What Is Relapsing Polychondritis?

Having a rare disease means we have already beaten the odds.

As an engineer, I am naturally inquisitive, possibly bordering on obsessive if you were to ask my husband. For the past three months since the tentative diagnosis of Relapsing Polychondritis (the cool kids call it RP), I have been spending every free moment educating myself on this rare condition. This is not easy as limited cases mean limited research; the information floating around the internet is often based on outdated studies or inadequate sample sizes, and everything one reads must be taken with a healthy dose of skepticism. Despite these challenges, I managed to comb through every individual case study, comprehensive analysis, and credibly-sourced webinar I could find within the first month of my diagnosis.

Adorable companion or floppy ear model with fur?

RP is a chronic, progressively degenerative disease of the body’s own immune system that causes inflammation and subsequent damage to the cartilaginous and proteoglycan-rich connective tissues throughout the body with no known cure. The most common manifestations occur in the ears, nose, trachea, ribcage, and eyes, but it can attack other organs with similar tissues including the cardiovascular and central nervous systems. It commonly causes arthritis, but unlike rheumatoid arthritis, it is not usually destructive to these joints. Over time, the inflammatory response breaks down the intricate cell matrices in the cartilage regions attacked and replaces them with a structurally inferior protein called fibrinogen. The results vary by location. In the outer cartilage of the ear, or pinna, this can look like cauliflower ear or, conversely, cause the ears to droop, depending on if the fibrinogen is thick and rigid or thin and weak. If the inner ear is affected, the symptoms can include vertigo, tinnitus, and eventually hearing loss as the delicate auditory structures degrade. In the nose, this can cause a deformity known as “saddle-nose”. In the larynx and trachea, it can cause stenosis or collapse, and airway involvement is one of the reasons for increased risk of mortality. Symptoms coincide with increased periods of inflammations called flares that can persist for months or years, but the disease can subside into a period of remission, sometimes on its own, but more commonly with appropriate treatment. Relapses are typical, though, and give the disease its name: Relapsing Polychondritis. Even between flares, undetected latent inflammation can continue to cause damage, making the condition progressively harmful and insidious.

My own symptoms are scattered across a variety of systems, some yet to be determined if they are connected or just a coincidence. In 2018, I experienced a bout of sudden vertigo that sent me to the emergency room convinced I was having a stroke. In that same ER visit, the workup uncovered a left bundle branch block, tachycardia, and a heart murmur with no obvious risk factors for heart disease. I began 2020 with a nervous breakdown in Hawaii that was eventually suspected to be a temporal lobe focal seizure, and only one of many I must have experienced over the past two decades. Rewind twenty years and the complete loss of cartilage in my right ankle following septic shock at the age of 23 looks more and more suspicious. At some point in the decade that followed, I began to experience brief swelling and stinging pain in my salivary glands, and not long after I began experiencing intermittent episodes of double vision. For years I have been annoyed by dry eyes, facial flushing, and tinnitus. Some time after the pandemic started, I noticed a cycle of burning eyes, sore throat, hoarseness, and overwhelming fatigue that would hit at the end of the work week, only to disappear after a good night’s sleep. Most of these recurring symptoms were brief, lasting only from a few minutes to a few hours, and easy to attribute to stress, lack of sleep, or some other excuse before moving on with my life.

The verdict is still out on how much of these are just the unrelated complaints of a practiced hypochondriac or if any of it can now be attributed to the early symptoms of brewing RP. Similar stories can be found among the general population of patients with this disorder. Some can even point to recurring ailments as far back as their childhood that seem to suddenly make sense within the scope of their diagnosis at long last. The broad spectrum of possible symptoms, their obnoxious habit of spontaneously remitting and relapsing, and the too common lack of knowledge across the medical community of rare diseases in general usually lead to a delay in diagnosis from the onset of the first symptoms. It is commonly suspected by experts who study RP that the disorder is woefully under-diagnosed, the product of a healthcare system that values cutting costs over thorough diagnostics and habitually labels complaining women as emotional or hysterical. When the initial symptom is not the bright red, painful ear that characterizes classic RP, the delay in diagnosis can last until the tell-tale ear presents itself; for some patients, this symptom never manifests at all. A study out of Japan in 2016 suggests a higher prevalence of cardiovascular involvement than previously thought; it is feasible that some patients only have cardiac involvement, but never receive a diagnosis of RP because it is not a commonly accepted culprit by the medical community.

