One in a million: how two rare disease diagnoses transformed my life

I felt it then, and I can palpably feel it now when I reflect back on this time. Even though I had so many standing with my family and me, I felt so profoundly alone. A level of isolation I did not know existed.

I can remember often sitting in rooms with many people. No one ignored me or my obvious bald head, sunken eyes, and skinny frame. People often asked how I was feeling and authentically helped by showing up just to help with chores or bring dinner. Out of town family or friends wrote me countless cards, came to sit with me at chemo treatments, brought care packages, and overall everyone offered to help me with anything I could have requested. I wasn’t physically alone.

However, none of that took away the fact that I was facing my mortality surrounded by a sea of vibrance. There wasn’t anyone around me that looked like me. Like most people in their mid 20’s my piers were thriving. Apps on phones did not yet exist, and the ease at which we are now accustomed to sharing information and connecting wasn’t yet prevalent.

I thought that this second decade of my life would be a gentle ease into actual adulting. I had up until this point, enjoyed a life that had not been touched by hardship and while I was catapulted into a world of needles and barfing with new goals like “Stay Alive” and “Do Not Let Cancer Win” my contemporaries were joining Facebook and starting their new post-college careers. In fact, I often felt guilty because many of the people that did look like me were cancer patients and my funeral invites were mounting along with the wedding invitations. I didn’t have anyone around me that could really understand what I was going through, and better yet, I didn’t understand how to even express my needs. I didn’t know that the feelings I experienced were common, even normal.

If I would have had someone to talk to about their experience of going through chemotherapy in their 20’s, or being catapulted into menopause in their 20’s, that the mental thoughts I was having were expected, that my body would rebound; I might not have felt so isolated and out of place in my world.

There was a time early in my diagnosis that I signed up to speak to a Hodgkin’s patient in California. She told me on the phone that she wished she had died. That although she had survived, she could not find a way to adjust to a new normal.

I hung up the phone and realized if I was going to survive and be successful, all I could handle was 100% positivity. A despondent attitude wasn’t getting me across the finish line. From that point on, I decided that if a like-minded patient wasn’t available for me to connect with then, I could at least stay as positive as possible for myself and those around me. I knew the stats on attitude and gratitude as it related to healing. Therefore the choice to steadfastly believe in my cure was an easy one. For years after my treatments, my oncologist would ask me to come in and speak to patients because they recognized my behavior as I went through treatments and understood the value of hope and positivity as it’s delivered from someone that has walked in your shoes.

It seemed like an eternity from the time of diagnosis until my last chemo treatment. After the AVBD treatment, I would begin a ‘recovery” that would include dealing with side effects like menopause, sensory neuropathy, debilitating fatigue, digestive drama, and invisible mental struggles.

Nearly six years after my diagnosis and lots of chemo and several surgeries later, I sustained significant mental, physical, emotional, and spiritual transformations. I looked at this period in life as a huge learning lesson. Although it was hard, I could see the value in the struggle. I had come back from a low place, and I had survived. Running races and starting a new job at the Leukemia Lymphoma Society, I was beginning life at 31.

It was not too long after this time that I found myself in my apartment in Munich, Germany, with my laptop open again researching a new term. It was Reactive Arthritis. I had moved there to help with a European expansion of a business in which I was involved. Without much warning at all, one day, I noticed my hands becoming stiff. I had to run them under hot water in the mornings when I woke up in order to release the tight fist that had developed overnight. Then one day after the next, I couldn’t bend my right knee, it was swelling and getting bigger daily and soon the left knee followed. Soon thereafter, my wrists were stiff and unbending, my hands curled, both arms were limited to raising only inches, and before I knew it I couldn’t even dress myself or walk. This all happened within a few weeks.

Cancer and beating it taught me a resilience I didn’t know I had. I was born with a positive attitude, my mom often referred to me as Pollyanna. When I had cancer, I did learn that I could legitimately claim that I was eternally optimistic and strong-willed. That is a good feeling to have when going up against any adversity. We don’t know what we are truly made of until we have to dig deep and discover it. My late grandmother always taught me, “ The wound is the place that lets the light in.” I had lived this and accepted this lesson to be truth.

Then this new disease set in. I was painfully frustrated and quickly brought to my knees in every sense of the term. It is said that life will test your will either by doing nothing at all or giving you too much at once…the latter was the place I found myself in. I was in a foreign country facing symptoms that no one knew the cause of and that meant no one knew the worst case scenario. Did I have something life-threatening? Shuffling through language barriers, lack of mobility, limited independence, a lot of professional perplexed faces, and I quickly felt my anxieties swirling out of control.

