Bittersweet Diagnosis and Living with "the other Arthritis"

Most diseases progress like this: diagnosis, treatment, cure. In my lifetime I sincerely hope to see that third and final stage happen for me and all the rest of my arthritic friends. Anyhow, getting the diagnosis is a big step for anyone. It's a little bittersweet because it involves feeling enormous relief ("Thank God! This thing has a name and I'm not the only one in the world to have experienced it!") followed by overwhelming helplessness ("There's no cure??...Wow, There's no cure - now what?!).

This helplessness is exacerbated by the fact that JRA is somewhat rare. Everyone has at least heard of diabetes and cancer, and even other diseases that are less common than JRA get a lot of publicity (Lupus, Parkinson's, etc.). With JRA and other lesser-known diseases, we have to explain ourselves to family and friends who want to know what's wrong with us. Explaining our condition is not so bad - I do like to spread awareness and generally respond to people with "I'm glad you asked!", followed by my launching into an explanation.

Complications arise when people have misconceptions about the disease, however. JRA and (the adult form) RA are NOT the same as the arthritis your 90-year-old grandmother has. No offense to grandma. I'm not knocking her condition. But what she has (more than likely) is osteoarthritis (OA), brought on by the wear-and-tear of joints from many years of use. OA is the most common form of arthritis and when elderly people suffer from stiff and painful joints, OA is usually what is behind it. Many medications, like Tylenol and Aleve, are a big help to these folks. Their pain is very real, but at the risk of repeating myself I have to emphasize that it is not the same as Rheumatoid Arthritis.

Actually, the word "arthritis" in the name is truly a misnomer, and many are calling for a name change that will reflect the disease's true characteristics. A friend of mine has suggested "RAID", to stand for "Rheumatoid Autoimmune Disease". I like it and I kinda hope it catches on! :D As long as "arthritis" is in the name, many people will confuse it with osteoarthritis. I can't tell you how many times I've heard people say "Oh, my grandma has that! You're way too young to have that!". I smile sweetly while in my mind I'm frustrated. I explain that autoimmune diseases do not discriminate - they attack people of all ages, genders and ethnicities. They attack organs, tissues, joints, blood vessels. They require lifelong treatments that can be very dangerous in and of themselves (more on that later).

Now for a real definition, finally: JRA and its adult cohort RA are autoimmune diseases characterized by inflammation of the synovial lining of multiple joints. Inflammation is the cause of those red and swollen joints I was describing in the previous post. What happens is that the body's immune system goes haywire. The same immune system that helps us fight off colds and infections gets confused. It starts attacking the lining of the joints, in this case, and sees it as a foreign object. Yep, you read that right: the body attacks itself! A very similar process occurs in other autoimmune diseases, in which an overactive immune system turns on the body and attacks healthy tissue and bodily organs. Heart, lungs, kidneys, you name it - there is an autoimmune disease for them all. One example is Type 1 diabetes, also known as autoimmune diabetes, which attacks healthy pancreas cells in children (so, so heartbreaking!!).

This is probably a good time for some perspective, and numbers help with that. RA affects approximately 1.3 million Americans (that's about 1% of the U.S. population), and I've already mentioned the 300,000 children with JRA (under the age of 18). The cause is unknown, but scientists have isolated genetic markers that are associated with RA. With this genetic predisposition, all that is needed is something to trigger the disease. Physical or emotional trauma can set the disease in motion, as well as a virus or bacteria. Even smoking can be a trigger (one more reason to quit, readers!). The idea is that the body's immune system starts to attack the virus, or the carcinogens from the cigarettes, or the body moves to correct an injury after a car accident...and after it's attacked the bad "stuff" (enough technical terminology going on here!) it just doesn't know when to stop. It turns on healthy "stuff" and the rest as they say is history. The Arthritis Foundation has a nice description on their website, if you're interested. Visit arthritis.org and click on 'who gets RA?".

What triggered my JRA at such a young age? I had choked on some carrots a few weeks before I first woke up with swollen knees. The doctors had to do an emergency broncoscopy on me - basically sucking all the little carrot pieces out of my throat and lungs - and we believe that this surgery was the physical trauma that set off the disease. Crazy, huh? To this day, whenever I feel myself start to choke on carrots, I can't help but smile. What's even crazier is that many with the genetic markers for RA never get it, and and not all people with RA have those genetic markers. Like I said, the cause is unknown and much more research needs to be done.

JRA: Juggling Radical Ailments

I'm not sure what a "normal" childhood is supposed to be, but I'm certain I didn't have one. And so much the better! Juggling radical ailments in addition to the minefields of a typical childhood made things interesting. I not only grew up much faster than my peers but also learned to appreciate the blessings in my life very early on - two wonderful parents, a happy home, a loyal dog, and an excellent education, among others.

My journey with JRA began when I was 18 months old and will follow me forever. I had been walking just fine at that age, when one morning I woke up with knees that were swollen, red, and painful. My mom tells me that I crawled into the kitchen, mostly using my arms, sobbing in pain. My knees were more than twice their normal size and it was clear that something was very wrong. You can imagine how this would make any mother feel, of course. Here was her only child, healthy and happy just yesterday, in agonizing pain that she couldn't eradicate.

Pediatricians weren't much help. They suspected that I had been abused, or was having a bizarre allergic reaction to something (even after negative allergy tests disproved this theory). My parents were determined to get a diagnosis for me, however, and would stop at nothing. It helped that both of them were in the medical field - my dad was a cardiologist and my mom an EKG technician - and so they knew the sooner I got care, the better.

The orthopedist did x-rays, an MRI, all that fun stuff, and quickly realized that I needed to see a rheumatologist...which was much easier said than done. There is a terrible shortage of pediatric rheumatologists in the U.S., and the waiting lists to see these specialists are ridiculously long. We waited a couple months, and that was a short time. In fact I think it would be easier to get 5 minutes with the President than with a pediatric rheumy as a new patient. (From here on out, by the way, I'll refer to my doctor as a rheumy. Makes for a nice abbreviation.)

By the time I saw this rheumy, my symptoms had gotten worse. Now the joints in my fingers and toes were red and swollen as well as my knees. Looking back, I realize it was a blessing in disguise - my symptoms looked very "textbook", and my blood tests matched them. Diagnosis: Juvenile Rheumatoid Arthritis, also known as JRA. The more specific diagnosis was Polyarticular Juvenile Rheumatoid Arthritis, to give you a real mouthful. This name was just fancy doctor-speak for "more than 5 joints affected".

Today, the disease is known as Juvenile Idiopathic Arthritis, or JIA. The distinction isn't all that significant, but it does make one aspect of the disease quite clear: there is no known cause. Lots of studies have been done to look for a definite cause, but the word "idiopathic" means that a cause cannot be pinned down. Some studies emphasize a genetic component, others an environmental one, and still others some combination of both. At any rate there is no definite cause and, more importantly, no cure for the 300,000 children in the country with JRA.