Cystic Fibrosis is a progressive, genetic disease that affects primarily the lungs, but also other organs such as the pancreas and liver. In patients with CF, a gene mutation causes a malfunction in the CFTR protein. The protein (when functioning normally) aids in a chloride salt exchange, allowing water to thin mucus in the airways. When this protein is unable to function properly, water is unable to reach those airways. This causes a build up of thick, sticky mucus with the inability to excrete it properly. In your lungs, there are small pili within the inner lining of your airways. In a healthy lung, these pili wave back in forth pushing mucus, bacteria, and germs along the airway and out of the lung. In a CF lung, those pili don’t move at all because of the protein malfunction. This causes a build-up of mucus, resulting in bacteria and germs to stick and stay in the lungs. Over the course of time, a CF lung endures consistent damage such as infections, inflammation, and respiratory failure.
Allow me to paint this picture for you – imagine yourself in the middle of a wheat field, on a warm and breezy summer day. The wind blowing steadily, pushing the wheat back and forth in a seamless wave-like motion. The air is slightly dry, causing the dust on the ground to be loose and lifted ever so slightly off the ground. But because of the gentle breeze blowing back and forth, the dust rolls right off the top of the wheat, never falling back down to the ground. These, are your healthy lungs. Now, put yourself in the same exact scenario for only a moment. Suddenly, the wind stops blowing, the wheat stops moving and the dust falls to the ground except the ground is now wet, soppy and muddy. The kind of mud that swallows your foot whole, ripping it right out of your boot like some sort of vacuum. With the wheat no longer waving back and forth, the dust has nowhere to move, making its only option to absorb into the mud. These are your CF lungs. The wheat is your pili, the dust being your bacteria, the mud equaling your mucous, and the ground is your airway.
There are about 2,000 different variations of the CF gene, and the combination determines the severity. In order to have Cystic Fibrosis, both mom and dad must be carriers of the CF gene. When this happens, there is a 1 in 4 chance the child will not be a carrier of the gene at all, a 2 in 4 chance that the child will be a carrier (either of mom’s gene or dad’s gene), and then a 1 in 4 chance of getting both genes, resulting in CF – that’s me!
If you are interested in learning more about the genetics and genotypes of Cystic Fibrosis, please visit cff.org.
My Story – At the ripe young age of 6 months old, I was diagnosed with Cystic Fibrosis. From that moment on, my life has seen nothing but pills, IV medications, more pills, breathing treatments, pills, chest physiotherapy, pills, hospitalizations, research studies, testing and oh, did I mention pills? But with all that being said, I have been way more than blessed with my health when it comes to living alongside CF.
My worst years were my middle school years. Decreasing PFTs (Pulmonary Function Tests), difficulty gaining and maintaining weight, frequent hospital stays, antibiotic courses with multiple PICC line placements, and discussion of long-term care and goals, which included possible port and feeding tube placement. What 13-year-old wants to hear that!? But honestly, this was my “expected” life and just something I had come to accept as my norm. In eighth grade, I made the decision to join the track team. One of the best decisions I could have made for myself. We all know that exercise is good for you, but for someone with Cystic Fibrosis, it’s even better! Exercise can act as a type of chest physiotherapy, especially running. So things finally started to look up, with fewer hospitalizations and less antibiotic courses. However, CF was still working on my body.
Fast forward a little to my senior year of Highschool. I was introduced to a research study that (little did I know) would change my life. And do you believe my initial response in participating was a big ol’ fat “N.O.” Truth be told, it was because I was scared. Scared of the unknown, all the imaginable outcomes I created in my head and what might happen to me. I was scared to miss class, football games and hanging out with my friends. I mean, it was MY senior year! At that age, stupidity and selfishness ruled the yard. You don’t think about your future self 10 years from now, you think about your future self a year from now.. the college life. And why would I miss out on so much just to start a research study, I felt fine. Well, I may have “felt” fine, but my CF was telling my body differently. My weight was low, my PFTs were in the 70’s and my lungs were starting to earn their permanent CF badges (scarring). If you are wondering what the range of a good versus a bad PFT is, imagine a scale from 1 to 100. My lungs were only able to function at 70% of their max capacity.
I don’t remember what exactly made me change my mind. I just remember that I finally decided to stop being so selfish and say yes. I decided to be a part of something bigger, MUCH bigger. And it was non-stop from there, no turning back. I had a month, one month, to really buckle down and focus on doing my chest physiotherapy because I needed to get my PFT’s to at least 80% in order to even participate. It was a long and hard month, as there were many mornings and nights where I didn’t feel like doing my treatments at all – pretty typical unfortunatley, but I pushed through. And by the grace of God, I did it, I hit my PFT goal! We were off to the races.
This particular research study was for the drug Kalydeco. It was set in the style of a double blinded study, which means neither the participant nor the researchers knew who was on the medication versus the placebo. I’ll spare you all the testing details of the study and skip right to the results. I was on the placebo the entire time, with no change in my health. However, once the study was completed, I was able to take the actual Kalydeco, the real deal, the “CF corrector”. Within 3 months of starting Kalydeco, I gained 15 pounds and my PFTs spiked to the mid 90’s. This was a HUGE deal!! My health was starting to climb and my CF was actually starting to hit a plateau.
I was 17 at the time this all started and am now 27. I’ve been on Kalydeco for 10 years and thank God every single day for opening my eyes and leading me to this study. I can’t even imagine (nor do I want to) where I would be today if it wasn’t for this life changing decision, the creators of Kalydeco and my phenomenal CF team. And of course the love and support of my family and friends! To this day, my PFTs still remain in the 90’s and I have not had a CF exacerbation requiring hospitalization since 2006. I strive to do and be my best when it comes to caring for myself in hopes to be a role-model and inspiration for others living with CF and other chronic illnesses.
I hope that you found this page to be informational and I encourage you to ask any and all questions you may have when it comes to Cystic Fibrosis and my story. CF Awareness is my top priority because “One day, CF will stand for Cure Found!” and we won’t stop “Until it’s done!”