Statistics on morbidity and mortality found online cannot be trusted, so if you are reading this worried you may have RP, know that the outlook is not as bleak as Buzzfeed would have you believe. An individual’s prognosis is entirely dependent on a number of unique factors. These include how early they received the diagnosis, the specific organ systems affected, the presence of concomitant diseases, the quality of care they receive, and their own lifestyle choices. My own experience so far has shown me that stress is the most powerful contributor to my symptoms and my own mindset is an incredible force to counteract this.

The National Institute of Health (NIH) in the US is an organization most of us don’t really know much about. They provide research funding to other entities, but they also boast their own cutting edge research hospital with state of the art facilities and lead the globe in research studies for rare diseases. They began to focus on Relapsing Polychondritis only a few years ago, an effort driven by a secret weapon in the RP community: an NIH physician and fellow RP patient named Dr. Marcela Ferrada. Since beginning their focused research, a more detailed understanding of the various manifestations, categories, contributing causes, and potential therapies have developed. There is debate over whether RP is truly autoimmune or an autoinflammatory disease  (read about their differences here), and some experts believe it is a form of small vessel vasculitis. About a third of RP patients also have another autoimmune disorder, the most common among these being Sjögren’s syndrome followed by vasculitis. RP isn’t considered hereditary, but there is a genetic link that may predispose patients to developing this or other similar autoimmune disorders.

I haven’t found a study that proposes a definitive cause for RP yet, but like other autoimmune conditions, it is likely a combination of factors with evidence of a triggering event. In my case, I suspect the severe illness I survived in my early twenties contributed, along with chronic stress, diet, and hormonal changes, culminating with a car accident last May that began the current spiral of systemic inflammation.

Facebook support groups are an under-valued resource!

Every patient has their own theory about what triggered their first symptoms, and infection is a common tale. Early on I found an online support group with other RP patients and this has been an invaluable resource far beyond the difficult-to-read clinical studies.

Finding out you have RP is similar to winning the lottery, if notably less fun. The prevalence varies slightly according to which study you read, but it’s generally accepted to be around 3.5 new cases per million people annually. I am sharing this only to offer a reminder to anyone who is recently diagnosed- having a rare disease means we have already beaten the odds, so none of the other statistics are important. We’re capable of anything and that is all that matters now.


Further reading if you’d like to learn more about Relapsing Polychondritis:

Relapsing polychondritis – About the Disease – Genetic and Rare Diseases Information Center (nih.gov)

Relapsing Polychondritis: An Updated Review (nih.gov)

Relapsing Polychondritis – NORD (National Organization for Rare Disorders) (rarediseases.org)

 

A New Journey Begins

“I suspect you may have a rare autoimmune disorder called Relapsing Polychondritis.” 

A funny thing happened this summer that has altered the course of my life from here on out.

It began in the middle of the night, attacking like an intruder in the dark while I was asleep and unable to discern reality from my dreams. A stabbing pain in my right ear brought me upright, but movement made it worse and my hand flew to my ear instinctively to protect it as I dropped back to the pillow in confusion. I held perfectly still, staring at the wall in terror, unable to turn my head or move my jaw to even call out for help to wake my husband. Fear welcomed the worst scenarios into my imagination- was this a stroke or an aneurysm? Was I dying?

The pain was not entirely unfamiliar. It was inside my ear, much like the searing throb of a severe ear infection, but larger somehow. When I touched the skin over the opening of the ear canal, the pain was instant and I retracted my hand as if scalded. I recalled sleeping on my ear wrong in the past and feeling something similar, though not as painful, and it was short-lived. I assumed this was the same thing, and was reassured when I woke in the morning to find the symptoms were gone. It occurred again the next night, lasting for a few hours, and again the night after. I let this continue for two weeks until the morning it did not go away and I suspected it must be an ear infection. I took ibuprofen and promised myself I’d stop by urgent care after work, but that evening the wait was four hours or longer. The helpful receptionist suggested an e-visit instead, and I filled out the online form to wait for a robot (I assume) doctor to respond while I remained in the waiting area. It did not take long, but the instructions were underwhelming. Take ibuprofen and see a doctor if symptoms persisted. I couldn’t wait four hours; my morning alarm would go off around 4am, so late nights are impossible. I went home instead and spent another sleepless night wishing I had just waited.

