An Atypical Entry Into the Cystic Fibrosis Community

My atypical cystic fibrosis led doctors to believe that my health issues had another cause. Members of the CF community welcomed me as one of their own and helped me to find the answer.

| 4 min read
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Marieliz Landa
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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.

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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.

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Marieliz has atypical cystic fibrosis and bronchiectasis. She is a member of the patient advisory council at Presence St. Mary and Elizabeth Medical Center in Chicago, where she ensures patients receive top care and attention from medical staff. Marieliz enjoys getting involved in Foundation projects and currently lives in Chicago with her husband, Michael, and they share an adopted cat named Penelope Marie.

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This site contains general information about cystic fibrosis, as well as personal insight from the CF community. Opinions and experiences shared by members of our community, including but not limited to people with CF and their families, belong solely to the blog post author and do not represent those of the Cystic Fibrosis Foundation, unless explicitly stated. In addition, the site is not intended as a substitute for treatment advice from a medical professional. Consult your doctor before making any changes to your treatment.