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...

Weekend Update.

Because I have pretty long work hours and also some other evening commitments during the week, I - like a lot of working triathletes - double up workouts on the weekends.  This weekend went well. I got a little sick on Saturday so moved my long ride to Sunday, ended up chucking run intervals and a swim but there's not much I can do about that.

Accepting that I can't control when I'm going to feel well and when I get sick has been a big part of my recovery.  Sure, I have workouts planned but I always make my training plans with the understanding that things may get shifted around.  Specifically this weekend: Saturday was to be a long ride and swim and then Sunday I had some run intervals and another swim planned.  Like I said, Saturday was a wash. I had a fever of 102 and couldn't do much. I went back and forth on whether or not to go to the ER but I ended up just taking some pain meds at home and tried to sleep the ick away. I made up the long ride on Sunday and swam on Sunday.  So, I'm a swim and some run intervals down.  I'll probably be able to get the run intervals in tonight but I think the swim may be gone forever.

This is pretty much the norm - a constant shuffling around of workouts to adjust for times when I'm not feeling well/in the hospital.  I'm a super type-A, hyper-organized, planner carrying kind of girl so initially, I crumpled under the stress of beating myself up over missing workouts.  I'm done with that now....mostly because I'm stoked I get to train at all.

Chronic Athlete. I am.

Why Triathlon?  In 2004, I entered my first triathlon for the challenge. I started running in 2000 when I came  to Arizona to start undergrad at University of Arizona.  I moved from Michigan and I did *not* fit in.   I moved into my dorm (the name of which, Kaibab Huachuca, I could not even pronounce) wearing knee length shorts, tennis shoes and socks pulled up to my knees.  Let me just say this: I was very cool in Michigan. So, while I wasn't a great match for U of A, I found a home running in the mountains of Tucson, on the west side especially. Eventually, I fell in love with the city and began to call myself a runner.

I enjoyed running but craved a little more action so I decided to train for a triathlon.  I raced the Tucson Triathlon, it's a race that's surprising popular (Chris Lieto set the current course record and the Canadian National Team has been known to show up).  I thought it was fun, finishing in 1:34:19 (825 yd swim/12 mi bike/3 mi run) but I didn't really catch the racing bug.  I kept training and intended to race again...but I just never got around to registering for another race.

A few years later, when I got sick there was stretch of time when I wasn't sure if I'd ever feel better. At the time I had my first attack I had a pretty full life: work, go out with friends, date boys, obsess about everything I could.  I say "full" because I was busy not because I was satisfied.  In my head, I maintained a list of things to accomplish (change the world, cure cancer, normal overachiever things) my attitude was pretty lax...I figured I'd eventually get around to checking off these things.

And then, overnight, I thought I lost my opportunity to accomplish great things.  It hit me one day, lying on my couch - feeling awful and unable to do anything other than watch t.v. - that being sick could be all I have in life.  Instantly, I felt this deep ache in my chest. I felt grief. I grieved for all the things I intended to accomplish that would justify my life, to justify my reason for being on this Earth.  I grieved for my life that slipped through my hands.  Realizing I'd never race an Ironman or go to grad school hurt the most.

Eventually, being so sick, I lost my job.  It was inevitable.  And after enough time of being unemployed I called TriSports.com to see if they were hiring. I was not training, I was not registered for any races, I pretty much knew nothing about the sport and I was an absolute disaster. My hair was falling out due to the meds I was taking, I couldn't keep food down and I was still a frequent-flyer in the Emergency Room.  And TriSports.com hired me the next day.

I have said it before and I'll say it again: TriSports.com gave me my first, second chance (second chance #2 came last December).  The entire industry was so new and so exciting that I forgot about the shit-show that was my life.  I had something other than myself to focus on.  And then, I started training.

The TriSports.com employees often train together: Rides in the morning, runs at lunch, swims after work...so, one day I joined them and went for a little run. And then a swim. And a ride.  It wasn't pretty at the beginning, at all. We're talking 10 min/miles with some good old fashioned heaving and cramping so awful I fought to stay up-right (a side effect of the meds) but, I did it.

Every aspect of my life was constructed around being sick.  Everything I knew slipped away totally without my permission BUT, *I* decided to train. And, just the act of making that decision gave me a bit of control and my life back. I could define myself as something other than sick; once again - 8 years later - I started to call myself an athlete. I made friends in the community and then something totally unexpected happened: My coworkers and even some customers (the triathlon community is really small....and everyone knows everything) began to offer me amazing encouragement and acts of support.  They told me I was tough and that they were proud of me.  Slowly, I started to believe them and I added a third label: athlete, sick....and now, tough.

Things are different now. I have a list of everything I intend to accomplish written down on paper, taped in a place where I see it every day.  I know exactly what I need to do to achieve my goals - grad school and Ironman included.  I'm on track to getting these (and other) things done.  I will never 'get around' to doing anything ever again. I just f-ing do it.

I train and race because while I'm swimming, biking and running...I feel alive. When I am pushing myself beyond my limits I am in control of my life and filled with the most beautiful feeling of pain and the knowledge that I AM ALIVE.  At TriSports.com a co-worker and I once asked several of our customers: "Why do you do triathlon?"  9 of 10 said the exact same thing: Because I can eat whatever I want.  I think about this at every race when I'm standing at the water's edge, starting to get intimidated and I remember: my reason for being here kicks your reason's ass.


"If God invented marathons to keep people from doing anything more stupid, the triathlon must have taken Him completely by surprise" ~ PZ Pearce