immediately followed by the onset of the next flare.  As I had skin melanoma (insitu) in 2004, I’ve been seeing a dermatologist 2-3 times per year for skin check-ups.  Due to the recurring skin rash, my dermatologist took my issue very seriously and assigned one of his then residents to my case in 2015.  I was told to contact her immediately by phone or email with updates on my situation as needed. Together, we began searching for a specific diagnosis.

 

The rash was biopsied on three different flares, and the result always came back as urticaria.  I was then asked to attend Grand Rounds for Florida West Coast Dermatology where my case was presented to 30-40 dermatologists and infectious disease specialists.  I subsequently had genetic testing and was officially diagnosed with FMF.  Since I had no evidence of amyloid protein issues, the dermatology resident treated the flare rash symptoms first with doxycycline, then steroids, and finally large doses of antihistamines, and I took over the counter drugs to reduce the high temperature.  Nothing worked and nothing preventive was prescribed.

 

This is when, out of sheer frustration with continued flares, and during one raging flare, I presented my situation to the FMF and AID Global Association, in particular, to Malena Vetterli.  She was kind enough to call me at home from Zurich, tell me in a rather directive voice to see a rheumatologist, and actually sent me journal articles to give to the rheumatologist at my first appointment, concerning FMF symptoms, diagnosis and treatment.

 

I’m now a regular patient of a rheumatologist, and he also had me see a hematologist.  The rheumatologist put me through a long series of blood tests, one of which detected monoclonal proteins.  He also started me on colchicine immediately at my first visit.  I now take 1.8 mg. of Mitigare daily.  I was his first FMF patient ever, but he was very interested in helping me and ruling out other potential illnesses as well.  The hematologist scheduled additional blood tests, and a bone marrow biopsy to rule out multiple myeloma.  Since starting the Mitigare 8 months ago, I’ve only had one flare, and the rash was a tiny fraction of its’ usual size… My temperature still hit 103°F but came back to normal in 24 hours without the usual struggle (cold showers, etc.).  The small rash began to dissipate within 24 hours rather than getting worse for 4-5 days before it would begin to settle down.  The flare while on the Mitigare was minimal compared to what I’d become accustomed to, over in about 3 days vs. 8-10 days.

 

Since I had the symptoms of high fever, urticaria, flu-like achiness, some swollen lymph nodes, and responded very positively to the Mitigare trial, I was again officially diagnosed with Familial Mediterranean Fever.  I continue to take 2 x 0.6 mg Mitigare at bedtime and 1 x 0.6 mg Mitigare each morning.

 

On another issue, my bone marrow biopsy clearly indicated that I have MGUS, which, is consistent with the presence of the monoclonal proteins detected in my blood work, and accompanies Schnitzler Syndrome.  This syndrome is apparently well known to be associated with MGUS, fever, urticaria, joint pain and swollen lymph nodes.  Schnitzler Syndrome now appears to be the next investigational topic on the horizon!

United States - Story 7

Watching your child suffer while watching doctors unsure of what to do is one of the worst experiences a parent can go through. Yet it happens everyday all over the World. Rare diseases are just that; Rare. Research and knowledge are limited and with funds being cut left and right, it makes you wonder if we will ever know what is wrong with our young child.

 

At just under 2 years old, my son started getting fevers. I would take him to the pediatrician’s office and always leave with a viral diagnosis because they could find no active infection. After the 5th consecutive month of appointments like this with some new lower back complaints from my 2-year-old, an ultrasound was ordered. After many diagnostic and scans, we found out he had Grade 4 Hydronephrosis due to Grade 4 Vesicoureteral Reflux in the left kidney. The kidney had suffered damage and was struggling to grow while the right kidney, we discovered, had a duplicated collecting system. OK, here is the answer. We start a treatment plan, yet the fevers continued coming each month. So, we decide surgery is the best option. Right after his 3rd birthday we stayed in the hospital for 4 days while my tiny child spent hours on the operating table. We thought life will be better for him and then BAM, one month later the dreaded fever, now coupled with mouth ulcers. At this point, our doctors started thinking outside the box and more specific labs were ordered. Results were shocking.

