Finding Truth and Facing It: My Late CF Diagnosis

All my life I wanted an answer to why I was so sick. Then I got it, in the form of a CF diagnosis.

| 4 min read
Katie-K-headshot
Katie K.
Katie-K-Group-Featured-Rectangle

During a visit, my ear, nose and throat (ENT) doctor began asking questions unrelated to ear health, including noting that my fingernails were clubbed (rounded), an indicator of lung disease. Then he asked, “Have you ever been tested for cystic fibrosis?”

I grew up wondering why I felt sick every day. Doctors told me that I was tiny for my age but otherwise healthy. I decided that feeling ill was a part of me and was normal. 

During college, I was diagnosed with diabetes, which further confused me. Diabetes explained some symptoms, but not the coughing, shortness of breath or digestion issues.

Trying to find an answer, I started aggressively going to doctors and researching my symptoms to find diseases that matched. As doctors suggested unlikely diseases, such as hormonal disorders, kidney disease, lupus and depression, I felt I was farther from an answer. 

By the time I was 22, I felt defeated. My doctors had concluded that I was depressed and making up symptoms. It felt like it was time to give up my desperate search and accept a life with an unknown disease. 

Then my ENT suggested CF, a disease I had never heard of. As he described what he knew about CF, it matched all of my symptoms and promised the answer I had been looking for my whole life. 

My primary care physician was confident that I did not have CF. “If you had CF, you would not be alive right now,” she said, explaining that kids with CF do not live into their 20s, especially without treatment. I didn't listen to her. I wanted to be tested for CF, which led me to see a pulmonologist. The pulmonologist said the same things and offered an asthma test. I refused, insisting on genetic testing.

The official diagnosis came when my genetic test results showed that I had CF (my mutation is G551). Although I was scared and confused, I was relieved to have a diagnosis and hopeful about feeling better. All the searching for answers, the helplessness and sickness might finally end. 

Discussing a treatment plan with the pulmonologist, I realized that this was not the end at all. I learned that I had a very long road ahead of me of treatments and lifestyle changes. My pulmonologist told me that with luck, I might live to 30. 

My heart sank to my knees every time I thought about it. Living to 30, if I'm lucky. I became depressed and withdrew from friends. I couldn't tell them about CF. I couldn't live their lifestyle, knowing I had CF and a grim future. 

Katie-K-Friends-Collage

I tried to be positive. I had wanted a diagnosis for so long. I should be grateful for an answer. But I wanted to go back to yesterday, before I had CF. I was just me back then, not a CF patient. Who was I now?

Eventually I learned about the CF Foundation and CF care teams.

My CF care team seemed to know everything about CF, and explained the history of CF and that the median predicted survival age is almost 40! Imagine how much my life expectancy could increase in the next 10 years with new research and treatments

I had a new sense of hope. The care team warned me that yes, I do have a tough road ahead. I will need to be diligent about treatments and medicines and doctors' appointments, but they would help me feel better and live longer. 

Katie-K-Hiking

I am now 29, and because of my CF treatments I feel much healthier than I did before. Even though I was diagnosed 6 years ago, I'm still adjusting. There are moments when I think to myself: "What if? What if I was diagnosed younger? What if I had access to these treatments back then? What could my life have been?" There are feelings of anger that come with those questions. During those tougher times I have to take a step back and try to focus on the positives, and remember that we don't know what the future will bring.

Share this article
Topics
Care Team | Diagnosis | Emotional Wellness
Katie-K-headshot

Katie was diagnosed with cystic fibrosis at the age of 22. In 2014, she participated in the CF Foundation's Metro D.C.'s Finest Young Professionals Campaign and received an award for raising the most funds. She was also the keynote speaker at the Finest Finale event and speaks about CF at local fundraisers. In addition to fundraising, she enjoys running, line dancing, drinking coffee and spending time with friends.

Recent Community Posts
How Comedy Helped Me Cope With CF
Blog | 8 min read
Exercise to Improve Your Strength and Endurance With CF
Blog | 9 min read
My Experience on The Voice Australia
Blog | 5 min read

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.