It was December 16, 2021 — one day before our five-year wedding anniversary — that my husband, Bryan, and I learned that our 6-month-old son, Rowland’s, sweat test results indicated cystic fibrosis. Although I initially felt sick to my stomach as tears streamed down my face, it lasted only a few minutes. Nausea quickly turned to rage. I didn’t understand how not one, but two screenings could have missed this diagnosis.
Bryan grew up with a cousin who is living with CF, so we knew a little bit about the advancements that have been made in the CF community. We knew about the recently approved CFTR modulator Trikafta® and that newborn screens have come a long way in diagnosing CF at birth prior to an individual experiencing symptoms. I did not realize a diagnosis for CF could still be missed, but there my husband and I sat, in our kitchen, wrestling with this news as I was taking deep breaths and putting all of my energy into refraining from throwing my phone across the room. I stood up and frantically ran to my computer to look for the results of my carrier screen and Rowland’s newborn screen. I needed answers.
When I was pregnant, I did a carrier screening for CF, which was negative. Rowland’s newborn screen was negative as well. When he was about 2 months old, Rowland started falling off his growth curve. At 6 months, his pediatric gastroenterologist suggested a sweat test to “rule out” CF so we could have a “relaxing holiday season.” By this point, Rowland had started gaining weight and remained on his 3% growth curve, which is an important indicator that a baby is gaining weight well. We believed it would be negative because we had two negative CF screenings and I am of Ecuadorian descent. The odds of having a CF mutation if you are Hispanic range from 1 in 4,000 to 1 in 10,000. We had no reason to believe Rowland would have CF.
The answers became pretty clear when we learned that Rowland has two rare mutations — 2184insA and H609R; the latter has only been found in individuals with indigenous Andean ancestry, most of whom are of Ecuadorean descent.
Both my carrier screen and Rowland’s newborn screen only tested for the more common mutations and neither of Rowland’s mutations were on either mutation panel. The hardest part of processing his diagnosis is knowing that neither of these mutations are eligible for a CFTR modulator.
While Rowland is not at the age where he would be eligible for Trikafta anyway, I wish we had the reassurance of knowing that he could at least try it at age 6. However, that is not our current reality.
While 2184insA would not respond to a modulator, his other mutation H609R could potentially respond, but there is limited data on this mutation. As I was doing more research, one study suggested that H609R is the second most common mutation in Ecuador. Unfortunately, Ecuador lacks the resources the U.S. has and only has access to common mutation panels that do not identify H609R without help from countries that have access to DNA sequencing that would identify H609R. This leads me to believe there might be many people with this mutation living without a diagnosis.
Sometimes I struggle knowing the mutation I passed on to my son has only been found in Ecuadorean populations. I wonder if we would have more information about how H609R functions by now if the mutation were common in the U.S. Maybe we would even have access to a modulator if it were more common here.
Ethnic background plays a role in detection of CF. California, where we live, has the fourth highest Ecuadorean population in the country, but this common Ecuadorean mutation was not on California’s newborn screen panel — a missed opportunity. Hyper-focusing on the mutation I passed on to Rowland was my way of processing all of this. Being awake in the middle of the night searching for any information I could find on his mutations was how I got through that first month. As a mom, you just want to protect your child from harm.
For a brief moment in time (and I do not feel this way any longer), I felt responsible for passing this rare mutation on to my son. I felt like I had caused this and did not protect him. Reading research articles in the middle of the night was the only thing I had control of — the ability to learn.
While sometimes I feel frustrated that Rowland’s diagnosis was missed by two screenings, now I mostly just feel grateful. I am grateful that the timing when Rowland was born and where we live play a role in the excellent care he receives. While neither of Rowland’s mutations are eligible for a CFTR modulator, we have an opportunity to participate in a study to see if one of these mutations may respond to a modulator in the lab. The possibility of having a treatment available in the future feels so close. In addition, we received a diagnosis when Rowland was 6 months old, which is still early, and I attribute this to where we live and the amazing doctors we have access to.
We used to live in Hawaii and did not have access to CF care there. If we hadn’t moved to California while I was pregnant, we would not have gotten the CF diagnosis. Chances are, Rowland would not have been diagnosed for a while and we would have missed all the preventative treatments he needs to improve health outcomes.
I do not take this for granted. This journey has really taken our family on an emotional rollercoaster. Sometimes I experience grief, fear, and hope all at the same time. I feel passionate about advocating for people with rare mutations, and I hope our experience sheds a bit of light on how rare mutations can be missed and facilitates conversations on how to further improve early diagnosis (and there have already been so many advancements) for those living with rare CF mutations.
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