 

We spent the next year on a nonstop roller coaster ride of labs, sedated tests, surgeries, and imaging. I think we added up close to 200 doctor appointments in that one year alone. We flew across the country twice to see the best doctors and underwent extensive genetic testing. You would think we would have our answer by now. Sadly, we don’t. We have genetic data, yet we don’t have doctors with the knowledge to interpret it. We have tried several treatment plans including biologic injections topping out at $20,000 a piece and it still doesn’t cover all my child’s symptoms. His labs and test results still illicit tears and questions. Why is his little body so inflamed? Why have so many organs been affected by this disease? Why doesn’t anyone know how to help him?

 

All I want is a cure for my child and for him to go a full week pain free and away from a doctor’s office. My 4-year-old deserves a normal childhood and we will not stop fighting for him until we can achieve that. With research, I know we can get there.

Brazil - Story 1

Young doctor with chronic recurrent and excruciating abdominal pain, without fever and with fluid on the lungs. The episodes started at the age of 20 when he was a medical student and no specific treatment was started and no diagnosis was made. In the city where he lives, there is a lack of knowledge of autoinflammatory diseases. Three years later, he was finally diagnosed in a major city. After the diagnosis of Familial Mediterranean Fever (negative MEFV mutations), he started a battle to have painkillers and specialty drugs

Brazil - Story 2

A young girl with recurrent fever, skin rashes, arthritis, abdominal pain and bad moods since she was born. The episodes occur every time it's cold, which is very common in that region. She was treated for years as though it was an allergy and other diseases. Several years later, she finally had a clinical and genetic diagnosis of an autoinflammatory disease called FCAS (NLRP12). Now the battle has started to have the correct treatment.

Living with Behcet’s Disease by Cindy Todd

Greece

Γεια σας απο την Ελλαδα. εχω ΟΜΠ κ ειμαι γυναιικα 50 χρονων.

Τα συμπτωματα ξεκινησαν στην ηλικια των 7 ετων. ( ειχε υποστει η μητερα μου ολικη μαστε κτομη )και μετα απο πολλες εισαγωγες στα νοσοκομεια με την υπονοια της σκωληκοειδιτιδας, τα απεδωσαν σε ψυχολογικους παραγοντες. Κατοπιν, οταν το 1996 γεννησα την κορη μου, διεγνωσθη με εκτοπο κινητο νεφρο, οποτε δυσκολεψε παραπανω την διαγνωση.Περασαν χρονια με λαθος διαγνωσεις, λαθος θεραπειες, ψυχοθεραπειες ( αφου, ολα στο...μυαλο ειναι....με αρκετη δοση σαρκασμου το τονιζω, μιας κ θα το εχετε ακουσει πολλοι ) ηρθε η πολυποθητη διαγνωση. Ενιωσα ανακουφιση, παρολο που ηρθα αντιμετωπη με μια σπανια παθηση, μη ιασιμη ...Δεν ειναι ολα στο μυαλο λοιπον....

και εχεις ηδη υποστει τον αντικτυπο σε προσωπικο, οικογενειακο, κοινωνικο επιπεδο....

Καταρχην, μαθαινεις να ζεις με τον πονο...

προσωπικα, περασα σταδια απομονωσης,αντικοινωνικοτητας ( ειμαι κουραστικη πια για την οικογενεια,για τους φιλους μου, δεν θελω να με λυπουνται κ αλλα πολλα ) κ εν κατακλειδι,  καταθλιψης.

εχασα την δουλεια μου, την ζωη μου...μεγαλωσε η κορη μου βλεποντας με να πονω..κ τωρα με τον φοβο μηπως νοσησει κ η ιδια.

υπαρχουν ακομη φορες που λυγιζω,που δεν αντεχω πια... μα δεν παραιτουμαι...φοβαμαι ομως...οπως τοτε που οι κρισεις ηταν εφιαλτικα,  συχνες κ εντονες κ φοβομουν να κοιμηθω , μηπως ξυπνησω με φρικτους πονους, εμετους κ διαρροιες, ή αν θα μπορω να περπατησω....ή αν ο ωμος μου θα κουνιοταν...

