CF Diagnosis: Part 4

It's finally time to read more about how Madeline was diagnosed with cystic fibrosis. Follow these links to catch up on part 1, part 2, and part 3.

Ironically enough, this letter from the Utah Department of Health was sent to assure us that Madeline did not, in fact, have cystic fibrosis.

The letter reported that Madeline's blood sample had been flagged in the first round of the newborn screening panel for having elevated IRT (trypsinogen) levels, something that is a marker of pancreatic insufficiency and therefore used as a preliminary test for diagnosing cystic fibrosis. Since this test can lead to false positives, it's really just a way to identify infants who may have CF, and it is always followed up by further genetic testing. According to the letter, the results of Madeline's genetic testing showed no CF gene mutations, and we shouldn't concern ourselves with CF any longer.

I read this letter about ten times. What??

For one thing, I hadn't been aware that I should be worrying about CF based on the results of the newborn screening panel. We had never been informed that she had elevated IRT levels, and it was strange to essentially be told that although we should have been concerned, we didn't need to be concerned anymore. Good to know. On the other hand, despite the negative results of the genetic testing, the elevated IRT levels in conjunction with her other symptoms could mean something after all.

Throughout the weeks that followed, the hopeful part of me held on to this letter as "proof" that CF was not the cause of Madeline's poor weight gain. We continued to do everything under the sun to get her to gain weight, including promising her a party when she crossed the six-pound mark. She was excited about the idea and worked really hard to eat and conserve her energy, but she didn't grow.

See how excited she was? She loved this jungle gym.

She had blood work done two different times to make sure she was hydrated and to see if any problem at all could be identified through lab work alone. We discovered she was anemic and started her on iron drops, but she still didn't grow.

My breast milk was tested to see if it contained enough calories. It did, and to spare, so we knew that a pure lack of calories wasn't the problem either. Still, we started giving Madeline one bottle a day of breast milk that was fortified with formula to up the calorie content even more. This bottle was more work for me but good practice for her, so I didn't mind. But even with the extra calories, she didn't grow.

Dave and his mom coaching Madeline

I started nursing her on the same side for two entire feedings in a row so she would get as much high-calorie hindmilk as possible. You guessed it--she didn't grow.

Thoroughly stumped, our pediatrician decided to refer us to a wonderful nutrition clinic at Primary Children's Hospital in Salt Lake City. Although this clinic often takes up to six weeks to get into, he managed to get us an appointment within two.

Read part 5 of Madeline's diagnosis story here.