Yet Another Test to Find the CFTR Modulators That Work for Me

A little nose swab could make a big difference in my cystic fibrosis journey

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by William Ryan |

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This past March, I found myself in Baltimore to get my nose swabbed.

“Isn’t that a little out of the way for a COVID-19 test? You’re from New Jersey. Baltimore is hours away!”

Well, I can assure you that it wasn’t a COVID-19 test, nor a regular nose swab. In fact, this was the second time in nine months that I had this particular swab. I was trying to find out if I qualified for one of the four CFTR modulators: Trikafta (ivacaftor, tezacaftor, and elexacaftor), Orkambi (ivacaftor/lumacaftor), Symdeko (ivacaftor/tezacaftor), or Kalydeco (ivacaftor).

The name of this column, after all, is “Understanding Nonsense,” which is inspired by my genetic mutation, R560T/621+1C>T. It’s my understanding that only seven other people with cystic fibrosis (CF) have this genetic mutation. It’s a little harder for us to qualify for CFTR modulators.

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The modulators have done wonders for most people with CF — about 90% of us, in fact — and have helped progress their lives in ways that were unimaginable about 15 years ago. Which is great and something I’m very happy to see. I think with the remaining 10% or so of us, there’s a little bit of FOMO, or fear of missing out. We want these modulators, too, but if we don’t qualify for them, then there’s very little we can do.

Last year, I was approached by my doctor about participating in a study being done in Cincinnati, where they’d try to see if any of my genetic mutations would match for one of the modulators. I couldn’t say yes any faster, and a few months later, I was back in my doctor’s office getting my nose swabbed.

Now, while I know the swabbing was important, it did hurt a little. There’s nothing anyone can do about it, because we’re trying to get cells here, but the swab itself looked like a mascara brush.

Nonetheless, I waited patiently for months. After about four months of waiting, however, the results were in, and I didn’t qualify for any of the modulators. It’s unfortunate, but I knew it would be a strong probability because of how rare my mutation is.

About four months later, I received a call from my genetic counselor basically asking if I wanted to take the nose swab show on the road to Baltimore. There are a lot of things to like about Baltimore: “The Wire,” Lamar Jackson, and seafood! I hadn’t been to Baltimore since my dad’s cousin was ordained a priest back when I was 8, but I looked forward to going.

After celebrating my wife’s birthday the day before with delicious seafood in the Charm City, we were up early the next day to go to the Johns Hopkins CF offices. The staff members were ever so friendly, and this time, I had my nose numbed so I didn’t feel the very expensive mascara brush going up my nose. And that was it!

It’s now been seven months since this trip, and the researchers are still putting their best effort into finding a match to one of these modulators — even if it may be a lost cause. Every day, the CF community and its doctors go out of their way to try to find anything that can make our lives easier until a cure is found. I’m hopeful that one day I’ll match with these modulators and will be able to experience the gift that most others with CF have.

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.




Great article Will.Love you

Helen Palmiero avatar

Helen Palmiero

Will - I'm very familiar with your wonderful sense of humor which also shines through in all your articles here. You are, however, educating me more than you know, for which I am very grateful! Love, Helen


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