Having cystic fibrosis, I’ve always known I was different than others. And now, with the further development of life-changing CF modulators, I feel that difference even within the cystic fibrosis community. I’m not in the 94% of people who can benefit from modulators. I’m in the 6% of the CF community who currently have no modulators available for their mutations — I have two copies of the same nonsense mutation.
I’ve known about my nonsense mutations for as long as I can remember (my mom used to joke that I was full of nonsense … I think she was right!). As I’ve gotten older — I just turned 40 — I’ve begun to physically feel the chronic inflammation and pesky bugs like Pseudomonas plaguing my lungs. My lung function has gone down and it takes more effort and energy to get through a regular day.
Knowing there aren’t any modulators for me is hard to deal with — I won’t pretend otherwise. So, for my wife, Kate, and me, it’s been even more important to look at a couple of key things we could do for my health. Besides my daily CF regimen, we focus on clinical trials that involve both nonsense mutations and the specific challenges I face with my lungs.
After watching the second plenary session of the 2022 North American Cystic Fibrosis Conference, “It Takes Everyone: Novel CF Therapeutics to Accelerate Our Mission” from Drs. Deepika Polineni and Nicole Mayer Hamblett, I realized how much work went on behind the scenes.
Hours of Zoom meetings, data entry, researching, and reviewing documents — it is refreshing and uplifting to know that they will keep on fighting “until it’s done” for everyone.
Dr. Polineni laid out what is coming down the pipeline. She discussed the development of advanced treatments for the 6% who can’t benefit from or tolerate current modulators. It’s important to develop these treatments so everyone can live healthier lives.
In the last five years, I’ve taken part in three clinical trials — and Kate and I are always looking for more. We were able to take part in a bacteriophage trial this past year, which was something we were both very hopeful and excited for. The development of phage therapy in the U.S., as well as abroad, is something that has so much potential for addressing “superbugs” and chronic infections in the body; we are awaiting the next phases of the trial.
As an adult facing CF’s disease progression, participating in clinical trials has been something that has given me hope for what could be, and purpose and meaning through helping others with CF in the near future. It’s my little piece of doing good, and I believe it makes a difference.
I’ve also participated in trials utilizing mRNA specifically geared toward nonsense mutations, as well as a trial with a current modulator to see the benefits on someone with nonsense mutations. Kate and I have had the privilege of working with some of the top pulmonologists like Dr. Patrick Flume from the Medical University of South Carolina and Dr. Steven Rowe, who is now the executive vice president and chief scientific officer of the CF Foundation. These doctors and their research teams are working tirelessly on studies that are bringing us new drugs and new possibilities of a longer and better quality of life. It’s an honor to work with these people!
In the second part of the plenary, Dr. Nicole Mayer Hamblett shared specific stats on how the Foundation and CF researchers have evolved beyond doing one trial at a time and are committed to do trials for every mutation and every symptom, demonstrating that every person with CF is a priority. She described how doing many trials at a time will help more people and shorten the timeline to find a cure for all. I also am aware that for some of my fellow CFers, the distance, their careers, and their individual lung function prevents them from taking part in clinical trials. I’ve been fortunate enough to not have these challenges prevent me from participating in clinical trials, but you never know what the future holds. So, I do what I can now.
I know that at the end of the day, I want to continue to be an active part of clinical trials for cystic fibrosis as someone who can make a difference. My life depends on it, the lives of others with CF depend on it, and the cystic fibrosis community is working so hard daily to make CF really stand for “Cure Found.” Kate and I are honored to be part of this heroic effort.
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