Morning again brought little relief and I felt dazed and foggy as I dragged myself to the car on little sleep and in agony. I was halfway to work when I realized I was having a focal seizure; I was aware and fully able to continue driving, but everything was eerily familiar down to the cars next to me and the thoughts and emotions in my head, and I was sure I had just dreamed it all recently. This passed in a few minutes, but it had been many months since my last focal seizure and the occurrence scared me. Not ten minutes later, I was struck with sudden vertigo and I took the exit for the hospital.

The emergency room doctor spent a few seconds checking my ears before announcing it was an infection in both the middle and outer right ear. She prescribed antibiotics and antibiotic drops. We both thought it odd that I had no sinus symptoms that might cause this, but a month earlier I had been swimming, however briefly, in the lake at my mother’s home. I couldn’t remember putting my head in the water, but maybe one of the kids had splashed me? We had our scapegoat for swimmer’s ear and were both satisfied.

The antibiotics helped immediately and I was content for about a week, but a day after finishing the last tablet, the pain was back with a vengeance. This was nuts! I thought. I made it through a pandemic without so much as a cold and now I can’t kick a common childhood ailment? I tried another e-visit, thinking I just needed more antibiotics, but again the robot doctor online refused to diagnose me and directed me to an urgent care near work instead.

I have a long list of unrelated aches and pains that have earned me the award for biggest hypochondriac in my extended family. The most recent among these had led me to demand a referral to a rheumatologist to uncover the cause of body-wide swelling, multiple aching joints, a random case of scleritis in one eye, and excruciating pain in my right shoulder blade that just wouldn’t leave after months of patient tolerance. Dr. Snell was unimpressed with the minimal bloodwork and x-rays she ordered, but I had a standing order to check labs for inflammation the next time I really began to hurt. With everything going on this morning, I decided to get the lab work before swinging by urgent care.

The hallmark of Relapsing Polychondritis is inflammation of the ear cartilage that stops just shy of the lobe.

The triage doctor was not very excited when he checked my ears this time and assured me I did not have an ear infection. I began an internet search of my symptoms while sitting in the waiting area for the next hour. My husband and I had a long weekend getaway planned in Vegas in a couple of days- our first real vacation since the pandemic had started- and my biggest concern was making sure I didn’t need to find antibiotics while I was out of town. When I was finally called back to be examined, the  physician looked in each ear and immediately prescribed more drops for swimmer’s ear. She gave me three minutes of her time, scoffing at me with a raised eyebrow when I asked if there were anything else it could be, before showing me the door. I began to feel better after more ibuprofen and drops, and decided to head in to work.

Within hours, I received a brief email from my doctor following up on the results of my bloodwork.

“I suspect you may have a rare autoimmune disorder called Relapsing Polychondritis.” 

I googled it and my stomach lurched. The ten year survival rate was estimated between 45% and 55%. The disease course can damage numerous organs,  resulting in blindness, deafness, a disfigured saddle nose, disfigured floppy ears, tracheal collapse, and often death when the respiratory or cardiovascular system is affected. I reread the email to make sure I was typing the name correctly. Surely a reputable physician wouldn’t just throw something that devastating into a two line email and write a prescription for prednisone without even a phone call. It seemed so absurd!

I texted my husband and he pulled up the same statistics, but we both agreed the doctor must be crazy. I don’t have a saddle nose (I double checked my profile with my phone camera, obviously) and my ears weren’t red. I just had pain inside my ear at night, more like a severe ear infection that comes and goes. It didn’t even really hurt during the daytime. That could be anything, right?

I picked up the prescription on my lunch break and headed back to work in a daze. The moderate 20 mg dose of prednisone kicked in quickly and I noticed within a couple of hours that the persistent swelling in my hands, a constant presence for months now, was reduced. By morning, all my joint pain was gone and I felt like a new person. Aches I previously attributed to growing older had disappeared, including two decades of progressively worsening back pain and a severe ache in my right shoulder that had grown unbearable in recent months. I spent a few minutes that day looking up symptoms in between work meetings and decided the rheumatologist was mistaken; out of pain and feeling the euphoric buzz of prednisone, I felt great and redirected my focus toward the first vacation we had taken since the pandemic hit 18 months earlier.

Four days in Las Vegas in August is not the ideal vacation for a woman who doesn’t gamble, enjoy the heat, or like shopping, but anywhere was better than continuing to spend every weekend at home. As I’m also partial to a good margarita next to an air-conditioned replica of a Venetian canal, I found the trip to be just what we needed to celebrate the end of an unvaccinated era.

Marveling at the beautiful indoor Vegas sky.

