A complicated reaction to the FDA’s expansion of CFTR modulators
A perspective from someone with rare CFTR mutations and transplanted lungs
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Five years ago, I got the call.
If you’re in the cystic fibrosis (CF) community and have had a double-lung transplant, you know the weight of those words. You know how the terror and the relief collapse into a single moment after you hang up the phone. You also know of the surgery, the recovery, the rejection scares, and the new normal that doesn’t feel normal for a long time after that call. And you know the lifetime of taking anti-rejection medication, visiting clinics, and checking your spirometry daily like other people check the weather.
I have CF with two rare mutations. In our community, rare carries a specific kind of loneliness. It means watching the extraordinary, hard-fought, landmark CFTR modulator era arrive, yet the door that everyone fought so hard to open didn’t open for you. My mutations wouldn’t respond to those treatments. I watched friends stabilize with Trikafta (elexacaftor/tezacaftor/ivacaftor) and their forced expiratory volume at one second measures climb on Facebook posts. Meanwhile, I went on the transplant list.
Questions without answers
I don’t say any of this to diminish what CFTR modulators have done. I was in waiting rooms with people who desperately needed them. I saw what the “before” looked like, and I know what the “after” means for so many of you. That fight matters.
But I’d be lying if I said that the recent U.S. Food and Drug Administration approval expansion of two therapies — Trikafta and Alyftrek (vanzacaftor/tezacaftor/deutivacaftor) — which extends CFTR modulator eligibility to approximately 95% of people with CF in the U.S. and includes hundreds of additional mutations, didn’t hit me somewhere complicated.
I don’t know yet if my specific mutations made the list. I’m still sitting with that, almost afraid to know. What I do know is the question that’s been living in my chest since I read the news: If a modulator had existed for my mutations, would I still have my original lungs?
That question doesn’t have an answer. My pulmonary decline was real. Perhaps transplant was always where my CF road was leading. But “maybe” leaves a lot of room for interpretation. In that room lives every “what-if” I’ve been carrying for five years.
Would the right drug have bought me more time? Would it have slowed the infections and eased the exacerbations that led me to transplant? Would I have skipped transplant entirely and kept the lungs I was born with? Would I have avoided the grief that comes with losing them, even when I’m grateful for what replaced them? Could I have avoided the new risks and side effects that come with transplant life?
I think about those in our community with rare mutations as they learn this recent news. Some are running the same calculations I once did; many hope their mutation made the cut. I hope it did, too. Above all, I hope fewer people will have to walk the road I did — not because it broke me, but because I know how hard it is and what it costs.
Our community understands better than most that gratitude and grief share the same room. Anyone who has lost a friend to this disease while celebrating their own encouraging scans knows that feeling. Anyone thriving on a modulator, knowing that someone else whose mutations didn’t respond, understands it, too. Complexity is woven into life with CF; we’ve never had the luxury of simple emotions.
Post-transplant life has its own version of that complexity. Every single day, I am grateful for my donor. This type of gratitude restructures me and sits differently than ordinary thankfulness. Yet I also grieve the timeline: the clinical trials I didn’t qualify for, the drugs that came a few years too late, and the version of my story that might have been written differently.
Both things are true, and I have stopped trying to pick one over the other.
Five years out from my transplant, my new lungs are still working. Each clinic visit, I show up. I’m still here, still part of a community that has held me up more times than I can count. The questions I can’t answer remain, yet I find that at least asking them becomes a little easier over time.
To anyone facing the decision I faced or who is watching the CFTR modulator landscape shift around their own rare mutations: I see you. The “what-ifs” are real, and so is the grief. Also, though, so is the hope — and the fact that we’re still here to feel it all.
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.
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