Shortly after Maggie was born in February 2010, we received the scariest phone call we have ever had to answer. Maggie’s doctor called to let us know her newborn screening numbers were abnormal. It was initially thought she may only be a carrier of the disease, cystic fibrosis. But after several blood tests and a lot of tears later, a diagnosis of Cystic Fibrosis Related Metabolic Syndrome was given. Maggie has the most common genetic mutation of CF, DeltaF508 and a rare mutation T1246l. Since starting newborn screening in 2010, more of these rare CF mutations are being found. At first, Maggie only showed a few symptoms of CF. Daily maintenance medicines and always being “on watch” for new symptoms helped her thrive!
Fast forward a few more years and a routine mucus culture found pseudomonas aeruginosa, a common antibiotic resistant bacteria that plagues CF patients and their lungs. Because pseudomonas aeruginosa can be life threatening to CF patients, she was given the official title of CF Patient. Since the diagnosis, Maggie has dealt with belly aches from digestive issues, chronic sinusitis due to small sinus openings (common for those with CF), headaches, and pseudomonas aeruginosa along with stenotrophomonas maltophilia in her lungs! Although this is not the path we had hoped to take, Maggie continues to be an inspiration. Through bloodwork, chest x-rays, CT scans, medicines that did and didn’t work, cultures (throat, nose, urine and stool), and daily treatments, she’s done it ALL with very little fuss. And then, by the Grace of God, we were blessed with Trikafta!
Trikafta is a cystic fibrosis medication that combines three CF modulators called elexacaftor, tezacaftor and ivacaftor. The combination of these make up, Trikafta. Trikafta is a CFTR modulator that helps defective CFTR proteins work more effectively. The defective CFTR proteins are the underlying cause of CF and are what make the thick sticky mucus that wreaks havoc on a CF persons body. Maggie has been blessed to be on Trikafta since June of 2021. Since starting Trikafta, her digestive issues disappeared, her lung function increased right away, and over all feels like a new person. Unfortunately, she’s still battling sinus issues and the bacteria in her lungs, but we are very thankful for Trikafta. It is just the beginning of a new life for CF patients.
You can learn more about Cystic Fibrosis at: www.cff.org.