Branching Out

Part of understanding and thereby accepting your life with rare disease is processing the stages of grief.

I think denial was a big part of my life for the first 10 months. I kept telling myself I wasn't going to get sick again. It was either major denial or some sort of major mash-up between denial and that sort of positive thinking.

It was a morning and evening chant: I will not flare again. I will not flare again. I will not flare again.

But it didn't work. And every time I did flare again I was caught out, unprepared, unready and mostly, un-accepting.

I'd get angry and rage and hate the world and hate my family and hate my body and hate me. I wasn't very pleasant to be around. Then the self-pity would arrive when I'd see how I was hurting those around me. They were hurting too.

It can't be easy to watch your wife or your mum struggle to the loo, to ask for help wiping and need help cutting her food.

But I hated it. I hated the impoverished way I was leading my life.

It was only sometime in the winter when I got past my most recent pleurisy attack that I realized I should actively plan these things.

Because, no matter how many times I tell myself I'm not going to flare again and that I'm leading a happy, healthy life, this thing is bigger than me.

It's so much bigger than me. It's so much deeper than me. It's in my veins, my blood, my dna. I cannot escape it as I cannot escape breathing or dreaming.

And so to plan for becoming ill is to accept.

I accept that ill health will happen and I owe it to those I love to prepare myself and them for it.

I think by allowing myself to accept that this is happening, that I am sick, that sometime in my future my kidneys will start to fail, I am more able to readily accept myself.

I used to rage against the fact my hands hurt. Stupid hands, I'd think. Other people can open jars, cook, chop, feed themselves. You're bloody worthless, you crappy hands, I'd think.

Now I can process that my hands are hurting and that it's ok. It's ok to take breaks, to admit that I can't do something and I think it's made me grow as a person. It's also opened up my independence into larger areas.

I can volunteer my talents but still ask for help. It doesn't make me weak or lesser, although some people would venture that it does.

Asking my husband to dish up my dinner used to drive me crazy. Now I see it as a nice way he can help. He doesn't mind, so why do I?

It also means accepting my fate, accepting my limitations and seeking help.

I've written to so many people over the past 6 weeks. All with the same resounding response. Nope.

No one in their community knows about FMF. But they'll post something in a newsletter.

No one in their lab has a need for someone with FMF. But they'll put my email in their database should the need arise.

No one is doing studies about FMF in the Pacific because FMF doesn't exist here. But they'll file away my contact details should the need arise.

I think they're all blind and foolish and would venture that if 1 in 200 people in affected communities shows signs of the disease then people in their communities should shows signs of the disease.

People cannot emmigrate from Turkey and Greece into new countries and NOT bring the disease. It's statistically improbable. 1 in 200 of those people DO have the disease and pass it on. It's the simple fact that we're not LOOKING for FMF that is limiting the disease.

I think my journey is limited here and I need to travel to find more resources and to meet people with FMF.

Facebook has been a blessing in that there are several FMF groups starting up with real, live actual people who exist. And these people have FMF.

And I've found that while we share symptoms, our diseases are different. Some were offered genetic tests straight away and are positive. Some respond incredibly well to Colchicine and some are so affected they are dying.

There is a new study opening up in Turkey for patients who do not respond to Colchicine. But you have to be able to travel to the clinic.

The entire world stands between me and that clinic.

But it doesn't hurt to send email after email looking for someone, anyone with FMF experience in the so-called Western World.

Maybe all of this legwork is part of the grieving process too. Maybe it means when I find someone with answers that it will mean so much more.

I was reading today that some Ancient Greeks believed that reincarnation was so vital to the continuance of souls that they refused to eat beans, for fear they were eating a relative or that someone would soon be eating them.

While I don't actively accept the bean theory, I do believe that there is someone out there who has experience with this and that it's just a matter of time before I find them. Perhaps not a continuance of souls, but more a continuance of story.

Keep your Mask on.

The title of this blog comes from an earlier encounter with a practice nurse. During the H1N1 strike here in the capital, I decided to go into the doctor to make sure I wasn't developing pneumonia, as is a common development when one has H1N1 and is on steroids.

