My Mom's Fight For Life: Relapsing Polychondritis

"Relapsing Poly....what???" That's exactly what we thought when Mom was diagnosed almost 2 years ago. And if you thought the same, you aren't alone. In fact, most doctors haven't heard of Relapsing Polychondritis (RP) either. 

RP is an incredibly rare, chronic, and often fatal autoimmune disease in which the immune system attacks the body's own cartilage as if it is a foreign body. "Cartilage? Like the stuff in joints?" Exactly! Except joints aren't the only locations where cartilage and other proteoglycan-rich structures are found. We all know cartilage is also located in the ears and nose, but it can also be found in the eyes, brain, trachea, bronchioles, kidneys, aorta and heart valves. "Rare? Exactly HOW rare?" Well, there are currently less than 200 patients fighting RP throughout the entire world. In fact, since its discovery almost a century ago, there have been less than 900 patients diagnosed to date. We all like to feel we're somehow special, but when it comes to the medical world, being "special" often means "difficult." 

(For more information about RP and it's affects on the body, please visit https://polychondritis.org/about-rp/ )

Mom, like most RP patients, had a difficult time leading to her diagnosis. In July 2015, Mom believed she merely twisted her ankle. Being an avid runner and weight lifter, she refused to let a little ankle pain slow her down. After running on a sore ankle for more than a month, Mom's doctor had to convince her to take a break and have an x-ray of her ankle. Sure enough, her ankle was broken. Despite extensive physical therapy, her ankle refused to heal. Believe it or not, it continued to deteriorate! Further imaging of her ankle showed  a complete loss of cartilage in the left ankle in addition to the still fractured bone. It was at this point that Mom's life would change forever. Her dream of ever running a marathon (or even walking normally) was instantly dashed. She literally hung up her running shoes and cried. 

It wasn't long after this crushing blow that Mom's wrist began hurting without warning. Lifting weights was instantly moved from her approved exercises to the growing list of restricted ones. Again, another giant loss for her physicality, her mobility, her freedom. Mom could no longer lift items as light as a pen, nor make simple formations with her hand, such as touching her thumb to her other fingers. As Mom jokes, she had lost the one distinct feature setting her apart from others in the animal kingdom....her opposable thumb! After many more months of imaging and occupational therapy, Mom went from tenosynovitis  to a tendon now sheared clear from the bone by sharp bone spurs and the lack of cushioning cartilage. She had gone from bad to much, much, much worse, and now permanently damaged. 

Without boring you with the list of MANY other orthopedic injuries, including worn out cartilage in various joints and an additional bone fracture to her left hip, and degeneration of her entire spine, it's safe to say that Mom's mobility and independence took a major hit.


With the mounting injuries came a constant state of inflammation in Mom's body. It is not only visible and palpable, but also detectable by bloodwork. Mom was sent on a wild goose chase by doctor after doctor, often by physicians who could not answer the questions posed by the confusing bloodwork. After nearly 4 years since Mom's first bone fracture, no less than 10 different doctors and specialists, and no more answers than she started with, she decided to take matters into her own hands. She called the Mayo Clinic in Rochester, Minnesota and they were so eager to see her that they requested she meet with a diagnostic team in less than a week's time!

Within minutes of meeting with her new team, Mom had something she never thought she'd hear: a diagnosis! RELAPSING POLYCHONDRITIS.  Great! Fantastic! Wonderfu.......wait, what? What the heck is that?!?! And, more importantly, how do you treat it? Throughout a week's worth of tests and exams from sunup to sundown, the week ended with a blessing: a treatment plan. See, because RP is so rare, there has never been any clinical trial to date to collect data or establish a recommended course of treatment. Even though Mom has a diagnosis, treatment is nothing more than a shot in the dark, a hit or miss attempt. 


As grateful as we are for Mom's hard-fought diagnosis received almost 2 years ago, she and her treatment team are still in the dark, unable to find a course of treatment that has any affect on her RP. She now has 3 treatment teams in 3 different states: Mayo Clinic, Rochester, Minnesota; National Institute of Health, Bethesda, Maryland; and various practitioners throughout the greater Chicagoland area consisting of Primary Care Physicians, Internal Medicine Specialists, Rheumatologists, Orthopedic Surgeons, Neurologists, Gastro-Intestional Specialists, Otolaryngologists, Cardiologists, Pulmonologists, Infectious Disease Specialists, Pain Management Specialists, Physical and Occupational Therapists, Psychiatrists, and Psychologists. She regularly has multiple doctor's visits weekly, often between 3-8 per week. 

At this point, Mom's mobility has taken a serious hit. The degeneration in her spine, hip, knee and ankle make the simplest movements impossible. She has gone from being able to walk small distances to requiring a cane at all times, soon to be a walker and then to a wheelchair. Besides the pain from those injuries, she is often out of breath due to damage to her trachea. Mom's trachea is inflamed and causes a complete blockage at times, causing her to gasp for air during exercise and while at rest. This will lead to an eventual permanent placement of a tracheostomy through which she will breathe. She has the typical inflammation and now degeneration of her nose and outer and inner ears (now requiring hearing aids) seen in RP. In addition to the less severe symptoms of RP, Mom has damage to 3 of her 4 heart valves. With the continued progression of her RP, her heart valves continue to deteriorate, eventually requiring valve replacement surgery. The most common causes of death associated with RP are from tracheal and/or cardiac valvular insufficiency, both of which Mom already suffers from.

But what about that treatment plan, you ask? Currently, Mom has been on a 7 month course of chemotherapy in hopes of obliterating her immune system in order to keep it from attacking her cartilage. As of now, despite changing dosages, medications, and combinations of medications,  her doctors have had no luck in finding the "magic bullet" that will control her case of RP. Some RP patients never get to the point of having trachial/pulmonary and/or cardiac involvement; Mom STARTED treatment at this point. She is very quickly running out of treatment options without ever having seen one benefit from the horrors of chemotherapy. As if this isn't reason enough to be discouraged, Mom continues to fight recurrent shingles infections every 2-3 weeks because she has no immune system to fight the virus. This only adds insult to her very real injuries. 

Against Mom's initial wishes, Allie, Andrew, Gabe and I persuaded her to allow us to conceive this fundraising campaign. We watch her daily as she attempts to hide her sadness and disappointment in the way her treatment has played out thus far. She tries so hard to not let us see her disheartened because she knows how hard we all try to make her life even just a bit easier. It kills her to know that she can't be the mom she has always wanted to be, the mom she WAS. It kills her even more to know that finances she earmarked for her children have now been exhausted on the payment of her medical bills with benefits yet to be seen. And it leaves her absolutely reeling at the thought of no longer being able to continue treatment due to lack of financing, only to leave this earth before seeing her children marry and maybe possibly meeting her grandchildren. One thing Mom taught us: family is everything. And family is everything to her.