Our last night there, I noticed the prednisone wasn’t working as well, and the next day I felt generally miserable as my joints hurt and my muscles ached. My doctor had prescribed a standard tapering dosage, starting at 20 mg of prednisone and reducing this  by 5 mg every five days.  This was the first day on only 15 mg. It wasn’t until the plane was landing in Portland, though, that I really began to worry. The pressure change as we began the descent caused immediate stabbing pain in my right ear. Once on the ground, both ears began throbbing, a new symptom; what began as an ache akin to an ear infection spread to the cartilage in the ear canal, stopping just short of the visible auricular cartilage. This was the first time the onset of pain occurred in the daytime while upright instead of at night.

The next morning, the pain had spread to the cartilage behind my ears and I was faced with the hard truth that my rheumatologist may be right. I wanted to remain in denial, but everything I read pointed me back to the same conclusion: I have Relapsing Polychondritis. 

Three months later, I don’t yet know how this journey ends. Every new turn in the road usually begins that way, though. I don’t know if I’m ready for this one, but here we go.


Further reading if you’d like to learn more about Relapsing Polychondritis:

Relapsing polychondritis – About the Disease – Genetic and Rare Diseases Information Center (nih.gov)

Relapsing Polychondritis: An Updated Review (nih.gov)

Relapsing Polychondritis – NORD (National Organization for Rare Disorders) (rarediseases.org)

 

 

Things I Wish They’d Told Me

I gained valuable insights that I am eager to share with anyone considering a Taylor Spatial Frame or similar external fixator as an elective surgery.  In no particular order, here are a few things I learned along the way…

The countdown is on- today marks nine days left until they remove this thing from my foot.  I’m excited, but another part of me is scared and I know that I will miss this in some odd, difficult to explain way.  I have only a little over a week left to put the enormity of my lessons and experiences down in writing before it is over.  Over the last four and a half months, I gained valuable insights that I am eager to share with anyone considering a Taylor Spatial Frame or similar external fixator as an elective surgery.  In no particular order, here are a few things I learned along the way… Continue reading “Things I Wish They’d Told Me”

An End In Sight

I’m so close I can already feel the flip-flops between my toes.

My little cheerleaders watching over the procedure.
My little cheerleaders watching over the procedure.

It’s been ages since I’ve written, and for good reason!  In the past month, my medical drama has steadily become easier and now this foot has taken a back seat the rest of the struggles and triumphs and heartbreaks and heart explosions that are my life.

I emerged from the dark cloud of anxiety and physical misery caused by chemical withdrawal from the high dosage pain medication so gradually that it is difficult to pinpoint exactly the day I just felt like myself again.  I remember an afternoon when I looked up at the sky and felt like smiling from all the happiness and love in my heart, and I realized I was okay.  I returned to being a busy working mother and allowed my foot to stop taking center stage.  Four of the five children in our blended household started the fall soccer season and their schedule on top of my demanding work schedule left me very little time to

Replacing the struts with stationary bolts for the long haul.
Replacing the struts with stationary bolts for the long haul.

worry about which wire was hurting the most.  I began to feel almost normal again.

The next phase of my healing journey had now begun.  My foot was flat with no further adjustments needed and in the follow-up appointment to my last surgery, the doctor placed two threaded bolts on either side of the frame to keep it from accidentally moving if the strut dials were bumped.  In the next appointment a week later, she placed two more threaded bolts toward the front of the frame and removed the adjustable struts one by one.  The girls accompanied me to this appointment and were exceedingly helpful attendants as they attempted to pocket some of the spare parts, spent an inordinate amount of time captivated by the water cooler and spilling water on the exam room floor, and had everyone on either side of the privacy curtains laughing hysterically at their giggling antics.

Bone heals fastest when it is under pressure as this stimulates the use of calcium; this is why strength training is the primary measure to combat osteoporosis- strong muscles put tension on the

Placing threaded bolts between the foot plate and leg frame.
Placing threaded bolts between the foot plate and leg frame.

attachment points of each bone, stimulating bone growth and increasing bone density.  Low risk weight-bearing activities are therefore considered essential to promote healing in an external fixator.  While I have been in a weight-bearing status since very shortly after the initial surgery, it was difficult to do more than rest a portion of my weight on my toes as I was standing while my foot remained cocked at a 40° angle.

