I was a Junior in high school when I was diagnosed, which is late in terms of this disease. Cystic Fibrosis (CF) is genetic, so you’re born with it. It’s a recessive gene, like blue eyes or red hair. If both your parents have the mutation, there’s a 25% chance you’ll get it. There are lots of carriers out there, but it’s not a very common disease. Only about 30,000 people in the U.S. have a diagnosed case.
If you’re not familiar with CF, at its core it’s a genetic disease that affects the lungs, pancreas, and other organs, causing lung infections and difficulty breathing over time. Essentially, the gene mutation makes it so you don’t process salt correctly, which causes the mucus in your nose, lungs, and organs to thicken, and makes them operate less efficiently. When people are diagnosed it’s because they notice symptoms like trouble breathing, trouble gaining weight, and lung infections. Over time, your lungs get damaged by this disease, causing you to lose lung capacity.
Part of the reason my diagnosis was late is that I don’t have the pancreas issues some CFers have. My body can get the nutrients it needs from the food I eat, so I wasn’t having weight gain issues. Instead, in high school, I’d had persistent lung infections, misdiagnosed as allergies and asthma. But after six years of repeated, frequent infections that didn’t respond to antibiotics, I went to my parents and told them that something just didn’t feel right. We sought out a new, hot-shot allergist, that suspected, then confirmed Cystic Fibrosis.
I felt some physical relief right away after I was able to clear out my lungs, and start getting the right equipment and right education. For example, I learned that for me, resting when I’m sick isn’t necessarily best, exercise is usually better. And from there, I began the management of my disease.
There’s definitely a mental and physical component to having a chronic illness. My breathing treatments alone are physically demanding and involve a few different components. One, you have multiple medicines to inhale, to loosen the sticky stuff in your lungs. Two, you have to wear a vest that shakes your lungs to further loosen everything. And three, you have to do a variety of exercises to cough it out of your body. Throughout this process, you’re plugged into a wall and can’t talk. In high school my treatments took about 30-45 minutes a day. My lungs have progressively gotten worse but I’ve been able to maintain my lung function, I just have to spend more time on my treatments. So, now I’m hooked up for about 2-3 hours a day.
Yes, this time can be demanding and tiresome, but I have an achieving personality and really like breathing so I’m diligent about it. I think of it like this: “If you don't brush your teeth twice a day, every day, you’re going to get gingivitis and have teeth problems, if you don’t ‘brush’ your lungs every day, you’re going to get sick.” Plus, I’ve come to enjoy this time. During the week, I’m super productive, working on decks, writing emails, Slacking my team. I can do anything that doesn’t involve talking. And pre-COVID, I would get an hour or two of work in before I even got to the office. On the weekend, this has become my “me time,” and I love to spend the time reading.
Mentally, this disease can be really difficult. About twice a year, I allow myself to just be sad. It is hard. I’m not in denial. Coming to terms with the challenges I’ll face in the future is a process, but I’ve listened to other’s coping stories and I’m ok if I need to be down. Fortunately, I married the best guy in the world who’s understanding and supportive about it all. I’m lucky. So, when something happens and I feel like I need to take a weekend to be sad and tired and wish I didn’t have to do all this, I let myself. And then it kind of goes away. And I come back to finding my silver linings and matching what I personally like to do with what my disease allows me to do.
I know what I do during this “me time” is about to change though, because I am expecting my first child in December! Adding the baby to the picture, meant that we were considering the health of two people at high-risk during this pandemic. It was a lot to get used to, but with CF, you’re always adjusting to new norms. Either you’ve got a new drug to get used to, or you’re a little bit sicker and need to add 10 minutes to your breathing treatment. It’s never the same, so you have to be flexible.
When I turned 32, I heard promises of a drug that would be game-changing for my quality of life, lung capacity, and longevity. On 10/5/2020, at age 37, I was able to start that drug (called Trikafta) and since then my life has drastically improved. I can breathe freely. I can laugh without coughing. I can go on a weekend trip without lugging extra bags of equipment and drugs. I don't have anxiety attacks from not being able to catch my breath. I have gone from doing 8 drugs a day down to 3. I can now manage my disease with only 30min of lung therapy a day. I get to live life differently than I know it.
I cry often these days, expressing grief for what I’ve been through, and how overwhelming it is to have my quality of life improve so drastically. Life is so much more exciting with Trikafta. My life is going to be so much longer with Trikafta. For the first time in 20 years, I wake up knowing that things are going to be okay.