φοβαμαι γιατι ακομη, γιατι προ διμηνου,  σε ασχημη κριση με ασθενοφορο στο νοσοκομειο γιατι ειχα λιποθυμησει κιολας, να αντιμετωπιζομαι με γλαυφυροτητα, ως υστερικη, να μη μου κανουν τις απαραιτητες εξετασεις ουτε καν καρδιογραφημα λεγοντας τους πως περασα περικαρδιτιδα κ ειχα κ τον πονο στο στηθος κ πλατη κ μουδιασμα στα ακρα, μα το απεδωσε ο γιατρος σε πιθανη γασστροοισοφαγικη παλινδρομηση, λεγοντας μου, πως εφοσων παιρνω κολγικινη, ειμαι καλυμενη, 

στα κεντρα πιστοποιησης αναπηριας εξεταζομαστε απο γιατρους αδαεις προς τις σπανιες παθησεις. εγω εχω αναπηρια 60% κ κανω οτι δουλεια μπορω να βρω για να επιβιωσω, ποσω μαλλον να φροντισω για την υγεια μου. Δυστυχως, οι δομες της δημοσιας υγειας καταρρεουν στην χωρα μου, λογω κρισης κ δυσκολευει ακομη περισσοτερο η κατασταση.

Δεν ειμαστε ουτε υστερικοι, ουτε κακομαθημενοι...τουναντιον...

Πασχουμε απο ΟΜΠ κ ζητουμε τις βασικες παροχες που στερουμαστε. Γιατρους εξιδικευμενους με σωστες κ εγκαιρες διαγνωσεις, εξετασεις κ θεραπειες κ προπαντων,  αντιμετωπιση με σεβασμο κ αξιοπρεπεια.

Θελω να ευχαριστησω απο καρδιας την Malena Vetterli για ολο αυτο το εγχειρημα που προυποθετει δυναμη ψυχης κ αγαπη, ( κ τα εχει σε..πλεονασμα ) ολους εσας που με ακουσατε κ θελω να θυμισω σε ολους μας, πως ειμαστε μαχητες θα διεκδικουμε τα αυτονοητα για ολους σε ολον τον κοσμο,  κ να ευχηθω υγεια, καλη δυναμη, συντροφικοτητα κ καλους αγωνες!.

Jordan

بدأت قصتنا مع المعاناه في عام 2015 وحينها لم يدر بخلدنا ان الامور ستسير نحو الاسوأ فالاردن بلد متميز في قطاعه الصحي وحدثت معنا امور متعدده وانتهت نهايات سعيده. استقيظ رشيد البالغ من العمر 9 سنوات ليلا وبدأ بالتقيؤ واستمر بشكل متواصل وكنا قد عدنا من رحله للبحر الميت في ذلك اليوم 9/3/2015 والذي اصبح يؤرخ في كافه المستشفيات والتقارير الطبيه وكأنه يوم ميلاد جديد لم نكن نتخيل وقتها ان هذا التاريخ لن ينسى وانه لم يكن يوما عاديا فقد كان تاريخا لبدايه المعاناه. انها نزله برد جهزي له الميرميه قلت لامه في صباح اليوم التالي لا بد انه كان مكتشفا ولم يلبس الملابس المناسبة. وذهبت انا للعمل وكان يوم سبت اي لن تذهب امه للمدرسه فهي عطله بطبيعه الحال وبقي رشيد نائما طوال الوقت ويستيقظ فقط ليتقيئ لم ندهب للطبيب وانما ذهبت به للصيدليه المجاوره بعد عودتي من العمل وفحصه وشخصه على التهاب في اللوز واعطاه العلاج مع مانع للتقيؤ. مع اخذ العلاج لم تتحسن الحاله وبقيت هكذا لخمسه ايام لم يذهب خلالها للمدرسه وكانت هذه اول مره يغيب لسبب مرضي عن المدرسه في صباح الاربعاء استقبظ رشيد وقد شفي تماما وكأنه لم يمرض اطلاقا فقلت لا بد ان المضاد الحيوي قد اخذ وقتا حتى تمت الاستجابه . وعاد رشيد للمدرسه بشكل طبيعي يلعب ويمرح وياكل وبعد اسبوعين عاد الحاله بنفس الطريقه استفراغ ونوم وهنا بدأت اتسأل ما الذي يحدث وبدأ الجفاف يظهر على ابنى فذهبت به هذه المره الى المستسفى العام وقلت لهم ان هذه هي المره الثانيه ولاحظ الطبيب الجفاف واعطاءه مغذي في الوريد لاول مره في حياته ولكن رشيد لم يكن يحس بالالم وقال الطبيب ان لديه التهابا معويا ويحتاج لبعض الراحه وايضا استمرت الحاله لخمسه ايام وعاد رشيد بعدها الى نشاطه المعتاد وكأن شيئا لم يكن. لغايه الان لم ينتابنا اي شعور بالخوف فقد تم علاجه بالمستشفى وكل شيئ يسير بشكل جيد. وبعد مرور اسبوعين او ثلاثه عادت نفس الحاله بنفس الطريقه والاعراض وكأن الزمن يعيد نفسه وهنا علمنا ان الامور لا تسير بالشكل الصحيح وذهبا الى العاصمه الى المستشفيات الخاصه ولم يبقى فحص الا تم عمله ولم نسمع بطبيب ذائع الصيت الى احضرناه او ذهبنا اليه وعرضنا عليه الحاله ومن فحص تلى فحص ومن تحليل الى تحليل ومن صوره الى صوره وانفقنا مبالغ طائله وح

