So Where Did You Catch This Awful Disease?

When I first meet a new doctor, no matter his/her specialty, or the location we're meeting, I always introduce myself by my first name and begin my self-practiced dialogue.

Hi, My name is Jen. I have a rare autoimmune disease called Familial Mediterranean Fever.

It's at this stage most people either get a glazed look of 'Oh she thinks she's hot shit' or that deer in headlights look of 'oh holy crap -- what has just walked in here?'.

Most of the time it's late at night, the doctor on hand has genuine interest but no experience and they might actually resort to the 'I saw it in med school but I can't remember what I read' line.

My favourite, however, was one my most recent GP visits for Nephritis.

I introduced myself, began the dialogue and she interrupted me to ask:

So where did you catch this awful disease?

I expected as much, because, you see, this disease, in the Western World, at least, is under diagnosed, not diagnosed and therefore rare by all accounts. Medicine in Greece, Turkey and some Arabic countries is much more accustomed to this disease and treat it accordingly. Here it's a Scarlet Letter. Not A for Adultery but R for Rare.

And R for Rare is a bad, bad thing.

Doctors who are most likely saving your life are emergency doctors. They're trained to suspect and treat a myriad of disorders. Ranging from Anaphylaxis to Lupus Nephritis. But they don't tend to understand a genetic diseases, especially those they never actually studied.

Emergency doctors tend to read very little about immunology because they just want to know the quick fix to save your life, not keep you churning out Christmas cards each year.

And so when I drift in, most of the time I don't have a fever, there's no white cells in my urine, I'm dumping protein but I'm well enough to walk. I haven't thrown up and yet my body is crippled with arthritis. I'm in an immense amount of pain but my ANA is negative, I don't have a positive RF and I might not even have an elevated inflammatory marker.

By all accounts I'm ok-ish.

And yet something mysterious, something unseen, something unknown is ravaging my body and will cause consider hell for me for the next few weeks. Most of the time I was, and am, treated for a suspected kidney/uti infection, given antibiotics, and sent home.

That's how we discovered I'm allergic to Sulpha drugs. Bactrim, Trimethoprim, etc. I had my first kidney attack when I was 15. My parents tried to blame it on a STD but it was a bit odd because a) I was 15 b) I wasn't sexually active and c) I didn't have a positive STD test.

So they delayed treatment until my kidney abscessed.

It wasn't unexpected, really. I had always been a sick kid. If someone got a cold, I got the flu. Someone got a sore throat, I got strep. Chicken pox were worse than anyone's and I got Mono/Glandular Fever.

In fact, that Mono thing probably wasn't Mono. It was the FMF hitting and hitting hard. Because it was uncontrolled it had access to my kidneys.

After the kidney attack I developed GERD/reflux. I was diagnosed with anemia which they tried to explain was the cause of my fatigue.

Since menses began I would get the most gut-awful cramping and bleeding. The several OB/GYNs I saw all told my mother I needed a laparoscopy. But she declined. We would later find out there were adhesions there. Non-endo adhesions. I had my laparoscopy in 2003.

Adhesions, reflux, Mono, kidney attack, anemia, fatigue -- it's no wonder I was sick all the time. Something big,bigger than anyone knew, was waiting in the wings. And it was going to hit big.