The CF therapeutic pipeline has given the community hope. The diversity of treatments ranging from CFTR modulators to airway hydration and anti-infective therapy proves to fight CF through a multifaceted approach. However, CF is complex, with thousands of mutations present in the community. Some people with CF have more treatments available than others, and others are still waiting to obtain some life-altering medications. The common mutation in CF, delF508, tends to dominate discourse in policy, blogs, and even in research spaces. However, those with the less common nonsense mutations find themselves underrepresented in the research pipeline. In this spotlighting campaign, we hope to give visibility to those with mutations that are not eligible for the current wave of new CF therapies. We talked to CF patient and advocate Ella Balasa about her identity as a CF patient with a nonsense mutation, and about her outlook on her future with CF.
Ella is twenty-five years old and works as a microbiology lab technician in Richmond, VA. In the past few years, Ella has developed an interest in writing and publishing blog posts and articles. She hopes to provide support to others that face the same challenges in fighting CF. Her blogs and columns focus on personal topics related to having CF; including the reality of her condition, the hope she has for the future, and the current obstacles that are dealt with and overcome both emotionally and physically when facing CF care. When asked her perspective after thinking about clinical trial design and the research pipeline, Ella provided a unique perspective. “Primarily, [she] wants companies to understand that not all patients are the same.” People with CF experience CF in so many ways. For some patients, a low 30% FEV might mean constant supplemental oxygen and no mobility, for another, it might just be difficulty with strenuous activity. CF is not merely dictated by the numbers. People are all different. Ella believes that “this is an example of things to consider when developing parameter studies and recruiting patients as individual instead of using a set list of criteria that doesn’t seem to be amended upon.” Ella wants other CF patients, both those that receive modulators and those that don’t, and the general population to know that people with CF are fighting hard for every breath.
Ella is most excited about the rapid development of CFTR modulators and anti-infective treatments. However, she commented on the difficulty to find these trials across the country. Ella believes a more efficient networking strategy for these clinical trials would be a great help for those with mutations that do not qualify for many of the ongoing modulator therapies. As a dedicated advocate, Ella hopes to increase awareness and advocacy for those with nonsense mutations. “Although we haven’t received that break or tangible hope for a longer future, we don’t give up and are confident, it’s coming soon.“
Lastly, when asked what the first thing Ella would do if CF were cured, she stated that she’d “do many physical activities that [she’s] unable to now, recreational sports, take dance classes, snowboard, rock climb, to name a few.“
Reid D’Amico is a National Science Foundation (NSF) Graduate Research Fellow in Biomedical Engineering at Vanderbilt University. His research focuses on modeling Pulmonary Hypertension with microfluidic devices. Reid serves as a Director for the US Adult Cystic Fibrosis Association (USACFA), where he chairs their clinical trials committee and speakers bureau. He also serves on the editorial review board and therapeutic development network committee at the Cystic Fibrosis Foundation. Reid is actively working to ensure adequate healthcare coverage and visibility of rare diseases.