Chronic lllness: Diagnosis

The chronic disease I have is called Familial Mediterranean Fever.  What follows is a narrative about how I was diagnosed and some general information about FMF.

Familial Mediterranean Fever is an autosomal-recessive genetic disorder characterized by periods of inflammation resulting in fever, joint and muscle pain, and often affects the abdomen and lungs.  FMF is mostly found in people of Mediterranean decent - hence the name.  AA-Amyloidosis is the most significant complication of an FMF diagnosis as there is a potential of organ failure, most notably affecting the kidneys, heart, liver and eyes.

Autosomal-recessive, what it means:

I spent Christmas of 2007 with my family and friends in Michigan and returned home to Arizona on January 1, 2008 - a Tuesday. I worked the rest of the week and developed flu-like symptoms on Friday.  By early Monday morning I was in the hospital having my first attack.  Just thinking about the pain of my first attack still takes my breath away.  I had a fever of 104, every joint in my hips, back and neck felt as if it was being crushed. My skin hurt and by the time I finally got to the ER I realized why: I had bruises everywhere my body had touched the couch, my bed and the kitchen floor (kitchen floor because I had resorted to laying on the hardwood because it the coldest place in my house).  My throat was so swollen I couldn’t talk and I struggled to breath.  I was diagnosed with viral meningitis.   This repeated every two to three weeks until September of 2010.  Eventually I started cycling downward, I wouldn’t recover from an attack before having the next one.  In essence I was having an attack 24/7.

Having read the description of an attack and the fact that I was in horrible pain 24/7, can you imagine trying to function?  Going to work? Spending time with your friends? Training?  No, not really.  Instantly, overnight, my priorities changed. I went from being concerned about my social status to wondering if I would have any quality of life ever again. 

Friends and family accused me of making up the disease in my head and, to be honest, I started to believe them. I saw my Primary Care Physician to make one last attempt at figuring out the cause of these fevers.  She asked if I ever ate raw meat as it can contain parasites that cause fevers and I explained that I had but I've been eating it since I was 2 years old. My Mom is Lebanese (Dad is Greek) and one of my favorite dishes, a Lebanese delicacy, is kibbie neyah - raw meat.  Towards the end of the appointment she said – and I will never EVER forget her words: “There’s a rare disease called Familial Mediterranean Fever that I’d like to do genetic testing for but I'd be really surprised if you have this disease”.  Then, in June 2008 she called me at work and explained I tested positive.  Had my rockstar doctor not have asked about the raw meat, I wouldn't have told her about my Middle-Eastern/Mediterranean heritage and chances are I would *never* have been diagnosed.

The usual drug protocol of .6 mg colchicine 2x a day was prescribed and it turns out I’m colchicine intolerant, not only does the drug not prevent attacks for me (like it does for so many other people) but I expereience really rough side effects.  Colchicine resistance only happens in 5-10% of people positive with FMF and I fell into that group. The odds of my situation are mind-boggling.  Approximately 15,000 people in the world have FMF, 5-10% are un-treatable, that makes the odds of me being in the position I'm in .....really small.

More to come...