I’m confident we will one day have a cure for cystic fibrosis

Note: This column describes the author’s own experiences with Trikafta (elexacaftor/tezacaftor/ivacaftor) and Orkambi (ivacaftor/lumacaftor). Not everyone will have the same response to treatment. Consult your doctor before starting or stopping a therapy.

Last Friday, I attended a Rare Disease Day event hosted by the National Institutes of Health (NIH) at its main campus in Bethesda, Maryland. As I sat in an auditorium watching a woman speak about how her infant son was cured of a rare disorder, I wondered what it will feel like when we finally cure cystic fibrosis (CF). I didn’t feel hopeful that CF may be cured one day; I felt certain that it would be.

I don’t think my hope and conviction are misplaced. I’m not saying it will be easy; curing genetic diseases is challenging stuff, something that existed only in science fiction just a generation ago. But researchers are making remarkable progress.

You might wonder where my confidence comes from. To understand where we’re headed, it helps to look back, particularly before the treatment Trikafta (elexacaftor/tezacaftor/ivacaftor) became available.

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Trikafta wasn’t the first CFTR modulator I tried. I had taken Orkambi (ivacaftor/lumacaftor) first, which was a letdown for me. It didn’t change my life much, other than slightly slowing the decline in my lung function. A couple of years prior, in 2012, Kalydeco (ivacaftor) had been approved for some people with CF, giving the rest of us hope that better drugs might become available for all CF patients, regardless of gene mutation. For me, Orkambi wasn’t that, but Trikafta was.

When I describe to others what my life was like before Trikafta, I almost don’t believe it myself. I find myself wondering, even doubting, how I handled hours of treatments and the frustrating exacerbations that would creep up every few months. The therapy isn’t perfect, and the side effects and remaining CF manifestations still negatively affect my quality of life, but the truth is that a drug like Trikafta was a faraway dream, even into the 2010s. And then it became reality.

Alas, the available CF medications are still far from sufficient. Many people don’t benefit from them or are ineligible for them. We still desperately need better treatment options, from antibiotics to modulators, and we must continue mitigating CF’s effects on the quality and longevity of life. Frankly, we still have a long way to go.

Demanding a better world for people with CF

While I’m convinced that CF will one day be cured, I also feel a bittersweet ache in my heart. Trikafta’s approval came upon a graveyard. So many people in the CF community fought, fundraised, advocated, lobbied, enrolled in clinical trials, and eventually died. So many, including my late sister, Alyssa, did not get to breathe more easily after years of suffering. This is the reality of commemorations like Rare Disease Day. They are both celebrations and memorials; hope and grief are two sides of the same coin.

But we will get there. Not solely because of hope, but because together, we are a force that demands it. I am confident because of the energy humming in that auditorium and throughout the world as people spoke last week about what it means to live with a rare disease.

We will get there because too many people refuse to give up on finding a cure. Science and medicine continue to advance, with researchers curing diseases that were once fatal. People continue to fight for and demand a better world. Tragically, many fight for a world they will never see.

This is what Rare Disease Day left me with: a reminder of the insurgent energy that flows through our rare disease communities.

I am not asking you to simply hope we’ll cure CF — I am asking you to stay committed to the fight.

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.