 

وانفقنا مبالغ طائله واصبحت حاله رشيد تزداد سؤاءا وحيره للاطباء فالضغط العالي المرافق للحاله والذي يصل الى 160/130 ولم يتم ايجاد اي تفسير له سرعه نبضات القلب والتى تصل الى 156 نبضه اثناء النوبه وهو نام . بعض الاطباء قالو انها متلازمه التقيؤ الدوري وبعضهم قال انها شقيقه المعده وتلبعض الاخر قال انها مشاكل بالكلى وناخذ ادويه لهذه الامراض جميعها دون اي تحسن بل بالعكس تزداد الامور سوءا وبدت اعراض اخرى واصبحت الالام مبرحه جدا والصراخ يملأ اروقه المستشفيات والكل يقف عاجزا امام هذا التحدي. ناهيك عن عالتوقف عن الذهاب للمدرسه وتوقفي عن العمل لمتابعه الحاله وكأنه كابوس لا ينتهي ولكننا نؤمن بالله وبالابتلاء وقررنا الصمود والمتابعه ولم اتوقف يوما ولم يصبني اليأس واسئله رشيد لي تريد من صعوبه الامر لماذا انا ولما هذا الالم وصراخ وبكاء طوال الليل والنهار واصبحت الحاله تصل الى 20 يوما في الشهر واصابه ارتجاع بالمرئ من شده التقيؤ وقرحه بالمعده وتم اسئصال المراره بسبب التشخيص الخاطئ وتضيق شديد في فتحه الاثني عشر واصبح رشيد لا يقوى على الحركه نهائيا اثناء النوبات وبدأنا باعطاءه المهدئات القويه مثل الترمال والمورفين واصبح يحتاجها عند النوبات ولم يعد بمقدورنا عمل اي شيئ وكان قد مر على الحاله الان سبعه شهور ونحن نبحث عن تشخيص ولكن للاسف !؟ قررنا السفر به للخارج للبحث عن ماهيه المرض وفعلا سافر مع امه لمستشفى هداسا في القدس وعرضنه على الاطباء ولكن للاسف لم يتمكنو من تحديد هذا المرض المحير ، وعدنا مره اخرى للاردن وكان هنالك مستشفى متخصص للاطفال تابع للجيش يحتاج الى موافقات خاصه للدخول اليه واستطعنا بعد عناء ان نحضر كتابا لمعالجه رشيد في هذا المستشفى وتم ادخله وهو من المراكز المتقدمه جدا في الطب وفيه اطباء واجهزه متقدمه جدا على مستوى المنطقه وبدأنا من جديد باعاده الفحوصات والصور والاطباء من مختلف التخصصات حضرو لمعاينه هذه الحاله التى سمعو ان اشهر اطباء الاردن لم يستطيعوا تشخيصها وبدأت الايام تمر والحاله تزداد سوءا والفحوصات على قدم وساق ولكن بلا فائده وبدأت الملل يدخل للكوادر وبدوأ يحتجون ان رشيد يريد المورفين ويبكى لانه ادمن عليه وكنا احيانا نصدقهم وتم عرضه على اطباء نفسيين والذين اكدو انه بحاله جيده ولا يحتاج الى اطباء نفسيين ومر علينا 4 شهور في هذا المستشفى وبلا فائده واطلقوا على هذه الحاله مسمىchallenge case على صعيد اخر لم نترك شيخا ولا عرافا ولا اي ممن يدعون علاج المرضى ممن يشتهرون بالاردن الا وذهبنا اليه ولم يستطع احد مساعدتنا. ولما لم نجد اي فوائد من الطب والمستشفيات اوجدنا البديل في المنزل حيث جهزنا البيت من الناحيه الطبيه والمستلزمات واصبحنا نحضر له الممرضين ليقوموا بتركيب المغذي كلما اصابته النوبه بالاضافه الا انني اصبحت اعطيه ابر المسكنات والعلاجات بنفسي حيث اصبحت خبيرا طبيا واصبحت انا المرافق الدائم لرشيد فلم احب الذهاب الى العمل واترك ابني في هذه الحاله فقد ضاقت به الدنيا بما رحبت ولم يبقى له الا انا وامه نرعاه ونشعر بالامه . وبدات الايام تمر وندعو الله ان يفرج همنا وذهبنا للعمره ودعونا الله وبدأنا بزياده الصدقات بشكل كبير ليفرج الله همنا ومرت علينا سنه ونحن على نفس الحال ولكننا لم نفقد الامل

