Cystic Fibrosis (CF) is complex disease with thousands of mutations present in the community. Those with less common, or nonsense mutations, find themselves underrepresented in the research pipeline. We talked to CF patient and advocate Ella Balasa about her identity as a CF patient with a nonsense mutation, and her outlook on her future.
Ella is a twenty-five-year-old who loves to travel and works as a microbiology lab technician in Richmond, VA. When not in the lab, Ella dedicates her time to writing and publishing blog posts and articles to support others that face similar challenges in fighting CF. Her blogs and columns focus on personal topics related to having CF including the physical and emotional reality of her condition and the hope she has for the future. In addition to being an excellent writer, Ella is also a gifted artist. Her recent project, a drawing symbolizing a CF lung made of tree branches with roses on them, resembles the hopeful life of CF patients despite hardships faced.
When asked her perspective on 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% FEV1 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. Ella believes that this is an example of things to consider when recruiting patients.
Ella is most excited about the rapid development of cystic fibrosis transmembrane (CFTR) modulators and anti-infective treatments. However, she commented on the difficulty of finding these trials across the country. As a dedicated advocate, Ella hopes to increase awareness of clinical trials for CF patients with rare mutations (patients who are not on CFTR modulators). “Although we haven’t received that break or tangible hope for a longer future, we won’t give up and we are confident it’s coming soon.”
Lastly, when asked what the first thing Ella would do if her CF were cured, she stated that she’d “do many physical activities that [she’s] unable to now; recreational sports, take dance classes, snowboard, and 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.