Cystic fibrosis is a progressive, genetic disease that affects the lungs, pancreas, and other organs.
There are close to 40,000 children and adults living with cystic fibrosis in the United States (and an estimated 105,000 people have been diagnosed with CF across 94 countries), and CF can affect people of every racial and ethnic group.
During their first pregnancy with Lila, Joe and Ashley Pryor underwent genetic testing. Both were identified as carriers of the CF gene, indicating a 25% chance of their children having the disease. Relying on their faith, they embraced Lila's healthy arrival in 2019.
In 2021, during Ashley's pregnancy with Ella, their second daughter, thoughts of the 25% risk were absent. At three weeks old, Ella was diagnosed with CF after two screenings. Ella's two Delta F508 gene mutations confirm the disease, a common CF mutation primarily affecting protein processing. This mutation removes an amino acid from the CFTR protein, disrupting its shape and leading to its disposal by the cell.
Early on, Ella's team noted her salty taste, a common CF indicator due to increased salt secretion. They supplemented her with table salt as a newborn to counterbalance this.
Their journey with Ella has been a rollercoaster. Trikafta, a new modulator approved for her age group, has been transformative. Despite not wanting their children to face a lifelong disease, Joe and Ashley remain faithful, trusting in a plan for their family. They are grateful for the advancements in CF medicine and research.
Ella's daily treatment includes enzymes before meals/snacks to aid nutrient absorption, a maximum of 26 capsules daily. She undergoes Vest Treatment (chest percussion therapy) twice a day for 20 minutes and nebulizer treatments with three different solutions twice a day, increasing during illnesses. She also takes Trikafta twice daily.