With my nonsense mutations, Alyftrek offers new hope

Finally, there's an approved modulator that applies to my specific type of CF

by William Ryan | January 9, 2025

As a proud son of New Jersey who’s married to a woman who’s half Italian, I’ve found that fresh mozzarella is a key to happiness in life. I’ve never had a bad day when I’m eating said cheese. I could give you recommendations for the best mozzarella in northern New Jersey if you’re ever looking to visit. It’s a breath of fresh air.

Speaking of which:

On Dec. 20, my wife and I were eating dinner with mozzarella when the Cystic Fibrosis Foundation (CFF) announced that a new cystic fibrosis (CF) modulator, Alyftrek (vanzacaftor/tezacaftor/deutivacaftor), was approved by the U.S. Food and Drug Administration and would soon be hitting the market. While stuffing my face with fresh mozzarella, I said, “Oh, nice! That’s cool. Good for whoever can take it.” We called my mother, who was happy to hear the news.

The CFF and Vertex Pharmaceuticals, the company that’s been working on CF modulators for years, have focused on developing a modulator for the roughly 10% of people with CF who have nonsense mutations and thus aren’t able to take modulators such as Trikafta (elexacaftor/tezacaftor/ivacaftor), which have benefited roughly 90% of the CF population.

FDA expands Trikafta approval for 94 more CFTR gene mutations

I didn’t think I’d qualify for any CF modulator, even though I knew modulators for people like me were in phases of trials. I almost took part in one last year, but because I was sick so often, it didn’t work out.

The funny thing about me having a gut instinct is that my guts don’t always work the way I want them to because of my CF.

“You know what? Out of curiosity, I’ll just take a look and see if it lists the mutations,” I said to my wife. After about 10 seconds of darting my eyes across a chart, I saw one of my mutations: R560T. That’s half of the mutations responsible for the disease that I’ve endured for all of my life.

My wife cried. Mom cried. Dad, who was busy working at the time, called me crying.

The surprise possibility

It’s been a reflective time. I’m now afforded an opportunity that I didn’t necessarily consider would be possible. Sure, if you asked me a decade ago if I’d be married, I would’ve said no — yet here I am, able to think about the future with my wife.

I didn’t reach this point alone. I got here on the backs of my parents, Nana, aunts, and uncles, who did everything they could to raise awareness and money for CF research from walkathons, clothing drives, charity softball games, and trips to Atlantic City, here in New Jersey, that served as fundraisers.

My wife and her family have supported me from the moment she and I started dating. She’s shown me endless love and support as I’ve battled through CF.

And last but not least, I’m supported by my cousin Kelly, who ran in the New York City Marathon on behalf of the Boomer Esiason Foundation, which fights CF.

My wife came up with the name of this column three years ago during lunch with my mother. I’m still trying to understand nonsense and the purpose it’s served in my life. Nonsense can be absurd. Life’s greatest moments can happen at absurd times, such as finding out I could have a full life while eating fresh mozzarella. Now I can’t wait for my first full breath of air with the help of Alyftrek.

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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About the Author

William Ryan William Ryan is an adult with cystic fibrosis and cystic fibrosis-related diabetes. William is from Bayonne, New Jersey, a small peninsula city roughly 20 minutes from New York City. Along with being a columnist, he works in local government helping senior citizens, disabled citizens, and veterans. He was diagnosed with CF in early 1993. He has a rare mutation of CF, mostly affecting his digestive system rather than his respiratory system. William and his wife, Gina, have two dogs, Otis and Ruby. He hopes you’ll enjoy reading his columns as much as Otis and Ruby do.