Breathless Season 2, Episode 5 Recap: Left Behind

In episode 5, Breathless continues to explore how life with CF is evolving in the era of new treatments. Following the introduction of Trikafta, many began to imagine a future that once felt uncertain, including planning for retirement, shorter transplant lists, and fewer hospital stays. 

At the same time, this shift has not been experienced equally. While the progress marks a significant turning point, it has also left part of the community feeling left behind.  

In this episode, Jeremie introduces Teresa, who is among the 10 percent of people whose genetic mutations do not respond to Trikafta. She reflects on this experience by describing it as being part of the same team, working toward the same goal, while still living in a different reality. 

Understanding the different mutations  

Cystic fibrosis genetics are often understood through a simple pattern. Both parents are carriers, and the condition is passed on to their child. However, Teresa shared that her diagnosis was unique. When she was diagnosed with CF at two and a half years old, test results showed that her mother was a carrier, but her father was not. 

Jeremie raises this question with Dr. Paul Eckford, Chief Scientific Officer at Cystic Fibrosis Canada. Paul explains that, in rare cases, spontaneous mutations can occur during DNA replication. In Teresa’s case, this type of mutation happened as the DNA was being replicated, leading to her diagnosis despite only one parent being a carrier. 

Teresa shares that her CF mutation is so rare; it was not even recorded in medical databases at the time of her diagnosis. 

As Teresa grew up, her disease began to show its cards. Teresa recalls that when she entered puberty, her lung function dropped suddenly from 97 to 64 and has since declined to around 50. Alongside this, her digestive system was also affected, making it increasingly difficult for her body to process food. 

Trikafta arrived 

For many years, the rarity of Teresa’s mutation did not significantly change her experience, as most people with CF had the same treatment options available, regardless of mutation. But she remembers when Trikafta first began to roll out. She shares that she tried not to get her hopes up, aware of how difficult the disappointment could be if it did not apply to her.  

She remembers attending a local cystic fibrosis walk, where she was scheduled to speak on stage. Before her turn, another speaker shared her experience with Trikafta after becoming eligible for treatment, describing it as life changing. 

As Teresa waited to go on stage, she was listening to someone describe a version of life that she could not access. In that moment, she reflects on feeling separate from the rest of the CF community. 

Jeremie shares that hearing Teresa’s story felt like looking into a mirror, revealing a version of his own past. For much of their lives, their experiences had been parallel, until the introduction of Trikafta created a different reality. He shares that it brought back memories of earlier challenges, along with a sense of guilt. 

Possibility  

At the same time, Trikafta still represents a form of possibility. Teresa speaks to holding onto the hope that one day she may experience a similar shift in her own care. 

When asked what she would say to her younger self, Teresa encourages a focus on the present, on taking care of oneself and recognizing the effort it takes to live with the condition. She reflects on the importance of everyday actions, including the discipline of completing treatments at a young age, and how those moments shape the future. 

She adds that she hopes her future self can feel content and fulfilled, regardless of how her condition evolves, without wishing that she had done things differently or more. 

With the introduction of Trikafta, the CF story has become more complex. The challenge now is not only to recognize the progress that has been made, but to ensure that those who are not yet able to benefit are not left behind.  Looking ahead, Dr. Paul Eckford points to emerging possibilities, including mRNA-based technologies, which are already being researched by CF Canada funded researchers now. He shares these may one day address genetic mutations at their source and expand treatment options for everyone living with cystic fibrosis, including someone like Teresa.