CF Diagnosis: Part 5

This is the fifth installment in the story of how Madeline was diagnosed with cystic fibrosis. Check out part 1, part 2, part 3, and part 4 to get the story on what happened up to this point. Only one more after this, I promise!

Long and exhausting. That pretty much sums up our first visit to the nutrition clinic, which took place in the middle of April 2009. We left early in the morning and didn't get home until well past dinnertime. You can read more about the specifics of that visit here. Basically we showed up armed with Dave's charts and spreadsheets, ready to give the doctors precise information about everything we had tried up to that point to get our baby to grow. They were pleasantly surprised when we handed them a complete history of Madeline's growth (or lack thereof) and evidence that her fluid intake was clearly more than sufficient. Dave's mom was with us, and as a nurse and a lactation consultant she was able to offer some helpful insights as the doctors asked questions.

We knew what wasn't the problem, and that was actually quite helpful because it allowed us to rule out a lot of things right away and get down to business. I honestly think that saved us a visit or two (meaning several weeks!) and made them take us seriously. Partly to see if Madeline had some type of food allergy, the dietitian asked us to do a 3-day trial with super hypoallergenic formula. This formula is full of calories and is basically partly broken down already, so the plan was to see if Madeline could at least gain weight on this formula.

But really, despite the negative genetic testing, all signs pointed to CF. The doctor also decided to order two tests: a fecal elastase test to check for pancreatic insufficiency and a sweat test to determine if she had cystic fibrosis. You can learn more about the sweat test here, but basically you just need to know that it's the "gold standard" for diagnosing cystic fibrosis, and it measures the amount of chloride in someone's sweat. People with CF have 2-5 times the normal amount of sodium and chloride in their sweat, which is why their skin tastes salty.

Madeline's first sweat test--she actually slept through the whole thing.

The doctor also called in the head of the CF clinic, Dr. Chatfield, to meet with us and just give us some introductory information. It was a sobering but hopeful conversation, and when we left, Dr. Chatfield said something to the effect of, "I certainly hope we never see each other again, but if Madeline ends up in my office, it's going to be okay."

We tried to do both tests that day, but Madeline was too skinny to sweat so the results of the sweat test were inconclusive. We got a call that night letting us know that the fecal elastase test showed she is extremely pancreatic insufficient, meaning she lacks an enzyme needed for properly digesting food and absorbing fat. The doctor ordered a shiny new prescription of Creon, which is an enzyme that allows fat to be absorbed, and a special ADEK vitamin (those vitamins are fat-soluble and cannot be absorbed by people with CF).

CF is the leading cause of pancreatic insufficiency, so while there were still a few remote possibilities for what could be causing Madeline's problems, at that point we knew it would most likely be CF. Still, in the next two weeks before we were scheduled back at the nutrition clinic, I hung on to that slim hope pretty hard and kept hoping she would miraculously be okay.

Read part 6 of Madeline's diagnosis story here.