By Karla, United States, February 21, 2016
Hope: Living with Relapsing Polychondritis
By Karla Ramirez
One year ago this month my life changed forever. After several years of struggling with numerous seemingly disparate ailments, I was diagnosed with Relapsing Polychondritis (RP), an extremely rare, severe, progressive, non-curable autoimmune disease. With an incidence of only 3 per one million, only about 3,000 people in the United States have RP. It is so rare that most doctors have never heard of it. And the majority of rheumatologists, the doctors who treat RP and other autoimmune diseases, have never treated any patients with it, although they are probably familiar with RP from medical school.
Relapsing Polychondritis is defined as “a rare chronic disorder characterized by recurrent episodes of painful, destructive inflammation of the cartilage and other connective tissues in many organs”. It particularly affects the cartilage of the ears, nose, trachea, spine, and joints. The eyes, heart, lungs, kidneys and blood vessels can also be affected. RP can cause vasculitis and cranial nerve palsies. The disease can cause impaired hearing, vision and balance, arthritis, as well as severe and even fatal cardio-pulmonary complications.
There is no specific test for diagnosing Relapsing Polychondritis. It is diagnosed when a doctor recognizes a pattern of cartilage and other involvement indicative of the disease. Most RP patients take over three years to be diagnosed. There are no drugs to cure RP, and because the disease is so rare, there are no medical drug trials for RP. The course of the disease’s progression and its severity for each person with RP is unpredictable. The best one can hope for is to slow the progression of the disease, and in some cases, for periods of remission.
Oddly enough, after being sick for so long, my RP diagnosis came as a relief. I finally knew what was wrong with me. The pattern of my health problems suddenly made sense. But that sense of relief was short lived once the reality of RP began to sink in. The few older studies that were out there predicted dismal prognoses, with a five-year life expectancy of 65-75%, dropping to 55% at ten years, although some newer anecdotal studies show more promising outcomes.
Immediately following my diagnosis, I began the challenging task of assembling a team of doctors to perform baseline testing and monitor the progression of my disease. Try to imagine what its like when you have to explain your non-curable fatal disease to the doctor who is supposed to treat it, and because they have never heard of it, their ego causes them to immediately dismiss it. Trust me, this happens a lot, way more than it should. It took me a while to put together a team of doctors who made the cut. My current team consists of two rheumatologists, an otorhinolaryngologist, a pulmonologist, a cardiologist, two neurologists, a neuro-ophthamologist, ophthalmologist, two orthopedists, a gastroenterologist, a dermatologist and a primary care physician.
And I’m lucky, because once my rheumatologist diagnosed me, a second rheumatologist immediately confirmed my diagnosis, and my team of doctors have not questioned their findings. I belong to a Facebook group of folks from around the world with RP, and there are many who, like me, struggled for years to be diagnosed, only to have their diagnosis “taken away” by some arrogant doctor who saw them when they were not symptomatic and unilaterally declared they could not possibly have RP because it is too rare.
Living with an invisible illness is particularly challenging. To most people, I look perfectly healthy. Yes, my weight gain and facial changes might cause some who know me to think I’ve let myself go. Others might view my fatigue and pain as laziness or depression. But for the most part, I do not look sick. But I am very sick, and my body reminds me of that fact every single day.
My husband and I were fortunate enough to go on a Caribbean vacation last month. We stayed in a rustic villa on a pastoral windswept peninsula looking over a crescent shaped beach that was ironically named Hope. I literally spent a week lounging on the terrace, looking down at the beach, wondering if I could make the steep hike down to the shore and back. With ample time for reflection, the beach and the hike were very symbolic, because in many ways they represented the old me, and the new me.
The young, carefree me would have hiked down to the beach without a care in the world and barely a thing in her hands. I would have swum in the ocean, and even scuba dived from right off the beach. I would have let my slender body take in the sun without a thought about SPF factors. After a full day at the beach, I would have hiked effortlessly back up hill without pausing, other than to perhaps pick a flower or enjoy the view. After a quick shower, I would be full of energy for a night of dining and dancing under the stars. I was fearless, full of adventure and a free spirit.
After marrying and having a family, the mommy me would have made a full day outing of our private little beach. We would have packed a picnic lunch and the entire family would have trekked down to the beach, albeit with a lot more baggage than in my youth; loaded down with umbrellas, blankets, toys, changes of clothing, and plenty of sun block. It would have been a day that would form lasting family memories, building sand castles, exploring the beach from end to end, snorkeling with the kids, and gathering seashells. We would head back up to the house before the kids were too tired, so as to avoid any meltdowns, and spend the evening enjoying a home cooked meal and playing board games to the sounds of the tree frogs. I was a fun, happy mother and wife.
This trip, I sat alone on the terrace with my husband, wondering if I could, or if I should, make the hike down to the beach. I knew it would wear me out. I knew I might reinjure my ankle with cartilage and ligaments already damaged by RP. I knew I could no longer lie out in the sun, nor did I want anyone to see my overweight body. I knew I would be exhausted by the time I got down there; probably so much so that I would not even be able to enjoy the beach. And I honestly did not know if I could make it back up. And if I did, I did not know at what expense. I knew I would pay dearly one way or another. Oh how I missed the old me. No, how I mourned the old me.
My husband, ever supportive, gallantly offered to hike down to the beach to assess whether I could make the trek. Mind you, it’s only about a 15-minute walk. He came back and dutifully reported that the trail was poorly maintained, and that even he had almost slipped and hurt himself in a few places. He said the beach was covered with seaweed and nothing special, so it was not worth the effort. He did what good husbands do; he lied. He told me what I needed to hear so that I would not feel bad about the new me, and my new reality. I think I loved him just a little bit more for his little white lie.
So as we sat on the terrace enjoying the beautiful view of Hope Beach, I had a lot of time to reflect on my RP and my new life. I could choose to see the glass half full or half empty. I could easily feel bitter and sorry for myself. Or I could enjoy the moment and feel blessed. Rather that focusing on the negatives, I started to think about the positive ways that having RP has impacted my life over the past year. Having such a horrible disease certainly gives one pause for reflection. Over the past year, I have made a conscious decision to live more in the moment, and to be in a good place with the people I love and with myself.
Overlooking Hope, I came up with a list of what living with RP has taught me:
Cherish each day,
Set your limits,
Don’t judge others,
Practice random acts of kindness,
Tell people how you feel,
Know your true friends,
Don’t sweat the small stuff,
Conquer your fears,
Do what you love,
Nothing has to be perfect,
Appreciate the life you have,
Enjoy the little moments,
Accept your new reality
Embrace the new you,
Face your mortality,
Think about your legacy,
Don’t put off your dreams,
Live in the moment,
And most of all, do not give up on Hope.