Five wires pass through the bones in my foot- two through the metatarsals near my toes, two through the calcaneous, and one through the talus.  These wires connect my foot to the flat plate situated parallel to the ground; as my foot swells and my toes bend, the tissue around these wires aches and stings at various points throughout each day.  I was fearful of putting all my weight on my foot as it seems counterintuitive to avoiding pain- at first glance, it appears that any weight will just cause the wires to rip right through my skin!  To assist me with overcoming this fear, Patrick procured a fancy cane for me with a glow-in-dark handle and a violet floral print.  Little Riley takes every opportunity to use it as a sword whenever we are out and about and I let go of it for

My flat foot wearing a modified sandals and ready to walk.
My flat foot wearing a modified sandal and ready to walk.

even a moment.  With all of the wires in the way, wearing a shoe on my right foot is all but impossible.  I was able to modify a pair of sandals by cutting away the center strap and adornments; I tied loops on either side of the frame to fit the top strap through in order to keep the sandal from sliding off my foot as I walk and the result is a remarkably functional right foot.

The only hiccup I have had in the past few weeks was an infection in the deep tissue which failed to respond to antibiotics.  As the swelling and pain worsened at the site of the top bolt in the front of my shin, I began to worry the infection was spreading into the bone.  After an overnight stay in the hospital on iv antibiotics didn’t produce much improvement, my surgeon decided simply to remove the bolt.

There is much discussion on the online forum I frequent for individuals dealing with frames such as mine regarding the best method for removing the hardware for these frames once our time in the cage is complete.  Many individuals are proponents of having the entire frame removed in the doctor’s office with the aid of some valium and nitrous oxide.  My surgeon does not offer this option and instead schedules an OR visit with general anesthesia for every frame removal.  The reason for this, she explained, is that the large pins are actually threaded bolts which have been drilled into the tibia and fibula and adhered with an epoxy which can make them difficult to remove without some struggle.  It was one of these bolts which had become infected, but as she would only be removing one, we decided it could be done very quickly in the office and I would recover from the trauma.

Having experienced the fairly simple and painless removal of a long wire which ran all the way through my leg from one side of the frame to the other, I felt confident I could endure a single bolt being unscrewed.  After all, it didn’t seem to go that deep, right?  I walked into the doctor’s office a little nervous, but eager to have it out, and asked her if she would be using any gas or anesthesia.  She explained that she would have to go all the way downstairs and it was a very quick procedure hardly worth the effort.  I relented.  I wish I hadn’t.  I sat on the exam table with my legs up as usual and she placed a rachet over the top of the bolt and put her left hand firmly over my shin to hold my leg still.  She was about to turn to the rachet, but paused and looked at me

Pay no attention to that pool of blood under my leg.
Pay no attention to that pool of blood under my leg.

squarely and advised, “You’re going to want to lay down for this.”  I did as commanded and was grateful the nurse was near as I let out a blood-curdling scream as she cranked the first turn.  The nurse at my side grabbed my hands and squeezed, and they both reminded me to breathe as I clenched my jaw whimpering and the bolt kept turning.  She told me it was out, but the pain continued and I lay sobbing with my arms over my eyes as blood poured out onto the table from the gaping hole in my leg.  She quickly stuffed it with gauze, then wiped at the gory mess all over my skin so she could wrap the top half of my shin with a self-adhering rolled bandage.

Eventually the pain subsided and she asked me to stand on it.  I did and the pain was noticeable, but not unbearable.  She loosened the nuts holding the threaded bolts in place and told me to slowly walk around with my cane to see how my ankle could withstand the pressure without the support of the frame.  I paced around the room for a few minutes and she seemed pleased.  She tightened the nuts back up and gave me directions to loosen the nuts three times a day to “dynamize” the frame.  If I had no significant adverse effects from this, I am to loosen the nuts entirely on October 5 and leave them, walking completely on my own without any hardware support.

The last bit of good news for me was that my ankle is so well-healed she set the date for my frame removal on October 26.  This would be two months sooner than she had led me to expect before the first surgery.  I won’t see her again until my last x-ray to confirm the frame can come off just a few days before the removal surgery.  From now until then, I just have to walk and heal as fast as I can.

I’m so close I can already feel the flip-flops between my toes.

 


 

Walking with a Taylor Spatial Frame

I’ve created a short video of myself walking for posterity.  Someday I will show this to my grandchildren who will think I am much cooler than they had supposed.  Or maybe they’ll say , “Who watches videos anymore, Granny?  Why isn’t it a holographic projection onto my eyeball?”  Snot-nosed little shits.