By Erin Moore, mother of a child with cystic fibrosis
“They told you he has CF, right?,” the doctor said while he finished dressing in his PPE upon entering our room in the NICU, long before the COVID pandemic necessitated it. If it wasn’t the worst day of my life, it sure was near the top of that list. That was the first time we heard those words from a doctor, confirming what we had suspected was the case but hoped beyond hope would turn out not to be true — our son, Drew, had a progressive and fatal genetic disease that did not have a cure. He was less than 2 weeks old. We sat there and listened to the doctor, though I couldn’t tell you what he was saying to us. “Life expectancy is about 40 years, on average. Declines happen in the late teens and early 20s. Infertility. No cure. No cure. No cure.” We sat there in a fog until he asked if we had any questions and then left the room. We unraveled.
That first year was a hard one. As though having a newborn wasn’t challenging enough, we brought him home with an ileostomy after three surgeries and a bowel resection. We were thrown into the chaos of medication management and symptom monitoring. We had to learn how to navigate the complexities of the healthcare system overnight while exhausted and heartbroken. He had several more surgeries that first year and a number of hospitalizations. I really don’t know how we did it, but we just kept going.
He was 2 years old when Kalydeco®, the first mutation-targeted therapy for the CF community, was approved. I remember the bittersweet feeling of knowing that people just like us would soon experience the relief of a drug that could change the trajectory of their life. There was so much hope! The problem now was that it only corrected certain mutations for roughly 4% of the CF population, mutations that Drew didn’t have. The entire CF community — those helped by Kalydeco and those not — all banded together to continue advocacy and fundraising, not leaving any person behind.
A few years later, another medication, Orkambi®, was approved for roughly 40% of the CF population, and then another, Symdeko®, but neither covered his mutations. While we waited, Drew got sicker. He acquired several multi-drug-resistant bugs, and his lung function dropped to the 65th percentile. He was being admitted to the hospital several times a year for IV antibiotics, doing treatments from home three-to-four times a day, and generally not looking or feeling well. He was 9 years old.
Then Trikafta® was approved for 90% of the CF population.
This time, Drew had the right mutations, but the approval was for people with CF over age 12, and Drew was only 9. Undeterred in my efforts to save my son, I collected the data and appealed to insurance again, and again, and again, until one day a letter came in the mail letting us know that he was “sick enough” to have been approved. Drew was going to be given access to this medication that we hoped would change his life for the better.
Drew started Trikafta on his 10th birthday, March 14, 2020, the same day that school closed due to the COVID pandemic.
The day he started, his lung function was 67% and by March 15 — the very next day — his lung function had improved to 107%. In his first year on the medication, he didn’t need antibiotics once and his lung function remained stable at 107%. Drew gained nearly 10 pounds and grew two inches.
He could smell and taste (two senses that had previously been impacted by his CF) and, for the first time in his life, he had an appetite. He had energy like we had never seen before. Most noticeably, his cough was gone. I couldn’t tell where he was in the house or hear him coughing in his sleep through the night. People would ask if he felt better, and he would always answer with, “better than what?” He never knew anything different than CF and the cough and digestive challenges and the pills and appointments. He’d never known life without the challenges of cystic fibrosis.
He’s been on Trikafta for about a year and a half now, and I think even he would acknowledge that things are “better.” There are less appointments and tests, less medications, less hospitalizations and treatments, and less generally not feeling well. There is less interruption of CF in his life and less worry from us, his parents, who were trained to notice even the slightest difference in the sound of his cough or look of his stool.
We received the gift of time through this medication. It is not a cure, but it should help to enable him to live a full and healthy life, typical of any person without cystic fibrosis. We can’t undo damage that was done, but we can exhale knowing that his body is functioning sufficiently to provide him with what he needs to survive and thrive.
While we reveled in the relief that was Trikafta, I knew our work wasn’t done. The folks on Kalydeco were the first to feel this assurance and they came back to support the rest of the community. Then came Orkambi, and again, they returned to carry on with the rest of the community in our efforts to discover new treatment options and eventually a cure.
With the approval of Trikafta and nearly 90% of the CF community benefitting from the drug, it would be easy to forget that there are still people without these life-changing treatment options. But we’re not done yet. We can’t be because there are still other “Drews” out there desperately waiting for their breakthrough.
The time for us to band together is now. We need to use our newfound strength and confidence that this is possible to support the final 10%. We need to put all of our energy into creating a future with the whole CF community, our friends and family members, living without cystic fibrosis.
This year I’m co-chairing Emily’s Entourage’s CF Crew, and I’m asking you to join me. I’ll be advocating for the final 10% and raising money to accelerate the research developing treatment options so no one is left behind. Whether you live with CF or love someone who does, we are one community and we all deserve to feel the hope and relief that those of us who are benefitting from existing treatments have had the opportunity to feel.
I’ll end this reflection with a powerful quote from poet Amanda Gorman during a pivotal time for our country, much like this time feels for the CF community right now. “There is always light. If only we’re brave enough to see it. If only we’re brave enough to be it.” Let’s be the light for our final 10%.
Interested in getting involved? Learn more about CF Crew and create your fundraising page here.