As I sat in the genetic counselor’s office just one month into being a new mom, I found myself wishing I would’ve paid closer attention to the biology unit on Punnett squares in high school.
“OK, so I gave my son, Lance, the ‘wild’ cystic fibrosis gene and husband Joe gave him the regular gene,” I heard myself ask, “making it CFTR-related metabolic syndrome (CRMS)?”
“And he may or may not taste salty? And he may or may not have full blown CF someday? And if we have more kids, they may or may not have the same thing?” I rapid-fired question after question at the counselor.
And then I went home and began researching everything I could about this new, possible world we were entering. I found a lot of information for how to navigate CF/CRMS: a support group, doctors, articles, meetups, etc. I was prepared. However, I never really needed those things as the years went by. A quick yearly check-up with our pulmonologist and a prescription for an inhaler (that we religiously filled and never used year after year) was the extent of our CF experience. That is, until January 2024, just two weeks after Lance turned 13.
At Lance’s yearly check-up with the pulmonologist, the doctor shared that new research had been released indicating that more CRMS patients were transitioning to full-blown cystic fibrosis.
“It’s probably worth getting another sweat test baseline, but likely nothing will change,” the doctor almost promised.
A week later, after a busy out-of-town hockey tournament, Lance started throwing up what I can only describe as Nickelodeon slime-green puke and was clearly in a ridiculous amount of stomach pain. After hours of trying to manage this at home, we went to the ER for what became a whirlwind of an experience.
Lance was quickly diagnosed with pancreatitis, having amylase and lipase numbers in the 1700s — normal is around 60. An ambulance ride, morphine for the pain, and a thousand questions later, we had a plan: he would probably spend a week's time in the hospital with no food and then begin a low-fat diet.
What we didn’t have was an answer as to why this happened.
Pancreatitis in kids can be caused by four things, the doctors said:
- Celiac disease (we tested and he was negative, even though I have it and it would have been an easy explanation)
- A misshaped pancreas (nope, MRI doesn’t indicate that)
- Cystic fibrosis (it couldn’t be that — he had CRMS and if it was CF, he’d wouldn’t have any enzymes to cause pancreatitis, the doctors insisted)
- A hit to the pancreas
The last option was the obvious diagnosis. Lance is a hockey goalie, so clearly it was a hit to the stomach that caused the pancreatitis. Weekly blood draws to monitor enzyme levels and no hockey were added to the treatment plan.
The diagnosis was obvious for the doctors, but not for this mama. Lance had been playing hockey for 10 years. He’s had thousands of pucks thrown at him. And he is a kid. A teenage boy. Have you seen how they play around? (I have. I work in a high school. They can’t keep their hands off each other). I wasn’t buying it. I was suspecting that this actually was caused by cystic fibrosis.
So I did what I did 13 years earlier — I went on a research dig. And this time, I found very little about CF and pancreatitis. I was frustrated but not too concerned — he doesn’t have full-blown CF, I reminded myself.
I’m not a doctor, I reminded myself. But I am his mom, and something just didn’t feel right.
A month after the pancreatitis hospital stay, Lance tested positive for cystic fibrosis on his baseline sweat test. We ALL were shocked. I could hear the disbelief in the doctor's voice when he called me.
I said, “Yes, so that explains the pancreatitis!”
And yet, the doctor still didn’t think so. Lance’s pancreatitis healed and he was doing well. His pulmonologist remained focused on his breathing, which was doing fine, so we just kept monitoring him.
Fast forward to his late summer check-in. Lance’s breathing numbers went down. This was concerning especially since he was a newly diagnosed CF patient. The doctor said to me, “He's now eligible for Trikafta and if he was mine, I’d start Trikafta, but it’s your choice.”
We started Trikafta and quite frankly didn’t notice any difference. On with the school year we went with a new medicine regimen and hopes for a better school year. I still had the suspicion, and very little information, that the pancreatitis from January was related to CF.
At the fall check-in, the doctor shared that one of the medicines Lance was on for his ADHD might have actually caused a false positive on a sweat test and recommended we go off it (along with Trikafta) to get a true sweat test baseline. We agreed, scheduled the sweat test, stopped the medicine, and waited. We felt confident that this would explain it, because it just didn’t make sense if we believed the pancreatitis had nothing to do with CF.
Days before Lance was scheduled for the new sweat test, and three weeks after being off Trikafta, Lance ended up in the hospital with pancreatitis. Again. And finally, my mama’s intuition was confirmed — the pancreatitis was related to CF after all.
We left the hospital with a sense of confidence that we now knew Lance’s CF mostly showed up as gastrointestinal issues and not the typical breathing issues that most CF patients experience and that doctors focus on.
My mama’s intuition, my research digs, and conversations with CF professionals all confirmed that digestive issues in CF patients is an undeveloped and much-needed area of study.
And so, I will continue to question, listen to my gut, and advocate for what I think is right for my son.
And I think Lance will pay pretty close attention to that Punnett square biology lesson next year when he starts high school.
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