CF treatments are miraculous, but what about rare mutations?

For many years, I’ve had to endure the ongoing praise for life-changing cystic fibrosis (CF) medications.

Let me explain. CFTR modulators like the most recently approved drug Trikafta (elexacaftor/tezacaftor/ivacaftor) have completely changed the way that many patients address the chronic challenges of CF. I’ve watched as CF patients on the lung transplant list bounce back to having stable health after being treated with Trikafta. Others have had explosive spikes in lung function that mirror normal lungs. And then there are those patients — like me — who remain in the 10% of the CF population whose genes do not qualify for the current miracle drugs because we have rare mutations.

While the miracle drugs aren’t a cure, they certainly resemble one. Several people with CF have experienced life-altering changes to their health. The medications have helped them to avoid having transplants, reversed their diabetic needs, and forced them to moderate what they eat for the first time in their lives. It’s truly been unlike any other CF medical intervention in the past.

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Please don’t get me wrong; I’m thrilled to see the progress that medical research has made in developing therapies for people with CF. It makes my heart so happy to see those who were desperately struggling have miraculous turnarounds with their lung function, gastrointestinal issues, and CF-related diabetes. It’s radical to witness those transformations in my dear friends and the community at large.

The tension for me lies in the overarching bittersweet tones I feel when celebrating my friends’ improved health. I’m disheartened, sad, and sorrowful that “not yet” remains the answer to “What about me?” It gets old after 37 years of being told that a cure is just around the corner. It’s so close that I can almost taste it, but also so far away that I don’t know when I’ll experience it. While I’m thankful that a double-lung transplant saved my life six years ago, that has come with its own laundry list of challenges.

This is the reason that I don’t keep up with the news. A healthy layer of self-preservation is necessary to endure this marathon. My eyes are focused on my own personal victories, rather than on being let down because my genes aren’t mainstream. I have to protect my mental stability and prevent discouragement.

I’m not usually one to complain or get discouraged. But it stings when people ask how the miracle drug is working for me. Conjuring up a response with a smile isn’t always easy. “The medications don’t target my specific genes,” I respond. The awkward silence that follows is deafening.

Focusing on what I can control

In my experience, various unique needs go unmet in the CF community simply because the masses take precedence. It’s understandable from a scientific standpoint to want to help the majority of the population. But for those of us who are left out of the equation, it’s hard to feel included when we’re sidelined simply because of rare genes.

Yes, you could say I’m a little salty (pun intended) that my genes aren’t aligned with the majority of the CF population. You could also say that I’ve relied on my inner fortitude to stay alive with a hearty dose of modern medicine and a whole lot of faith.

I’ve learned that my focus has to be on what I can control. I’m determined to fight for my life no matter the cost. Working to stay as healthy as possible mentally, emotionally, physically, and spiritually gives me the peace of mind that I’m doing my best, and that’s all I can do.

For those who want to support people like me, please don’t assume that everyone with CF is the same. Each of our journeys is different and marked by both unique complications and victories. Blanket statements and assumptions about health circumstances and statistics can be problematic. They send a message of unwarranted worry and prevent hope when hope is necessary.

I’m thankful that modern medicine saved my life. I’m also thankful that nonprofit organizations exist to help expedite ongoing research so that those of us in that 10% category can experience a miracle drug in our lifetimes, too.

Are you in the 10% group with rare CF mutations? Please share your thoughts in the comments below. 

Note: Cystic Fibrosis News Today is strictly a news and information website about the disease. It does not provide medical advice, diagnosis, or treatment. This content is not intended to be a substitute for professional medical advice, diagnosis, or treatment. Always seek the advice of your physician or other qualified health provider with any questions you may have regarding a medical condition. Never disregard professional medical advice or delay in seeking it because of something you have read on this website. The opinions expressed in this column are not those of Cystic Fibrosis News Today or its parent company, Bionews, and are intended to spark discussion about issues pertaining to cystic fibrosis.