 

بالله. وبين الفينه والفينه كنا نسمع عن طبيب هنا او شيخ هناك ونذهب اليهم ولكن دون فائده. وطول هذا العام اصر احد الاطباء ان رشيد يعاني من حمى البحر الابيض المتوسط ووصف لنا الكوليشيسن وهذا الطبيب هو احد اعضاء اللجنه المشكله من قبل وزير الصحه فقد اخذنا تقريرا من المدينه الطبيه ومن القطاع الخاص ان رشيد بحاجه العلاج في الخارج الا ان هذا الطبيب رفض التوقيع واصر اننا فقط بحاجه للكولشيسن بالرغم من عدم وجود حراره وفحص الجينات سلبي وESR طبيعي و CRP ايضا طبيعي وكلما سنحت الفرصه لرشيد لاخذ الكوليشيسن ولكن المشكله كانت تكمن في عدم وجود بوادر للتحسن فقد استمرت النوبات الفظيعه والتقيؤ وخلافه. وكلما ذهبنا اليه كان يطلب بزياده الجرعه ولكن بدون اي استجابه. وفي هذه الاثناء وبعد ان سمعنا عن هذا المرض بدأت بالبحث عنه فلم نكن قد سمعنا عنه بعد ان تم استبعاده في بدايه الامر سواءا في القطاع العام او الخاص واثناء البحث وجدت مجموعه لهذا

 

المرض على الفيس بوك بدات بقراءه ما كتب على هذه المجموعه والتعليقات الموجوده ووجهت سؤلا للدكتور رامي عن حاله رشيد والذي قال انها لا تتوافق مع حالات FMF. ورغم عدم قناعتي بالكولشيسن وانه لم يفد ابني نهائيا الا ان امه كانت مقتنعه واخذت تصر وتحافظ على مواعيد العلاج وتلتزم بها. وحيث انني لم المس تغيرا كبيرا الذي اريده وكانت امه تشير الى بعض التحسن وانه ليس مثل العام الماضي كان لا بد من ايجاد طريقه لحل هذه المعضله وبدت بالتفكير جديا بالسفر لامريكا لحل هذه المشكله . في هذه الاثناء كتب احد الناشطين على المجموعه العربيه ان هنالك مجموعه اجنبيه لنفس المرض ووضع الرابط الخاص بها لمن اراد ان يتواصل معهم. وفعلا بدات بالتواصل مع تلك المجموعه مع السيده مالينا المسؤوله عن تلك المجموعه وشرحت لها الحاله وارسلت لها التقارير ووعدتني بمتابعه الحاله مع اطباء المجموعه لاخذ رأيهم في حاله ابني وايضا حدث خلاف بينهم حول التشخيص فلم يتفقو على شيئ معين الا ان احد الاطباء الدكتور مندوزا خالف الجميع وشخص الحاله بانها FMF like اي ان الحاله تشبه في اعراضها حمى البحر المتوسط ولكنها لا تستجيب للكوليشيسن colichicine resistance وان علاج هذه الحالات التي لاتستجيب للكولشيسين هو anakirna وهي ابر بيولوجيه تستخدم بشكل يومي وهو مكلف جدا يباع في الدول المتقدمه ب 4500 دولار وغير متوفر في بلادنا وغير مسجل سوى في الامارات والسعوديه.

