At Baby Girl’s two-week appointment, while my doctor thoroughly examined her wee frame, he casually asked me if my family had any history of lung problems. I considered the question routine, and gave a swift “no.”
Then, at the end of our appointment, he said the reason he asked was because our girl didn’t pass the state’s mandated newborn screening for Cystic Fibrosis. From what I understand, her level of trypsinogen, an enzyme produced by the pancreas that’s an indicator for CF, was abnormally high. I think it was above 96 percent.
He said he would have called me in sooner, but since we had an appointment scheduled just two days after he received documentation, he decided not to give me a scare right before Christmas—a move I appreciated considering we had a very busy month (a baby, a surgery, a house remodel, a move). He acknowledged that nothing was certain, and her results were still pending, but went on to explain that there are all sorts of CF treatments that weren’t available twenty or even ten years ago, and how quality of life for those living with CF has improved and is continuing to improve.
I think he was just doing his job, covering his bases so to speak as well as trying to be be hopeful, but my heart was sinking all the while.
He explained that Baby Girl’s newborn blood sample would continue to be monitored by the state’s lab for any gene mutations, and they would provide an update as soon as they had one. That was the 27th of December.
In the meantime, I read about the controversy over newborn screenings and false positives, not to mention false negatives. I also read up on CF to see what our future might look like. On January 3, I received a call from his office. They still didn’t have an update but had been in the touch with the lab, and wouldn’t receive results until January 9. So I waited patiently, but two weeks is a long time to worry over something that’s potentially nothing.
I tried to block it from my mind, but couldn’t help wondering—especially between baby feedings at 3 and 6 a.m when my mind was easily troubled. Would her runny, newborn stools be considered greasy by a health care professional? Could her audible breathing be read as wheezing? Were her eyes gunky because they couldn’t clear on their own? Was she actually lethargic rather than easy-going?
Finally, on January 9, we heard from the doctor’s office, as promised. In one little phone call, a huge weight (one I hadn’t entirely acknowledged, for better or worse) was lifted. No gene mutations had been reported, and we are officially in the clear. I hung up the phone and said a prayer of thanksgiving.
Do I feel like we dodged a bullet? I hate to sound dramatic, but yes. If there’s a walk or run for Cystic Fibrosis in my neck of the woods, you bet I’ll be there pushing a stroller with two CF-free kids in it.
Does your state provide mandatory newborn screenings? What’s your opinion of them?
Read about celebrity mom Celine Dion’s work for the Cystic Fibrosis community