Le rêve du jour : Un regard sur la vie avec la FK

From time to time we invite guest bloggers who are part of the EE community to contribute their unique voices to our blog. Today’s guest is Stacy Carmona, a lifelong CF advocate, motivational speaker and fundraiser from Southern California. As she recounts her own battles and struggles with CF, Stacy reminds us that hope, determination, and strength are no match for the rare, genetic disease.

My name is Stacy Carmona, I live in Southern California and I have Cystic Fibrosis (CF). Like Emily, I also have two nonsense mutations, which puts me in the small group of people with CF who do not currently have any life-changing medications available à nous

I was diagnosed with CF in the first few weeks of my life after I underwent surgery to remove half of my small intestine due to a blockage. My parents had never heard of cystic fibrosis and were devastated to learn that my life expectancy was less than 18 years old.

Growing up with this disease was incredibly challenging, to say the least. I was in and out of the hospital with lung infections, intestinal issues, and chronic sinus infections. Each year I would undergo sinus surgery, a bronchoscopy to clean out my lungs, and at least one long hospital stay which included weeks of IV antibiotics. I also had a difficult time maintaining my weight and had a weakened immune system which caused me to be more susceptible to infections.

At the age of 10, I was faced head-on with the true implications of CF, as I watched my only CF friend at the time lose her battle to this disease. That devastating loss was sadly only the first of many throughout my life. It has been immensely painful and scary to see friends with CF pass away each year and to be faced with the realities of this deadly disease. CF is like a wildfire; it leaves a path of destruction and devastation that seems impossible to control.

CF is like a wildfire; it leaves a path of destruction and devastation that seems impossible to control.

From an early age, I was determined to try and live as normal a life as I could and to not let my disease define me. Although CF consumes much of my time and energy, it has not stopped me from accomplishing my goals. I received a bachelor’s degree in communications from UC Santa Barbara; I lived abroad in Sydney, Australia; and I have been an advocate, motivational speaker and fundraiser for the CF community. I have devoted my career to helping others with CF, first working at the CF Foundation and now as the Director of Patient Advocacy at Kroger Specialty Pharmacy. In 2016, I married my husband Danny and we adopted our two dogs, Brady and Juliet.  

I feel my disease progressing and although I am grateful to be an adult with CF, it does come with its own set of complications. I have been diagnosed with CF liver disease and CF-related diabetes. I am growing some stubbornly resistant bacteria in my lungs that I have been unable to eradicate and I recently had my first scary experience with hemoptysis (coughing up blood). Today, I have less energy and require more sleep than ever before. I also have more frequent pulmonary exacerbations, which require stronger medications to treat them.   

But perhaps the most challenging aspect of living with CF is the daily litany of medications and therapies that I take to stay alive. Every day, I spend several hours taking breathing treatments, doing airway clearance, swallowing pills with every meal, exercising, testing my blood sugars and maintaining a high calorie diet. 

It feels like a full time job managing my care and there are certainly no vacation days with this job. I work dur to keep my lungs healthy and I am proud to say that I ran my first 10k this year.

I work dur to keep my lungs healthy and I am proud to say that I ran my first 10k this year.

For the past 13 years, I was involved in a clinical trial for a medication that was specifically designed for nonsense mutations. The scientific community had high hopes that this drug would benefit those of us with rare genetic mutations. Unfortunately, the trial was unsuccessful and was terminated last year. That is when the reality hit me that there is a significant gap in the drug development pipeline for people like Emily and me. There are currently no therapies in development for people with our type of mutation.

That is when the reality hit me that there is a significant gap in the drug development pipeline for people like Emily and me. There are currently no therapies in development for people with our type of mutation.

That’s why, when a clinical trial opportunity emerged at the University of Alabama last year, I dove in head first! It was only later that I learned that the trial was devised and supported by Emily’s Entourage. The hope was that a combination of medications, including one that was already approved for a different mutation of CF, could possibly be the key for nonsense mutations. Unfortunately, the results of that trial did not pan out as we had hoped.

Despite the disappointing results, it was through that trial that I ended up connecting with Emily, which was very meaningful to me, as we are among the minority of the CF population who share the unfortunate distinction of having two nonsense mutations. Getting to know Emily, who shares my passion and sense of urgency about finding an answer for this subset of the CF population, and, learning about the incredible work that she and her Entourage are doing, gives me hope for my future.

Getting to know Emily, who shares my passion and sense of urgency about finding an answer for this subset of the CF population, and, learning about the incredible work that she and her Entourage are doing, gives me hope for my future.

I am now 31 years old and although I have had my fair share of challenges with CF, I have also learned how to passionately appreciate life and not take a single breath for granted. I have been scuba diving in the Bahamas, eaten sushi in Japan, and gone skydiving over the Great Barrier Reef in Australia. 

I am a fighter and I live my life to the fullest. I have been lucky enough to see the best side of humanity as people have come together and committed their lives to helping those of us with CF. When I think about my future, it is still uncertain, but I will keep dreaming of the day when Emily and I can celebrate a cure for tous les personnes atteintes de FK.