During CF Awareness Month, Emily’s Entourage invites members of the cystic fibrosis (CF) community to share their stories. Today’s blog post highlights the story of Amanda Boone, an adult with CF.

There are moments in life that leave an indelible mark on your soul. For me, one of those moments happened in the middle of the night when I took a deep breath for the first time in over a decade. It was the kind of breath you don’t realize you’ve been missing until you feel it again. At first, I was confused, unsure of what was happening, but the moment I recognized it for what it was—a full breath. I woke up my husband. He jolted awake, thinking something was seriously wrong, as we’d been living in survival mode for years. But no, this was good news! A life-changing moment.

Living with cystic fibrosis (CF) has been a constant rollercoaster for me. In my youth, I managed to stay relatively healthy, though still subject to the routine hospitalizations and treatments that come with this disease. I even climbed the corporate ladder, from leasing agent to property manager, while juggling the complexities of CF.

In many ways, I felt lucky. I had a thriving career, a wonderful marriage, and was able to maintain my health. But beneath the surface, I was always fighting—fighting to breathe, to stay healthy, and to keep moving forward in spite of my life expectancy.

When my husband and I decided to start a family, I was diagnosed with CF-related diabetes (CFRD) and was having lung bleeds regularly. After much deliberation, we opted to pursue IVF with a surrogate. We were fortunate enough to have a successful embryo transfer, and soon our son was on the way. But just as I began to hope for a brighter future, my health took a drastic turn for the worse. I contracted the flu in December 2014, and that was when things started to unravel. My lung function never fully recovered from that incident, and I found myself in a constant cycle of infections, lung bleeds, and fevers. By the time our son was born, I had to quit work due to my deteriorating health, relying heavily on family support to care for him.

Two years later, I sought a second opinion at National Jewish Health in Colorado. I was advised to move to Colorado for further treatment. Things only got worse from there. I was diagnosed with mycobacterium abscessus, a difficult-to-treat bacteria that can lead to rapid decline in lung function and mortality in CF, which required treatment with long-term IV antibiotics. My body was failing, and the prospect of a double lung transplant loomed over me. I was mentally and physically preparing for that possibility when, in October 2019, everything changed.

A breakthrough mutation-targeted therapy was approved. I had heard about it but never thought it would work for me. With one rare “nonsense” mutation, I was initially told that modulators wouldn’t help. But because my second mutation was a common mutation, I was eligible to try it. The therapy just needs to benefit one of your two mutations to be effective.

Four days after starting the new therapy I woke up in the middle of the night, took a deep breath, and measured my lung function. It had increased by ten percent!

In a matter of days, my body was responding in ways I hadn’t thought possible. I went for my transplant evaluation shortly after, and was told I did not need one. This mutation-targeted therapy was my lifeline.

While my health improved in ways I could never have imagined, I knew I wasn’t cured. My body had been through too much. I still needed treatments, still battled CF-related diabetes, and still faced the possibility of being hospitalized. But the progression of my disease had halted, and for the first time in years, I felt hope.

In the summer of 2023, while I was trying to regain my footing and live life with my newfound health, my world was once again shaken. I learned that my ‘lifeline’ mutation-targeted therapy was being reviewed by a state board due to its high cost and the possibility of a price cap being placed on the drug loomed. This meant that patients in Colorado would lose access to the medication if the board couldn’t come to an agreement with the drug manufacturer. The possibility of losing access to the medication that had saved my life was terrifying.

I immediately became involved in advocacy, attending board meetings and speaking with legislators. I knew we had mountains to move. I connected with other people with CF and caregivers, and together we formed a grassroots advocacy group, CF United. We worked tirelessly, writing letters, meeting with officials, and amplifying our voices. Our message was clear: This mutation-targeted therapy was more than just a medication; it was a saving grace, and we needed to protect our access to it.

The process was challenging, and at times it felt like we were speaking into the void. At one meeting, the board didn’t show up, and we were left to plead with government officials who seemed indifferent to our concerns. But we didn’t back down. The more we advocated, the more we saw the impact of our efforts. In December 2023, we received the news we had been fighting for: the board voted that the drug was “not unaffordable,” meaning the price cap would not be imposed. It felt like a victory, not just for me, but for the entire CF community in Colorado—and beyond. And none of it would have been possible without my renewed health that allowed me to show up fully.

But as we celebrated, I couldn’t ignore the other pressing reality: while I was one of the lucky ones who benefited from this therapy, many still cannot. These individuals are still waiting for their breakthrough treatment. I can not imagine being in their shoes. I empathize, because I remember what it was like. My advocacy isn’t just for those who have gained access to life-changing medications; it’s also for people like Emily and everyone in the final 10%. We can’t stop fighting until every person with CF has a lifesaving treatment option and full access to that treatment.

Auteur

Amanda Boone is an individual with cystic fibrosis and the co-founder of CF United, a grassroots organization ensuring affordable access to therapies for CF and rare disease patients. Amanda became a leading voice in protecting access—especially when her life saving medication faced affordability challenges through Colorado’s Prescription Drug Affordability Board. Amanda now uses her voice to make sure patients are heard, all while finding peace in rural Colorado with her husband, son, dogs, and horses. Amanda copes with her disease through laughter and realism.