My journey with cystic fibrosis has been difficult, to say the least. CF was first brought into the conversation when I was 16 years old at Children's Memorial Hospital here in Chicago. I underwent genetic tests that showed only one mutation, and the results of a sweat test came back negative.
My parents and I moved on, thinking maybe I just had really bad asthma and that my inability to gain weight was because I had a fast metabolism. Over the next few months, however, I got really sick and ultimately had to drop out of high school. Although being home was safer for me because I was away from germs that could further harm me, I still didn't have an answer as to why I was in this condition. I was sick of not getting the information I needed and began to see other pulmonologists to find out what was wrong. Each would mention CF, but would never fully diagnose me because I had only one mutation.
I was torn because even though I knew from my research that CF was the answer, I did not fully fit the mold of CF. But, I knew that I fit a mold; I just needed to find it. While visiting the Cystic Fibrosis Foundation's website, I found BreatheCon, a virtual conference organized by people with CF for people with CF. There, I met so many others like me! I met people with one mutation and the same symptoms I had -- and they were thriving! I got so much great advice, and soon, with their help and encouragement, I got in contact with a wonderful CF care center, where I was diagnosed with atypical CF* and bronchiectasis and learned that I had Pseudomonas. I have been there ever since!
I now have a whole team dedicated to keeping me healthy and alive -- people who care about my life. I went from not having the right treatment to having all the right treatments. I have my vest, I have my antibiotics, I have my treatments; it has helped everything fall into place.
My lung function has gone from the mid-40s to 66 percent. I can feel the difference in my breathing, and I will continue to raise my numbers. I gained four pounds, going from 98 pounds to 102 pounds; I had never been in the triple digits before. I cried on the scale because to me, this small weight gain meant progress. I am exercising and I am so grateful to have a care routine to follow that I happily take my medications and therapy, because I was never able to before.
I thank God for the CF community because without their embrace, advice, and friendship, I would not be where I am now. The CF Foundation also connected me with a mentor who has CF, and she's someone I can talk to and who understands when I am having a bad day.
My stubbornness and willingness to continue to fight for answers led me to find out I have atypical cystic fibrosis and bronchiectasis. I finally have a name for what was causing me so many issues growing up. And now, thanks to the CF community, I can breathe a sigh of relief.
*Editorial Note: Although "Atypical CF" is referenced, the term has no clinical significance because there is no standard definition for it.