 

وبعد ان تم التشاور مع جميع الاطباء المشرفين على حاله رشيد تم التوافق على نصيحه الدكتور مندوزا اخد اطباء السويسرين وهو طبيب المجوعه الدوليه لمساعده مرضى حمى البحر الابيض المتوسط وذلك وفقا لتجاربه وخبرته الواسعه في هذه الامراض والتى من خلال فهو الوحيد الذي يعود له الفضل بعد الله للتشخيص الدقيق لمرض رشيد بناءا على التقارير التي ارسلت من خلال السيده مالينا والتي كان لها الفضل الاكبر في مساعده ابني رشيد فهي لم تألو جهدا لتقديم المساعده والمتابعه والصبر واللطف في التعامل وايضا اوجدت لما متبرعين لهذا الدواء الباهظ الثمن حيث رتبت لنا عمليه ايصال هذا الدواء للاردن للبدء بتجربته كما انها هي التي قامت بالتواصل مع الاطباء الاردنين لاقناعهم بالتشخيص وساعدتنا بالتواصل مع الشركه المصنعة للدواء وهي لغاية هذا التاريخ تتبني قضية رشيد وتحاول تأمين الدواء له بشتى السبل والوسائل من خلال اقناع شركات الادويه بالتبرع بالدواء لابني وكذلك تحاول الاتصال مع الجهات الاردنيه لتذليل العقبات ونحن مستمرون على هذا الدواء منذ ثلاثة اشهر والنتائج مبهره لغاية الان.

Romania

Buna! Sunt din Romania si am un baietel de 2 ani si 10 luni. Perioadele lui febrile au inceput la varsta de 8 luni, la intervale de o luna sau doua, fiind deseori acompaniate cu amigdalita pultacee, febra tinand intre 3-4 zile. Nefiind o boala cunoscuta in Romania, am fost mereu tratati cu antibiotic desi am informat medicii ca am un nepot de 15 ani (baiatul sorei mele) care e suspect cu FMF, fiind un diagnostic clinic, dupa multe alte diagnostice, descoperit in final in Ungaria in urma cu 3 ani si tratat cu Colchicina. Medicii de aici din Romania ne-au spus ca nu se poate ca si baiatul meu sa aiba aceeasi boala, sotii nostri nefiind rude.

 

Asa ca am fost diagnosticati cu PFAPA si am inceput tratamentul cu Prednison, doza unica de soc 4-6 tablete in perioadele cu febra, baietelul simtindu-se foarte rau dupa ele, cu dureri de stomac, am ajuns in spital, unde dupa o serie de analize a reiesit un Amilod de 130( valoarea normala fiind <10), asa ca ne-au anuntat ca totusi nu poate fi PFAPA, ca e altceva, dupa care pur si simplu au renuntat la noi.

 

Dupa aceea am ajuns in Ungaria la medicul nepotului meu, in decembrie anul trecut, de atunci facem tratament cu Colchicina 1 tb/zi, in perioadele febrile crescand doza la 2 tb. In ultima perioada se plange foarte mult de dureri de burta, a avand constipatie 2-3 zile, dupa care diaree. Se plange de durere la orice atingere mai ferma, cum ar fi schimbatul imbracat, dezbracat. Este obosit tot timpul si fara chef de joaca. Nu am reusit sa facem testul genetic, pentru ca in Ungaria ar fi foarte scump, neavand domiciliul acolo. Va multumesc ca m-ati ascultat. Va doresc numai bine.

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