During CF Awareness Month, Emily’s Entourage invites members of the cystic fibrosis (CF) community to share their stories. Today’s blog post highlights the story of Miquéias Lopes Pacheco, PhD, a brother of a person with CF and an active CF researcher. 

My story with cystic fibrosis (CF) started in 1992 when I was seven years old and my family and I were living in Caratinga, a small city in the southeast of Brazil. As the oldest son of divorced parents, I felt a responsibility to help my mom take care of my two younger brothers from a very young age. My youngest brother, Nilo, was born with all the classic CF symptoms, but the disease was still poorly known in Brazil. Although we went to several doctors, no one could diagnose him.

It would take six years before Nilo finally received a diagnosis! My brothers and I went on a holiday with our father, who decided to take Nilo to another doctor. Due to her medical residency being CF-related, she referred him to a specialist who requested new exams to confirm the disease. That moment was a “watershed” in our lives. Nilo could finally get proper treatments, and his health improved.

My personal and professional lives crossed for the first time in 2007 when I was in the biomedical sciences degree program in Juiz de Fora. For a medical genetics course, I chose to present on CF, sharing insights from my brother’s experience and the disease’s molecular mechanisms. That project sparked a deep desire to contribute to CF research. I soon found a lab in Rio de Janeiro—about 115 miles away—and commuted there several times a week to conduct research until I completed my degree in 2009.

During my master’s program at the Federal University of Rio de Janeiro, I deepened my knowledge in respiratory physiology and lung diseases, laying the groundwork for future CF research. In 2013, I earned an international fellowship to study at Johns Hopkins University for 18 months of my PhD, where I conducted precision medicine research on common and rare CFTR mutations. Since then, my CF work has expanded—from Brazil to the University of Lisbon in Portugal, and now at Emory University in Atlanta. Along the way, I’ve received research funding, served on the European CF Society (ECFS) Conference scientific committee, attended key conferences, and stayed closely connected to the CF community that fuels my purpose.

However, like any life story, “not everything is roses.” While I continued doing CF research far away from home, my brother’s condition worsened. Though modulator therapies that benefited his mutations (F508del-homozygous) were already approved in certain countries, they were not available in Brazil. In mid-2019, his lungs could no longer carry the weight of his disease. I’m unable to express in words how heartbreaking his loss is for me.

Later that year, when a novel mutation-targeted therapy that benefited 90% of the CF population was approved, at the first moment, I had mixed feelings: a deep happiness for all people with CF who could now benefit from this life-changing medicine, along with a “bitter taste” of remembering that my brother could have been one of them.

Yet, “giving up” was never an option for me because so much still needs to be done for so many people with CF and their families. Dum Spiro Spero; “while I breathe, I hope.”

I’m deeply passionate about science and its power to transform lives—and believe it’s essential to raise the next generation of changemakers. While we often speak of the “final 10%” in the U.S., in many countries, that number is often closer to 50%, with most living in under-resourced regions. Even among those eligible for modulators, some can’t take them due to side effects or inability to benefit, underscoring the urgent need for alternative therapies. As people with CF now live longer, new health challenges are also emerging. We cannot consider the work done until tout le monde with CF has access to effective, lifesaving treatments.

In early 2020, I included a dedication to my brother in a published scientific paper and wrote a few separate sentences about my CF perspective:

“Everyone eventually meets someone who ‘lends us a hand’ or ‘touches our soul’ and changes the paths of our lives for the better! My youngest brother, Nilo, was one of these people in my life. He was my first motivation and inspiration to become a researcher with a focus on translational research for cystic fibrosis and other respiratory diseases…Like him, many patients in Brazil and worldwide are eligible for these CFTR modulator drugs but are not receiving them yet, and many other patients remain without any ‘on-target’ therapeutic option. In tribute to him and many others who bravely fought against CF, we must continue the mission until every single patient may have ‘the highest attainable standard of health’… until the day we will see ‘all our brothers and sisters breathing free’.”

Auteur

Miquéias Lopes Pacheco is a brother of a CF warrior (in memoriam) and a dedicated CF researcher. He also participates in CF awareness activities through the Brazilian United for Life Institute to strengthen communication between scientific and lay audiences.  He is a music enthusiast and enjoys traveling and playing with his two cats, Lia and Jane.