From time to time we invite guest bloggers who are part of the Emily’s Entourage (EE) community to contribute their unique voices to our blog. Today’s guest is Nicole Kohr, a 27-year-old double lung transplant recipient with nonsense mutations of Cystic Fibrosis.
Let me set the scene, I was a young child suffering through yet another respiratory infection. My stomach was huge, but the rest of my body was severely underdeveloped. The tissues shoved up my nostrils made my skin a beautiful shade of emergency room red. My fingers were clubbed. I coughed like a 90-year-old smoker, and no matter what I ate, it would result in me fainting on the toilet a few hours later. I was a hoot.
“The doctor is ready to see you now!” That was my mother’s cue to carry me into the next appointment, hoping that this doctor would finally listen to her for more than ten seconds. The notebook she carried around in her purse documented every single symptom I had ever experienced and food I had eaten. She had research articles and post-it notes galore. She was a real Erin Brockovich type. Still, people would roll their eyes at my 24-year-old mother’s plea for help. It is not uncommon for a new mother to panic about any symptom her child experiences, so most doctors assumed she was an overprotective and anxious young mother, especially because I was her first and only child.
If I could go back in time, I would tell her to trademark the phrase “Ma’am, your daughter just has a cold.” If she had, we would have been millionaires by 1995. But, my mother’s urgent tone stemmed from her intuitive sense that my caved-in chest and difficulty gaining weight despite an immense appetite were, in fact, not normal.
I ended up being diagnosed with two nonsense mutations of Cystic Fibrosis (CF) at the age of five by a talented pediatrician who finally listened to my mother. My mother licked my head and tasted the characteristic CF saltiness. The old medieval adage goes, “woe is the child who tastes salty from a kiss on the brow, for he is cursed, and soon must die.” My pediatrician concluded that I probably had CF. She was right.
Although we had finally received an accurate diagnosis for my symptoms, the struggle of not being truly heard did not end there. An anesthesiologist once made me endure an unsuccessful PICC (peripherally inserted central catheter) line placement with no anesthesia, despite my mother’s warning of me being a “hard stick” with IV placement. Co-workers and friends thought my use of “life-threatening illness” was a bit of a reach considering I looked perfectly healthy (#invisibleillness). Homecare nurses would “teach” me how to use a syringe even though I practically had my nursing degree at a young age. Community theater directors would ask if I really “had to sit down” every time I coughed, despite them receiving information about CF from my mother in advance. No matter how much “life with CF” experience we had on our side, these frequent examples of people not listening taught my mother and I early on that we had to be our own advocates in the medical space and everyday life.
In March 2019, my fiancé, my mother, and I were faced with a particularly difficult decision. We had been planning a Disney-themed wedding on June 1, 2019. At the time, I had only 20% lung function and required supplemental oxygen to breathe. At the end of March, I was evaluated for a double lung transplant due to my end-stage CF. By the end of May, with the wedding quickly approaching, the situation became dire. I needed the transplant urgently. We knew when we started planning the wedding that we had no intentions on canceling, even with my declining health. Our desire to carry on with the wedding as planned erupted into a fight with the doctors on what would be the best decision forward.
I will never forget one of my doctors saying, “You could get the call for new lungs the night before your wedding. If you delay your time on the list, you would miss the opportunity to get lungs.” I felt guilt-ridden, angry, anxious, and depressed. I felt like no matter what decision I made, I would be viewed as making the wrong one.
That was the turning point for me. I turned to my family, got an approving nod, and then explained to the doctor that if I have to stay in the hospital until I am healthy, then I may never leave the hospital and that was not a gamble I was willing to take. Sure enough, my husband and I were able to get married on June 1, 2019. It was the best day of my life. I then received my double lung transplant on June 14, 2019, which quickly became the second best day of my life.
The decision to pursue both the wedding and the transplant speaks volumes about my view on life. I have learned that sometimes, taking a stand, doing things on your own terms and speaking up, even when it goes against the grain, is the only way to make people listen. At the end of the day, you are your own best advocate and only you can determine the right way forward. For me, that meant finding a way to have my wedding and marry the love of my life, even in the most dire of circumstances.
These types of experiences, as well as my love for theater, inspired me to create my own original musical comedy about CF. An “Impact Grant” from The Cystic Fibrosis Foundation allowed me to write and produce the musical, “Fall Risk,” for which we already have over 700 subscribers.
I am excited to introduce the music to the public with the release of the “Fall Risk” concept album in 2021. One particularly exciting element of the musical is that we have opened up the auditions to include recording artists and musicians that have CF themselves.
“I believe deeply that everyone deserves their voice to be heard and I hope my work can be a platform to help achieve that important goal.”
In fact, that is why I am extremely thankful to organizations like Emily’s Entourage that believe that no matter a person’s genetic mutations, nobody with CF should be left behind. Not only have they created a research team that is spearheading life-saving research and drug development for everyone with CF, but they have given us, the CF nonsense mutation community, a platform on which we can be heard. And people are finally, really, listening.