Where Do I Fit In?

Having cystic fibrosis is challenging enough. It’s a daily cycle of medications and finding a balance in the day of when to do treatments and so forth.

I am not like every other person with cystic fibrosis. I fall into a group of 10 percent that has rare mutations. Due to my rare mutation, I was diagnosed in my early twenties.

My cystic fibrosis diagnosis story

My whole life I tried finding reasons for why I was so sick. I searched for reasons why I was not breathing right and reasons as to why I was so skinny and small. I was treated as a severe case of asthma for most of my childhood and into my teens.

Over time, my health began to decline. I was not breathing right and, no matter what the doctor gave me, I was not improving. I felt alone and I felt like something was going on with me that no one could explain. I went from specialist to specialist and, finally, I heard the doctor mention cystic fibrosis. It is a moment I will never forget - because something clicked. It felt like that was me.

I was tested genetically but my mutations were not something they’d seen before, so I was not diagnosed with CF. They did not want to treat me because I did not fit into the “normal” CF criteria and, once again, I was alone. I was scared because I felt that if I did not get any help, I was going to die.

Fighting for answers

By my early twenties, I was pale and 92 pounds. I was weak but I knew I had to fight. My sister had gotten pregnant and I knew, if I didn’t keep going, I was never going to meet this baby. I wanted to live and I wanted to see my niece grow up!

With that fire ignited in my heart, I began researching cystic fibrosis and trying to find others like me. There was! I met a wonderful person during “BreatheCon,” a virtual event held by the CF Foundation. I spoke to so many other atypical CFers and non-conventional CFers. There, I found myself. I felt safe. I knew I belonged and they welcomed me with open arms. I wasn’t afraid anymore!

Finding people who understand

I learned of a CF doctor who met with patients with rare mutations. I made an appointment and, a week later, the doctor took my labs and listened to me - really listened to me - and he did something I waited over 20 years for: he diagnosed me! I was diagnosed with CF and began my treatments right away. The relief I felt was unreal! I had answers, I had a treatment plan, and I now have a CF team who cares so much about me.

That day was the day my life was saved because I was not going to make it without the right treatment. I fought so hard just to be diagnosed, just to have answers, that to finally have it was like seeing sunshine after being trapped in the dark for so long. I can finally breathe better and I gained weight! (I'm 115 pounds!)

Never give up hope because it’s there, even if you can’t see it.

What is your cystic fibrosis diagnosis story? I'd love for you to share it!