I've had pneumonia in the past because of the steroids and it seemed like a good excused to open the wallet and let them strike.

My daughter and I were forced into face masks and into a side room. The nurse strides in, equally masked, and asks why we're there. As they always do, in that oh-so helpful voice.

Her: So what can I do to help you?
Me: My name is Jennifer and I have a rare disease called Familial Mediterranean Fever. I'm currently taking Prednisone and I'm worried I'm developing pneumonia as I have a lot of chest pains.

She gasps and moves dangerously quick across the room, recoiling in fear.

I realize she's terrified of catching this nasty, horrible disease and so I say: It's ok, I'm not contagious.

And I realize that I'm a freak and please G-d just let them give me some antibiotics so I don't get paraded through the circuit of wary eyes.

A doctor, gloved and masked, comes in and no, no pneumonia but please come back and refurnish our rooms, I mean, come back and see us if the pain remains.

It's lonely having a rare disease. People think it makes you feel special, makes you stand out. But it doesn't. It makes you look like a flake for being too tired to meet friends, makes you look like a hypochrondriac when your husband has to stay home and look after your child. It makes you look like a freak for wanting to have more children, as was your intent since you were 9 years old.

Rare is lonely. It's an empty feeling. No one understands the disease. People think you're contagious. Only a handful of doctors have read about it and most people think you have gout when you tell them you're taking colchicine.

I've found that you have to reach out more than recoil with your own embarrassment, your own shame. Reach out and annoy everyone you can.

Depression is common in rare disease patients. Being a guinea pig for people, the drugs, the diseases, the public reaction -- it all adds up. And it's lonely. I think the loneliness is one of the biggest causes of depression in rare disease patients.

You tend to sit on the sidelines, not by choice, but by simple actions of the disease itself, and you watch people have fun. Be well. Enjoy life. And you try, honestly you do, but sometimes the magnitude of being alone gets to you.

I've had a kidney infection/inflammation for more than 2 weeks now. I've been stuck at home, at the mercy of these achy bean shaped dictators, and it's lonely. I miss my life. I miss being active and engaging and I miss my brain working.

But most of all, I miss human contact. I wish there was someone else there that I could call and say, you know, this disease is getting me down. And they'd say, you know, I know. I get ya. Bastard disease.

And I'd agree, bastard disease. And we'd laugh and damn the disease and how bad we feel.

But for now it's just me and the myriad of emails I send asking people for any FMF articles they come across. Offering myself up as a guinea pig if it will just make me better. Or at least help me find a sympathetic shoulder.

It's been 13 months since my clinical diagnosis. I think you spend the first year struggling against your own feelings of a life sentence and it's after that critical first year you start to accept your fate and reach out.

"An invisible red thread connects those who are destined to meet regardless of time, place or circumstance. The thread may stretch or tangle, but it will never break." -Chinese proverb

Here's my end of the red thread. Now I just need to wait.

So, What does FMF Look Like?

The thing about Genetic Diseases is that you can actually look at and see the problem. You can't do a lot to fix the problem, as it's impossible to alter your own dna at home, but you can certainly look at those fancy little legs and wonder just what the hell went wrong.

I think this is a nice example of your different chromosomes:



You can see how any of those coloured areas can be altered, by chance, by fate, whatever you call it, to become shortened, lengthened, etc.

#16 is the gene in question here.

There's this atypical rash some FMF patients get and trying to find a picture of that was really hard until someone recently published one. But we don't really want to see rashes.

FMF, image wise, is elusive. There's no photos of spots, stripes, flames, fur or otherwise anything unique to mark people with FMF. Considering the regions where FMF is mostly found we might never see populations publishing themselves as FMF patients due to the respect they give modesty.

Which is a shame because I was really hoping you got like a turquoise tinge to your skin after a few years and people would be able to recognize you and tell you that you're going to get better. But it doesn't seem to be happening.

So, instead, you get little online cartoons to help aid students learning.

Like this one:



or this one:



And finally, this is a graphic aid used by some websites to explain how FMF travels as it's a recessive gene:



See that little pink girl. Yeah, that's me.

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.