It was immediately obvious to me that having cancer was much easier than this current illness I was experiencing. Doctors knew what was causing my illness before. Sure it might have been rare and deadly, but there was a plan, and the plan had a high success rate. This was completely different. I went from running a ½ marathon as an Honored Hero, to a doctor telling me I would never walk again and escorting me to the front desk with a perscription for a permanent handicap hangtag. Those events happened within eight weeks of each other.

Through many different lab tests, including genetic testing, I was found to be HLA-B27 positive. About 50 % of HLA- B27 carriers will get Reactive Arthritis. These new numbers get even rarer when considering that 6.1 % of the population carries the gene, and of those less than half will get will ever get a chronic Reactive Arthritis reaction, a higher percentage being women.

Nonetheless, I was one of them. I was given the option of taking biological shots forever that would suppress my immune system and a prescription for oxycodone.

These not only seemed like really bad choices. They seemed like deadly choices for me. I could not suppress my immune system when I had worked very hard to keep it strong. Commercials for these drugs say, “May Cause Lymphoma.” Who was taking a reading on my chances of contracting lymphoma from these drugs if I had already had it? I wasn’t taking chances on not being in the small percentage of those stats considering my current track record. I knew my current quality of life was poor, but I wouldn’t survive lymphoma again. Quality over quantity has always been my motto.

So, I read and researched. And if I felt lonely and isolated before this time, it was like I had been thrown into Siberia. The information was sparse, and in the world of autoimmune conditions, there really is no exact science. Through a lot of reading, research, and blessed intervention, I went from not being able to dress myself or walk, to teaching myself to walk again and eventually running and finally completing a triathlon. Along the way, the whole process was a mystery to all involved. The path to healing required tuning in and listening to my body, blind faith and A LOT of grit, willpower, and discipline.

It took me three years to go from that wheelchair to running a 5k again. In those three years, never one time did I speak with anyone that had this disease. Not only that, doctors themselves were not giving me hope of treatment much less a cure. I worked hard in every area of my life to stay strong, and it was by far the hardest battle I have ever fought. I fought against the guilt and burden I felt to those around me, and mainly, I fought against the idea that I could rest or relax. I feared that if I stopped before I was 100% back to “normal,” I might not be able to gain the momentum to keep going. Even as I could use one arm or begin to bend my legs, I was unsure of where the plateau would be, so I pushed onward. When I had shoulder surgery to repair my arm from the disease, my nurses or family would often find me with one arm in a sling using the other to brace myself against the couch while I tried to do squats. I didn’t want to lose the leg strength I had gained while my shoulder healed. My nurses often got very perturbed by this, but I also felt as if they respected my willpower- they too knew they had not ever seen my overall condition in another patient prior.

Going through those health issues alone was hard, and I am blessed to have made it. The way I take care of myself today and likely for the rest of my life will look different from other people. However, I gladly relish having the opportunity to live without pain, take care of myself without assistance. The overall personal growth and lessons I gained in the process have taken me down a path of ultimately experiencing greater fulfillment and life purpose. The knowledge I always believed to be powerful has proven to be something that has taught me how to live and obtain a better quality of life. My personal wish is that I haven’t missed a major lesson along the way.

Loneliness itself is a fact of human existence. The loneliness that often follows getting diagnosed with a serious medical illness can make this fact much worse.

When a dear friend of mine told me she was developing an app that would connect people, throughout the world who have been diagnosed with a rare disease; in order to share symptoms, strategies and hope I knew it would not just help people bond through the adversity but it would save lives. When life takes a detour into uncharted territory and the confusion and fear of reality sets in, having the presence of a global tribe of companions that are also seeking answers and support is welcomed blessing of relief knowing that at the very least you don’t have to go at this alone.

For roughly five years now, I have worked helping those struggling with illnesses through coaching, sharing, and teaching. I always knew that supporting and lifting one another up was a gift that I could give back to society after I gained my own health again. 

I will always feel humbled to have made it through two scary diagnoses. By navigating the labyrinth of uncommon ground that I found myself in, I know the importance of sharing the information I gained and how helpful and time-saving it can be to the overall quality of life. Of course, therapy groups, one-on-one counseling sessions, and social media aren’t outlets for everyone. The remedy that RareGuru provides to help patients and caregivers find a community where the unspoken feelings around illness are freely given a voice and where symptoms, thoughts, and ideas are shared is a tool that I support with open and thankful arms. I am looking forward to sharing, listening and connecting soon!!