A Father’s Perspective This Mother’s Day:
A Mother’s Strength is No Match for Even the Most Deadly Chronic Disease
Mothers are amazing. They literally bare life. They feed us. They teach us. They protect us. They wake up first. They go to bed last. They tire but keep going. This is a real-life story showcasing that strength.
Much of our family and close friends know some of this story. But, given that it’s Mother’s Day, and Cystic Fibrosis Awareness month, I felt that this story should be told. Because sometimes, when needed, in addition to everything else, Mothers will blindly take a new medication to deliver to their baby in utero and then through breastmilk, despite the potential side effects to their own body and the laborious, and sometimes painful, extra 6 (long) months of required breastfeeding. I know this firsthand because this was Erica, my wife and the mother of my daughter, over this past year. This is a story of resilience, love, pain, and the ongoing battle with a serious genetic disease, Cystic Fibrosis (CF). More poignant, this is a story about how I have witnessed the strength and power of a mother’s endurance be the key differentiator in fighting that battle.
I am not a doctor, nor am I a Cystic Fibrosis expert. But I am a father and a first-hand observer to the miracle of a mother’s strength over the last year. This is my perspective. I hope this gives some hope to parents when they need it; inspires to have a healthy disregard for the impossible, and to bring more awareness to Cystic Fibrosis.
Mother’s Day in our home is somewhat unique in that it falls about a week ahead of our daughter’s birthday. So, this year, not only are we celebrating Erica’s first Mother’s Day, but we are also fast approaching our daughter’s first birthday. Sadly, a year ago, neither of these days of celebration were a guarantee.
Rewind about 16 months earlier. January 2023, we received confirmatory diagnostic results that our daughter was going to be born with Cystic Fibrosis (CF). Specifically, she was going to be born with two copies of the F508del gene mutation. Neither Erica’s family nor mine have a history of CF — at least not that we know of. Yet, we are both carriers of the gene mutation. This came as a surprise to us when we learned we both passed down the gene to our daughter.
The day we found out she was going to be born with CF will forever be seared in my memory. Past the tears, Erica choked up and referencing her sadness said, “I just need to get this out. I promise I’ll be strong for our girl.”
The truth is that this news was terrible news. It was tragic. It was devastating. It meant that our daughter would live with a terrible chronic condition for the rest of her life. It would almost definitely mean hospital stays; daily medications; daily physical therapy multiple times a day for airway clearance; risks of malnutrition; likely emergency bowel surgery and on and on.
All that said, Erica and I try our best to be the consummate optimists, subscribing to a stoic mentality, the philosophy born of Marcus Aurelius’s “Meditations.” We couldn’t change her diagnosis, but we could ensure we handled the situation head on, and we were determined to explore every avenue available to us. Despite the gravity of the situation, there was a lot to be positive about. For starters, this was our first child! It was the happiest thing that could happen to us, and neither Erica nor I were going to let CF rob our family of this moment. It was also 2023 and medical advances for CF have made leaps and bounds in just a few short years. We live in a city with a premier children’s hospital and top CF clinical team. There was a lot to be positive about.
Driven by an unwavering desire to ensure the best possible outcome for our baby, our search for hope led us to the promise of a new gene modulator therapy produced by Vertex Pharmaceuticals, Trikafta. Trikafta is taken twice daily and modulates the gene that controls the transmembrane conductance regulator to act normally. It addresses the root cause of CF rather than just the symptoms. Still, as amazing as this drug is it should be noted that this is not effective for all CF mutation types and continued research is underway to help with other mutations.
Learning about Trikafta could not have come soon enough, for as Erica entered the third trimester of pregnancy, our daughter was showing echogenic bowel on ultrasound. This is a common symptom of CF and could indicate serious complications resulting in bowel perforation, sepsis, and death, if not corrected.
With the help and supervision of her medical team, Erica bravely became the fourth mother to take Trikafta during pregnancy to treat our daughter in utero. Her echogenic bowel seemed to stabilize, and on May 22, 2023 we welcomed our daughter into the world. The bowel issues improved but did not completely subside. She struggled with meconium ileus — think bad constipation due to sticky poop (another common symptom with babies with CF), and we ultimately needed to stay in the NIICU for 16 days but thankfully avoided surgery and were home before we knew it.
Post discharge from the hospital, Erica took another brave step forward, and again with the supervision of her medical team, continued taking Trikafta. This time delivering it to our daughter through breastmilk and was one of the first mothers, if not the first, we are aware of to do this.
One of the ways CF is diagnosed is through a sweat-chloride test. Patients with CF do not retain salt in their body like someone that does not have CF so their sweat is literally saltier. Any chloride reading higher than 60mmol/L is diagnosable for CF.
Her initial sweat test, a week or so after being born, was 83. This was not surprising since we knew she had CF. But it was promising to see the result was lower than her mutation type would normally score on the sweat test.
Cystic Fibrosis moms can attest that the “normal” routine when you get home is anything but normal. Multiple pulmonary physical therapy sessions with percussion cups done daily to help loosen the build-up of mucous (another common CF symptom) combined with administering digestive enzymes with applesauce before every milk feeding, combined with much more frequent doctor’s visits seems over-bearing. And, this is all in addition to all the other things you are doing as a new parent.
This is where I’m in awe of Erica and the strength of her as a mother. Her poise and her stoic nature were calming for both me and our daughter. She took each day at a time, reminding me to cherish each of these moments. And, with grace, she continued managing our daughter’s chronic condition without reason for concern.
We agreed with our medical team to get another sweat test for our daughter every few months to check her progress and see if the Trikafta through the breastmilk was having an effect (which, remember, was unproven and untested).
A few months after her initial sweat test, her second results came in. Her medical team called us ecstatic, “did you see the results?! 57! Her sweat test results measured 57!”
A few months later, her sweat test results improved yet again to 33.
She still has CF. It’s still a serious disease, but because of Erica and her strength as a mother, it’s being managed. And, it seems (even if just slightly) less serious. Oh, and if that’s all not enough… over the last year, Erica went back to work full time and has also been pursuing a Doctor of Health Science degree in which she’s writing her research paper on her experience involving new and novel methods to treat CF in hopes of spreading awareness to change the standard of care for treating CF babies in the future.
