One day, while my friend, Jill, and I were talking about an upcoming girls’ trip, she said something hilarious and I laughed hard enough to pass gas so loudly that it literally echoed throughout my workplace. People in the offices upstairs came out to see what happened.
No one I’ve known throughout my long life has had so many medical issues seemingly without cause. No one I’ve known has constant stomachaches and passes gas every time they cough or laugh. But, I’d never known anyone with cystic fibrosis, which turns out to be the reason for my respiratory problems. I also have pancreatic insufficiency, which most likely is the reason for … well, you know.
To most people with CF, these aren’t unique problems. But, I was diagnosed with CF only a few weeks ago — at 69 years old.
As a child, I always got a nasty cough after a chest cold. I complained of frequent stomachaches and was labeled a hypochondriac because I complained of being sick so often. As I got older, I learned to live with the pain and discomfort. I had cough medicine for coughs, and acid reducers for heartburn. When I couldn’t breathe, I would use over-the-counter inhalers, and when my stomach hurt, I would cry. I finally found a doctor who told me I had irritable bowel syndrome and he prescribed a miracle blue pill (dicyclomine) that relieved my stomach pain most of the time.
I started smoking in my late teens; soon my childhood cough became a smoker’s cough. When I quit in 2004, my cough stayed around and my breathing never got easier. In December 2005, I started coughing more and my phlegm had the occasional streaks of blood. I felt like I could fill a bucket on a daily basis with my mucus. One afternoon while driving home from work, I suddenly felt very ill and went to the ER where I had a bevy of tests performed. Eventually, I was diagnosed with bronchiectasis and nontuberculous mycobacteria (NTM) infection. After 18 months of antibiotic treatment, I felt better.
Since my bronchiectasis diagnosis, I have made numerous trips to the pulmonologist’s office and the emergency room. I have had three bouts of NTM, three PICC lines inserted for Pseudomonas aeruginosa infections, and I have had sepsis. I have been hospitalized with pancreatitis and most recently I was diagnosed with idiopathic pulmonary fibrosis (IPF).
After my IPF diagnosis, I expressed interest in a 23andMe research study being done on IPF. This required submitting a DNA sample for testing.
When the results came in; they showed I had two variants of the cystic fibrosis gene. After much online research, I felt like the culprit had been found for almost every health problem I’ve had since I can remember.
I messaged my pulmonologist, who said, “At your age, diagnosis of cystic fibrosis would be something to publish in a medical journal …”. Then I messaged my previous pulmonologist who thought it would be very unlikely for me to have cystic fibrosis, but he would arrange for me to meet with a genetic counselor. This led to my first and very positive introduction into the world of cystic fibrosis.
The genetic counselor ordered a sweat test, which showed I had CF, and asked the CF clinic to contact me for an appointment.
My first appointment was amazing and I felt like the star of the show! The pulmonologist went over my latest CT scan like he had all the time in the world, and he explained things in a way that I actually understood. He also told me that my specific mutations should respond to a CFTR modulator (Symdeko®). The respiratory therapist showed me how to use a nebulizer twice a day to further help with airway clearance, and the dietitian explained the need for enzymes for my pancreatic insufficiency. I was overwhelmed and over the moon. As my husband put it, “Your care just went from the minor leagues to the big leagues.”
Since my CF diagnosis, my emotions have been all over the place. I am angry, happy, and hopeful.
I am angry because I wasn’t diagnosed earlier. If I had been, I might be breathing better and I could have been taking the right treatments targeted to this specific disease — especially when modulator therapy first came into play a few years ago. And, by the way, I’ve always been angry at myself for smoking.
I am happy because I know that most everything I have experienced throughout my life, the stomach aches, the colds that resulted in a nasty productive cough, the ridiculously nasty snotty nose, the bacterial infections — they all make sense now.
I am hopeful because after 69 long years of a battle with an unknown opponent, I now know what I’m fighting. And, although not curable yet, there will be new drugs and treatment developed to extend the lives of people with this invisible disease. And one day there will be a cure.
When I started writing this blog a couple of weeks ago, I was newly diagnosed and, frankly, pissed off at the entire medical industry. How could the multiple pulmonologists, infectious disease doctors, internists, general practitioners, and gastroenterologists I’ve had throughout my life not have connected the dots to cystic fibrosis?
Now, after the shock and awe of this new event in my life, I am trying to learn as much as possible. I am beginning to process the information. I feel grateful that I may live past my goal of 84 years. I hope my story, as well as the stories of other people diagnosed late in life, will bring awareness to the medical field to think out of the box with older adults who present with symptoms that may be related to cystic fibrosis. "If it looks like a duck, swims like a duck, and quacks like a duck, then it probably is CF."
I have since joined the CF community on Facebook and I attended BreatheCon 2023, which I highly recommend you attend next year. The people I have interacted with have positive attitudes, they are involved, and they are inspirational. I hope to follow suit.
At the age of 69, I have found my people.
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