During Rare Disease Week, Emily’s Entourage invites members of the cystic fibrosis (CF) community to share their stories. Today’s blog post highlights the story of Bree Hankins, an adult with cystic fibrosis. 

The sun is setting on a cold autumn evening. The lights are off and I’m gently rocking my 18-month-old Leona in the soft glider in the corner of her room. I hear my husband, Ben, tucking in our almost five- year-old Delphine just on the other side of the wall. Del’s sweet voice and Leo’s sighs lend their calm to my racing thoughts. I hear Ben close Del’s door behind him and Leo lets out one final, sweet yawn, and I know she’s out. 

I keep holding her chunky, tiny little body close because it is a moment I want to remember forever. I also don’t mind her anchoring me to this spot, because once I get up, I know I will be alone with my thoughts. 

And in the autumn of 2019, alone with my thoughts was a scary place to be. I was just beginning to recover from the first cystic fibrosis–related catastrophic pulmonary exacerbation of my life that wiped out a significant portion of my lung function. 

It would take two hospitalizations and many months of outpatient treatment and follow up to fully unpack the specifics, but the long and short of it was a fungal infection and bilateral pulmonary emboli that drove my swift decline. 

Blastomycosis and blood clots: a combo not commonly seen in people with cystic fibrosis (CF), at least not documented in the literature.

It was a stark realization that I was rare, even within an already rare community. 

Shortness of breath after any minor exertion and constant exhaustion limited all normalcy in my life. A second opinion that I had hoped would bring peace of mind backfired. I could possibly improve my quality of life with exercise and treatments, but it became clear to me that this sicker state was my new baseline. 

At 36 years old, this was the first time I was forced to confront my own mortality, and I couldn’t escape the fear of my girls growing up without me. 

Maybe you’ve picked up on the subtle foreshadowing, but 2019 was not just a pivotal year for me. It was a transformative moment for the CF community as a whole, as it marks the year that  a revolutionary new CFTR modulator therapy was approved for 90% of the CF population who have at least one copy of the most common F508del genetic mutation Unlike other symptomatic treatments, this new CFTR modulator addressed the root cause of CF, radically changing the face and trajectory of CF for the vast majority of the community. 

But just as quickly as this new hope flashed, it faded as I learned my rare CF mutations, G542X and N1303K, were not eligible for this new therapy. 

Suddenly, I found myself among 10% of people with CF who are not able to benefit from these life-changing breakthroughs. The final 10%, left behind. 

There it was again. Rare, among rare.

I’m ashamed to admit how complicated my emotions were during this time. Let’s just say there were now a lot more thoughts I didn’t want to be alone with. I couldn’t yet see what this development meant in the grand scheme of progress for all people with CF and it gave way to anger, despair, and a “why me?” mentality. 

It didn’t take long for some other hard-coded DNA traits to kick in. I may have been born with CF, but I was also born a control freak (thanks Mom) and an optimist (thanks Dad)—a genetic win for once! So, operating on the delusion that I had complete control over my future and fueled by spite from that second opinion, I got to work inventing a new outlook on life and a plan to maintain what lung function I had left. 

I channeled my anger into action, my despair into dedication, and my “why me?” into “what’s next?”

I exercised at 5:00 AM almost every day. I recommitted to my twice daily medical treatments. I set Google alerts for my mutations and I stalked the clinical trial pipeline. 

Nothing about it felt like strength at the time. It was hard and it was just what I needed to do to survive and carry on for my babies. 

That’s the thing about being rare among rare. So much responsibility falls on us to pick ourselves up, do our own research, be our own advocates, stretch our own limits as we reach for hope. 

Then, in August 2022, after three years of exercising nearly every day, (nevermind through a global pandemic, a topic for another novel), a little Google search changed everything: a clinical trial testing the new CFTR modulator in people with at least one N1303K mutation was enrolling participants. I got chills emailing the trial coordinator and felt butterflies in my stomach when she replied. 

After determining my eligibility, I booked my travel and enrolled in the trial. Everything that followed is sort of a blur, but the short of it is—after multiple visits, my numbers showed clinically significant improvement! It took a little bit of jumping through insurance hoops but in December 2023, based on my clinical trial data, I was officially approved for off-label use of the CFTR modulator. 

Supported by these clinical trial results, it wasn’t long after that the FDA approved expanded use of the CFTR modulator to include my mutation, N1303K as well as a number of other rare mutations.

I’m 42 now and have continued to experience real gains in lung function and my quality of life. I’m grateful for every birthday I get to spend with my girls, thanks to research and the people pushing for it. The mere privilege of having aged into my forties is something that sustains me and has helped me embrace the cringe that is middle age. I get to embarrass my now seven and 11 year olds. I get date nights with my hubby. I get to host family for birthdays and holidays. I get to be ridiculous with my tribe of girlfriends. I get to pursue career opportunities.

I want adulthood to feel this way for everyone with CF.

Being rare among rare, I know the feeling of having treatment that is just out of reach and the urgency of speeding new developments. There’s so much momentum and so much hope, and it feels like we’re so close to another breakthrough for everyone. We must all keep pushing with all of our might so everyone with CF gets the privilege of being middle age and beyond that I am so lucky to get to experience now.

Author

Bree Hankins is an adult living with CF, a full-time communications professional, mom to two up-and-coming independent little women, and wife to Ben for 15 years.