“I’m passionate about trying to do everything you can to beat this disease…”
Cystic fibrosis (CF) is not as simple as those unfamiliar with the disease may think. There are more than 1,700 different mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene that can cause CF. These mutations are grouped into 5 different classes. Nonsense mutations include Class 1 mutations, characterized by the inability to create functional CFTR. Currently, there are no CFTR modulators available for this group of mutations and development of potential modulators has been much more challenging than for other groups.
While other classes of CF have seen hallmark discoveries and continue to see a growing pipeline of potential therapies, those with Class 1 mutations are still waiting for their new class of CFTR medications. We spoke to Amanda Boone about her identity as a CF patient and her thoughts about the trial landscape for those with nonsense mutations, like herself.
Amanda is a thirty-five-year-old CF advocate now living in Colorado Springs, CO, with her husband and son. Amanda’s hobbies include cooking, reading, hiking and being outdoors with her family. She loves Zumba and in the past when she had better lung function, she enjoyed dancing. Previously, Amanda lived in Texas where she was heavily involved with the local CFF chapter in Austin.
Amanda is passionate about being the best mom she can be to her son and securing his future. Within the CF community, Amana told us that “[she feels] strongly about healthcare issues and advocating for oneself.” When talking to Amanda about what it’s like to be someone with a Class 1 mutation, she highlighted a comparison told to her by one of her friends with a similar mutation: it’s like the boat is sinking, but there are no lifeboats for those with her mutation. This comparison underscores how the CF and research communities have found significant advancements in other genetic mutations and how Amanda’s mutation has found little to no advancement. When the community discusses how all of these amazing medications are coming out, we tend to forget that the CF community is more diverse than we think.
“I’m passionate about trying to do everything you can to beat this disease, exercise is so important. The CF Foundation in Austin now has a fundraising event called Dance to Breathe.” Amanda’s story inspired her dance studio owner and now he presents a “huge production” every year. The tickets sold raise money for the CF Foundation. Amanda discussed how her declining lung function has caused her to make life changes, but her advocacy and investment in the CF community continues to inspire and lead to positive change for the entire CF community.