Finding hope in what feels hopeless can seem nearly impossible, but that’s always been our goal as a family experiencing our daughter’s cystic fibrosis diagnosis together.
I can clearly remember the day we got the call that changed our lives. We were sitting on the couch with our seemingly healthy-as-can-be 10-day-old daughter, Ruth. My wife, Jackie, answered the phone and her face changed dramatically through the minute-long call — a call that seemed like an eternity. She was told that Ruth’s newborn blood work flagged for a possibility of cystic fibrosis.
We immediately scheduled an appointment with the local clinic, but we still had days to Google cystic fibrosis before then. I can’t adequately express the depth of despair I felt during that time. Finding myself reading about the potential diagnosis while rocking my daughter at night was something I never want anyone to feel.
I remember the room was so hot when we showed up at the clinic, expecting to discuss further testing. But the doctor came in and began by handing us a paper that confirmed Ruth’s diagnosis. There was some miscommunication between our pediatrician and the clinic, but the metaphorical Band-Aid was ripped off. We were sweltering and as sad as I can ever remember being in my life.
That was the bottom. We had hit the part of reckoning with the realization that our beautiful 2-week-old daughter would exist with this disease. On the same day in June 2021, our doctor grabbed our hands and said that this “magic bullet” medicine was showing great results, and it would be approved just in time for Ruth to turn 2 and meet the age requirement. Everyone in our clinic was optimistic and hopeful.
The experience was life changing. We left, we called our families, we cried, and then we got to work for Ruth.
Since that day we have clung to that optimism with everything we are. At Ruth’s clinic appointment in late 2021, we found out that the first modulator had been approved for children as young as 1 year old, Orkambi®. Ruth was 1.5 at the time and she immediately started it. She did well on it, but we were still waiting for her to be eligible to start Trikafta®. Then, on April 30, I was scrolling on my phone when I saw it: “Trikafta Approved for 2-5 Year Olds.” I grabbed my wife, and we couldn’t believe it had actually happened.
Ruth took her first dose of Trikafta just 10 days after she turned 2 years old. We were the first family in the 2-5 age group to start Trikafta at our clinic, so it was a first for them as well. We held out hope for that day for two years and we were so happy for her. Hoping it would work was another thing. Ruth took it well and a month went by without knowing if it was actually doing anything, but we remained hopeful. Her previous sweat chloride test was 97 on both arms. With cautiously optimistic expectations, we had to get her sweat chloride test done again after a month on Trikafta.
Jackie took her alone that day, which is rare, but they went to get the sweat test done before heading up to her clinic appointment. I waited patiently at home, and I got a text saying they were getting ready to leave and the results hadn’t come back yet. Disappointing, but I understood. About 10 minutes later I get a call from Jackie, who was clearly emotional. The nurse had decided to check one last time right before they walked out, and the results had returned. Ruth’s sweat test had returned values of 11 and 14, and it read “CF unlikely.”
I don’t know what the future holds and I know she still has CF, but I know hearing those words felt like all of the hope we had been holding onto manifested itself and I felt so happy for Ruth. Finding hope in that initial appointment, in our CF team, and in efforts to keep pushing research forward has made us a stronger family. It has also helped us appreciate every day as it is and to keep hoping tomorrow will be even better.
Interested in sharing your story? The CF Community Blog wants to hear from you.